CleftGeneDB-Search

Gene: GRHL2

Basic information

Tag	Content
Uniprot ID	Q6ISB3; A1L303; Q6NT03; Q9H8B8;
Entrez ID	79977
Genbank protein ID	AAH69618.1; AAI29823.1; AAI29824.1; AAH69633.1; EAW91834.1; AAH69638.1; BAB14699.1;
Genbank nucleotide ID	NM_001330593.1; NM_024915.3; XM_011517306.2;
Ensembl protein ID	ENSP00000495564; ENSP00000379260;
Ensembl nucleotide ID	ENSG00000083307
Gene name	Grainyhead-like protein 2 homolog
Gene symbol	GRHL2
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Transcription factor playing an important role in primary neurulation and in epithelial development (PubMed:29309642, PubMed:25152456). Binds directly to the consensus DNA sequence 5'-AACCGGTT-3' acting as an activator and repressor on distinct target genes (By similarity). During embryogenesis, plays unique and cooperative roles with GRHL3 in establishing distinct zones of primary neurulation. Essential for closure 3 (rostral end of the forebrain), functions cooperatively with GRHL3 in closure 2 (forebrain/midbrain boundary) and posterior neuropore closure (By similarity). Regulates epithelial morphogenesis acting as a target gene-associated transcriptional activator of apical junctional complex components. Up-regulates of CLDN3 and CLDN4, as well as of RAB25, which increases the CLDN4 protein and its localization at tight junctions (By similarity). Comprises an essential component of the transcriptional machinery that establishes appropriate expression levels of CLDN4 and CDH1 in different types of epithelia. Exhibits functional redundancy with GRHL3 in epidermal morphogenetic events and epidermal wound repair (By similarity). In lung, forms a regulatory loop with NKX2-1 that coordinates lung epithelial cell morphogenesis and differentiation (By similarity). In keratinocytes, plays a role in telomerase activation during cellular proliferation, regulates TERT expression by binding to TERT promoter region and inhibiting DNA methylation at the 5'-CpG island, possibly by interfering with DNMT1 enzyme activity (PubMed:19015635, PubMed:20938050). In addition, impairs keratinocyte differentiation and epidermal function by inhibiting the expression of genes clustered at the epidermal differentiation complex (EDC) as well as GRHL1 and GRHL3 through epigenetic mechanisms (PubMed:23254293).
Sequence	MSQESDNNKR LVALVPMPSD PPFNTRRAYT SEDEAWKSYL ENPLTAATKA MMSINGDEDS 60 AAALGLLYDY YKVPRDKRLL SVSKASDSQE DQEKRNCLGT SEAQSNLSGG ENRVQVLKTV 120 PVNLSLNQDH LENSKREQYS ISFPESSAII PVSGITVVKA EDFTPVFMAP PVHYPRGDGE 180 EQRVVIFEQT QYDVPSLATH SAYLKDDQRS TPDSTYSESF KDAATEKFRS ASVGAEEYMY 240 DQTSSGTFQY TLEATKSLRQ KQGEGPMTYL NKGQFYAITL SETGDNKCFR HPISKVRSVV 300 MVVFSEDKNR DEQLKYWKYW HSRQHTAKQR VLDIADYKES FNTIGNIEEI AYNAVSFTWD 360 VNEEAKIFIT VNCLSTDFSS QKGVKGLPLM IQIDTYSYNN RSNKPIHRAY CQIKVFCDKG 420 AERKIRDEER KQNRKKGKGQ ASQTQCNSSS DGKLAAIPLQ KKSDITYFKT MPDLHSQPVL 480 FIPDVHFANL QRTGQVYYNT DDEREGGSVL VKRMFRPMEE EFGPVPSKQM KEEGTKRVLL 540 YVRKETDDVF DALMLKSPTV KGLMEAISEK YGLPVEKIAK LYKKSKKGIL VNMDDNIIEH 600 YSNEDTFILN MESMVEGFKV TLMEI 625

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
5MR7

Protein disorder information

Protein disorder visualization from D2P2 is currently unavailable.

