CleftGeneDB-Search

Gene: FZD2

Basic information

Tag	Content
Uniprot ID	Q14332; Q0VG82;
Entrez ID	2535
Genbank protein ID	AAI13405.1; AAB46397.1; BAA34667.1; AAI13403.1;
Genbank nucleotide ID	NM_001466.3
Ensembl protein ID	ENSP00000323901
Ensembl nucleotide ID	ENSG00000180340
Gene name	Frizzled-2
Gene symbol	FZD2
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Receptor for Wnt proteins. Most of frizzled receptors are coupled to the beta-catenin canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes (PubMed:25759469). A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to involve interactions with G-proteins. May be involved in transduction and intercellular transmission of polarity information during tissue morphogenesis and/or in differentiated tissues.
Sequence	MRPRSALPRL LLPLLLLPAA GPAQFHGEKG ISIPDHGFCQ PISIPLCTDI AYNQTIMPNL 60 LGHTNQEDAG LEVHQFYPLV KVQCSPELRF FLCSMYAPVC TVLEQAIPPC RSICERARQG 120 CEALMNKFGF QWPERLRCEH FPRHGAEQIC VGQNHSEDGA PALLTTAPPP GLQPGAGGTP 180 GGPGGGGAPP RYATLEHPFH CPRVLKVPSY LSYKFLGERD CAAPCEPARP DGSMFFSQEE 240 TRFARLWILT WSVLCCASTF FTVTTYLVDM QRFRYPERPI IFLSGCYTMV SVAYIAGFVL 300 QERVVCNERF SEDGYRTVVQ GTKKEGCTIL FMMLYFFSMA SSIWWVILSL TWFLAAGMKW 360 GHEAIEANSQ YFHLAAWAVP AVKTITILAM GQIDGDLLSG VCFVGLNSLD PLRGFVLAPL 420 FVYLFIGTSF LLAGFVSLFR IRTIMKHDGT KTEKLERLMV RIGVFSVLYT VPATIVIACY 480 FYEQAFREHW ERSWVSQHCK SLAIPCPAHY TPRMSPDFTV YMIKYLMTLI VGITSGFWIW 540 SGKTLHSWRK FYTRLTNSRH GETTV 565

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

PDB ID
6C0B

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Developmental stage	Species	Evidence	Details
1:1 ortholog	FZD2	2535	Q14332			Homo sapiens	Prediction	More>>
1:1 ortholog	Fzd2	57265	Q9JIP6	CPO	E14.5	Mus musculus	Publication	More>>
1:1 ortholog	FZD2		H2QD74			Pan troglodytes	Prediction	More>>
1:1 ortholog	Fzd2		G3V954			Rattus norvegicus	Prediction	More>>
1:1 ortholog	fzd2		F1QBI2			Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1413946017	p.Ser5Arg	missense variant	-	NC_000017.11:g.44557703C>G	TOPMed
rs1391088820	p.Pro8Thr	missense variant	-	NC_000017.11:g.44557710C>A	gnomAD
rs540777044	p.Arg9His	missense variant	-	NC_000017.11:g.44557714G>A	NCI-TCGA
rs1457585218	p.Arg9Cys	missense variant	-	NC_000017.11:g.44557713C>T	TOPMed,gnomAD
rs540777044	p.Arg9His	missense variant	-	NC_000017.11:g.44557714G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs904819812	p.Leu10Val	missense variant	-	NC_000017.11:g.44557716C>G	TOPMed
rs199790761	p.Leu12Met	missense variant	-	NC_000017.11:g.44557722C>A	ESP,ExAC,TOPMed,gnomAD
rs150027138	p.Pro13Leu	missense variant	-	NC_000017.11:g.44557726C>T	1000Genomes,TOPMed,gnomAD
rs1268657066	p.Pro18Leu	missense variant	-	NC_000017.11:g.44557741C>T	gnomAD
rs1196775603	p.Ala19Val	missense variant	-	NC_000017.11:g.44557744C>T	gnomAD
rs147715817	p.Gly21Arg	missense variant	-	NC_000017.11:g.44557749G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1409538143	p.Gly21Val	missense variant	-	NC_000017.11:g.44557750G>T	gnomAD
rs147715817	p.Gly21Arg	missense variant	-	NC_000017.11:g.44557749G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs767295801	p.Pro22Leu	missense variant	-	NC_000017.11:g.44557753C>T	ExAC,gnomAD
rs749968550	p.Phe25Leu	missense variant	-	NC_000017.11:g.44557763C>G	ExAC,gnomAD
rs779506925	p.His26Asp	missense variant	-	NC_000017.11:g.44557764C>G	ExAC,gnomAD
rs748988013	p.His26Arg	missense variant	-	NC_000017.11:g.44557765A>G	ExAC
rs1235513068	p.Gly27Glu	missense variant	-	NC_000017.11:g.44557768G>A	gnomAD
rs754611548	p.Gly27Arg	missense variant	-	NC_000017.11:g.44557767G>A	ExAC,TOPMed,gnomAD
rs754611548	p.Gly27Arg	missense variant	-	NC_000017.11:g.44557767G>C	ExAC,TOPMed,gnomAD
rs1365650986	p.Lys29Asn	missense variant	-	NC_000017.11:g.44557775G>T	TOPMed
rs1007509516	p.Ile31Leu	missense variant	-	NC_000017.11:g.44557779A>C	TOPMed
rs1286034359	p.Ile31Met	missense variant	-	NC_000017.11:g.44557781C>G	gnomAD
rs1315569415	p.Ser32Thr	missense variant	-	NC_000017.11:g.44557782T>A	gnomAD
rs1017947835	p.Ile33Met	missense variant	-	NC_000017.11:g.44557787C>G	TOPMed
rs747271499	p.His36Pro	missense variant	-	NC_000017.11:g.44557795A>C	ExAC,TOPMed,gnomAD
rs747271499	p.His36Leu	missense variant	-	NC_000017.11:g.44557795A>T	ExAC,TOPMed,gnomAD
rs1159420624	p.Gly37Cys	missense variant	-	NC_000017.11:g.44557797G>T	TOPMed
rs142583858	p.Pro41Arg	missense variant	-	NC_000017.11:g.44557810C>G	ESP,ExAC,TOPMed
rs776956114	p.Pro41Ser	missense variant	-	NC_000017.11:g.44557809C>T	ExAC,TOPMed,gnomAD
rs1483406071	p.Ser43Ala	missense variant	-	NC_000017.11:g.44557815T>G	gnomAD
rs1367854819	p.Asn53Thr	missense variant	-	NC_000017.11:g.44557846A>C	gnomAD
rs1367854819	p.Asn53Ser	missense variant	-	NC_000017.11:g.44557846A>G	gnomAD
rs909657426	p.Gln54Arg	missense variant	-	NC_000017.11:g.44557849A>G	gnomAD
rs1026329445	p.Thr55Ala	missense variant	-	NC_000017.11:g.44557851A>G	TOPMed,gnomAD
rs761463887	p.Leu60Phe	missense variant	-	NC_000017.11:g.44557866C>T	ExAC,gnomAD
COSM4931206	p.Gly62Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.44557873G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly62Arg	missense variant	-	NC_000017.11:g.44557872G>C	NCI-TCGA
rs767518136	p.Thr64Met	missense variant	-	NC_000017.11:g.44557879C>T	ExAC,gnomAD
rs750365738	p.Gln66Ter	stop gained	-	NC_000017.11:g.44557884C>T	ExAC,TOPMed,gnomAD
COSM4920990	p.Asp68Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.44557890G>T	NCI-TCGA Cosmic
rs1244482185	p.Val82Leu	missense variant	-	NC_000017.11:g.44557932G>T	gnomAD
rs1277393888	p.Gln83Pro	missense variant	-	NC_000017.11:g.44557936A>C	gnomAD
rs984920143	p.Cys84Tyr	missense variant	-	NC_000017.11:g.44557939G>A	TOPMed
rs1274579640	p.Ser85Leu	missense variant	-	NC_000017.11:g.44557942C>T	TOPMed,gnomAD
rs754629987	p.Pro86Ser	missense variant	-	NC_000017.11:g.44557944C>T	ExAC,gnomAD
COSM4066942	p.Glu87Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.44557947G>A	NCI-TCGA Cosmic
rs1182259253	p.Met95Leu	missense variant	-	NC_000017.11:g.44557971A>T	gnomAD
COSM4066943	p.Tyr96His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.44557974T>C	NCI-TCGA Cosmic
rs757523917	p.Ala97Ser	missense variant	-	NC_000017.11:g.44557977G>T	ExAC,gnomAD
NCI-TCGA novel	p.Pro98Ser	missense variant	-	NC_000017.11:g.44557980C>T	NCI-TCGA
COSM979985	p.Cys100Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.44557986T>C	NCI-TCGA Cosmic
rs1375718768	p.Glu104Lys	missense variant	-	NC_000017.11:g.44557998G>A	TOPMed
rs746414947	p.Pro108Gln	missense variant	-	NC_000017.11:g.44558011C>A	ExAC,gnomAD
rs770414415	p.Ile113Val	missense variant	-	NC_000017.11:g.44558025A>G	ExAC,TOPMed,gnomAD
rs201264228	p.Ile113Thr	missense variant	-	NC_000017.11:g.44558026T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs749318758	p.Glu115Asp	missense variant	-	NC_000017.11:g.44558033G>C	ExAC,gnomAD
rs1301874775	p.Arg116Cys	missense variant	-	NC_000017.11:g.44558034C>T	gnomAD
NCI-TCGA novel	p.Arg118ProPheSerTerUnkUnkUnk	frameshift	-	NC_000017.11:g.44558033_44558034GC>-	NCI-TCGA
NCI-TCGA novel	p.Cys121Gly	missense variant	-	NC_000017.11:g.44558049T>G	NCI-TCGA
NCI-TCGA novel	p.Glu122Lys	missense variant	-	NC_000017.11:g.44558052G>A	NCI-TCGA
rs762062345	p.Ala123Thr	missense variant	-	NC_000017.11:g.44558055G>A	ExAC,gnomAD
rs1255640347	p.Met125Val	missense variant	-	NC_000017.11:g.44558061A>G	TOPMed
rs972479309	p.Met125Thr	missense variant	-	NC_000017.11:g.44558062T>C	gnomAD
rs773045036	p.Lys127Thr	missense variant	-	NC_000017.11:g.44558068A>C	ExAC,TOPMed,gnomAD
rs760595884	p.Phe128Leu	missense variant	-	NC_000017.11:g.44558072C>G	ExAC,TOPMed,gnomAD
rs1255620991	p.Phe130Val	missense variant	-	NC_000017.11:g.44558076T>G	gnomAD
rs1474583091	p.Pro133Ala	missense variant	-	NC_000017.11:g.44558085C>G	gnomAD
rs1248571035	p.Glu134Lys	missense variant	-	NC_000017.11:g.44558088G>A	gnomAD
rs1184280246	p.Arg135His	missense variant	-	NC_000017.11:g.44558092G>A	gnomAD
rs766237073	p.Arg135Ser	missense variant	-	NC_000017.11:g.44558091C>A	ExAC,TOPMed,gnomAD
rs866001466	p.Arg137Leu	missense variant	-	NC_000017.11:g.44558098G>T	gnomAD
rs866001466	p.Arg137His	missense variant	-	NC_000017.11:g.44558098G>A	gnomAD
rs753404467	p.Glu139Lys	missense variant	-	NC_000017.11:g.44558103G>A	ExAC,gnomAD
rs1174987770	p.His140Arg	missense variant	-	NC_000017.11:g.44558107A>G	gnomAD
rs759024435	p.Pro142Leu	missense variant	-	NC_000017.11:g.44558113C>T	ExAC,TOPMed,gnomAD
rs1339240115	p.Arg143Pro	missense variant	-	NC_000017.11:g.44558116G>C	TOPMed
NCI-TCGA novel	p.Arg143His	missense variant	-	NC_000017.11:g.44558116G>A	NCI-TCGA
rs1390054192	p.Gly145Arg	missense variant	-	NC_000017.11:g.44558121G>C	gnomAD
rs144916759	p.Ala146Ser	missense variant	-	NC_000017.11:g.44558124G>T	ESP,ExAC,TOPMed,gnomAD
rs1056170782	p.Glu147Lys	missense variant	-	NC_000017.11:g.44558127G>A	TOPMed
rs1470091490	p.Gln148Glu	missense variant	-	NC_000017.11:g.44558130C>G	TOPMed
rs756747247	p.Gly152Ala	missense variant	-	NC_000017.11:g.44558143G>C	ExAC,gnomAD
rs1373700762	p.Ser156Tyr	missense variant	-	NC_000017.11:g.44558155C>A	TOPMed
rs749423345	p.Glu157Gln	missense variant	-	NC_000017.11:g.44558157G>C	ExAC,gnomAD
rs749423345	p.Glu157Lys	missense variant	-	NC_000017.11:g.44558157G>A	ExAC,gnomAD
rs768891016	p.Gly159Ter	stop gained	-	NC_000017.11:g.44558163G>T	ExAC,TOPMed,gnomAD