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	GRHL2		A0A452F1Z6		Capra hircus	Prediction	More>>
1:1 ortholog	GRHL2	100056140	F7BG04		Equus caballus	Prediction	More>>
1:1 ortholog	GRHL2	79977	Q6ISB3		Homo sapiens	Prediction	More>>
1:1 ortholog	Grhl2	252973	Q8K5C0	CPO	Mus musculus	Publication	More>>
1:1 ortholog	GRHL2	464320	H2QWI7		Pan troglodytes	Prediction	More>>
1:1 ortholog	GRHL2		F1S0Q6		Sus scrofa	Prediction	More>>
1:1 ortholog	Grhl2	299979	B5DEI9		Rattus norvegicus	Prediction	More>>
1:1 ortholog	grhl2b	100034503	F7VJQ5		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1272736219	p.Asn7His	missense variant	-	NC_000008.11:g.101492788A>C	gnomAD
rs1210864412	p.Asn8Asp	missense variant	-	NC_000008.11:g.101543242A>G	gnomAD
rs3735709	p.Lys9Arg	missense variant	-	NC_000008.11:g.101543246A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000039462	p.Lys9Arg	missense variant	-	NC_000008.11:g.101543246A>G	ClinVar
rs3735709	p.Lys9Ile	missense variant	-	NC_000008.11:g.101543246A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1486388579	p.Arg10Thr	missense variant	-	NC_000008.11:g.101543249G>C	TOPMed,gnomAD
rs1190914843	p.Leu11Val	missense variant	-	NC_000008.11:g.101543251C>G	gnomAD
rs1212754842	p.Leu11Pro	missense variant	-	NC_000008.11:g.101543252T>C	TOPMed
rs749906501	p.Val12Leu	missense variant	-	NC_000008.11:g.101543254G>T	-
rs1475540636	p.Val12Ala	missense variant	-	NC_000008.11:g.101543255T>C	TOPMed,gnomAD
RCV000416587	p.Val12Leu	missense variant	-	NC_000008.11:g.101543254G>T	ClinVar
rs759826730	p.Leu14Val	missense variant	-	NC_000008.11:g.101543260T>G	ExAC,gnomAD
rs1465250466	p.Leu14Ser	missense variant	-	NC_000008.11:g.101543261T>C	gnomAD
rs760997445	p.Met17Thr	missense variant	-	NC_000008.11:g.101543270T>C	ExAC,TOPMed,gnomAD
rs752980201	p.Met17Val	missense variant	-	NC_000008.11:g.101543269A>G	ExAC,gnomAD
rs760997445	p.Met17Arg	missense variant	-	NC_000008.11:g.101543270T>G	ExAC,TOPMed,gnomAD
rs760997445	p.Met17Lys	missense variant	-	NC_000008.11:g.101543270T>A	ExAC,TOPMed,gnomAD
rs1416651218	p.Pro18Ala	missense variant	-	NC_000008.11:g.101543272C>G	gnomAD
rs756952344	p.Ser19Gly	missense variant	-	NC_000008.11:g.101543275A>G	TOPMed,gnomAD
rs1228510789	p.Asp20Asn	missense variant	-	NC_000008.11:g.101543278G>A	gnomAD
rs898759692	p.Pro21Thr	missense variant	-	NC_000008.11:g.101543281C>A	TOPMed,gnomAD
rs754025898	p.Pro22Leu	missense variant	-	NC_000008.11:g.101543285C>T	ExAC
rs778497540	p.Phe23Leu	missense variant	-	NC_000008.11:g.101543289C>G	ExAC,gnomAD
rs1234161077	p.Asn24Ser	missense variant	-	NC_000008.11:g.101543291A>G	gnomAD
rs995483376	p.Thr25Asn	missense variant	-	NC_000008.11:g.101543294C>A	TOPMed
rs995483376	p.Thr25Ile	missense variant	-	NC_000008.11:g.101543294C>T	TOPMed
rs750332552	p.Arg26Gln	missense variant	-	NC_000008.11:g.101543297G>A	ExAC,TOPMed,gnomAD
rs758153213	p.Arg27Lys	missense variant	-	NC_000008.11:g.101543300G>A	ExAC,gnomAD
rs779951984	p.Arg27Ser	missense variant	-	NC_000008.11:g.101543301A>T	ExAC,gnomAD
RCV000613350	p.Ala28Gly	missense variant	-	NC_000008.11:g.101543303C>G	ClinVar
rs561693958	p.Ala28Gly	missense variant	-	NC_000008.11:g.101543303C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs561693958	p.Ala28Val	missense variant	-	NC_000008.11:g.101543303C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1453534554	p.Ala35Val	missense variant	-	NC_000008.11:g.101543324C>T	gnomAD
rs1440566501	p.Gly65Ser	missense variant	-	NC_000008.11:g.101543413G>A	TOPMed,gnomAD
rs772426012	p.Tyr68Cys	missense variant	-	NC_000008.11:g.101543423A>G	ExAC,gnomAD
rs199713024	p.Val73Ile	missense variant	-	NC_000008.11:g.101552715G>A	ESP,ExAC,TOPMed
rs373113216	p.Asp76Glu	missense variant	-	NC_000008.11:g.101552726C>G	ESP,ExAC,TOPMed,gnomAD
rs753401708	p.Arg78Lys	missense variant	-	NC_000008.11:g.101552731G>A	ExAC,TOPMed,gnomAD
rs780639699	p.Val82Ile	missense variant	-	NC_000008.11:g.101552742G>A	ExAC,TOPMed,gnomAD
rs780639699	p.Val82Leu	missense variant	-	NC_000008.11:g.101552742G>C	ExAC,TOPMed,gnomAD
rs1381368075	p.Ser83Ile	missense variant	-	NC_000008.11:g.101552746G>T	gnomAD
rs747466435	p.Ala85Val	missense variant	-	NC_000008.11:g.101552752C>T	ExAC,gnomAD
rs1279463107	p.Asp87Tyr	missense variant	-	NC_000008.11:g.101552757G>T	gnomAD
rs769261171	p.Asp87Glu	missense variant	-	NC_000008.11:g.101552759C>G	ExAC,TOPMed,gnomAD
rs781720355	p.Ser88Arg	missense variant	-	NC_000008.11:g.101552762C>A	ExAC,TOPMed,gnomAD
rs568846257	p.Glu90Asp	missense variant	-	NC_000008.11:g.101552768A>C	1000Genomes,ExAC,gnomAD
rs1220524225	p.Cys97Gly	missense variant	-	NC_000008.11:g.101558423T>G	TOPMed
rs575214822	p.Gly99Ser	missense variant	-	NC_000008.11:g.101558429G>A	1000Genomes
rs781762121	p.Thr100Ala	missense variant	-	NC_000008.11:g.101558432A>G	ExAC,gnomAD
rs140106332	p.Ser101Arg	missense variant	-	NC_000008.11:g.101558437T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs748541350	p.Ser101Gly	missense variant	-	NC_000008.11:g.101558435A>G	ExAC,gnomAD
rs1277663157	p.Asn106Ser	missense variant	-	NC_000008.11:g.101558451A>G	gnomAD
rs1048525846	p.Leu107Met	missense variant	-	NC_000008.11:g.101558453T>A	gnomAD
RCV000610408	p.Leu107Met	missense variant	-	NC_000008.11:g.101558453T>A	ClinVar
rs749425038	p.Leu107Phe	missense variant	-	NC_000008.11:g.101558455G>C	ExAC,gnomAD
rs771165764	p.Gly109Glu	missense variant	-	NC_000008.11:g.101558460G>A	ExAC,gnomAD
rs774477960	p.Arg113Pro	missense variant	-	NC_000008.11:g.101558472G>C	ExAC,gnomAD
rs774477960	p.Arg113Gln	missense variant	-	NC_000008.11:g.101558472G>A	ExAC,gnomAD
rs1350802574	p.Arg113Ter	stop gained	-	NC_000008.11:g.101558471C>T	gnomAD
rs1272920545	p.Val114Ala	missense variant	-	NC_000008.11:g.101558475T>C	gnomAD
rs1470076809	p.Val120Ile	missense variant	-	NC_000008.11:g.101558492G>A	gnomAD
rs1004792596	p.Val120Ala	missense variant	-	NC_000008.11:g.101558493T>C	TOPMed
rs772007070	p.Pro121Ala	missense variant	-	NC_000008.11:g.101558495C>G	ExAC,gnomAD
rs1409594179	p.Leu124Val	missense variant	-	NC_000008.11:g.101558504C>G	gnomAD
RCV000039463	p.Ser125Ala	missense variant	-	NC_000008.11:g.101558507T>G	ClinVar