rs768891016	p.Gly159Arg	missense variant	-	NC_000017.11:g.44558163G>C	ExAC,TOPMed,gnomAD
rs779004987	p.Gly159Ala	missense variant	-	NC_000017.11:g.44558164G>C	ExAC,gnomAD
NCI-TCGA novel	p.Gly159Arg	missense variant	-	NC_000017.11:g.44558163G>A	NCI-TCGA
rs748334299	p.Pro161Ser	missense variant	-	NC_000017.11:g.44558169C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala162Val	missense variant	-	NC_000017.11:g.44558173C>T	NCI-TCGA
rs770903448	p.Thr165Asn	missense variant	-	NC_000017.11:g.44558182C>A	ExAC,gnomAD
rs1198566326	p.Thr166Ser	missense variant	-	NC_000017.11:g.44558185C>G	TOPMed
rs759427364	p.Ala167Val	missense variant	-	NC_000017.11:g.44558188C>T	ExAC,TOPMed,gnomAD
rs1437285040	p.Pro168Gln	missense variant	-	NC_000017.11:g.44558191C>A	gnomAD
NCI-TCGA novel	p.Pro168Leu	missense variant	-	NC_000017.11:g.44558191C>T	NCI-TCGA
rs1253611469	p.Pro169Leu	missense variant	-	NC_000017.11:g.44558194C>T	TOPMed
rs1292969671	p.Pro169Thr	missense variant	-	NC_000017.11:g.44558193C>A	gnomAD
rs1043572819	p.Leu172Val	missense variant	-	NC_000017.11:g.44558202C>G	TOPMed
rs752191369	p.Pro174Leu	missense variant	-	NC_000017.11:g.44558209C>T	ExAC,TOPMed,gnomAD
rs764673652	p.Pro174Ser	missense variant	-	NC_000017.11:g.44558208C>T	ExAC,gnomAD
rs762514513	p.Gly175Val	missense variant	-	NC_000017.11:g.44558212G>T	ExAC,TOPMed,gnomAD
rs762514513	p.Gly175Asp	missense variant	-	NC_000017.11:g.44558212G>A	ExAC,TOPMed,gnomAD
rs530418343	p.Gly177Arg	missense variant	-	NC_000017.11:g.44558217G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs530418343	p.Gly177Arg	missense variant	-	NC_000017.11:g.44558217G>A	NCI-TCGA
rs530418343	p.Gly177Arg	missense variant	-	NC_000017.11:g.44558217G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs552299284	p.Gly178Ser	missense variant	-	NC_000017.11:g.44558220G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1220216796	p.Thr179Ser	missense variant	-	NC_000017.11:g.44558224C>G	gnomAD
rs570404945	p.Pro180Ser	missense variant	-	NC_000017.11:g.44558226C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs780528773	p.Gly181Asp	missense variant	-	NC_000017.11:g.44558230G>A	ExAC,gnomAD
rs1038929261	p.Pro183Leu	missense variant	-	NC_000017.11:g.44558236C>T	TOPMed
rs1469955991	p.Gly187Ser	missense variant	-	NC_000017.11:g.44558247G>A	gnomAD
rs1184407847	p.Gly187Asp	missense variant	-	NC_000017.11:g.44558248G>A	TOPMed
rs1336876177	p.Ala188Ser	missense variant	-	NC_000017.11:g.44558250G>T	TOPMed,gnomAD
rs904495986	p.Pro189Ser	missense variant	-	NC_000017.11:g.44558253C>T	TOPMed,gnomAD
rs1416625449	p.Thr194Ala	missense variant	-	NC_000017.11:g.44558268A>G	gnomAD
NCI-TCGA novel	p.Glu196Gln	missense variant	-	NC_000017.11:g.44558274G>C	NCI-TCGA
rs532764830	p.His197Tyr	missense variant	-	NC_000017.11:g.44558277C>T	1000Genomes,ExAC,gnomAD
rs778865495	p.Phe199Leu	missense variant	-	NC_000017.11:g.44558285C>G	ExAC,gnomAD
COSM1128688	p.Phe199Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.44558285C>A	NCI-TCGA Cosmic
rs1431700816	p.Arg203Cys	missense variant	-	NC_000017.11:g.44558295C>T	gnomAD
rs1208609685	p.Arg203His	missense variant	-	NC_000017.11:g.44558296G>A	TOPMed
rs1335328160	p.Val204Ile	missense variant	-	NC_000017.11:g.44558298G>A	gnomAD
rs566397443	p.Lys206Gln	missense variant	-	NC_000017.11:g.44558304A>C	1000Genomes,ExAC,gnomAD
rs1289503825	p.Phe215Cys	missense variant	-	NC_000017.11:g.44558332T>G	gnomAD
rs1006227093	p.Gly217Ser	missense variant	-	NC_000017.11:g.44558337G>A	TOPMed,gnomAD
rs745816253	p.Gly217Asp	missense variant	-	NC_000017.11:g.44558338G>A	ExAC,TOPMed,gnomAD
rs769703330	p.Glu218Ter	stop gained	-	NC_000017.11:g.44558340G>T	ExAC,gnomAD
rs762507541	p.Arg219His	missense variant	-	NC_000017.11:g.44558344G>A	ExAC,gnomAD
rs375633511	p.Arg219Cys	missense variant	-	NC_000017.11:g.44558343C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs375633511	p.Arg219Gly	missense variant	-	NC_000017.11:g.44558343C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000736148	p.Arg219Cys	missense variant	-	NC_000017.11:g.44558343C>T	ClinVar
rs368248456	p.Ala223Val	missense variant	-	NC_000017.11:g.44558356C>T	ESP,ExAC,TOPMed,gnomAD
rs368248456	p.Ala223Val	missense variant	-	NC_000017.11:g.44558356C>T	NCI-TCGA
rs1169257475	p.Ala228Val	missense variant	-	NC_000017.11:g.44558371C>T	TOPMed,gnomAD
rs754191382	p.Ala228Ser	missense variant	-	NC_000017.11:g.44558370G>T	ExAC,gnomAD
rs1169257475	p.Ala228Val	missense variant	-	NC_000017.11:g.44558371C>T	NCI-TCGA Cosmic
rs754191382	p.Ala228Pro	missense variant	-	NC_000017.11:g.44558370G>C	ExAC,gnomAD
rs371992723	p.Arg229Leu	missense variant	-	NC_000017.11:g.44558374G>T	ESP,ExAC,TOPMed,gnomAD
rs1378636473	p.Pro230Ser	missense variant	-	NC_000017.11:g.44558376C>T	TOPMed
rs777673157	p.Asp231Asn	missense variant	-	NC_000017.11:g.44558379G>A	ExAC,gnomAD
rs777673157	p.Asp231Asn	missense variant	-	NC_000017.11:g.44558379G>A	NCI-TCGA
rs1451633742	p.Phe235Leu	missense variant	-	NC_000017.11:g.44558391T>C	gnomAD
rs1367185671	p.Ser237Ter	stop gained	-	NC_000017.11:g.44558398C>A	gnomAD
rs1234997586	p.Gln238Leu	missense variant	-	NC_000017.11:g.44558401A>T	TOPMed
rs757410006	p.Thr241Lys	missense variant	-	NC_000017.11:g.44558410C>A	ExAC,gnomAD
rs745654767	p.Arg242Pro	missense variant	-	NC_000017.11:g.44558413G>C	ExAC,gnomAD
rs1443411666	p.Ala244Val	missense variant	-	NC_000017.11:g.44558419C>T	gnomAD
rs1443411666	p.Ala244Val	missense variant	-	NC_000017.11:g.44558419C>T	NCI-TCGA Cosmic
COSM979989	p.Arg245Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.44558421C>T	NCI-TCGA Cosmic
rs775470381	p.Leu246Phe	missense variant	-	NC_000017.11:g.44558424C>T	ExAC,gnomAD
rs1466602342	p.Trp247Cys	missense variant	-	NC_000017.11:g.44558429G>T	gnomAD
rs143455997	p.Thr250Ile	missense variant	-	NC_000017.11:g.44558437C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs761564563	p.Val253Leu	missense variant	-	NC_000017.11:g.44558445G>C	ExAC,TOPMed,gnomAD
rs369254941	p.Cys256Ter	stop gained	-	NC_000017.11:g.44558456C>A	ESP,ExAC,TOPMed,gnomAD
rs1334398387	p.Ala257Thr	missense variant	-	NC_000017.11:g.44558457G>A	TOPMed,gnomAD
rs1334398387	p.Ala257Thr	missense variant	-	NC_000017.11:g.44558457G>A	NCI-TCGA
rs759922644	p.Thr259Ala	missense variant	-	NC_000017.11:g.44558463A>G	ExAC,gnomAD
rs1222893148	p.Thr262Ala	missense variant	-	NC_000017.11:g.44558472A>G	TOPMed
NCI-TCGA novel	p.Thr265Met	missense variant	-	NC_000017.11:g.44558482C>T	NCI-TCGA
rs1281130175	p.Tyr266Phe	missense variant	-	NC_000017.11:g.44558485A>T	TOPMed
COSM4823084	p.Leu267Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.44558489G>C	NCI-TCGA Cosmic
rs769050190	p.Val268Ala	missense variant	-	NC_000017.11:g.44558491T>C	ExAC,TOPMed,gnomAD
rs1330380393	p.Asp269His	missense variant	-	NC_000017.11:g.44558493G>C	TOPMed
rs753278694	p.Met270Arg	missense variant	-	NC_000017.11:g.44558497T>G	ExAC,gnomAD
rs753278694	p.Met270Thr	missense variant	-	NC_000017.11:g.44558497T>C	ExAC,gnomAD
rs1234766566	p.Arg272Leu	missense variant	-	NC_000017.11:g.44558503G>T	gnomAD
COSM979990	p.Arg272His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.44558503G>A	NCI-TCGA Cosmic
rs758781030	p.Phe273Leu	missense variant	-	NC_000017.11:g.44558507C>G	ExAC,TOPMed,gnomAD
rs764170120	p.Pro276Ser	missense variant	-	NC_000017.11:g.44558514C>T	ExAC,gnomAD
NCI-TCGA novel	p.Arg278Gln	missense variant	-	NC_000017.11:g.44558521G>A	NCI-TCGA
NCI-TCGA novel	p.Ser284Pro	missense variant	-	NC_000017.11:g.44558538T>C	NCI-TCGA
rs781375731	p.Tyr287His	missense variant	-	NC_000017.11:g.44558547T>C	ExAC,TOPMed,gnomAD
rs1445369464	p.Thr288Ala	missense variant	-	NC_000017.11:g.44558550A>G	gnomAD
rs541765661	p.Val290Met	missense variant	-	NC_000017.11:g.44558556G>A	NCI-TCGA,NCI-TCGA Cosmic
rs541765661	p.Val290Met	missense variant	-	NC_000017.11:g.44558556G>A	-
COSM5505920	p.Ser291Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.44558560C>T	NCI-TCGA Cosmic
rs1247540055	p.Ala296Val	missense variant	-	NC_000017.11:g.44558575C>T	gnomAD