rs145518215	p.Ser125Ala	missense variant	-	NC_000008.11:g.101558507T>G	ESP,ExAC,TOPMed,gnomAD
rs760549817	p.Leu126Ile	missense variant	-	NC_000008.11:g.101558510C>A	ExAC,TOPMed,gnomAD
rs760549817	p.Leu126Val	missense variant	-	NC_000008.11:g.101558510C>G	ExAC,TOPMed,gnomAD
rs763747097	p.Asp129Asn	missense variant	-	NC_000008.11:g.101558519G>A	ExAC
rs761410828	p.His130Pro	missense variant	-	NC_000008.11:g.101558523A>C	ExAC
rs1056249969	p.Leu131Pro	missense variant	-	NC_000008.11:g.101558526T>C	TOPMed
rs1462778035	p.Glu132Asp	missense variant	-	NC_000008.11:g.101558530G>T	gnomAD
rs1371975855	p.Arg136Gln	missense variant	-	NC_000008.11:g.101558541G>A	TOPMed
rs764979598	p.Arg136Trp	missense variant	-	NC_000008.11:g.101558540C>T	ExAC,TOPMed,gnomAD
rs1442922553	p.Glu137Gln	missense variant	-	NC_000008.11:g.101558543G>C	gnomAD
rs1442922553	p.Glu137Lys	missense variant	-	NC_000008.11:g.101558543G>A	gnomAD
rs757924064	p.Gln138Glu	missense variant	-	NC_000008.11:g.101558546C>G	ExAC,gnomAD
rs1304299309	p.Tyr139His	missense variant	-	NC_000008.11:g.101558549T>C	gnomAD
rs753218880	p.Ser140Asn	missense variant	-	NC_000008.11:g.101558553G>A	ExAC,TOPMed,gnomAD
rs727504883	p.Ile150Ser	missense variant	-	NC_000008.11:g.101558583T>G	-
RCV000156257	p.Ile150Ser	missense variant	-	NC_000008.11:g.101558583T>G	ClinVar
rs1394251742	p.Pro151Leu	missense variant	-	NC_000008.11:g.101558586C>T	TOPMed
rs779045315	p.Val152Ala	missense variant	-	NC_000008.11:g.101558589T>C	ExAC,gnomAD
rs147703146	p.Val152Met	missense variant	-	NC_000008.11:g.101558588G>A	ESP,ExAC,TOPMed,gnomAD
rs1253301940	p.Ser153Thr	missense variant	-	NC_000008.11:g.101558591T>A	gnomAD
rs745948995	p.Ser153Leu	missense variant	-	NC_000008.11:g.101558592C>T	ExAC,gnomAD
rs772099208	p.Gly154Val	missense variant	-	NC_000008.11:g.101558595G>T	ExAC,gnomAD
rs772099208	p.Gly154Ala	missense variant	-	NC_000008.11:g.101558595G>C	ExAC,gnomAD
rs746967102	p.Thr156Ala	missense variant	-	NC_000008.11:g.101558600A>G	ExAC,gnomAD
rs1165937150	p.Thr156Lys	missense variant	-	NC_000008.11:g.101558601C>A	gnomAD
rs776359158	p.Ala160Ser	missense variant	-	NC_000008.11:g.101558612G>T	ExAC
rs1484576366	p.Ala160Gly	missense variant	-	NC_000008.11:g.101558613C>G	TOPMed,gnomAD
rs1418600495	p.Glu161Lys	missense variant	-	NC_000008.11:g.101558615G>A	gnomAD
rs561352646	p.Asp162Asn	missense variant	-	NC_000008.11:g.101558618G>A	1000Genomes,ExAC,gnomAD
rs1172496499	p.Phe167Tyr	missense variant	-	NC_000008.11:g.101558634T>A	gnomAD
rs757542366	p.Tyr174Cys	missense variant	-	NC_000008.11:g.101558655A>G	ExAC,TOPMed,gnomAD
rs1312356038	p.Pro175Thr	missense variant	-	NC_000008.11:g.101558657C>A	gnomAD
rs1356330340	p.Pro175His	missense variant	-	NC_000008.11:g.101558658C>A	TOPMed,gnomAD
rs1356330340	p.Pro175Leu	missense variant	-	NC_000008.11:g.101558658C>T	TOPMed,gnomAD
rs772933548	p.Arg176Gln	missense variant	-	NC_000008.11:g.101558661G>A	ExAC,TOPMed,gnomAD
rs1450530282	p.Arg176Trp	missense variant	-	NC_000008.11:g.101558660C>T	gnomAD
rs762588173	p.Gly177Arg	missense variant	-	NC_000008.11:g.101558663G>A	ExAC,TOPMed,gnomAD
rs200674096	p.Glu181Asp	missense variant	-	NC_000008.11:g.101558677G>T	ESP,ExAC,TOPMed,gnomAD
rs142411476	p.Arg183Gln	missense variant	-	NC_000008.11:g.101558682G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000155125	p.Arg183Gln	missense variant	-	NC_000008.11:g.101558682G>A	ClinVar
rs1209450344	p.Ile186Val	missense variant	-	NC_000008.11:g.101558690A>G	gnomAD
rs764647109	p.Ile186Met	missense variant	-	NC_000008.11:g.101558692C>G	ExAC,TOPMed,gnomAD
rs1338678588	p.Phe187Val	missense variant	-	NC_000008.11:g.101558693T>G	TOPMed
rs754164344	p.Gln189Arg	missense variant	-	NC_000008.11:g.101558700A>G	ExAC,TOPMed,gnomAD
rs757547292	p.Thr190Ala	missense variant	-	NC_000008.11:g.101558702A>G	ExAC,gnomAD
rs377685568	p.Gln191Arg	missense variant	-	NC_000008.11:g.101558706A>G	ESP,ExAC,gnomAD
rs746040300	p.Tyr192Cys	missense variant	-	NC_000008.11:g.101558709A>G	ExAC,TOPMed,gnomAD
rs962126399	p.Val194Met	missense variant	-	NC_000008.11:g.101558714G>A	TOPMed,gnomAD
rs1173070092	p.Pro195Leu	missense variant	-	NC_000008.11:g.101558718C>T	gnomAD
rs1158196831	p.Ala198Thr	missense variant	-	NC_000008.11:g.101558726G>A	TOPMed
rs371212649	p.Thr199Asn	missense variant	-	NC_000008.11:g.101558730C>A	ESP,ExAC,TOPMed,gnomAD
rs371212649	p.Thr199Ile	missense variant	-	NC_000008.11:g.101558730C>T	ESP,ExAC,TOPMed,gnomAD
rs769672381	p.Ala202Ser	missense variant	-	NC_000008.11:g.101558738G>T	ExAC,TOPMed,gnomAD
rs1184243308	p.Tyr203Cys	missense variant	-	NC_000008.11:g.101558742A>G	TOPMed
rs773025507	p.Asp206Glu	missense variant	-	NC_000008.11:g.101558752C>A	ExAC,TOPMed,gnomAD
rs1241773797	p.Asp207Tyr	missense variant	-	NC_000008.11:g.101558753G>T	TOPMed
rs762747676	p.Arg209Cys	missense variant	-	NC_000008.11:g.101558759C>T	ExAC,TOPMed,gnomAD
rs773803090	p.Thr211Pro	missense variant	-	NC_000008.11:g.101558765A>C	ExAC,TOPMed,gnomAD
rs1202888034	p.Pro212Gln	missense variant	-	NC_000008.11:g.101558769C>A	TOPMed,gnomAD
rs1202888034	p.Pro212Arg	missense variant	-	NC_000008.11:g.101558769C>G	TOPMed,gnomAD
rs548008385	p.Asp213Asn	missense variant	-	NC_000008.11:g.101558771G>A	ExAC,TOPMed,gnomAD
rs532798712	p.Asp213Glu	missense variant	-	NC_000008.11:g.101558773C>G	1000Genomes,ExAC,gnomAD
rs548008385	p.Asp213His	missense variant	-	NC_000008.11:g.101558771G>C	ExAC,TOPMed,gnomAD
rs199931364	p.Ser214Asn	missense variant	-	NC_000008.11:g.101558775G>A	ExAC,TOPMed,gnomAD
RCV000218162	p.Ser214Asn	missense variant	-	NC_000008.11:g.101558775G>A	ClinVar
rs866073170	p.Thr215Pro	missense variant	-	NC_000008.11:g.101558777A>C	TOPMed
rs866073170	p.Thr215Ala	missense variant	-	NC_000008.11:g.101558777A>G	TOPMed
rs1354733915	p.Tyr216His	missense variant	-	NC_000008.11:g.101558780T>C	gnomAD
rs750753608	p.Asp222Glu	missense variant	-	NC_000008.11:g.101558800C>G	ExAC,gnomAD
rs766917145	p.Ala223Ser	missense variant	-	NC_000008.11:g.101558801G>T	gnomAD
rs1479018939	p.Ala224Ser	missense variant	-	NC_000008.11:g.101558804G>T	gnomAD
rs1479018939	p.Ala224Pro	missense variant	-	NC_000008.11:g.101558804G>C	gnomAD
rs1156913048	p.Ala224Asp	missense variant	-	NC_000008.11:g.101558805C>A	TOPMed,gnomAD