NCI-TCGA novel	p.Gly297Ser	missense variant	-	NC_000017.11:g.44558577G>A	NCI-TCGA
rs540840394	p.Val299Met	missense variant	-	NC_000017.11:g.44558583G>A	1000Genomes,ExAC,gnomAD
rs540840394	p.Val299Met	missense variant	-	NC_000017.11:g.44558583G>A	NCI-TCGA,NCI-TCGA Cosmic
rs1171120457	p.Leu300Val	missense variant	-	NC_000017.11:g.44558586C>G	TOPMed
COSM706148	p.Arg303Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.44558595C>T	NCI-TCGA Cosmic
rs768414164	p.Val304Leu	missense variant	-	NC_000017.11:g.44558598G>C	ExAC,gnomAD
rs1388042136	p.Cys306Tyr	missense variant	-	NC_000017.11:g.44558605G>A	gnomAD
rs1430553474	p.Glu308Gln	missense variant	-	NC_000017.11:g.44558610G>C	TOPMed
rs771900202	p.Arg309Leu	missense variant	-	NC_000017.11:g.44558614G>T	ExAC,TOPMed,gnomAD
rs747650126	p.Arg309Ser	missense variant	-	NC_000017.11:g.44558613C>A	ExAC,gnomAD
rs770215499	p.Glu312Gln	missense variant	-	NC_000017.11:g.44558622G>C	ExAC,gnomAD
rs1348396900	p.Gly314Val	missense variant	-	NC_000017.11:g.44558629G>T	gnomAD
rs1292652015	p.Arg316Cys	missense variant	-	NC_000017.11:g.44558634C>T	gnomAD
rs1490197432	p.Arg316Leu	missense variant	-	NC_000017.11:g.44558635G>T	gnomAD
rs764576821	p.Lys323Arg	missense variant	-	NC_000017.11:g.44558656A>G	ExAC,gnomAD
rs925950278	p.Lys324Glu	missense variant	-	NC_000017.11:g.44558658A>G	gnomAD
rs925950278	p.Lys324Gln	missense variant	-	NC_000017.11:g.44558658A>C	gnomAD
rs925950278	p.Lys324Gln	missense variant	-	NC_000017.11:g.44558658A>C	NCI-TCGA Cosmic
rs1362014589	p.Leu330Ile	missense variant	-	NC_000017.11:g.44558676C>A	gnomAD
COSM1128686	p.Tyr335Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.44558693C>G	NCI-TCGA Cosmic
rs767549516	p.Ile343Val	missense variant	-	NC_000017.11:g.44558715A>G	ExAC,gnomAD
NCI-TCGA novel	p.Trp345Ter	stop gained	-	NC_000017.11:g.44558723G>A	NCI-TCGA
NCI-TCGA novel	p.Val346Ile	missense variant	-	NC_000017.11:g.44558724G>A	NCI-TCGA
NCI-TCGA novel	p.Val346Ala	missense variant	-	NC_000017.11:g.44558725T>C	NCI-TCGA
rs1422204743	p.Leu348Met	missense variant	-	NC_000017.11:g.44558730C>A	gnomAD
NCI-TCGA novel	p.Leu348Pro	missense variant	-	NC_000017.11:g.44558731T>C	NCI-TCGA
rs1283802196	p.Phe353Leu	missense variant	-	NC_000017.11:g.44558747C>G	TOPMed
rs1306672386	p.Ala355Thr	missense variant	-	NC_000017.11:g.44558751G>A	gnomAD
rs1334324882	p.Ala356Gly	missense variant	-	NC_000017.11:g.44558755C>G	gnomAD
NCI-TCGA novel	p.Gly357Ser	missense variant	-	NC_000017.11:g.44558757G>A	NCI-TCGA
COSM5531531	p.Met358Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.44558762G>A	NCI-TCGA Cosmic
COSM3518087	p.Trp360Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.44558768G>A	NCI-TCGA Cosmic
rs1316342300	p.Gly361Ser	missense variant	-	NC_000017.11:g.44558769G>A	gnomAD
rs1269731273	p.His362Arg	missense variant	-	NC_000017.11:g.44558773A>G	TOPMed
rs1220274619	p.His362Tyr	missense variant	-	NC_000017.11:g.44558772C>T	TOPMed,gnomAD
COSM1383686	p.Ala364Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.44558779C>A	NCI-TCGA Cosmic
rs778973007	p.Glu366Gly	missense variant	-	NC_000017.11:g.44558785A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu366Asp	missense variant	-	NC_000017.11:g.44558786G>T	NCI-TCGA
rs747701116	p.Asn368Thr	missense variant	-	NC_000017.11:g.44558791A>C	ExAC,gnomAD
NCI-TCGA novel	p.Asn368Ser	missense variant	-	NC_000017.11:g.44558791A>G	NCI-TCGA
rs777369808	p.His373Pro	missense variant	-	NC_000017.11:g.44558806A>C	ExAC,gnomAD
COSM1128684	p.His373Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.44558805C>T	NCI-TCGA Cosmic
rs1414226071	p.Ala376Ser	missense variant	-	NC_000017.11:g.44558814G>T	TOPMed
rs1555657045	p.Trp377Ter	stop gained	-	NC_000017.11:g.44558818G>A	-
RCV000577910	p.Trp377Ter	nonsense	Robinow syndrome, autosomal dominant 2 (DRS2)	NC_000017.11:g.44558818G>A	ClinVar
rs746685961	p.Val379Leu	missense variant	-	NC_000017.11:g.44558823G>T	ExAC,gnomAD
rs746685961	p.Val379Met	missense variant	-	NC_000017.11:g.44558823G>A	ExAC,gnomAD
rs746685961	p.Val379Met	missense variant	-	NC_000017.11:g.44558823G>A	NCI-TCGA,NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro380Leu	missense variant	-	NC_000017.11:g.44558827C>T	NCI-TCGA
rs530531830	p.Ala381Thr	missense variant	-	NC_000017.11:g.44558829G>A	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Ala381Ser	missense variant	-	NC_000017.11:g.44558829G>T	NCI-TCGA
rs1296057234	p.Val382Phe	missense variant	-	NC_000017.11:g.44558832G>T	gnomAD
NCI-TCGA novel	p.Val382Ile	missense variant	-	NC_000017.11:g.44558832G>A	NCI-TCGA
rs1420830591	p.Ile385Thr	missense variant	-	NC_000017.11:g.44558842T>C	TOPMed
rs774804882	p.Thr386Ile	missense variant	-	NC_000017.11:g.44558845C>T	ExAC,gnomAD
rs769196121	p.Thr386Ala	missense variant	-	NC_000017.11:g.44558844A>G	ExAC,TOPMed,gnomAD
rs767602533	p.Met390Ile	missense variant	-	NC_000017.11:g.44558858G>A	ExAC,TOPMed,gnomAD
rs767602533	p.Met390Ile	missense variant	-	NC_000017.11:g.44558858G>T	ExAC,TOPMed,gnomAD
rs767602533	p.Met390Ile	missense variant	-	NC_000017.11:g.44558858G>T	NCI-TCGA
rs1382604177	p.Met390Thr	missense variant	-	NC_000017.11:g.44558857T>C	gnomAD
rs1299976629	p.Gly391Ser	missense variant	-	NC_000017.11:g.44558859G>A	gnomAD
rs1299976629	p.Gly391Arg	missense variant	-	NC_000017.11:g.44558859G>C	gnomAD
rs1316059026	p.Leu398Met	missense variant	-	NC_000017.11:g.44558880C>A	TOPMed
NCI-TCGA novel	p.Val401Met	missense variant	-	NC_000017.11:g.44558889G>A	NCI-TCGA
rs1459890324	p.Phe403Leu	missense variant	-	NC_000017.11:g.44558897C>A	TOPMed,gnomAD
COSM979994	p.Val404Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.44558898G>A	NCI-TCGA Cosmic
rs1419657640	p.Leu406Phe	missense variant	-	NC_000017.11:g.44558904C>T	gnomAD
rs1427401815	p.Ser408Asn	missense variant	-	NC_000017.11:g.44558911G>A	gnomAD
rs1167951005	p.Leu409Met	missense variant	-	NC_000017.11:g.44558913C>A	gnomAD
rs765084011	p.Asp410Asn	missense variant	-	NC_000017.11:g.44558916G>A	ExAC,gnomAD
COSM1383687	p.Pro411Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.44558919C>A	NCI-TCGA Cosmic
rs371409349	p.Leu412Met	missense variant	-	NC_000017.11:g.44558922C>A	ESP,ExAC,TOPMed
rs758351214	p.Arg413Gln	missense variant	-	NC_000017.11:g.44558926G>A	ExAC,TOPMed,gnomAD
rs777341173	p.Gly414Asp	missense variant	-	NC_000017.11:g.44558929G>A	ExAC,TOPMed,gnomAD
rs746494673	p.Val416Leu	missense variant	-	NC_000017.11:g.44558934G>C	ExAC,gnomAD
NCI-TCGA novel	p.Ala418Val	missense variant	-	NC_000017.11:g.44558941C>T	NCI-TCGA
rs1455744194	p.Leu420His	missense variant	-	NC_000017.11:g.44558947T>A	gnomAD
rs1383973704	p.Phe421Leu	missense variant	-	NC_000017.11:g.44558951C>G	TOPMed
rs1339183245	p.Val422Met	missense variant	-	NC_000017.11:g.44558952G>A	TOPMed
rs1339183245	p.Val422Met	missense variant	-	NC_000017.11:g.44558952G>A	NCI-TCGA Cosmic
rs1451148515	p.Tyr423Ter	stop gained	-	NC_000017.11:g.44558957C>A	gnomAD
NCI-TCGA novel	p.Phe425Leu	missense variant	-	NC_000017.11:g.44558963C>G	NCI-TCGA
rs756989889	p.Ile426Phe	missense variant	-	NC_000017.11:g.44558964A>T	ExAC,gnomAD
rs756989889	p.Ile426Val	missense variant	-	NC_000017.11:g.44558964A>G	ExAC,gnomAD
COSM472889	p.Gly427Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.44558968G>A	NCI-TCGA Cosmic
COSM3889742	p.Ser429Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.44558974C>T	NCI-TCGA Cosmic
rs1555657074	p.Gly434Val	missense variant	-	NC_000017.11:g.44558989_44558990delinsTT	-
rs1555657073	p.Gly434Val	missense variant	-	NC_000017.11:g.44558989G>T	-
rs1555657073	p.Gly434Val	missense variant	Omodysplasia 2 (OMOD2)	NC_000017.11:g.44558989G>T	UniProt,dbSNP
VAR_081993	p.Gly434Val	missense variant	Omodysplasia 2 (OMOD2)	NC_000017.11:g.44558989G>T	UniProt
RCV000577879	p.Gly434Val	missense variant	Robinow syndrome, autosomal dominant 2 (DRS2)	NC_000017.11:g.44558989_44558990delinsTT	ClinVar