rs1345540956	p.Thr225Ile	missense variant	-	NC_000008.11:g.101558808C>T	TOPMed
rs758685132	p.Thr225Ala	missense variant	-	NC_000008.11:g.101558807A>G	ExAC,TOPMed,gnomAD
rs545333440	p.Arg229Gln	missense variant	-	NC_000008.11:g.101570346G>A	ExAC,TOPMed,gnomAD
rs766515922	p.Arg229Trp	missense variant	-	NC_000008.11:g.101570345C>T	ExAC,TOPMed,gnomAD
RCV000616467	p.Arg229Trp	missense variant	-	NC_000008.11:g.101570345C>T	ClinVar
rs140423160	p.Ser230Asn	missense variant	-	NC_000008.11:g.101570349G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs140423160	p.Ser230Thr	missense variant	-	NC_000008.11:g.101570349G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000039465	p.Ser230Asn	missense variant	-	NC_000008.11:g.101570349G>A	ClinVar
rs781385697	p.Ala231Ser	missense variant	-	NC_000008.11:g.101570351G>T	ExAC,gnomAD
rs576429179	p.Val233Phe	missense variant	-	NC_000008.11:g.101570357G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1337356030	p.Val233Ala	missense variant	-	NC_000008.11:g.101570358T>C	gnomAD
rs1304118890	p.Ala235Ser	missense variant	-	NC_000008.11:g.101570363G>T	TOPMed
rs749096635	p.Glu237Lys	missense variant	-	NC_000008.11:g.101570369G>A	ExAC,gnomAD
rs370430018	p.Met239Leu	missense variant	-	NC_000008.11:g.101570375A>C	ESP,ExAC,gnomAD
rs370430018	p.Met239Val	missense variant	-	NC_000008.11:g.101570375A>G	ESP,ExAC,gnomAD
rs745582416	p.Asp241Val	missense variant	-	NC_000008.11:g.101570382A>T	ExAC,gnomAD
rs771592503	p.Thr243Ser	missense variant	-	NC_000008.11:g.101570387A>T	ExAC,TOPMed,gnomAD
rs771592503	p.Thr243Ala	missense variant	-	NC_000008.11:g.101570387A>G	ExAC,TOPMed,gnomAD
rs899684005	p.Thr243Ile	missense variant	-	NC_000008.11:g.101570388C>T	TOPMed,gnomAD
rs1167802678	p.Ser245Gly	missense variant	-	NC_000008.11:g.101570393A>G	gnomAD
rs1432246375	p.Phe248Ser	missense variant	-	NC_000008.11:g.101573676T>C	gnomAD
rs1171190689	p.Gln249Pro	missense variant	-	NC_000008.11:g.101573679A>C	gnomAD
rs758125427	p.Tyr250Cys	missense variant	-	NC_000008.11:g.101573682A>G	ExAC,gnomAD
rs779623350	p.Thr251Ile	missense variant	-	NC_000008.11:g.101573685C>T	ExAC,TOPMed
rs779623350	p.Thr251Asn	missense variant	-	NC_000008.11:g.101573685C>A	ExAC,TOPMed
rs746527351	p.Leu252Val	missense variant	-	NC_000008.11:g.101573687C>G	ExAC,TOPMed
rs746527351	p.Leu252Met	missense variant	-	NC_000008.11:g.101573687C>A	ExAC,TOPMed
rs768116402	p.Ala254Val	missense variant	-	NC_000008.11:g.101573694C>T	ExAC,gnomAD
rs773730773	p.Thr255Ala	missense variant	-	NC_000008.11:g.101573696A>G	ExAC,TOPMed,gnomAD
rs1416497422	p.Leu258Pro	missense variant	-	NC_000008.11:g.101573706T>C	TOPMed
rs923030287	p.Arg259Cys	missense variant	-	NC_000008.11:g.101573708C>T	TOPMed,gnomAD
rs200976297	p.Arg259His	missense variant	-	NC_000008.11:g.101573709G>A	ExAC,TOPMed,gnomAD
rs1215612983	p.Gln262Glu	missense variant	-	NC_000008.11:g.101573717C>G	TOPMed,gnomAD
rs759808546	p.Gly265Arg	missense variant	-	NC_000008.11:g.101573726G>C	ExAC,gnomAD
RCV000487664	p.Met267Ter	frameshift	-	NC_000008.11:g.101573734del	ClinVar
rs767796163	p.Thr268Ile	missense variant	-	NC_000008.11:g.101573736C>T	ExAC,gnomAD
rs1451859312	p.Gln274Arg	missense variant	-	NC_000008.11:g.101573754A>G	gnomAD
rs372462384	p.Gln274Lys	missense variant	-	NC_000008.11:g.101573753C>A	ESP
rs1032621653	p.Phe275Leu	missense variant	-	NC_000008.11:g.101573756T>C	TOPMed
rs1232215185	p.Ala277Asp	missense variant	-	NC_000008.11:g.101573763C>A	TOPMed
rs764313654	p.Ile278Val	missense variant	-	NC_000008.11:g.101573765A>G	ExAC,gnomAD
rs765070751	p.Glu282Gly	missense variant	-	NC_000008.11:g.101573778A>G	ExAC,TOPMed,gnomAD
rs779714193	p.Gly284Arg	missense variant	-	NC_000008.11:g.101573783G>A	ExAC,TOPMed,gnomAD
rs746616786	p.Asn286Asp	missense variant	-	NC_000008.11:g.101573789A>G	ExAC,TOPMed,gnomAD
rs375445375	p.Arg290Pro	missense variant	-	NC_000008.11:g.101573802G>C	ESP,ExAC,TOPMed,gnomAD
rs375445375	p.Arg290Leu	missense variant	-	NC_000008.11:g.101573802G>T	ESP,ExAC,TOPMed,gnomAD
rs375445375	p.Arg290Gln	missense variant	-	NC_000008.11:g.101573802G>A	ESP,ExAC,TOPMed,gnomAD
rs1296924471	p.His291Arg	missense variant	-	NC_000008.11:g.101573805A>G	TOPMed
rs771529678	p.His291Gln	missense variant	-	NC_000008.11:g.101573806C>A	ExAC,TOPMed,gnomAD
rs1315339486	p.Ser294Arg	missense variant	-	NC_000008.11:g.101573815C>G	TOPMed,gnomAD
rs775971734	p.Lys295Gln	missense variant	-	NC_000008.11:g.101573816A>C	ExAC,gnomAD
rs1414323665	p.Val299Met	missense variant	-	NC_000008.11:g.101577411G>A	gnomAD
rs772671499	p.Met301Ile	missense variant	-	NC_000008.11:g.101577419G>A	ExAC,gnomAD
rs376663921	p.Ser305Thr	missense variant	-	NC_000008.11:g.101577430G>C	ESP,ExAC,gnomAD
rs747364242	p.Asn309Ser	missense variant	-	NC_000008.11:g.101577442A>G	ExAC,gnomAD
rs1308720963	p.Arg310Lys	missense variant	-	NC_000008.11:g.101577445G>A	gnomAD
rs769011518	p.Asp311Tyr	missense variant	-	NC_000008.11:g.101577447G>T	ExAC,gnomAD
rs1413219814	p.Leu314Val	missense variant	-	NC_000008.11:g.101577456C>G	TOPMed,gnomAD
rs889283934	p.Tyr319His	missense variant	-	NC_000008.11:g.101577471T>C	TOPMed,gnomAD
rs1439039937	p.Tyr319Cys	missense variant	-	NC_000008.11:g.101577472A>G	TOPMed
rs140348170	p.Arg323Gln	missense variant	-	NC_000008.11:g.101577484G>A	ESP,ExAC,gnomAD
rs773319502	p.Ala327Val	missense variant	-	NC_000008.11:g.101577496C>T	ExAC,TOPMed,gnomAD
rs769715635	p.Ala327Thr	missense variant	-	NC_000008.11:g.101577495G>A	ExAC,gnomAD
rs145433541	p.Asp336Asn	missense variant	-	NC_000008.11:g.101599059G>A	ESP,ExAC,TOPMed,gnomAD
rs536807009	p.Ser340Arg	missense variant	-	NC_000008.11:g.101599073C>A	gnomAD
rs376701859	p.Thr343Met	missense variant	-	NC_000008.11:g.101599081C>T	ESP,ExAC,TOPMed,gnomAD
rs376701859	p.Thr343Arg	missense variant	-	NC_000008.11:g.101599081C>G	ESP,ExAC,TOPMed,gnomAD
rs1380523509	p.Ile344Thr	missense variant	-	NC_000008.11:g.101599084T>C	TOPMed
rs755522032	p.Gly345Glu	missense variant	-	NC_000008.11:g.101599087G>A	ExAC,gnomAD
rs781449979	p.Ile347Val	missense variant	-	NC_000008.11:g.101599092A>G	ExAC
rs1231804618	p.Glu349Asp	missense variant	-	NC_000008.11:g.101599100G>T	gnomAD
rs1346671644	p.Tyr352Cys	missense variant	-	NC_000008.11:g.101599108A>G	gnomAD