RCV000577904	p.Gly434Ser	missense variant	Robinow syndrome, autosomal dominant 2 (DRS2)	NC_000017.11:g.44558988G>A	ClinVar
rs1223920489	p.Gly434Ser	missense variant	-	NC_000017.11:g.44558988G>A	gnomAD
RCV000577887	p.Gly434Val	missense variant	Robinow syndrome, autosomal dominant 3 (DRS3)	NC_000017.11:g.44558989G>T	ClinVar
rs769034717	p.Val436Met	missense variant	-	NC_000017.11:g.44558994G>A	ExAC,gnomAD
rs201422597	p.Phe439Leu	missense variant	-	NC_000017.11:g.44559005C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs773401045	p.Arg440His	missense variant	-	NC_000017.11:g.44559007G>A	ExAC,gnomAD
NCI-TCGA novel	p.Arg440Leu	missense variant	-	NC_000017.11:g.44559007G>T	NCI-TCGA
rs867681109	p.Arg442Cys	missense variant	-	NC_000017.11:g.44559012C>T	-
rs770035472	p.Arg442His	missense variant	-	NC_000017.11:g.44559013G>A	NCI-TCGA,NCI-TCGA Cosmic
rs867681109	p.Arg442Cys	missense variant	-	NC_000017.11:g.44559012C>T	NCI-TCGA Cosmic
rs770035472	p.Arg442His	missense variant	-	NC_000017.11:g.44559013G>A	-
rs760651150	p.Ile444Leu	missense variant	-	NC_000017.11:g.44559018A>C	ExAC,gnomAD
rs766665442	p.Ile444Thr	missense variant	-	NC_000017.11:g.44559019T>C	ExAC,TOPMed,gnomAD
rs1161069652	p.Met445Val	missense variant	-	NC_000017.11:g.44559021A>G	TOPMed
rs776751080	p.Met445Lys	missense variant	-	NC_000017.11:g.44559022T>A	ExAC,gnomAD
NCI-TCGA novel	p.Lys446Asn	missense variant	-	NC_000017.11:g.44559026G>T	NCI-TCGA
rs1480532152	p.Asp448Tyr	missense variant	-	NC_000017.11:g.44559030G>T	gnomAD
rs772323293	p.Asp448Gly	missense variant	-	NC_000017.11:g.44559031A>G	ExAC,gnomAD
rs773532997	p.Gly449Arg	missense variant	-	NC_000017.11:g.44559033G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly449Ser	missense variant	-	NC_000017.11:g.44559033G>A	NCI-TCGA
rs758474512	p.Lys451Thr	missense variant	-	NC_000017.11:g.44559040A>C	ExAC,gnomAD
NCI-TCGA novel	p.Lys451Glu	missense variant	-	NC_000017.11:g.44559039A>G	NCI-TCGA
NCI-TCGA novel	p.Glu453Lys	missense variant	-	NC_000017.11:g.44559045G>A	NCI-TCGA
rs1346236408	p.Glu456Gln	missense variant	-	NC_000017.11:g.44559054G>C	gnomAD
rs141791958	p.Arg457Gln	missense variant	-	NC_000017.11:g.44559058G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM4066946	p.Arg457Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.44559057C>T	NCI-TCGA Cosmic
rs756686384	p.Val460Leu	missense variant	-	NC_000017.11:g.44559066G>C	ExAC,TOPMed,gnomAD
rs756686384	p.Val460Met	missense variant	-	NC_000017.11:g.44559066G>A	ExAC,TOPMed,gnomAD
rs780709416	p.Arg461Pro	missense variant	-	NC_000017.11:g.44559070G>C	ExAC,gnomAD
rs780709416	p.Arg461Leu	missense variant	-	NC_000017.11:g.44559070G>T	ExAC,gnomAD
COSM1479638	p.Arg461His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.44559070G>A	NCI-TCGA Cosmic
COSM4066947	p.Arg461Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.44559069C>T	NCI-TCGA Cosmic
rs1343473493	p.Ile462Leu	missense variant	-	NC_000017.11:g.44559072A>C	gnomAD
rs779319509	p.Gly463Ser	missense variant	-	NC_000017.11:g.44559075G>A	ExAC
rs748501689	p.Val464Ile	missense variant	-	NC_000017.11:g.44559078G>A	ExAC,TOPMed,gnomAD
rs1316230624	p.Val464Asp	missense variant	-	NC_000017.11:g.44559079T>A	gnomAD
NCI-TCGA novel	p.Val464Ala	missense variant	-	NC_000017.11:g.44559079T>C	NCI-TCGA
rs1213062571	p.Ser466Thr	missense variant	-	NC_000017.11:g.44559084T>A	gnomAD
rs970175049	p.Val467Leu	missense variant	-	NC_000017.11:g.44559087G>C	TOPMed
rs1490369116	p.Val467Glu	missense variant	-	NC_000017.11:g.44559088T>A	gnomAD
rs970175049	p.Val467Met	missense variant	-	NC_000017.11:g.44559087G>A	TOPMed
rs1266251835	p.Leu468Ile	missense variant	-	NC_000017.11:g.44559090C>A	gnomAD
RCV000736149	p.Leu468Arg	missense variant	-	NC_000017.11:g.44559091T>G	ClinVar
rs770938713	p.Thr470Ala	missense variant	-	NC_000017.11:g.44559096A>G	ExAC,gnomAD
rs966344285	p.Pro472Leu	missense variant	-	NC_000017.11:g.44559103C>T	TOPMed,gnomAD
rs1373093730	p.Thr474Ile	missense variant	-	NC_000017.11:g.44559109C>T	TOPMed
NCI-TCGA novel	p.Thr474Asn	missense variant	-	NC_000017.11:g.44559109C>A	NCI-TCGA
rs759841056	p.Ile475Val	missense variant	-	NC_000017.11:g.44559111A>G	ExAC,gnomAD
COSM4066949	p.Val476Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.44559115T>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Val476Ala	missense variant	-	NC_000017.11:g.44559115T>C	NCI-TCGA
rs765550610	p.Ile477Thr	missense variant	-	NC_000017.11:g.44559118T>C	ExAC,gnomAD
rs762816431	p.Tyr482Ter	stop gained	-	NC_000017.11:g.44559134C>A	ExAC,gnomAD
rs775481151	p.Tyr482His	missense variant	-	NC_000017.11:g.44559132T>C	ExAC,gnomAD
rs866012347	p.Glu483Lys	missense variant	-	NC_000017.11:g.44559135G>A	NCI-TCGA Cosmic
rs866012347	p.Glu483Lys	missense variant	-	NC_000017.11:g.44559135G>A	-
rs1363873560	p.Ala485Thr	missense variant	-	NC_000017.11:g.44559141G>A	gnomAD
NCI-TCGA novel	p.Arg487His	missense variant	-	NC_000017.11:g.44559148G>A	NCI-TCGA
rs1355758683	p.His489Arg	missense variant	-	NC_000017.11:g.44559154A>G	TOPMed
COSM3518092	p.Trp490Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.44559158G>A	NCI-TCGA Cosmic
rs926219317	p.Glu491Lys	missense variant	-	NC_000017.11:g.44559159G>A	TOPMed,gnomAD
rs751478883	p.Arg492Cys	missense variant	-	NC_000017.11:g.44559162C>T	ExAC,gnomAD
rs751478883	p.Arg492Cys	missense variant	-	NC_000017.11:g.44559162C>T	NCI-TCGA,NCI-TCGA Cosmic
rs1423453742	p.Ser493Leu	missense variant	-	NC_000017.11:g.44559166C>T	NCI-TCGA Cosmic
rs1423453742	p.Ser493Leu	missense variant	-	NC_000017.11:g.44559166C>T	TOPMed
rs1385421964	p.Val495Met	missense variant	-	NC_000017.11:g.44559171G>A	TOPMed
NCI-TCGA novel	p.Gln497His	missense variant	-	NC_000017.11:g.44559179G>T	NCI-TCGA
rs761755955	p.His498Arg	missense variant	-	NC_000017.11:g.44559181A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Cys499Tyr	missense variant	-	NC_000017.11:g.44559184G>A	NCI-TCGA
rs1359549333	p.Ser501Asn	missense variant	-	NC_000017.11:g.44559190G>A	gnomAD
rs749932584	p.Ala503Val	missense variant	-	NC_000017.11:g.44559196C>T	ExAC,gnomAD
rs749932584	p.Ala503Val	missense variant	-	NC_000017.11:g.44559196C>T	NCI-TCGA
NCI-TCGA novel	p.Ile504Val	missense variant	-	NC_000017.11:g.44559198A>G	NCI-TCGA
rs548910133	p.Pro507Leu	missense variant	-	NC_000017.11:g.44559208C>T	1000Genomes,ExAC,gnomAD
rs779659041	p.Pro507Ser	missense variant	-	NC_000017.11:g.44559207C>T	ExAC,gnomAD
rs138090948	p.Ala508Val	missense variant	-	NC_000017.11:g.44559211C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1445321703	p.Tyr510His	missense variant	-	NC_000017.11:g.44559216T>C	gnomAD
rs1238294571	p.Pro512Gln	missense variant	-	NC_000017.11:g.44559223C>A	TOPMed
NCI-TCGA novel	p.Pro512Leu	missense variant	-	NC_000017.11:g.44559223C>T	NCI-TCGA
rs974602506	p.Arg513His	missense variant	-	NC_000017.11:g.44559226G>A	TOPMed
rs1183159973	p.Met514Val	missense variant	-	NC_000017.11:g.44559228A>G	gnomAD
rs781487182	p.Asp517Asn	missense variant	-	NC_000017.11:g.44559237G>A	ExAC,gnomAD
rs988811820	p.Thr519Ala	missense variant	-	NC_000017.11:g.44559243A>G	gnomAD
rs988811820	p.Thr519Ser	missense variant	-	NC_000017.11:g.44559243A>T	gnomAD
rs922721167	p.Tyr521Cys	missense variant	-	NC_000017.11:g.44559250A>G	TOPMed,gnomAD
COSM6146946	p.Tyr521Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.44559249T>A	NCI-TCGA Cosmic
rs1338626837	p.Met522Val	missense variant	-	NC_000017.11:g.44559252A>G	TOPMed,gnomAD
rs1338626837	p.Met522Leu	missense variant	-	NC_000017.11:g.44559252A>C	TOPMed,gnomAD
rs1383384153	p.Ile523Val	missense variant	-	NC_000017.11:g.44559255A>G	gnomAD
rs1049775007	p.Thr528Met	missense variant	-	NC_000017.11:g.44559271C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Val531Ala	missense variant	-	NC_000017.11:g.44559280T>C	NCI-TCGA
rs1047612015	p.Ile533Val	missense variant	-	NC_000017.11:g.44559285A>G	TOPMed
NCI-TCGA novel	p.Phe537Leu	missense variant	-	NC_000017.11:g.44559299C>G	NCI-TCGA