rs137950884	p.Asn353Ser	missense variant	-	NC_000008.11:g.101599111A>G	ESP,ExAC,gnomAD
rs1398906044	p.Val355Leu	missense variant	-	NC_000008.11:g.101599116G>C	gnomAD
rs772172966	p.Asp360Glu	missense variant	-	NC_000008.11:g.101599133C>A	ExAC,TOPMed,gnomAD
rs770962467	p.Val361Met	missense variant	-	NC_000008.11:g.101599134G>A	ExAC,TOPMed,gnomAD
RCV000604007	p.Val361Met	missense variant	-	NC_000008.11:g.101599134G>A	ClinVar
rs774388485	p.Asn362Ser	missense variant	-	NC_000008.11:g.101599138A>G	ExAC,gnomAD
rs775404836	p.Ala365Val	missense variant	-	NC_000008.11:g.101599147C>T	ExAC,gnomAD
rs775404836	p.Ala365Glu	missense variant	-	NC_000008.11:g.101599147C>A	ExAC,gnomAD
rs775204214	p.Lys366Met	missense variant	-	NC_000008.11:g.101599150A>T	ExAC,gnomAD
rs745932717	p.Ile369Val	missense variant	-	NC_000008.11:g.101619545A>G	ExAC,TOPMed,gnomAD
rs779974367	p.Val371Met	missense variant	-	NC_000008.11:g.101619551G>A	ExAC,TOPMed,gnomAD
rs1350523050	p.Met390Val	missense variant	-	NC_000008.11:g.101619608A>G	TOPMed,gnomAD
rs769568051	p.Ile391Val	missense variant	-	NC_000008.11:g.101619611A>G	ExAC,gnomAD
rs1337376768	p.Gln392Leu	missense variant	-	NC_000008.11:g.101619615A>T	gnomAD
rs772917099	p.Gln392His	missense variant	-	NC_000008.11:g.101619616G>T	ExAC,gnomAD
rs767917399	p.Ser397Gly	missense variant	-	NC_000008.11:g.101619629A>G	ExAC,gnomAD
rs587777737	p.Tyr398His	missense variant	-	NC_000008.11:g.101619632T>C	-
rs587777737	p.Tyr398His	missense variant	Ectodermal dysplasia/short stature syndrome (ECTDS)	NC_000008.11:g.101619632T>C	UniProt,dbSNP
VAR_071989	p.Tyr398His	missense variant	Ectodermal dysplasia/short stature syndrome (ECTDS)	NC_000008.11:g.101619632T>C	UniProt
RCV000144237	p.Tyr398His	missense variant	Ectodermal dysplasia/short stature syndrome (ECTDS)	NC_000008.11:g.101619632T>C	ClinVar
rs753211696	p.Asn399Ile	missense variant	-	NC_000008.11:g.101619636A>T	ExAC,gnomAD
rs1405412333	p.Asn400Ser	missense variant	-	NC_000008.11:g.101619639A>G	TOPMed
rs201327204	p.Arg401His	missense variant	-	NC_000008.11:g.101619642G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs757530987	p.Pro405Ser	missense variant	-	NC_000008.11:g.101619653C>T	ExAC,gnomAD
rs1370676563	p.His407Arg	missense variant	-	NC_000008.11:g.101619660A>G	gnomAD
rs779047042	p.Arg408Thr	missense variant	-	NC_000008.11:g.101619663G>C	ExAC,gnomAD
rs1166914123	p.Tyr410Asn	missense variant	-	NC_000008.11:g.101619668T>A	TOPMed
rs1401075202	p.Gln412Glu	missense variant	-	NC_000008.11:g.101619674C>G	gnomAD
rs1396330781	p.Gln412Pro	missense variant	-	NC_000008.11:g.101619675A>C	gnomAD
rs3779617	p.Val415Ile	missense variant	-	NC_000008.11:g.101619683G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs3779617	p.Val415Phe	missense variant	-	NC_000008.11:g.101619683G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000039459	p.Val415Ile	missense variant	-	NC_000008.11:g.101619683G>A	ClinVar
RCV000760848	p.Glu422Ter	nonsense	-	NC_000008.11:g.101631643G>T	ClinVar
rs1027822378	p.Glu422Ter	stop gained	-	NC_000008.11:g.101631643G>T	-
rs750607556	p.Glu429Lys	missense variant	-	NC_000008.11:g.101631664G>A	ExAC,gnomAD
rs375283208	p.Arg430Gln	missense variant	-	NC_000008.11:g.101631668G>A	ESP,ExAC,gnomAD
rs1456445530	p.Arg430Trp	missense variant	-	NC_000008.11:g.101631667C>T	TOPMed,gnomAD
rs1288367085	p.Asn433Ser	missense variant	-	NC_000008.11:g.101631677A>G	TOPMed
rs751587432	p.Arg434Ser	missense variant	-	NC_000008.11:g.101631681G>T	ExAC,gnomAD
rs1375052724	p.Lys435Arg	missense variant	-	NC_000008.11:g.101631683A>G	gnomAD
rs755024772	p.Lys436Asn	missense variant	-	NC_000008.11:g.101631687A>C	ExAC,gnomAD
rs559594937	p.Gly439Asp	missense variant	-	NC_000008.11:g.101631695G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1392201714	p.Gln440His	missense variant	-	NC_000008.11:g.101631699G>T	gnomAD
rs200016612	p.Ala441Pro	missense variant	-	NC_000008.11:g.101631700G>C	ESP,ExAC,TOPMed,gnomAD
rs777317774	p.Gln445His	missense variant	-	NC_000008.11:g.101631714A>T	ExAC,TOPMed,gnomAD
rs145717789	p.Gln445Arg	missense variant	-	NC_000008.11:g.101631713A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs200563684	p.Cys446Gly	missense variant	-	NC_000008.11:g.101631715T>G	1000Genomes,ExAC,gnomAD
rs543526703	p.Cys446Tyr	missense variant	-	NC_000008.11:g.101631716G>A	gnomAD
rs1319231591	p.Asn447Lys	missense variant	-	NC_000008.11:g.101631720C>A	gnomAD
rs773965261	p.Ser448Asn	missense variant	-	NC_000008.11:g.101631722G>A	ExAC,gnomAD
rs771520662	p.Ser450Cys	missense variant	-	NC_000008.11:g.101632229C>G	ExAC,TOPMed,gnomAD
rs771520662	p.Ser450Phe	missense variant	-	NC_000008.11:g.101632229C>T	ExAC,TOPMed,gnomAD
rs141136371	p.Ser450Thr	missense variant	-	NC_000008.11:g.101632228T>A	ESP,ExAC,TOPMed,gnomAD
RCV000223159	p.Ser450Thr	missense variant	-	NC_000008.11:g.101632228T>A	ClinVar
rs1181071963	p.Gly452Glu	missense variant	-	NC_000008.11:g.101632235G>A	gnomAD
rs748693855	p.Ala456Gly	missense variant	-	NC_000008.11:g.101632247C>G	ExAC,gnomAD
rs1350245014	p.Ile457Met	missense variant	-	NC_000008.11:g.101632251A>G	TOPMed
rs770280108	p.Leu459Ser	missense variant	-	NC_000008.11:g.101632256T>C	ExAC,TOPMed,gnomAD
rs150909082	p.Gln460Glu	missense variant	-	NC_000008.11:g.101632258C>G	ESP
rs942303644	p.Gln460His	missense variant	-	NC_000008.11:g.101632260G>C	TOPMed
rs534718497	p.Lys462Arg	missense variant	-	NC_000008.11:g.101632265A>G	1000Genomes,ExAC,gnomAD
rs763171411	p.Ser463Arg	missense variant	-	NC_000008.11:g.101632269T>A	ExAC,TOPMed,gnomAD
rs750611454	p.Thr466Ile	missense variant	-	NC_000008.11:g.101632277C>T	ExAC,gnomAD
rs774399895	p.Tyr467Phe	missense variant	-	NC_000008.11:g.101632280A>T	ExAC,gnomAD
rs774399895	p.Tyr467Cys	missense variant	-	NC_000008.11:g.101632280A>G	ExAC,gnomAD
rs767758627	p.Thr470Asn	missense variant	-	NC_000008.11:g.101632289C>A	ExAC,TOPMed,gnomAD
rs767758627	p.Thr470Ile	missense variant	-	NC_000008.11:g.101632289C>T	ExAC,TOPMed,gnomAD
rs1373053665	p.Met471Ile	missense variant	-	NC_000008.11:g.101632293G>A	TOPMed
rs1296085454	p.Met471Thr	missense variant	-	NC_000008.11:g.101632292T>C	gnomAD
rs1435558991	p.Asp473Asn	missense variant	-	NC_000008.11:g.101632297G>A	gnomAD
rs1400871790	p.Leu474Arg	missense variant	-	NC_000008.11:g.101632301T>G	TOPMed
rs763876613	p.His475Leu	missense variant	-	NC_000008.11:g.101632304A>T	ExAC,gnomAD
rs1440405476	p.Ser476Pro	missense variant	-	NC_000008.11:g.101632306T>C	gnomAD
rs1383867730	p.Gln477Pro	missense variant	-	NC_000008.11:g.101632310A>C	TOPMed
rs1157192008	p.Val479Phe	missense variant	-	NC_000008.11:g.101632315G>T	TOPMed
rs587777738	p.Ile482Thr	missense variant	-	NC_000008.11:g.101632325T>C	TOPMed,gnomAD
rs587777738	p.Ile482Lys	missense variant	Ectodermal dysplasia/short stature syndrome (ECTDS)	NC_000008.11:g.101632325T>A	UniProt,dbSNP
VAR_071990	p.Ile482Lys	missense variant	Ectodermal dysplasia/short stature syndrome (ECTDS)	NC_000008.11:g.101632325T>A	UniProt
rs587777738	p.Ile482Lys	missense variant	-	NC_000008.11:g.101632325T>A	TOPMed,gnomAD
RCV000144238	p.Ile482Lys	missense variant	Ectodermal dysplasia/short stature syndrome (ECTDS)	NC_000008.11:g.101632325T>A	ClinVar
rs1419186366	p.Val485Ile	missense variant	-	NC_000008.11:g.101632333G>A	TOPMed
rs1474531869	p.Leu490Pro	missense variant	-	NC_000008.11:g.101632349T>C	TOPMed
rs756960152	p.Leu490Met	missense variant	-	NC_000008.11:g.101632348C>A	ExAC,TOPMed,gnomAD
rs758015181	p.Gly494Arg	missense variant	-	NC_000008.11:g.101632360G>A	ExAC
rs140174831	p.Val496Met	missense variant	-	NC_000008.11:g.101636897G>A	ESP,ExAC,TOPMed,gnomAD
rs779623787	p.Tyr497Cys	missense variant	-	NC_000008.11:g.101636901A>G	ExAC
rs1185938895	p.Tyr498His	missense variant	-	NC_000008.11:g.101636903T>C	TOPMed
rs754407812	p.Thr500Ala	missense variant	-	NC_000008.11:g.101636909A>G	ExAC,gnomAD
rs200374682	p.Thr500Met	missense variant	-	NC_000008.11:g.101636910C>T	ExAC,TOPMed,gnomAD
rs200374682	p.Thr500Lys	missense variant	-	NC_000008.11:g.101636910C>A	ExAC,TOPMed,gnomAD
RCV000336699	p.Thr500Lys	missense variant	-	NC_000008.11:g.101636910C>A	ClinVar
rs1430259512	p.Asp501Asn	missense variant	-	NC_000008.11:g.101636912G>A	TOPMed,gnomAD
rs771441896	p.Glu503Lys	missense variant	-	NC_000008.11:g.101636918G>A	ExAC,gnomAD
rs746173794	p.Arg504Gln	missense variant	-	NC_000008.11:g.101636922G>A	ExAC,gnomAD
rs757766997	p.Ser508Asn	missense variant	-	NC_000008.11:g.101644136G>A	ExAC,gnomAD
rs758783933	p.Arg513Gln	missense variant	-	NC_000008.11:g.101644151G>A	ExAC,TOPMed,gnomAD
rs753005094	p.Arg513Trp	missense variant	-	NC_000008.11:g.101644150C>T	gnomAD
rs1284330202	p.Met514Ile	missense variant	-	NC_000008.11:g.101644155G>A	TOPMed
rs747234583	p.Arg516Gln	missense variant	-	NC_000008.11:g.101644160G>A	ExAC,TOPMed,gnomAD
rs747234583	p.Arg516Pro	missense variant	-	NC_000008.11:g.101644160G>C	ExAC,TOPMed,gnomAD
rs780540983	p.Arg516Trp	missense variant	-	NC_000008.11:g.101644159C>T	ExAC,TOPMed,gnomAD
rs1309886585	p.Glu519Gly	missense variant	-	NC_000008.11:g.101644169A>G	TOPMed
rs1367233616	p.Glu519Gln	missense variant	-	NC_000008.11:g.101644168G>C	gnomAD
rs189786443	p.Glu520Lys	missense variant	-	NC_000008.11:g.101644171G>A	1000Genomes,ExAC,gnomAD
rs748200768	p.Phe522Leu	missense variant	-	NC_000008.11:g.101644179T>A	ExAC,gnomAD
rs773094510	p.Val525Gly	missense variant	-	NC_000008.11:g.101644187T>G	ExAC,gnomAD
rs1332011279	p.Gln529Lys	missense variant	-	NC_000008.11:g.101644198C>A	gnomAD
rs762760702	p.Met530Lys	missense variant	-	NC_000008.11:g.101644202T>A	ExAC,gnomAD
rs762760702	p.Met530Thr	missense variant	-	NC_000008.11:g.101644202T>C	ExAC,gnomAD
rs766212596	p.Lys531Arg	missense variant	-	NC_000008.11:g.101644205A>G	ExAC,TOPMed,gnomAD
rs1283775348	p.Thr535Arg	missense variant	-	NC_000008.11:g.101644217C>G	TOPMed
rs1283775348	p.Thr535Ile	missense variant	-	NC_000008.11:g.101644217C>T	TOPMed
rs1226294385	p.Arg537Ter	stop gained	-	NC_000008.11:g.101644222C>T	gnomAD
RCV000002279	p.Arg537Ter	frameshift	Deafness, autosomal dominant 28 (DFNA28)	NC_000008.11:g.101644222dup	ClinVar
rs774168395	p.Arg537Gln	missense variant	-	NC_000008.11:g.101644223G>A	ExAC,TOPMed,gnomAD
rs766851451	p.Lys544Arg	missense variant	-	NC_000008.11:g.101649432A>G	ExAC,TOPMed,gnomAD
rs755321189	p.Thr546Ile	missense variant	-	NC_000008.11:g.101649438C>T	ExAC,gnomAD
rs751884216	p.Thr546Ala	missense variant	-	NC_000008.11:g.101649437A>G	ExAC,gnomAD
rs148513345	p.Asp551Asn	missense variant	-	NC_000008.11:g.101649452G>A	ESP,ExAC,TOPMed,gnomAD
rs745685793	p.Met554Leu	missense variant	-	NC_000008.11:g.101649461A>T	ExAC,gnomAD
rs771944946	p.Lys561Glu	missense variant	-	NC_000008.11:g.101649482A>G	ExAC,gnomAD
rs369314800	p.Met564Ile	missense variant	-	NC_000008.11:g.101649493G>T	ESP,ExAC,TOPMed,gnomAD
rs200592171	p.Met564Leu	missense variant	-	NC_000008.11:g.101649491A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000150801	p.Met564Leu	missense variant	-	NC_000008.11:g.101649491A>T	ClinVar
rs369314800	p.Met564Ile	missense variant	-	NC_000008.11:g.101649493G>A	ESP,ExAC,TOPMed,gnomAD
rs1188958009	p.Ala566Thr	missense variant	-	NC_000008.11:g.101649497G>A	gnomAD
rs768421169	p.Ala566Val	missense variant	-	NC_000008.11:g.101649498C>T	ExAC,gnomAD
rs1299161941	p.Ser568Ala	missense variant	-	NC_000008.11:g.101664457T>G	gnomAD
rs1008258324	p.Ser568Phe	missense variant	-	NC_000008.11:g.101664458C>T	TOPMed
rs775833439	p.Tyr571Asn	missense variant	-	NC_000008.11:g.101664466T>A	ExAC,gnomAD
rs1181379838	p.Gly572Glu	missense variant	-	NC_000008.11:g.101664470G>A	TOPMed
rs1315010624	p.Pro574Thr	missense variant	-	NC_000008.11:g.101664475C>A	gnomAD
rs370196002	p.Val575Met	missense variant	-	NC_000008.11:g.101664478G>A	ESP,ExAC,TOPMed,gnomAD
rs370196002	p.Val575Leu	missense variant	-	NC_000008.11:g.101664478G>C	ESP,ExAC,TOPMed,gnomAD
RCV000039460	p.Val575Met	missense variant	-	NC_000008.11:g.101664478G>A	ClinVar
rs757402506	p.Lys577Arg	missense variant	-	NC_000008.11:g.101664485A>G	ExAC,gnomAD
rs765418316	p.Ala579Gly	missense variant	-	NC_000008.11:g.101664491C>G	ExAC,gnomAD
rs765418316	p.Ala579Val	missense variant	-	NC_000008.11:g.101664491C>T	ExAC,gnomAD
rs1234433012	p.Tyr582Ter	stop gained	-	NC_000008.11:g.101664501C>A	TOPMed,gnomAD
rs1182858317	p.Ser585Asn	missense variant	-	NC_000008.11:g.101664509G>A	gnomAD
rs1243691043	p.Ser585Arg	missense variant	-	NC_000008.11:g.101664510C>A	TOPMed,gnomAD