rs1304561617	p.Trp538Arg	missense variant	-	NC_000017.11:g.44559300T>C	TOPMed
COSM3518094	p.Trp538Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.44559302G>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Trp538Cys	missense variant	-	NC_000017.11:g.44559302G>T	NCI-TCGA
rs1344385392	p.Trp540Ter	stop gained	-	NC_000017.11:g.44559307G>A	TOPMed
rs1437629201	p.Trp540Arg	missense variant	-	NC_000017.11:g.44559306T>C	gnomAD
NCI-TCGA novel	p.Trp540Ser	missense variant	-	NC_000017.11:g.44559307G>C	NCI-TCGA
rs1462119468	p.His546Gln	missense variant	-	NC_000017.11:g.44559326C>G	TOPMed,gnomAD
rs1420668927	p.His546Tyr	missense variant	-	NC_000017.11:g.44559324C>T	TOPMed
VAR_081994	p.Ser547_Val565del	inframe_deletion	Omodysplasia 2 (OMOD2) [MIM:164745]	-	UniProt
RCV000754771	p.Trp548Ter	nonsense	Omodysplasia 2 (OMOD2)	NC_000017.11:g.44559332G>A	ClinVar
VAR_081995	p.Trp548_Val565del	inframe_deletion	Omodysplasia 2 (OMOD2) [MIM:164745]	-	UniProt
rs942022627	p.Arg549Lys	missense variant	-	NC_000017.11:g.44559334G>A	TOPMed
rs761727833	p.Lys550Arg	missense variant	-	NC_000017.11:g.44559337A>G	ExAC,gnomAD
rs201750182	p.Thr553Ile	missense variant	-	NC_000017.11:g.44559346C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs749987687	p.Arg554Leu	missense variant	-	NC_000017.11:g.44559349G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg554His	missense variant	-	NC_000017.11:g.44559349G>A	NCI-TCGA
rs1178260886	p.Leu555Phe	missense variant	-	NC_000017.11:g.44559351C>T	gnomAD
rs144687330	p.Arg559Gly	missense variant	-	NC_000017.11:g.44559363C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs753511101	p.Arg559Leu	missense variant	-	NC_000017.11:g.44559364G>T	ExAC,TOPMed,gnomAD
rs753511101	p.Arg559Gln	missense variant	-	NC_000017.11:g.44559364G>A	ExAC,TOPMed,gnomAD
rs1038724972	p.His560Gln	missense variant	-	NC_000017.11:g.44559368C>G	TOPMed,gnomAD
rs148517314	p.Gly561Ser	missense variant	-	NC_000017.11:g.44559369G>A	NCI-TCGA
rs148517314	p.Gly561Ser	missense variant	-	NC_000017.11:g.44559369G>A	ESP,gnomAD
rs1213204785	p.Thr563Ile	missense variant	-	NC_000017.11:g.44559376C>T	gnomAD
rs1213204785	p.Thr563Ile	missense variant	-	NC_000017.11:g.44559376C>T	NCI-TCGA
rs1265443674	p.Val565Leu	missense variant	-	NC_000017.11:g.44559381G>T	gnomAD
rs1370092002	p.Val565Gly	missense variant	-	NC_000017.11:g.44559382T>G	gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0007102	Malignant tumor of colon	disease	CTD_human
C0009375	Colonic Neoplasms	group	CTD_human
C0010417	Cryptorchidism	disease	HPO
C0013336	Dwarfism	disease	HPO
C0014859	Esophageal Neoplasms	group	BEFREE
C0015300	Exophthalmos	disease	HPO
C0017566	Gingival Hyperplasia	phenotype	HPO
C0017567	Gingival Hypertrophy	disease	HPO
C0017638	Glioma	disease	BEFREE
C0019322	Umbilical hernia	phenotype	HPO
C0020534	Orbital separation excessive	phenotype	HPO
C0024623	Malignant neoplasm of stomach	disease	BEFREE
C0025149	Medulloblastoma	disease	BEFREE
C0025990	Micrognathism	disease	HPO
C0025995	Micromelia	disease	HPO
C0027051	Myocardial Infarction	disease	RGD
C0032580	Adenomatous Polyposis Coli	disease	BEFREE
C0033860	Psoriasis	disease	BEFREE
C0042133	Uterine Fibroids	group	BEFREE
C0152018	Esophageal carcinoma	disease	BEFREE
C0221354	Frontal bossing	disease	HPO
C0221357	Brachydactyly	disease	HPO
C0235833	Congenital diaphragmatic hernia	disease	BEFREE
C0265205	Robinow Syndrome	disease	ORPHANET
C0265677	Congenital hemivertebra	disease	HPO
C0266061	Open Bite	phenotype	HPO
C0266111	Bifid tongue	disease	HPO
C0266435	Congenital hypoplasia of penis	disease	HPO
C0341787	Bifid scrotum	disease	HPO
C0376480	Gingival Overgrowth	phenotype	HPO
C0423109	Upward slant of palpebral fissure	phenotype	HPO
C0426414	Small nose	phenotype	HPO
C0426421	Wide nose	phenotype	HPO
C0546837	Malignant neoplasm of esophagus	disease	BEFREE
C0559483	Pentalogy of Cantrell	disease	BEFREE
C0566899	Small labia majora	phenotype	HPO
C0678230	Congenital Epicanthus	disease	HPO
C0699791	Stomach Carcinoma	disease	BEFREE
C1303001	Congenital euryblepharon	disease	HPO
C1403299	Radiohumeral dislocation	phenotype	HPO
C1403321	Ulnohumeral dislocation	phenotype	HPO
C1458155	Mammary Neoplasms	group	BEFREE
C1800706	Idiopathic Pulmonary Fibrosis	disease	BEFREE
C1832117	Short humerus	phenotype	HPO
C1836542	Depressed nasal bridge	phenotype	HPO
C1837260	Prominent forehead	phenotype	HPO
C1837404	High, narrow palate	phenotype	HPO
C1837760	Prominent eyes	phenotype	HPO
C1839764	Broad flat nasal bridge	phenotype	HPO
C1840077	Anteverted nostril	phenotype	HPO
C1843108	Short palm	phenotype	HPO
C1844527	Clitoral hypoplasia	phenotype	HPO
C1848490	Protruding eyes	phenotype	HPO
C1849295	Hypoplastic labia minora	phenotype	HPO
C1849311	Short 1st metacarpal	phenotype	HPO
C1849340	Long palpebral fissure	phenotype	HPO
C1849367	Nasal bridge wide	phenotype	HPO
C1850049	Clinodactyly of the 5th finger	disease	HPO
C1853242	Midface retrusion	phenotype	HPO
C1853738	Long eyelashes	phenotype	HPO
C1854114	Short nose	phenotype	HPO
C1857130	Hypoplastic mandible condyle	phenotype	HPO
C1858085	Malar flattening	phenotype	HPO
C1862425	Prominent globes	phenotype	HPO
C1865014	Long philtrum	phenotype	HPO
C1866195	Downturned corners of mouth	phenotype	HPO
C1866730	Rhizomelia	disease	HPO
C1867446	Bulging forehead	phenotype	HPO
C2051831	Pectus excavatum	phenotype	HPO
C2239176	Liver carcinoma	disease	BEFREE
C2673410	Small midface	phenotype	HPO
C2673670	Curly eyelashes	phenotype	HPO
C2720437	Dislocation of elbow joint	phenotype	HPO
C2750355	Omodysplasia 2	disease	ORPHANET
C2750604	Median cleft lip and palate	disease	HPO
C3494422	Retrognathia	phenotype	HPO
C3550546	Depressed nasal root/bridge	phenotype	HPO
C4024589	Aplasia/Hypoplasia of the mandible	phenotype	HPO
C4083076	Increased head circumference	phenotype	HPO
C4255098	Cleft tongue	phenotype	HPO
C4255213	Increased size of skull	phenotype	HPO
C4280305	Kabuki syndrome eyelids	phenotype	HPO
C4280320	Hypotrophic midface	phenotype	HPO
C4280321	Decreased projection of midface	phenotype	HPO
C4280495	Concave bridge of nose	phenotype	HPO
C4280538	Curvature of little finger	phenotype	HPO
C4280651	Hypotrophic malar bone	phenotype	HPO
C4280664	Big calvaria	phenotype	HPO
C4476522	Oral soft tissue hyperplasia	phenotype	HPO
C4476523	Decreased projection of lower jaw	phenotype	HPO
C4476524	Decreased projection of mandible	phenotype	HPO
C4476525	Retrusion of lower jaw	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0004930	G protein-coupled receptor activity	IEA
GO:0005515	protein binding	IPI
GO:0017147	Wnt-protein binding	IBA
GO:0017147	Wnt-protein binding	NAS
GO:0030165	PDZ domain binding	IPI
GO:0042813	Wnt-activated receptor activity	IBA
GO:0042813	Wnt-activated receptor activity	NAS
GO:0042813	Wnt-activated receptor activity	IDA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0003149	membranous septum morphogenesis	IEA
GO:0003150	muscular septum morphogenesis	IEA
GO:0003151	outflow tract morphogenesis	IEA
GO:0007186	G protein-coupled receptor signaling pathway	IEA
GO:0007223	Wnt signaling pathway, calcium modulating pathway	TAS
GO:0007608	sensory perception of smell	IEA
GO:0030182	neuron differentiation	ISS
GO:0030855	epithelial cell differentiation	IEA
GO:0045745	positive regulation of G protein-coupled receptor signaling pathway	IMP
GO:0045893	positive regulation of transcription, DNA-templated	IDA
GO:0051091	positive regulation of DNA-binding transcription factor activity	IDA
GO:0060022	hard palate development	IEA
GO:0060070	canonical Wnt signaling pathway	IDA
GO:0060070	canonical Wnt signaling pathway	IBA
GO:0060071	Wnt signaling pathway, planar cell polarity pathway	NAS
GO:0060071	Wnt signaling pathway, planar cell polarity pathway	TAS
GO:0060119	inner ear receptor cell development	IEA
GO:0090103	cochlea morphogenesis	IEA
GO:0090179	planar cell polarity pathway involved in neural tube closure	IEA
GO:1904886	beta-catenin destruction complex disassembly	TAS