rs1430840103	p.Ile589Val	missense variant	-	NC_000008.11:g.101666590A>G	gnomAD
rs184644903	p.Val591Ala	missense variant	-	NC_000008.11:g.101666597T>C	1000Genomes,ExAC,gnomAD
rs769149147	p.Asp595Asn	missense variant	-	NC_000008.11:g.101666608G>A	ExAC,TOPMed,gnomAD
rs776986245	p.Asn596Ile	missense variant	-	NC_000008.11:g.101666612A>T	ExAC,gnomAD
rs1435717250	p.Asn596Asp	missense variant	-	NC_000008.11:g.101666611A>G	gnomAD
rs762026492	p.Ile598Val	missense variant	-	NC_000008.11:g.101666617A>G	ExAC,gnomAD
rs773267486	p.Glu599Lys	missense variant	-	NC_000008.11:g.101666620G>A	ExAC,gnomAD
rs1199108162	p.Ser602Leu	missense variant	-	NC_000008.11:g.101666630C>T	TOPMed,gnomAD
rs1157282204	p.Thr606Ile	missense variant	-	NC_000008.11:g.101666642C>T	gnomAD
rs1051997586	p.Ile608Val	missense variant	-	NC_000008.11:g.101666647A>G	TOPMed,gnomAD
rs576408861	p.Ser613Arg	missense variant	-	NC_000008.11:g.101666664C>A	1000Genomes,ExAC,gnomAD
rs576408861	p.Ser613Arg	missense variant	-	NC_000008.11:g.101666664C>G	1000Genomes,ExAC,gnomAD
rs543806585	p.Met614Arg	missense variant	-	NC_000008.11:g.101666666T>G	1000Genomes,ExAC,gnomAD
rs756893302	p.Val615Met	missense variant	-	NC_000008.11:g.101666668G>A	ExAC,gnomAD
rs778464698	p.Glu616Gly	missense variant	-	NC_000008.11:g.101666672A>G	ExAC,TOPMed,gnomAD
rs200589830	p.Lys619Thr	missense variant	-	NC_000008.11:g.101666681A>C	1000Genomes,ExAC,gnomAD
rs1351378617	p.Lys619Glu	missense variant	-	NC_000008.11:g.101666680A>G	gnomAD
rs200589830	p.Lys619Arg	missense variant	-	NC_000008.11:g.101666681A>G	1000Genomes,ExAC,gnomAD
rs1392685967	p.Val620Ile	missense variant	-	NC_000008.11:g.101666683G>A	gnomAD
rs748576840	p.Thr621Met	missense variant	-	NC_000008.11:g.101666687C>T	ExAC,TOPMed,gnomAD
rs375747933	p.Met623Val	missense variant	-	NC_000008.11:g.101666692A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs763142693	p.Ile625Phe	missense variant	-	NC_000008.11:g.101666698A>T	ExAC,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0006826	Malignant Neoplasms	group	BEFREE
C0007137	Squamous cell carcinoma	disease	BEFREE;LHGDN
C0009402	Colorectal Carcinoma	disease	BEFREE
C0011351	Dental Enamel Hypoplasia	disease	HPO
C0018784	Sensorineural Hearing Loss (disorder)	disease	HPO
C0020608	Hypodontia	disease	HPO
C0023903	Liver neoplasms	group	BEFREE
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0027651	Neoplasms	group	BEFREE
C0027794	Neural Tube Defects	group	BEFREE
C0029925	Ovarian Carcinoma	disease	BEFREE
C0034069	Pulmonary Fibrosis	disease	BEFREE
C0080178	Spina Bifida	disease	BEFREE
C0085786	Hamman-Rich syndrome	disease	BEFREE
C0153381	Malignant neoplasm of mouth	disease	BEFREE
C0178874	Tumor Progression	phenotype	BEFREE
C0220641	Lip and Oral Cavity Carcinoma	disease	BEFREE
C0221260	Dystrophia unguium	disease	HPO
C0221270	Acanthosis	phenotype	HPO
C0235974	Pancreatic carcinoma	disease	BEFREE
C0242379	Malignant neoplasm of lung	disease	BEFREE
C0265998	ANONYCHIA	disease	HPO
C0279702	Conventional (Clear Cell) Renal Cell Carcinoma	disease	BEFREE
C0346647	Malignant neoplasm of pancreas	disease	BEFREE
C0346957	Disseminated Malignant Neoplasm	phenotype	BEFREE
C0349588	Short stature	phenotype	HPO
C0376358	Malignant neoplasm of prostate	disease	BEFREE
C0596263	Carcinogenesis	phenotype	BEFREE
C0600139	Prostate carcinoma	disease	BEFREE
C0677886	Epithelial ovarian cancer	disease	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C0684249	Carcinoma of lung	disease	BEFREE
C0686619	Secondary malignant neoplasm of lymph node	disease	BEFREE
C0740457	Malignant neoplasm of kidney	disease	BEFREE
C0870082	Hyperkeratosis	group	HPO
C0919267	ovarian neoplasm	disease	BEFREE
C1140680	Malignant neoplasm of ovary	disease	BEFREE
C1306459	Primary malignant neoplasm	group	BEFREE
C1306460	Primary malignant neoplasm of lung	disease	BEFREE
C1378703	Renal carcinoma	disease	BEFREE
C1527249	Colorectal Cancer	disease	BEFREE
C1800706	Idiopathic Pulmonary Fibrosis	disease	BEFREE
C1837640	Deafness, Autosomal Dominant 28	disease	BEFREE;CLINVAR;CTD_human
C1851854	Thin dental enamel	phenotype	HPO
C2239176	Liver carcinoma	disease	BEFREE;LHGDN
C2931488	Zlotogora-Ogur syndrome	disease	BEFREE
C4014987	ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME	disease	CLINVAR;CTD_human;ORPHANET;UNIPROT
C4280456	Dysplasia of tooth enamel	phenotype	HPO
C4280457	Defective enamel matrix	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM
GO:0001161	intronic transcription regulatory region sequence-specific DNA binding	ISS
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IMP
GO:0003700	DNA-binding transcription factor activity	ISS
GO:0003700	DNA-binding transcription factor activity	IBA
GO:0005515	protein binding	IPI
GO:0031490	chromatin DNA binding	IDA
GO:0043565	sequence-specific DNA binding	IDA
GO:0043565	sequence-specific DNA binding	IBA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001843	neural tube closure	ISS
GO:0003208	cardiac ventricle morphogenesis	IEA
GO:0003382	epithelial cell morphogenesis	ISS
GO:0003382	epithelial cell morphogenesis	IMP
GO:0006357	regulation of transcription by RNA polymerase II	IBA
GO:0007155	cell adhesion	IMP
GO:0007420	brain development	IBA
GO:0008283	cell population proliferation	IMP
GO:0008544	epidermis development	IDA
GO:0021915	neural tube development	IBA
GO:0034329	cell junction assembly	IMP
GO:0035264	multicellular organism growth	IEA
GO:0042733	embryonic digit morphogenesis	IEA
GO:0043010	camera-type eye development	IEA
GO:0044030	regulation of DNA methylation	IMP
GO:0044030	regulation of DNA methylation	IDA
GO:0045617	negative regulation of keratinocyte differentiation	IDA
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP
GO:0048701	embryonic cranial skeleton morphogenesis	IEA
GO:0051973	positive regulation of telomerase activity	IMP
GO:0060324	face development	IEA
GO:0060463	lung lobe morphogenesis	IEA
GO:0060487	lung epithelial cell differentiation	ISS
GO:0060672	epithelial cell morphogenesis involved in placental branching	IEA
GO:0061713	anterior neural tube closure	IEA
GO:0070830	bicellular tight junction assembly	IMP
GO:0090132	epithelium migration	ISS