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005737	cytoplasm	IDA
GO:0005886	plasma membrane	IDA
GO:0005886	plasma membrane	IBA
GO:0005886	plasma membrane	TAS
GO:0005925	focal adhesion	HDA
GO:0016021	integral component of membrane	IBA
GO:0030669	clathrin-coated endocytic vesicle membrane	TAS

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-162582	Signal Transduction	TAS
R-HSA-162582	Signal Transduction	IEA
R-HSA-195721	Signaling by WNT	TAS
R-HSA-195721	Signaling by WNT	IEA
R-HSA-201681	TCF dependent signaling in response to WNT	TAS
R-HSA-201681	TCF dependent signaling in response to WNT	IEA
R-HSA-372790	Signaling by GPCR	IEA
R-HSA-373080	Class B/2 (Secretin family receptors)	IEA
R-HSA-3858494	Beta-catenin independent WNT signaling	TAS
R-HSA-3858494	Beta-catenin independent WNT signaling	IEA
R-HSA-4086398	Ca2+ pathway	TAS
R-HSA-4086398	Ca2+ pathway	IEA
R-HSA-4086400	PCP/CE pathway	TAS
R-HSA-4608870	Asymmetric localization of PCP proteins	TAS
R-HSA-4641262	Disassembly of the destruction complex and recruitment of AXIN to the membrane	TAS
R-HSA-4641262	Disassembly of the destruction complex and recruitment of AXIN to the membrane	IEA
R-HSA-500792	GPCR ligand binding	IEA
R-HSA-5140745	WNT5A-dependent internalization of FZD2, FZD5 and ROR2	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
D015056	1-Methyl-3-isobutylxanthine	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bis(4-hydroxyphenyl)sulfone] results in decreased expression of FZD2 mRNA	28628672
D015056	1-Methyl-3-isobutylxanthine	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of FZD2 mRNA	28628672
D015056	1-Methyl-3-isobutylxanthine	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of FZD2 mRNA	28628672
D015056	1-Methyl-3-isobutylxanthine	[Dexamethasone co-treated with Rosiglitazone co-treated with 1-Methyl-3-isobutylxanthine co-treated with INS1 protein] results in decreased expression of FZD2 mRNA	16054899
D015056	1-Methyl-3-isobutylxanthine	EGF protein inhibits the reaction [[Dexamethasone co-treated with Rosiglitazone co-treated with 1-Methyl-3-isobutylxanthine co-treated with INS1 protein] results in decreased expression of FZD2 mRNA]	16054899
D015056	1-Methyl-3-isobutylxanthine	Tetrachlorodibenzodioxin inhibits the reaction [[Dexamethasone co-treated with Rosiglitazone co-treated with 1-Methyl-3-isobutylxanthine co-treated with INS1 protein] results in decreased expression of FZD2 mRNA]	16054899
C051246	1-methylanthracene	[1-methylanthracene co-treated with fluoranthene] results in decreased expression of FZD2 mRNA	28329830
C029955	2-nitrotoluene	2-nitrotoluene results in decreased expression of FZD2 mRNA	16460773
C472791	3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid	3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid results in decreased expression of FZD2 mRNA	16788091
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of FZD2 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of FZD2 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of FZD2 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of FZD2 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of FZD2 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Vorinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of FZD2 mRNA	27188386
C517041	(4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II)	(4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II) results in decreased expression of FZD2 mRNA	19561079
D015123	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide affects the expression of FZD2 mRNA	20382639
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of FZD2 gene	27153756
D000077410	Aluminum Chloride	Aluminum Chloride results in decreased activity of FZD2 protein	26474975
D000077410	Aluminum Chloride	Aluminum Chloride results in decreased expression of FZD2 mRNA	26474975
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of FZD2 mRNA	16483693
D018501	Antirheumatic Agents	Antirheumatic Agents results in decreased expression of FZD2 mRNA	24449571
D001205	Ascorbic Acid	[Quercetin co-treated with Ascorbic Acid] results in increased expression of FZD2 mRNA	17639512
C049935	avobenzone	avobenzone results in increased expression of FZD2 mRNA	31016361
C547126	AZM551248	AZM551248 results in increased expression of FZD2 mRNA	22323515
D001564	Benzo(a)pyrene	AHR protein inhibits the reaction [Benzo(a)pyrene results in decreased expression of FZD2 mRNA]	15034205
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of FZD2 mRNA	15034205
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of FZD2 mRNA	21839799
C044887	beta-methylcholine	beta-methylcholine affects the expression of FZD2 mRNA	21179406
C543008	bis(4-hydroxyphenyl)sulfone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bis(4-hydroxyphenyl)sulfone] results in decreased expression of FZD2 mRNA	28628672
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of FZD2 mRNA	30951980
C006780	bisphenol A	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of FZD2 mRNA	28628672
C006780	bisphenol A	bisphenol A results in increased expression of FZD2 mRNA	24465770
C006780	bisphenol A	[potassium bromate co-treated with bisphenol A] affects the expression of FZD2 mRNA	27082013
C006780	bisphenol A	[XRCC6 gene mutant form results in increased susceptibility to potassium bromate] affects the reaction [[potassium bromate co-treated with bisphenol A] affects the expression of FZD2 mRNA]	27082013
C006780	bisphenol A	bisphenol A affects the expression of FZD2 mRNA	25181051
C000611646	bisphenol F	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of FZD2 mRNA	28628672
C000611646	bisphenol F	bisphenol F results in increased expression of FZD2 mRNA	30951980
D000069286	Bortezomib	[BRCA1 mutant form results in increased susceptibility to Bortezomib] which results in decreased expression of FZD2 mRNA	25522274
C099813	bromochloroacetic acid	bromochloroacetic acid results in decreased expression of FZD2 mRNA	16460773
D002104	Cadmium	Cadmium results in decreased expression of FZD2 mRNA	23369406
D019256	Cadmium Chloride	Cadmium Chloride results in increased expression of FZD2 mRNA	20478370
D002220	Carbamazepine	Carbamazepine affects the expression of FZD2 mRNA	25979313
D002251	Carbon Tetrachloride	Carbon Tetrachloride affects the expression of FZD2 mRNA	17484886
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in increased expression of FZD2 mRNA	16780995
D002737	Chloroprene	Chloroprene results in decreased expression of FZD2 mRNA	23125180
C012843	cinnamic aldehyde	cinnamic aldehyde results in increased expression of FZD2 mRNA	17178418
D002945	Cisplatin	[Cisplatin co-treated with jinfukang] results in decreased expression of FZD2 mRNA	27392435
D002945	Cisplatin	Cisplatin results in decreased expression of FZD2 mRNA	27392435
D003375	Coumestrol	[Coumestrol co-treated with Resveratrol] results in decreased expression of FZD2 mRNA	19167446
D016572	Cyclosporine	Cyclosporine results in increased expression of FZD2 mRNA	20106945
D000077209	Decitabine	Decitabine results in increased expression of FZD2 mRNA	27915011
D003907	Dexamethasone	Dexamethasone results in decreased expression of FZD2 mRNA	25047013
D003907	Dexamethasone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bis(4-hydroxyphenyl)sulfone] results in decreased expression of FZD2 mRNA	28628672
D003907	Dexamethasone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of FZD2 mRNA	28628672
D003907	Dexamethasone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of FZD2 mRNA	28628672
D003907	Dexamethasone	[Dexamethasone co-treated with Rosiglitazone co-treated with 1-Methyl-3-isobutylxanthine co-treated with INS1 protein] results in decreased expression of FZD2 mRNA	16054899
D003907	Dexamethasone	EGF protein inhibits the reaction [[Dexamethasone co-treated with Rosiglitazone co-treated with 1-Methyl-3-isobutylxanthine co-treated with INS1 protein] results in decreased expression of FZD2 mRNA]	16054899
D003907	Dexamethasone	Tetrachlorodibenzodioxin inhibits the reaction [[Dexamethasone co-treated with Rosiglitazone co-treated with 1-Methyl-3-isobutylxanthine co-treated with INS1 protein] results in decreased expression of FZD2 mRNA]	16054899
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in decreased expression of FZD2 mRNA	21266533
D004026	Dieldrin	Dieldrin results in increased expression of FZD2 mRNA	19130878
C058705	diethyl malate	diethyl malate affects the expression of FZD2 mRNA	24814887
D004054	Diethylstilbestrol	Diethylstilbestrol results in increased expression of FZD2 mRNA	15766595
C516138	dorsomorphin	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of FZD2 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of FZD2 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of FZD2 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of FZD2 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of FZD2 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Vorinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of FZD2 mRNA	27188386
D004317	Doxorubicin	Doxorubicin results in increased expression of FZD2 mRNA	29803840
D004726	Endosulfan	Endosulfan results in decreased expression of FZD2 mRNA	29391264
C118739	entinostat	entinostat results in decreased expression of FZD2 mRNA	26272509