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0000790	nuclear chromatin	ISA
GO:0005634	nucleus	IDA
GO:0005634	nucleus	IBA
GO:0005654	nucleoplasm	IDA
GO:0005911	cell-cell junction	IDA
GO:0016020	membrane	IEA

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
C070055	2,3',4,4',5-pentachlorobiphenyl	2,3',4,4',5-pentachlorobiphenyl results in increased expression of GRHL2 mRNA	31388691
C006551	2-amino-2-methyl-1-propanol	2-amino-2-methyl-1-propanol results in decreased expression of GRHL2 mRNA	25088246
C009505	4,4'-diaminodiphenylmethane	4,4'-diaminodiphenylmethane results in increased expression of GRHL2 mRNA	18648102
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with mercuric bromide 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 increased expression of GRHL2 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 increased expression of GRHL2 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 increased expression of GRHL2 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 increased expression of GRHL2 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 increased expression of GRHL2 mRNA	27188386
C496492	abrine	abrine results in decreased expression of GRHL2 mRNA	22595364
D001280	Atrazine	Atrazine results in increased expression of GRHL2 mRNA	25929836
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of GRHL2 mRNA	30951980
C006780	bisphenol A	bisphenol A affects the methylation of GRHL2 promoter	27334623
C006780	bisphenol A	bisphenol A results in increased expression of GRHL2 mRNA	26063408; 30951980;
C006780	bisphenol A	bisphenol A results in decreased expression of GRHL2 mRNA	25181051
C006780	bisphenol A	bisphenol A results in increased methylation of GRHL2 gene	28505145
C000611646	bisphenol F	bisphenol F results in increased expression of GRHL2 mRNA	30951980
D002117	Calcitriol	Calcitriol results in increased expression of GRHL2 mRNA	26485663
D002220	Carbamazepine	Carbamazepine affects the expression of GRHL2 mRNA	25979313
D003300	Copper	Copper deficiency results in increased expression of GRHL2 mRNA	26033743
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate results in increased expression of GRHL2 mRNA	31163220
D013196	Dihydrotestosterone	Dihydrotestosterone results in increased expression of GRHL2 mRNA	29581250
C516138	dorsomorphin	[NOG protein co-treated with mercuric bromide 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 increased expression of GRHL2 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 increased expression of GRHL2 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 increased expression of GRHL2 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 increased expression of GRHL2 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 increased expression of GRHL2 mRNA	27188386
D004958	Estradiol	[Estradiol co-treated with TGFB1 protein] results in decreased expression of GRHL2 mRNA	30165855
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of GRHL2 mRNA	23129252
D017313	Fenretinide	Fenretinide results in increased expression of GRHL2 mRNA	28973697
D019344	Lactic Acid	Lactic Acid results in decreased expression of GRHL2 mRNA	30851411
D019259	Lamivudine	[Zidovudine co-treated with Lamivudine] results in decreased expression of GRHL2 mRNA	16931933
C042720	mercuric bromide	mercuric bromide results in increased expression of GRHL2 mRNA	26272509
C042720	mercuric bromide	[NOG protein co-treated with mercuric bromide 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 increased expression of GRHL2 mRNA	27188386
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in decreased expression of GRHL2 mRNA	25554681
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 increased expression of GRHL2 mRNA	27188386
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 increased expression of GRHL2 mRNA	27188386
D010662	Phenylmercuric Acetate	Phenylmercuric Acetate results in increased expression of GRHL2 mRNA	26272509
C006253	pirinixic acid	pirinixic acid results in increased expression of GRHL2 mRNA	20813756
D012822	Silicon Dioxide	Silicon Dioxide analog results in decreased expression of GRHL2 mRNA	23806026
D018030	Silver Compounds	Silver Compounds results in decreased expression of GRHL2 mRNA	29703973
D012906	Smoke	Smoke results in decreased expression of GRHL2 mRNA	21095227
C017947	sodium arsenite	sodium arsenite affects the expression of GRHL2 mRNA	29319823
C017947	sodium arsenite	sodium arsenite results in increased expression of GRHL2 mRNA	29301061
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of GRHL2 mRNA	21570461; 24058054;
C009495	titanium dioxide	titanium dioxide results in increased expression of GRHL2 mRNA	23557971
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 increased expression of GRHL2 mRNA	27188386
C012589	trichostatin A	trichostatin A results in increased expression of GRHL2 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 increased expression of GRHL2 mRNA	27188386
D014635	Valproic Acid	Valproic Acid affects the expression of GRHL2 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in increased expression of GRHL2 mRNA	23179753; 24383497; 24935251; 26272509;
C029297	vinylidene chloride	vinylidene chloride results in decreased expression of GRHL2 mRNA	26682919
D015215	Zidovudine	[Zidovudine co-treated with Lamivudine] results in decreased expression of GRHL2 mRNA	16931933

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0010	Activator
KW-0025	Alternative splicing
KW-1212	Corneal dystrophy
KW-0209	Deafness
KW-0225	Disease mutation
KW-0238	DNA-binding
KW-0242	Dwarfism
KW-0038	Ectodermal dysplasia
KW-0472	Membrane
KW-1010	Non-syndromic deafness
KW-0539	Nucleus
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0804	Transcription
KW-0805	Transcription regulation

Interpro

InterPro ID	InterPro Term
IPR007604	CP2
IPR040167	TF_CP2-like

PROSITE

PROSITE ID	PROSITE Term

Pfam

Pfam ID	Pfam Term
PF04516	CP2