C118739	entinostat	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of FZD2 mRNA	27188386
C045651	epigallocatechin gallate	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of FZD2 mRNA	22079256
C472787	erucylphospho-N,N,N-trimethylpropylammonium	erucylphospho-N,N,N-trimethylpropylammonium results in decreased expression of FZD2 mRNA	29464035
D004958	Estradiol	Estradiol affects the expression of FZD2 mRNA	14699072
D000431	Ethanol	Ethanol affects the expression of FZD2 mRNA	30319688
D000431	Ethanol	Ethanol results in increased expression of FZD2 mRNA	30319688
D017313	Fenretinide	Fenretinide results in decreased expression of FZD2 mRNA	28973697
D017313	Fenretinide	Fenretinide results in increased expression of FZD2 mRNA	28973697
C007738	fluoranthene	[1-methylanthracene co-treated with fluoranthene] results in decreased expression of FZD2 mRNA	28329830
C007738	fluoranthene	fluoranthene results in decreased expression of FZD2 mRNA	28329830
D005472	Fluorouracil	FZD2 protein affects the susceptibility to Fluorouracil	16217747
C069837	fullerene C60	fullerene C60 results in increased expression of FZD2 mRNA	19167457
C039281	furan	furan results in decreased methylation of FZD2 gene	27387713
C039281	furan	furan results in increased expression of FZD2 mRNA	27387713
D006108	Graphite	Graphite affects the expression of FZD2 mRNA	29933104
D006861	Hydrogen Peroxide	Hydrogen Peroxide affects the expression of FZD2 mRNA	20044591
C031927	hydroquinone	hydroquinone results in decreased expression of FZD2 mRNA	31256213
C492448	ICG 001	ICG 001 results in decreased expression of FZD2 mRNA	26191083
D007213	Indomethacin	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bis(4-hydroxyphenyl)sulfone] results in decreased expression of FZD2 mRNA	28628672
D007213	Indomethacin	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of FZD2 mRNA	28628672
D007213	Indomethacin	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of FZD2 mRNA	28628672
C544151	jinfukang	[Cisplatin co-treated with jinfukang] results in decreased expression of FZD2 mRNA	27392435
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in decreased expression of FZD2 mRNA	26830473
D008627	Mercuric Chloride	Mercuric Chloride affects the expression of FZD2 mRNA	20353558
D008727	Methotrexate	Methotrexate results in decreased expression of FZD2 mRNA	17379860
C004925	methylmercuric chloride	methylmercuric chloride results in decreased expression of FZD2 mRNA	28001369
D008942	Mitoxantrone	FZD2 protein affects the susceptibility to Mitoxantrone	16217747
C028007	nickel monoxide	nickel monoxide results in increased expression of FZD2 mRNA	19167457
C029938	nickel sulfate	nickel sulfate results in decreased expression of FZD2 mRNA	16100012; 16166746;
D009534	Niclosamide	Niclosamide results in decreased expression of FZD2 mRNA	22576131
D018817	N-Methyl-3,4-methylenedioxyamphetamine	N-Methyl-3,4-methylenedioxyamphetamine results in increased expression of FZD2 mRNA	20188158
D010126	Ozone	Ozone results in decreased expression of FZD2 mRNA	17460151
D000077767	Panobinostat	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of FZD2 mRNA	27188386
D000077767	Panobinostat	Panobinostat results in decreased expression of FZD2 mRNA	26272509
D020245	p-Chloromercuribenzoic Acid	p-Chloromercuribenzoic Acid results in decreased expression of FZD2 mRNA	26272509
C023036	perfluorooctanoic acid	perfluorooctanoic acid results in increased expression of FZD2 protein	31445018
C023036	perfluorooctanoic acid	PPARA protein affects the reaction [perfluorooctanoic acid results in increased expression of FZD2 protein]	31445018
D010662	Phenylmercuric Acetate	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of FZD2 mRNA	27188386
D010662	Phenylmercuric Acetate	Phenylmercuric Acetate results in decreased expression of FZD2 mRNA	26272509
D010705	Phosgene	Phosgene affects the expression of FZD2 mRNA	16300373
D010852	Picrotoxin	Picrotoxin results in increased expression of FZD2 mRNA	15170462
C060540	polyhexamethyleneguanidine	polyhexamethyleneguanidine affects the expression of FZD2 mRNA	29337256
C019536	potassium bromate	[potassium bromate co-treated with bisphenol A] affects the expression of FZD2 mRNA	27082013
C019536	potassium bromate	[XRCC6 gene mutant form results in increased susceptibility to potassium bromate] affects the reaction [[potassium bromate co-treated with bisphenol A] affects the expression of FZD2 mRNA]	27082013
C027373	potassium chromate(VI)	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of FZD2 mRNA	22079256
C027373	potassium chromate(VI)	potassium chromate(VI) results in decreased expression of FZD2 mRNA	22079256
D011441	Propylthiouracil	Propylthiouracil results in increased expression of FZD2 mRNA	24780913
C010313	pseudocumene	pseudocumene results in decreased expression of FZD2 protein	17337753
C513428	pyrachlostrobin	pyrachlostrobin results in increased expression of FZD2 mRNA	27029645
D011794	Quercetin	[Quercetin co-treated with Ascorbic Acid] results in increased expression of FZD2 mRNA	17639512
D000077185	Resveratrol	[Coumestrol co-treated with Resveratrol] results in decreased expression of FZD2 mRNA	19167446
D000077154	Rosiglitazone	[Dexamethasone co-treated with Rosiglitazone co-treated with 1-Methyl-3-isobutylxanthine co-treated with INS1 protein] results in decreased expression of FZD2 mRNA	16054899
D000077154	Rosiglitazone	EGF protein inhibits the reaction [[Dexamethasone co-treated with Rosiglitazone co-treated with 1-Methyl-3-isobutylxanthine co-treated with INS1 protein] results in decreased expression of FZD2 mRNA]	16054899
D000077154	Rosiglitazone	Tetrachlorodibenzodioxin inhibits the reaction [[Dexamethasone co-treated with Rosiglitazone co-treated with 1-Methyl-3-isobutylxanthine co-treated with INS1 protein] results in decreased expression of FZD2 mRNA]	16054899
D012402	Rotenone	Rotenone results in decreased expression of FZD2 mRNA	28374803
C010327	salinomycin	salinomycin results in decreased expression of FZD2 mRNA	19682730
D019821	Simvastatin	Simvastatin results in increased expression of FZD2 mRNA	19968183
C009277	sodium arsenate	sodium arsenate results in decreased expression of FZD2 mRNA	21795629
C017947	sodium arsenite	sodium arsenite results in decreased expression of FZD2 mRNA	29361514
C017947	sodium arsenite	TP53 protein affects the reaction [sodium arsenite results in increased expression of FZD2 mRNA]	16966095
D012999	Soman	Soman results in decreased expression of FZD2 mRNA	19281266
D013605	T-2 Toxin	T-2 Toxin results in decreased expression of FZD2 mRNA	31299295
D013629	Tamoxifen	Tamoxifen results in increased expression of FZD2 mRNA	25123088
C020806	tetrabromobisphenol A	tetrabromobisphenol A results in decreased expression of FZD2 mRNA	25172293
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of FZD2 mRNA	21570461
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin inhibits the reaction [[Dexamethasone co-treated with Rosiglitazone co-treated with 1-Methyl-3-isobutylxanthine co-treated with INS1 protein] results in decreased expression of FZD2 mRNA]	16054899
D013849	Thimerosal	Thimerosal results in decreased expression of FZD2 mRNA	27188386
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in decreased expression of FZD2 mRNA	28065790
D014212	Tretinoin	Tretinoin results in decreased expression of FZD2 mRNA	20530235
D014212	Tretinoin	Tretinoin results in decreased expression of FZD2 mRNA	21934132
C012589	trichostatin A	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of FZD2 mRNA	27188386
C012589	trichostatin A	trichostatin A results in decreased expression of FZD2 mRNA	24935251; 26272509;
D014635	Valproic Acid	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of FZD2 mRNA	27188386
D014635	Valproic Acid	Valproic Acid affects the expression of FZD2 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in decreased expression of FZD2 mRNA	23179753; 24383497; 24935251; 26272509; 28001369;
D014635	Valproic Acid	Valproic Acid affects the expression of FZD2 mRNA	17292431
D000068756	Valsartan	Valsartan inhibits the reaction [AGT protein results in decreased expression of FZD2 mRNA]	19225232
C100058	vanillin	vanillin results in decreased expression of FZD2 mRNA	17178418
D000077337	Vorinostat	[NOG protein co-treated with Vorinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of FZD2 mRNA	27188386
D000077337	Vorinostat	Vorinostat results in decreased expression of FZD2 mRNA	26272509

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-1003	Cell membrane
KW-0217	Developmental protein
KW-0225	Disease mutation
KW-1015	Disulfide bond
KW-0297	G-protein coupled receptor
KW-0325	Glycoprotein
KW-0472	Membrane
KW-0675	Receptor
KW-1185	Reference proteome
KW-0732	Signal
KW-0807	Transducer
KW-0812	Transmembrane
KW-1133	Transmembrane helix
KW-0832	Ubl conjugation
KW-0879	Wnt signaling pathway

Interpro

InterPro ID	InterPro Term
IPR015526	Frizzled/SFRP
IPR000539	Frizzled/Smoothened_TM
IPR020067	Frizzled_dom
IPR036790	Frizzled_dom_sf
IPR041778	FZ2_CRD
IPR026550	FZD2
IPR017981	GPCR_2-like

PROSITE

PROSITE ID	PROSITE Term
PS50038	FZ
PS50261	G_PROTEIN_RECEP_F2_4

Pfam

Pfam ID	Pfam Term
PF01534	Frizzled
PF01392	Fz

Gene: FZD2

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction