CleftGeneDB-Search

Gene: PITX2

Basic information

Tag	Content
Uniprot ID	Q99697; A8K6C6; B2RA02; B3KXS0; O60578; O60579; O60580; Q3KQX9; Q9BY17;
Entrez ID	5308
Genbank protein ID	AAC39718.1; AAC39717.1; AAH13998.1; AAK15048.1; EAX06263.1; AAC39716.1; BAF84280.1; EAX06262.1; EAX06264.1; AAI06011.1; BAG54582.1; BAG36699.1; AAC16257.1;
Genbank nucleotide ID	XM_011532027.2; NM_153426.2; NM_000325.5; NM_001204399.1; NM_001204397.1; NM_001204398.1; NM_153427.2;
Ensembl protein ID	ENSP00000347004; ENSP00000378095; ENSP00000481951; ENSP00000347192; ENSP00000495061; ENSP00000484909; ENSP00000484763;
Ensembl nucleotide ID	ENSG00000164093
Gene name	Pituitary homeobox 2
Gene symbol	PITX2
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Controls cell proliferation in a tissue-specific manner and is involved in morphogenesis. During embryonic development, exerts a role in the expansion of muscle progenitors. May play a role in the proper localization of asymmetric organs such as the heart and stomach. Isoform PTX2C is involved in left-right asymmetry the developing embryo (By similarity).
Sequence	METNCRKLVS ACVQLGVQPA AVECLFSKDS EIKKVEFTDS PESRKEAASS KFFPRQHPGA 60 NEKDKSQQGK NEDVGAEDPS KKKRQRRQRT HFTSQQLQEL EATFQRNRYP DMSTREEIAV 120 WTNLTEARVR VWFKNRRAKW RKRERNQQAE LCKNGFGPQF NGLMQPYDDM YPGYSYNNWA 180 AKGLTSASLS TKSFPFFNSM NVNPLSSQSM FSPPNSISSM SMSSSMVPSA VTGVPGSSLN 240 SLNNLNNLSS PSLNSAVPTP ACPYAPPTPP YVYRDTCNSS LASLRLKAKQ HSSFGYASVQ 300 NPASNLSACQ YAVDRPV 317

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
2L7F
2L7M
2LKX
2L7F

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Developmental stage	Species	Evidence	Details
1:1 ortholog	PITX2	506721	A5D7J4			Bos taurus	Prediction	More>>
1:1 ortholog	PITX2	487902	E2R5R2			Canis lupus familiaris	Prediction	More>>
1:1 ortholog	PITX2	102180740	A0A452E417			Capra hircus	Prediction	More>>
1:1 ortholog	PITX2	5308	Q99697			Homo sapiens	Prediction	More>>
1:1 ortholog	Pitx2	18741	P97474	CPO	E14.5	Mus musculus	Publication	More>>
1:1 ortholog	PITX2	461438	K7DFT6			Pan troglodytes	Prediction	More>>
1:1 ortholog	PITX2		A0A287AUF8			Sus scrofa	Prediction	More>>
1:1 ortholog	Pitx2	54284	Q9R0W1			Rattus norvegicus	Prediction	More>>
1:1 ortholog	pitx2	30164	Q9W5Z2			Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1165780730	p.Glu2Ala	missense variant	-	NC_000004.12:g.110632994T>G	gnomAD
COSM6098673	p.Thr3Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.110632991G>T	NCI-TCGA Cosmic
rs200683912	p.Cys5Arg	missense variant	-	NC_000004.12:g.110632986A>G	ExAC,TOPMed,gnomAD
rs200683912	p.Cys5Gly	missense variant	-	NC_000004.12:g.110632986A>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg6ProPheSerTerUnkUnk	frameshift	-	NC_000004.12:g.110632982C>-	NCI-TCGA
NCI-TCGA novel	p.Arg6Ser	missense variant	-	NC_000004.12:g.110632983G>T	NCI-TCGA
rs1186590886	p.Lys7Thr	missense variant	-	NC_000004.12:g.110632979T>G	gnomAD
rs1475525896	p.Val9Leu	missense variant	-	NC_000004.12:g.110632974C>G	TOPMed
rs1252129615	p.Val9Ala	missense variant	-	NC_000004.12:g.110632973A>G	gnomAD
NCI-TCGA novel	p.Val9Leu	missense variant	-	NC_000004.12:g.110632974C>A	NCI-TCGA
rs139906074	p.Ser10Thr	missense variant	-	NC_000004.12:g.110632971A>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser10Leu	missense variant	-	NC_000004.12:g.110632970G>A	NCI-TCGA
rs373848340	p.Ala11Val	missense variant	-	NC_000004.12:g.110632967G>A	ESP,ExAC,gnomAD
rs373848340	p.Ala11Val	missense variant	-	NC_000004.12:g.110632967G>A	NCI-TCGA
rs1341809376	p.Cys12Arg	missense variant	-	NC_000004.12:g.110632965A>G	gnomAD
rs374524467	p.Val13Gly	missense variant	-	NC_000004.12:g.110632961A>C	TOPMed,gnomAD
NCI-TCGA novel	p.Gln14Ter	stop gained	-	NC_000004.12:g.110632959G>A	NCI-TCGA
rs778111934	p.Leu15Ser	missense variant	-	NC_000004.12:g.110632955A>G	ExAC,TOPMed,gnomAD
rs1333326474	p.Gly16Asp	missense variant	-	NC_000004.12:g.110632480C>T	gnomAD
rs760317329	p.Val17Leu	missense variant	-	NC_000004.12:g.110632478C>A	ExAC,TOPMed,gnomAD
rs760317329	p.Val17Met	missense variant	-	NC_000004.12:g.110632478C>T	ExAC,TOPMed,gnomAD
RCV000372438	p.Ala20Val	missense variant	-	NC_000004.12:g.110632468G>A	ClinVar
NCI-TCGA novel	p.Ala20Glu	missense variant	-	NC_000004.12:g.110632468G>T	NCI-TCGA
rs150684621	p.Ala20Val	missense variant	-	NC_000004.12:g.110632468G>A	ESP,ExAC,TOPMed,gnomAD
rs771505272	p.Val22Leu	missense variant	-	NC_000004.12:g.110632463C>G	ExAC,gnomAD
COSM5865583	p.Val22Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.110632463C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu23Gly	missense variant	-	NC_000004.12:g.110632459T>C	NCI-TCGA
rs763204161	p.Glu23Lys	missense variant	-	NC_000004.12:g.110632460C>T	ExAC,gnomAD
rs201299310	p.Ser27Phe	missense variant	-	NC_000004.12:g.110632447G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser27Tyr	missense variant	-	NC_000004.12:g.110632447G>T	NCI-TCGA
rs770173811	p.Asp29Tyr	missense variant	-	NC_000004.12:g.110632442C>A	ExAC,gnomAD
rs748305151	p.Val35Ala	missense variant	-	NC_000004.12:g.110632423A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val35Phe	missense variant	-	NC_000004.12:g.110632424C>A	NCI-TCGA
rs1179183659	p.Glu36Gly	missense variant	-	NC_000004.12:g.110632420T>C	gnomAD
rs781408424	p.Glu36Lys	missense variant	-	NC_000004.12:g.110632421C>T	ExAC,gnomAD
rs753677423	p.Thr38Ala	missense variant	-	NC_000004.12:g.110632415T>C	ExAC,TOPMed,gnomAD
rs779828091	p.Asp39Asn	missense variant	-	NC_000004.12:g.110632412C>T	ExAC,gnomAD
rs779828091	p.Asp39Tyr	missense variant	-	NC_000004.12:g.110632412C>A	ExAC,gnomAD
NCI-TCGA novel	p.Asp39Gly	missense variant	-	NC_000004.12:g.110632411T>C	NCI-TCGA
rs963550558	p.Asp39Glu	missense variant	-	NC_000004.12:g.110632410G>T	gnomAD
rs758414076	p.Pro41Ala	missense variant	-	NC_000004.12:g.110632406G>C	ExAC,TOPMed,gnomAD
rs758414076	p.Pro41Ser	missense variant	-	NC_000004.12:g.110632406G>A	ExAC,TOPMed,gnomAD
rs1405688570	p.Pro41Leu	missense variant	-	NC_000004.12:g.110632405G>A	TOPMed
rs750353276	p.Lys45Arg	missense variant	-	NC_000004.12:g.110632393T>C	ExAC,gnomAD
rs1420879854	p.Glu46Ala	missense variant	-	NC_000004.12:g.110632390T>G	TOPMed
NCI-TCGA novel	p.Ala48Thr	missense variant	-	NC_000004.12:g.110632385C>T	NCI-TCGA
COSM1050088	p.Ser49Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.110632381C>T	NCI-TCGA Cosmic
rs1159157912	p.Ser50Arg	missense variant	-	NC_000004.12:g.110632379T>G	TOPMed
rs908902146	p.Lys51Glu	missense variant	-	NC_000004.12:g.110632376T>C	TOPMed
rs908902146	p.Lys51Ter	stop gained	-	NC_000004.12:g.110632376T>A	TOPMed
rs753524953	p.His57Gln	missense variant	-	NC_000004.12:g.110632356A>T	ExAC,TOPMed,gnomAD
rs763902543	p.Pro58Ala	missense variant	-	NC_000004.12:g.110632355G>C	ExAC,gnomAD
VAR_082833	p.Phe58Leu	Missense	Anterior segment dysgenesis 4 (ASGD4) [MIM:137600]	-	UniProt
rs1238878083	p.Gly59Ala	missense variant	-	NC_000004.12:g.110632351C>G	gnomAD
rs1278211311	p.Ala60Ser	missense variant	-	NC_000004.12:g.110632349C>A	TOPMed
rs766958445	p.Asn61Ile	missense variant	-	NC_000004.12:g.110632345T>A	ExAC,gnomAD
rs909606889	p.Lys65Arg	missense variant	-	NC_000004.12:g.110621360T>C	TOPMed,gnomAD
RCV000591120	p.Lys65Arg	missense variant	-	NC_000004.12:g.110621360T>C	ClinVar
rs753935193	p.Gln67Leu	missense variant	-	NC_000004.12:g.110621354T>A	ExAC,gnomAD
rs753935193	p.Gln67Pro	missense variant	-	NC_000004.12:g.110621354T>G	ExAC,gnomAD
rs201628949	p.Gln68Arg	missense variant	-	NC_000004.12:g.110621351T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs201628949	p.Gln68Pro	missense variant	-	NC_000004.12:g.110621351T>G	1000Genomes,ExAC,TOPMed,gnomAD
RCV000304723	p.Gln68Pro	missense variant	Iridogoniodysgenesis, dominant type (ASGD4)	NC_000004.12:g.110621351T>G	ClinVar
RCV000300585	p.Gln68Pro	missense variant	Irido-corneo-trabecular dysgenesis (ASGD5)	NC_000004.12:g.110621351T>G	ClinVar
RCV000393111	p.Gln68Pro	missense variant	PITX2-Related Eye Abnormalities	NC_000004.12:g.110621351T>G	ClinVar
RCV000344354	p.Gln68Pro	missense variant	Ring dermoid of cornea (RDC)	NC_000004.12:g.110621351T>G	ClinVar
RCV000264197	p.Gln68Pro	missense variant	Axenfeld-Rieger Syndrome	NC_000004.12:g.110621351T>G	ClinVar
RCV000355389	p.Gln68Pro	missense variant	Anterior segment mesenchymal dysgenesis (ASGD1)	NC_000004.12:g.110621351T>G	ClinVar
RCV000359478	p.Gln68Pro	missense variant	Cataract	NC_000004.12:g.110621351T>G	ClinVar
rs1197059338	p.Lys70Asn	missense variant	-	NC_000004.12:g.110621344C>G	TOPMed
rs755404910	p.Asn71Lys	missense variant	-	NC_000004.12:g.110621341A>T	ExAC,gnomAD
rs781343571	p.Asn71His	missense variant	-	NC_000004.12:g.110621343T>G	ExAC,gnomAD
rs1326661822	p.Asp73Glu	missense variant	-	NC_000004.12:g.110621335G>C	gnomAD
rs535881495	p.Val74Met	missense variant	-	NC_000004.12:g.110621334C>T	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Val74Ala	missense variant	-	NC_000004.12:g.110621333A>G	NCI-TCGA
rs766774222	p.Gly75Asp	missense variant	-	NC_000004.12:g.110621330C>T	ExAC,gnomAD
rs763095137	p.Ala76Val	missense variant	-	NC_000004.12:g.110621327G>A	ExAC,TOPMed,gnomAD
rs763095137	p.Ala76Gly	missense variant	-	NC_000004.12:g.110621327G>C	ExAC,TOPMed,gnomAD
rs765382079	p.Glu77Lys	missense variant	-	NC_000004.12:g.110621325C>T	ExAC,gnomAD
NCI-TCGA novel	p.Asp78Val	missense variant	-	NC_000004.12:g.110621321T>A	NCI-TCGA
rs1231505078	p.Pro79Gln	missense variant	-	NC_000004.12:g.110621318G>T	gnomAD
NCI-TCGA novel	p.Pro79Leu	missense variant	-	NC_000004.12:g.110621318G>A	NCI-TCGA
NCI-TCGA novel	p.Lys82Asn	missense variant	-	NC_000004.12:g.110621308C>G	NCI-TCGA
rs28936409	p.Arg84Leu	missense variant	-	NC_000004.12:g.110621303C>A	ExAC,gnomAD
rs28936409	p.Arg84Pro	missense variant	-	NC_000004.12:g.110621303C>G	ExAC,gnomAD
rs28936409	p.Arg84Gln	missense variant	-	NC_000004.12:g.110621303C>T	ExAC,gnomAD
NCI-TCGA novel	p.Arg84Trp	missense variant	-	NC_000004.12:g.110621304G>A	NCI-TCGA
rs1434250665	p.Gln85Arg	missense variant	-	NC_000004.12:g.110621300T>C	TOPMed
rs1177438249	p.Arg86Lys	missense variant	-	NC_000004.12:g.110621297C>T	gnomAD
rs1202334475	p.Arg87Trp	missense variant	-	NC_000004.12:g.110621295G>A	gnomAD
rs760524995	p.Thr93Pro	missense variant	-	NC_000004.12:g.110621277T>G	ExAC,gnomAD
COSM3599167	p.Thr93Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.110621276G>A	NCI-TCGA Cosmic
COSM1220688	p.Gln95Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.110621271G>A	NCI-TCGA Cosmic
rs1553922901	p.Gln96Ter	stop gained	-	NC_000004.12:g.110621268G>A	-
RCV000584539	p.Gln96Ter	nonsense	Rieger syndrome (RIEG)	NC_000004.12:g.110621268G>A	ClinVar
NCI-TCGA novel	p.Glu99Ter	stop gained	-	NC_000004.12:g.110621259C>A	NCI-TCGA
rs104893857	p.Leu100Gln	missense variant	-	NC_000004.12:g.110621255A>T	-
rs104893857	p.Leu100Gln	missense variant	Axenfeld-Rieger syndrome 1 (RIEG1)	NC_000004.12:g.110621255A>T	UniProt,dbSNP
VAR_003763	p.Leu100Gln	missense variant	Axenfeld-Rieger syndrome 1 (RIEG1)	NC_000004.12:g.110621255A>T	UniProt
RCV000008551	p.Leu100Gln	missense variant	Axenfeld-Rieger syndrome type 1 (RIEG1)	NC_000004.12:g.110621255A>T	ClinVar
rs868726797	p.Arg106Ser	missense variant	-	NC_000004.12:g.110621236C>A	TOPMed
rs104893862	p.Arg108His	missense variant	Ring dermoid of cornea (rdc)	NC_000004.12:g.110621231C>T	-
rs104893862	p.Arg108His	missense variant	Ring dermoid of cornea (RDC)	NC_000004.12:g.110621231C>T	UniProt,dbSNP
VAR_035027	p.Arg108His	missense variant	Ring dermoid of cornea (RDC)	NC_000004.12:g.110621231C>T	UniProt
RCV000416516	p.Arg108Ter	frameshift	Axenfeld-Rieger syndrome type 1 (RIEG1)	NC_000004.12:g.110621213_110621234del	ClinVar
RCV000008562	p.Arg108His	missense variant	Ring dermoid of cornea (RDC)	NC_000004.12:g.110621231C>T	ClinVar
RCV000416527	p.Pro110Leu	missense variant	Axenfeld-Rieger syndrome type 1 (RIEG1)	NC_000004.12:g.110621225G>A	ClinVar
rs1057519484	p.Pro110Leu	missense variant	-	NC_000004.12:g.110621225G>A	-
VAR_058736	p.Pro110Arg	Missense	Axenfeld-Rieger syndrome 1 (RIEG1) [MIM:180500]	-	UniProt
rs104893858	p.Thr114Ala	missense variant	-	NC_000004.12:g.110621214T>C	gnomAD
rs104893858	p.Thr114Pro	missense variant	-	NC_000004.12:g.110621214T>G	gnomAD
rs104893858	p.Thr114Pro	missense variant	Axenfeld-Rieger syndrome 1 (RIEG1)	NC_000004.12:g.110621214T>G	UniProt,dbSNP
VAR_003764	p.Thr114Pro	missense variant	Axenfeld-Rieger syndrome 1 (RIEG1)	NC_000004.12:g.110621214T>G	UniProt
RCV000543429	p.Thr114Ter	frameshift	Axenfeld-Rieger syndrome type 1 (RIEG1)	NC_000004.12:g.110621214dup	ClinVar
RCV000008553	p.Thr114Pro	missense variant	Axenfeld-Rieger syndrome type 1 (RIEG1)	NC_000004.12:g.110621214T>G	ClinVar
rs104893861	p.Arg115His	missense variant	-	NC_000004.12:g.110621210C>T	-
rs104893861	p.Arg115His	missense variant	Anterior segment dysgenesis 4 (ASGD4)	NC_000004.12:g.110621210C>T	UniProt,dbSNP
VAR_003765	p.Arg115His	missense variant	Anterior segment dysgenesis 4 (ASGD4)	NC_000004.12:g.110621210C>T	UniProt
RCV000008558	p.Arg115His	missense variant	Iridogoniodysgenesis, dominant type (ASGD4)	NC_000004.12:g.110621210C>T	ClinVar
RCV000271871	p.Arg115His	missense variant	-	NC_000004.12:g.110621210C>T	ClinVar
rs1335923324	p.Glu116Lys	missense variant	-	NC_000004.12:g.110621208C>T	TOPMed,gnomAD
COSM1050083	p.Glu117Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.110621205C>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu117Ter	stop gained	-	NC_000004.12:g.110621205C>A	NCI-TCGA
NCI-TCGA novel	p.Glu117Lys	missense variant	-	NC_000004.12:g.110621205C>T	NCI-TCGA
COSM3824960	p.Ile118Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.110621202T>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala119Ser	missense variant	-	NC_000004.12:g.110621199C>A	NCI-TCGA
rs1460126633	p.Val120Leu	missense variant	-	NC_000004.12:g.110621196C>G	TOPMed
NCI-TCGA novel	p.Trp121Cys	missense variant	-	NC_000004.12:g.110621191C>A	NCI-TCGA
rs1422020095	p.Thr122Asn	missense variant	-	NC_000004.12:g.110621189G>T	gnomAD
COSM731962	p.Thr125Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.110621180G>A	NCI-TCGA Cosmic
rs1450441031	p.Glu126Lys	missense variant	-	NC_000004.12:g.110621178C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Arg128Gln	missense variant	-	NC_000004.12:g.110621171C>T	NCI-TCGA
VAR_035028	p.Arg128_Lys134del	inframe_deletion	Axenfeld-Rieger syndrome 1 (RIEG1) [MIM:180500]	-	UniProt
rs121909249	p.Val129Ile	missense variant	-	NC_000004.12:g.110621169C>T	gnomAD
rs121909249	p.Val129Leu	missense variant	-	NC_000004.12:g.110621169C>G	gnomAD
rs121909249	p.Val129Leu	missense variant	Axenfeld-Rieger syndrome 1 (RIEG1)	NC_000004.12:g.110621169C>G	UniProt,dbSNP
VAR_035029	p.Val129Leu	missense variant	Axenfeld-Rieger syndrome 1 (RIEG1)	NC_000004.12:g.110621169C>G	UniProt
RCV000008560	p.Val129Leu	missense variant	Axenfeld-Rieger syndrome type 1 (RIEG1)	NC_000004.12:g.110621169C>G	ClinVar
rs121909248	p.Arg130Trp	missense variant	-	NC_000004.12:g.110621166G>A	gnomAD
rs121909248	p.Arg130Trp	missense variant	Anterior segment dysgenesis 4 (ASGD4)	NC_000004.12:g.110621166G>A	UniProt,dbSNP
VAR_003762	p.Arg130Trp	missense variant	Anterior segment dysgenesis 4 (ASGD4)	NC_000004.12:g.110621166G>A	UniProt
RCV000008557	p.Arg130Trp	missense variant	Iridogoniodysgenesis, dominant type (ASGD4)	NC_000004.12:g.110621166G>A	ClinVar
rs772800095	p.Trp132Leu	missense variant	-	NC_000004.12:g.110618684C>A	ExAC,gnomAD
rs387906810	p.Lys134Glu	missense variant	-	NC_000004.12:g.110618679T>C	-
rs387906810	p.Lys134Glu	missense variant	Axenfeld-Rieger syndrome 1 (RIEG1)	NC_000004.12:g.110618679T>C	UniProt,dbSNP
VAR_058737	p.Lys134Glu	missense variant	Axenfeld-Rieger syndrome 1 (RIEG1)	NC_000004.12:g.110618679T>C	UniProt
RCV000023116	p.Lys134Glu	missense variant	Axenfeld-Rieger syndrome type 1 (RIEG1)	NC_000004.12:g.110618679T>C	ClinVar
COSM4399892	p.Arg136Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.110618672C>G	NCI-TCGA Cosmic
COSM4121380	p.Arg136Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.110618673G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg136His	missense variant	-	NC_000004.12:g.110618672C>T	NCI-TCGA
VAR_058738	p.Arg136Cys	Missense	Axenfeld-Rieger syndrome 1 (RIEG1) [MIM:180500]	-	UniProt
rs1057519485	p.Arg137Gly	missense variant	-	NC_000004.12:g.110618670G>C	-
rs104893859	p.Arg137Pro	missense variant	Axenfeld-Rieger syndrome 1 (RIEG1)	NC_000004.12:g.110618669C>G	UniProt,dbSNP
VAR_003766	p.Arg137Pro	missense variant	Axenfeld-Rieger syndrome 1 (RIEG1)	NC_000004.12:g.110618669C>G	UniProt
RCV000179024	p.Arg137Gln	missense variant	-	NC_000004.12:g.110618669C>T	ClinVar
COSM3599159	p.Arg137Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.110618670G>A	NCI-TCGA Cosmic
RCV000008555	p.Arg137Pro	missense variant	Axenfeld-Rieger syndrome type 1 (RIEG1)	NC_000004.12:g.110618669C>G	ClinVar
RCV000416552	p.Arg137Gly	missense variant	Axenfeld-Rieger syndrome type 1 (RIEG1)	NC_000004.12:g.110618670G>C	ClinVar
rs1057519486	p.Ala138Pro	missense variant	-	NC_000004.12:g.110618667C>G	-
RCV000416513	p.Ala138Pro	missense variant	Axenfeld-Rieger syndrome type 1 (RIEG1)	NC_000004.12:g.110618667C>G	ClinVar
rs747454924	p.Arg141Lys	missense variant	-	NC_000004.12:g.110618657C>T	ExAC,gnomAD
COSM4121378	p.Lys142Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.110618654T>C	NCI-TCGA Cosmic
rs772313984	p.Arg145Leu	missense variant	-	NC_000004.12:g.110618645C>A	ExAC,TOPMed,gnomAD
COSM1220686	p.Arg145Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.110618646G>A	NCI-TCGA Cosmic
rs1400360888	p.Ala149Thr	missense variant	-	NC_000004.12:g.110618634C>T	gnomAD
COSM1050081	p.Glu150Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.110618631C>T	NCI-TCGA Cosmic
COSM4121376	p.Leu151Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.110618627A>T	NCI-TCGA Cosmic
VAR_058739	p.Leu151Val	Missense	Axenfeld-Rieger syndrome 1 (RIEG1) [MIM:180500]	-	UniProt
COSM3824958	p.Lys153Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.110618622T>C	NCI-TCGA Cosmic
VAR_058740	p.Asn154Thr	Missense	Axenfeld-Rieger syndrome 1 (RIEG1) [MIM:180500]	-	UniProt
COSM3916971	p.Gly155Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.110618615C>T	NCI-TCGA Cosmic
rs1487199526	p.Gly155Arg	missense variant	-	NC_000004.12:g.110618616C>G	TOPMed
rs777760630	p.Phe156Cys	missense variant	-	NC_000004.12:g.110618612A>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly157Arg	missense variant	-	NC_000004.12:g.110618610C>T	NCI-TCGA
rs1184574850	p.Pro158Thr	missense variant	-	NC_000004.12:g.110618607G>T	gnomAD
rs754698054	p.Asn161Ser	missense variant	-	NC_000004.12:g.110618597T>C	ExAC,TOPMed,gnomAD
rs1462724749	p.Gly162Arg	missense variant	-	NC_000004.12:g.110618595C>T	gnomAD
rs1279512187	p.Met164Ile	missense variant	-	NC_000004.12:g.110618587C>T	gnomAD
rs751418961	p.Tyr167Cys	missense variant	-	NC_000004.12:g.110618579T>C	ExAC,TOPMed,gnomAD
COSM447238	p.Tyr167Ter	missense variant	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.110618578G>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp168Asn	missense variant	-	NC_000004.12:g.110618577C>T	NCI-TCGA
rs1277602218	p.Asp169Gly	missense variant	-	NC_000004.12:g.110618573T>C	TOPMed,gnomAD
COSM1050077	p.Asp169Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.110618573T>A	NCI-TCGA Cosmic
rs1242188090	p.Met170Val	missense variant	-	NC_000004.12:g.110618571T>C	TOPMed,gnomAD
rs1242188090	p.Met170Leu	missense variant	-	NC_000004.12:g.110618571T>G	TOPMed,gnomAD
rs766110695	p.Met170Thr	missense variant	-	NC_000004.12:g.110618570A>G	ExAC,gnomAD
rs1314320002	p.Met170Ile	missense variant	-	NC_000004.12:g.110618569C>G	gnomAD
rs527498517	p.Pro172Ser	missense variant	-	NC_000004.12:g.110618565G>A	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Pro172Gln	missense variant	-	NC_000004.12:g.110618564G>T	NCI-TCGA
rs1398320537	p.Ser175Cys	missense variant	-	NC_000004.12:g.110618555G>C	TOPMed
rs750107133	p.Tyr176Cys	missense variant	-	NC_000004.12:g.110618552T>C	ExAC,gnomAD
rs972015382	p.Asn178Ser	missense variant	-	NC_000004.12:g.110618546T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Asn178Lys	missense variant	-	NC_000004.12:g.110618545G>T	NCI-TCGA
rs104893860	p.Trp179Ter	stop gained	-	NC_000004.12:g.110618542C>T	-
RCV000008556	p.Trp179Ter	nonsense	Axenfeld-Rieger syndrome type 1 (RIEG1)	NC_000004.12:g.110618542C>T	ClinVar
rs77144743	p.Ala181Ser	missense variant	-	NC_000004.12:g.110618538C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000317910	p.Ala181Thr	missense variant	Iridogoniodysgenesis, dominant type (ASGD4)	NC_000004.12:g.110618538C>T	ClinVar
RCV000266378	p.Ala181Thr	missense variant	Anterior segment mesenchymal dysgenesis (ASGD1)	NC_000004.12:g.110618538C>T	ClinVar
RCV000372306	p.Ala181Thr	missense variant	Axenfeld-Rieger Syndrome	NC_000004.12:g.110618538C>T	ClinVar
rs77144743	p.Ala181Thr	missense variant	-	NC_000004.12:g.110618538C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000321309	p.Ala181Thr	missense variant	Ring dermoid of cornea (RDC)	NC_000004.12:g.110618538C>T	ClinVar
RCV000360966	p.Ala181Thr	missense variant	Irido-corneo-trabecular dysgenesis (ASGD5)	NC_000004.12:g.110618538C>T	ClinVar
RCV000262690	p.Ala181Thr	missense variant	Cataract	NC_000004.12:g.110618538C>T	ClinVar
RCV000375906	p.Ala181Thr	missense variant	PITX2-Related Eye Abnormalities	NC_000004.12:g.110618538C>T	ClinVar
COSM4121372	p.Leu184Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.110618529G>T	NCI-TCGA Cosmic
rs193920830	p.Ala187Thr	missense variant	-	NC_000004.12:g.110618520C>T	-
RCV000149104	p.Ala187Thr	missense variant	Malignant tumor of prostate	NC_000004.12:g.110618520C>T	ClinVar
rs774733901	p.Leu189Val	missense variant	-	NC_000004.12:g.110618514G>C	ExAC,gnomAD
COSM6165789	p.Leu189Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.110618513A>T	NCI-TCGA Cosmic
rs544781282	p.Thr191Ser	missense variant	-	NC_000004.12:g.110618507G>C	1000Genomes,ExAC,gnomAD
rs1487685918	p.Ser193Cys	missense variant	-	NC_000004.12:g.110618502T>A	TOPMed
NCI-TCGA novel	p.Ser193Asn	missense variant	-	NC_000004.12:g.110618501C>T	NCI-TCGA
rs1243520771	p.Phe194Leu	missense variant	-	NC_000004.12:g.110618497G>T	TOPMed
rs1475929130	p.Pro195Ser	missense variant	-	NC_000004.12:g.110618496G>A	TOPMed
rs748266578	p.Pro195His	missense variant	-	NC_000004.12:g.110618495G>T	ExAC,gnomAD
rs780968713	p.Phe197Val	missense variant	-	NC_000004.12:g.110618490A>C	ExAC,gnomAD
rs751484586	p.Asn198Asp	missense variant	-	NC_000004.12:g.110618487T>C	ExAC,gnomAD
rs779833505	p.Asn198Ser	missense variant	-	NC_000004.12:g.110618486T>C	ExAC,gnomAD
NCI-TCGA novel	p.Ser199Phe	missense variant	-	NC_000004.12:g.110618483G>A	NCI-TCGA
rs138163892	p.Met200Val	missense variant	-	NC_000004.12:g.110618481T>C	ESP,ExAC,TOPMed,gnomAD
RCV000754825	p.Met200Val	missense variant	Atrial fibrillation, familial, 1 (ATFB1)	NC_000004.12:g.110618481T>C	ClinVar
rs1012844194	p.Asn203Lys	missense variant	-	NC_000004.12:g.110618470G>C	TOPMed
rs893139859	p.Pro204Thr	missense variant	-	NC_000004.12:g.110618469G>T	TOPMed
rs1299671377	p.Leu205Arg	missense variant	-	NC_000004.12:g.110618465A>C	gnomAD
COSM5400302	p.Ser206Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.110618463A>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser209Asn	missense variant	-	NC_000004.12:g.110618453C>T	NCI-TCGA
rs763539767	p.Met210Ile	missense variant	-	NC_000004.12:g.110618449C>G	ExAC,TOPMed,gnomAD
rs760018349	p.Ser212Cys	missense variant	-	NC_000004.12:g.110618444G>C	ExAC
rs1427158182	p.Pro214His	missense variant	-	NC_000004.12:g.110618438G>T	gnomAD
COSM731964	p.Pro214Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.110618439G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asn215Ser	missense variant	-	NC_000004.12:g.110618435T>C	NCI-TCGA
NCI-TCGA novel	p.Ser216Thr	missense variant	-	NC_000004.12:g.110618433A>T	NCI-TCGA
NCI-TCGA novel	p.Ser216Cys	missense variant	-	NC_000004.12:g.110618432G>C	NCI-TCGA
rs774730294	p.Ile217Val	missense variant	-	NC_000004.12:g.110618430T>C	ExAC,TOPMed,gnomAD
rs771311013	p.Ile217Ser	missense variant	-	NC_000004.12:g.110618429A>C	ExAC,gnomAD
rs774730294	p.Ile217Phe	missense variant	-	NC_000004.12:g.110618430T>A	ExAC,TOPMed,gnomAD
rs774730294	p.Ile217Leu	missense variant	-	NC_000004.12:g.110618430T>G	ExAC,TOPMed,gnomAD
rs763373195	p.Ser218Pro	missense variant	-	NC_000004.12:g.110618427A>G	ExAC,gnomAD
rs1488487670	p.Met220Leu	missense variant	-	NC_000004.12:g.110618421T>G	gnomAD
rs748391268	p.Met220Ile	missense variant	-	NC_000004.12:g.110618419C>T	ExAC,TOPMed,gnomAD
rs768622921	p.Met222Val	missense variant	-	NC_000004.12:g.110618415T>C	ExAC,gnomAD
COSM3373360	p.Ser223Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.110618411G>C	NCI-TCGA Cosmic
COSM1050071	p.Ser223Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.110618411G>A	NCI-TCGA Cosmic
rs746908680	p.Ser225Asn	missense variant	-	NC_000004.12:g.110618405C>T	ExAC,gnomAD
rs1336888015	p.Met226Val	missense variant	-	NC_000004.12:g.110618403T>C	gnomAD
rs1279698265	p.Val227Met	missense variant	-	NC_000004.12:g.110618400C>T	gnomAD
rs1337721533	p.Thr232Ser	missense variant	-	NC_000004.12:g.110618385T>A	gnomAD
RCV000416543	p.Thr232Ter	frameshift	Axenfeld-Rieger syndrome type 1 (RIEG1)	NC_000004.12:g.110618369_110618390del	ClinVar
NCI-TCGA novel	p.Thr232Ala	missense variant	-	NC_000004.12:g.110618385T>C	NCI-TCGA
rs758267195	p.Val234Ile	missense variant	-	NC_000004.12:g.110618379C>T	ExAC,TOPMed,gnomAD
rs1241621286	p.Pro235Thr	missense variant	-	NC_000004.12:g.110618376G>T	TOPMed
rs1301721326	p.Pro235Leu	missense variant	-	NC_000004.12:g.110618375G>A	gnomAD
NCI-TCGA novel	p.Pro235Gln	missense variant	-	NC_000004.12:g.110618375G>T	NCI-TCGA
NCI-TCGA novel	p.Pro235Arg	missense variant	-	NC_000004.12:g.110618375G>C	NCI-TCGA
NCI-TCGA novel	p.Pro235Ala	missense variant	-	NC_000004.12:g.110618376G>C	NCI-TCGA
rs146807994	p.Gly236Asp	missense variant	-	NC_000004.12:g.110618372C>T	ESP,ExAC,TOPMed,gnomAD
rs1408211743	p.Ser237Cys	missense variant	-	NC_000004.12:g.110618369G>C	gnomAD
rs1171626830	p.Ser241Arg	missense variant	-	NC_000004.12:g.110618356G>T	gnomAD
COSM1050069	p.Ser241Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.110618357C>A	NCI-TCGA Cosmic
COSM3373358	p.Asn243Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.110618350A>T	NCI-TCGA Cosmic
rs536920164	p.Leu245Trp	missense variant	-	NC_000004.12:g.110618345A>C	1000Genomes,ExAC,gnomAD
rs1160425277	p.Leu248Met	missense variant	-	NC_000004.12:g.110618337G>T	TOPMed
rs1489350701	p.Ser249Asn	missense variant	-	NC_000004.12:g.110618333C>T	gnomAD
COSM5185019	p.Ser249Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.110618334T>G	NCI-TCGA Cosmic
COSM6098674	p.Ser250Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.110618330C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro251Ser	missense variant	-	NC_000004.12:g.110618328G>A	NCI-TCGA
rs755635155	p.Leu253Pro	missense variant	-	NC_000004.12:g.110618321A>G	ExAC,gnomAD
RCV000416496	p.Ser255Ter	frameshift	Axenfeld-Rieger syndrome type 1 (RIEG1)	NC_000004.12:g.110618315_110618316del	ClinVar
rs1403575524	p.Ala256Val	missense variant	-	NC_000004.12:g.110618312G>A	TOPMed
rs149181425	p.Ala256Ser	missense variant	-	NC_000004.12:g.110618313C>A	ESP,ExAC,TOPMed,gnomAD
rs149181425	p.Ala256Thr	missense variant	-	NC_000004.12:g.110618313C>T	ESP,ExAC,TOPMed,gnomAD
rs149181425	p.Ala256Pro	missense variant	-	NC_000004.12:g.110618313C>G	ESP,ExAC,TOPMed,gnomAD
rs1454407904	p.Pro258Arg	missense variant	-	NC_000004.12:g.110618306G>C	TOPMed
COSM3408996	p.Thr259Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.110618304T>C	NCI-TCGA Cosmic
COSM1485607	p.Thr259Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.110618303G>A	NCI-TCGA Cosmic
rs1279482066	p.Pro260Arg	missense variant	-	NC_000004.12:g.110618300G>C	gnomAD
rs1057519489	p.Cys262Ter	stop gained	-	NC_000004.12:g.110618293A>T	-
RCV000416518	p.Cys262Ter	nonsense	Axenfeld-Rieger syndrome type 1 (RIEG1)	NC_000004.12:g.110618293A>T	ClinVar
rs775470219	p.Pro263Leu	missense variant	-	NC_000004.12:g.110618291G>A	ExAC,gnomAD
rs747126705	p.Pro263Ala	missense variant	-	NC_000004.12:g.110618292G>C	ExAC,gnomAD
rs747126705	p.Pro263Ser	missense variant	-	NC_000004.12:g.110618292G>A	ExAC,gnomAD
rs747126705	p.Pro263Thr	missense variant	-	NC_000004.12:g.110618292G>T	ExAC,gnomAD
NCI-TCGA novel	p.Pro263His	missense variant	-	NC_000004.12:g.110618291G>T	NCI-TCGA
rs371238455	p.Tyr264Phe	missense variant	-	NC_000004.12:g.110618288T>A	ESP,ExAC,TOPMed,gnomAD
RCV000082674	p.Tyr264Phe	missense variant	-	NC_000004.12:g.110618288T>A	ClinVar
NCI-TCGA novel	p.Tyr264Ter	stop gained	-	NC_000004.12:g.110618287G>C	NCI-TCGA
rs376861814	p.Pro266Thr	missense variant	-	NC_000004.12:g.110618283G>T	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Pro266Ala	missense variant	-	NC_000004.12:g.110618283G>C	NCI-TCGA
rs777353401	p.Pro267Gln	missense variant	-	NC_000004.12:g.110618279G>T	ExAC,gnomAD
rs1437787976	p.Thr268Ser	missense variant	-	NC_000004.12:g.110618276G>C	gnomAD
rs1239973105	p.Pro269Thr	missense variant	-	NC_000004.12:g.110618274G>T	gnomAD
rs1198667666	p.Pro270Arg	missense variant	-	NC_000004.12:g.110618270G>C	gnomAD
rs755618053	p.Tyr271Cys	missense variant	-	NC_000004.12:g.110618267T>C	ExAC,gnomAD
COSM1050065	p.Tyr273IlePheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.110618262A>-	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp275Val	missense variant	-	NC_000004.12:g.110618255T>A	NCI-TCGA
rs374542009	p.Thr276Ala	missense variant	-	NC_000004.12:g.110618253T>C	ESP,TOPMed,gnomAD
NCI-TCGA novel	p.Thr276Met	missense variant	-	NC_000004.12:g.110618252G>A	NCI-TCGA
rs1204765849	p.Cys277Ser	missense variant	-	NC_000004.12:g.110618250A>T	TOPMed
rs750934780	p.Ala282Val	missense variant	-	NC_000004.12:g.110618234G>A	ExAC,gnomAD
rs1234281342	p.Arg285Ser	missense variant	-	NC_000004.12:g.110618224T>A	gnomAD
COSM1495683	p.Lys289Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.110618214T>C	NCI-TCGA Cosmic
rs1196791376	p.His291Arg	missense variant	-	NC_000004.12:g.110618207T>C	gnomAD
rs1184603292	p.Phe294Cys	missense variant	-	NC_000004.12:g.110618198A>C	TOPMed
RCV000723092	p.Phe294Cys	missense variant	-	NC_000004.12:g.110618198A>C	ClinVar
rs762224214	p.Tyr296His	missense variant	-	NC_000004.12:g.110618193A>G	ExAC,gnomAD
rs1466785760	p.Ala297Gly	missense variant	-	NC_000004.12:g.110618189G>C	gnomAD
rs764265570	p.Ser298Arg	missense variant	-	NC_000004.12:g.110618185G>C	ExAC,gnomAD
rs760790139	p.Val299Leu	missense variant	-	NC_000004.12:g.110618184C>A	ExAC,TOPMed,gnomAD
rs760790139	p.Val299Met	missense variant	-	NC_000004.12:g.110618184C>T	ExAC,TOPMed,gnomAD
rs775387051	p.Asn305Ser	missense variant	-	NC_000004.12:g.110618165T>C	ExAC,gnomAD
NCI-TCGA novel	p.Asn305Lys	missense variant	-	NC_000004.12:g.110618164G>T	NCI-TCGA
rs571758306	p.Ser307Asn	missense variant	-	NC_000004.12:g.110618159C>T	1000Genomes,ExAC,TOPMed,gnomAD
COSM1327985	p.Ser307Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.110618159C>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala308Val	missense variant	-	NC_000004.12:g.110618156G>A	NCI-TCGA
rs774485351	p.Gln310Arg	missense variant	-	NC_000004.12:g.110618150T>C	ExAC,gnomAD
rs770843364	p.Arg315Gln	missense variant	-	NC_000004.12:g.110618135C>T	ExAC,TOPMed,gnomAD
rs1399453588	p.Arg315Trp	missense variant	-	NC_000004.12:g.110618136G>A	TOPMed
rs770843364	p.Arg315Pro	missense variant	-	NC_000004.12:g.110618135C>G	ExAC,TOPMed,gnomAD
rs747865049	p.Val317Leu	missense variant	-	NC_000004.12:g.110618130C>G	ExAC
rs747865049	p.Val317Leu	missense variant	-	NC_000004.12:g.110618130C>A	ExAC

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0000768	Congenital Abnormality	group	BEFREE
C0001430	Adenoma	group	BEFREE
C0001973	Alcoholic Intoxication, Chronic	disease	BEFREE
C0003076	Aniridia	disease	BEFREE;HPO
C0003466	Anus, Imperforate	disease	HPO
C0003467	Anxiety	disease	BEFREE
C0003469	Anxiety Disorders	group	BEFREE
C0003516	Aortopulmonary Septal Defect	disease	BEFREE
C0004238	Atrial Fibrillation	disease	BEFREE
C0004245	Atrioventricular Block	disease	BEFREE
C0005684	Malignant neoplasm of urinary bladder	disease	BEFREE
C0005695	Bladder Neoplasm	group	BEFREE
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0007115	Malignant neoplasm of thyroid	disease	BEFREE
C0007131	Non-Small Cell Lung Carcinoma	disease	BEFREE
C0007222	Cardiovascular Diseases	group	BEFREE
C0008073	Developmental Disabilities	group	BEFREE
C0008497	Choriocarcinoma	disease	BEFREE
C0009402	Colorectal Carcinoma	disease	BEFREE
C0010038	Corneal Opacity	phenotype	HPO
C0010068	Coronary heart disease	disease	BEFREE
C0011053	Deafness	phenotype	HPO
C0011649	Dermoid Cyst	disease	BEFREE
C0011881	Diabetic Nephropathy	disease	BEFREE
C0013069	Double Outlet Right Ventricle	disease	BEFREE;LHGDN
C0013384	Dyskinetic syndrome	disease	BEFREE
C0014116	Endocardial Cushion Defects	group	BEFREE
C0015393	Eye Abnormalities	group	BEFREE
C0016781	Fuchs Endothelial Dystrophy	disease	BEFREE
C0017601	Glaucoma	disease	BEFREE;HPO;LHGDN
C0017638	Glioma	disease	BEFREE
C0018772	Hearing Loss, Partial	phenotype	HPO
C0018798	Congenital Heart Defects	group	CTD_human;HPO
C0018799	Heart Diseases	group	BEFREE
C0018801	Heart failure	disease	BEFREE
C0018802	Congestive heart failure	disease	BEFREE
C0018817	Atrial Septal Defects	group	BEFREE
C0018818	Ventricular Septal Defects	group	BEFREE
C0020302	Hydrophthalmos	disease	BEFREE;HPO
C0020538	Hypertensive disease	group	BEFREE
C0020608	Hypodontia	disease	BEFREE;HPO
C0020676	Hypothyroidism	disease	RGD
C0021051	Immunologic Deficiency Syndromes	group	BEFREE
C0022360	Jaw Abnormalities	group	BEFREE
C0022680	Polycystic Kidney Diseases	group	RGD
C0023418	leukemia	disease	BEFREE
C0023903	Liver neoplasms	group	BEFREE
C0024636	Malocclusion	phenotype	BEFREE
C0026764	Multiple Myeloma	disease	BEFREE
C0026850	Muscular Dystrophy	disease	BEFREE
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0029434	Osteogenesis Imperfecta	disease	GENOMICS_ENGLAND
C0029925	Ovarian Carcinoma	disease	BEFREE
C0032000	Pituitary Adenoma	disease	BEFREE
C0032002	Pituitary Diseases	group	BEFREE
C0032580	Adenomatous Polyposis Coli	disease	BEFREE
C0033375	Prolactinoma	disease	BEFREE
C0033578	Prostatic Neoplasms	group	BEFREE
C0035869	Rotavirus Infections	group	BEFREE
C0036341	Schizophrenia	disease	BEFREE
C0036572	Seizures	phenotype	BEFREE
C0038379	Strabismus	disease	HPO
C0038454	Cerebrovascular accident	group	BEFREE;CTD_human
C0039494	Temporomandibular Joint Disorders	group	BEFREE
C0040427	Tooth Abnormalities	group	CTD_human
C0085281	Addictive Behavior	phenotype	BEFREE
C0085669	Acute leukemia	disease	BEFREE
C0086543	Cataract	disease	BEFREE;GENOMICS_ENGLAND
C0149893	Secondary glaucoma	disease	BEFREE
C0152252	Anterior synechiae	disease	HPO
C0153690	Secondary malignant neoplasm of bone	disease	BEFREE
C0154920	Pigmentary iris degeneration	phenotype	HPO
C0178874	Tumor Progression	phenotype	BEFREE
C0220656	Malignant ascites	disease	BEFREE
C0234245	Visceral Pain	phenotype	BEFREE
C0235259	Subcapsular cataract	phenotype	HPO
C0235480	Paroxysmal atrial fibrillation	disease	BEFREE
C0238461	Anaplastic thyroid carcinoma	disease	BEFREE
C0238463	Papillary thyroid carcinoma	disease	BEFREE
C0240310	Hypoplasia of the maxilla	disease	HPO
C0262374	Stricture of anus	phenotype	HPO
C0262444	Abnormality of the dentition	phenotype	HPO
C0265341	Rieger syndrome	disease	BEFREE;HPO;ORPHANET
C0266525	Irido-corneal dysgenesis	disease	BEFREE
C0266544	Microcornea	disease	HPO
C0266548	Axenfeld anomaly (disorder)	disease	BEFREE;ORPHANET
C0266617	Congenital anomaly of face	group	BEFREE;HPO
C0279626	Squamous cell carcinoma of esophagus	disease	BEFREE
C0280217	stage, non-small cell lung cancer	disease	BEFREE
C0339789	Congenital deafness	disease	HPO
C0342895	Fish-Eye Disease	disease	BEFREE
C0344530	Congenital keratoglobus	disease	HPO
C0344531	Embryotoxon	disease	HPO
C0344539	Hypoplasia of iris	disease	BEFREE;HPO
C0344544	Polycoria	disease	HPO
C0344559	Irido-corneo-trabecular dysgenesis (disorder)	disease	BEFREE;CTD_human;HPO;ORPHANET
C0346302	Growth Hormone-Secreting Pituitary Adenoma	disease	BEFREE
C0346429	Multiple malignancy	phenotype	BEFREE
C0376358	Malignant neoplasm of prostate	disease	BEFREE
C0376634	Craniofacial Abnormalities	group	CTD_human
C0392482	Common atrium	disease	BEFREE
C0424503	Dysmorphic facies	phenotype	HPO
C0424605	Developmental delay (disorder)	disease	BEFREE
C0428908	Sinus Node Dysfunction (disorder)	disease	BEFREE
C0477984	Other congenital malformations of anterior segment of eye	disease	MGD
C0521707	Bilateral cataracts (disorder)	disease	BEFREE
C0521719	Clouding of corneal stroma	disease	HPO
C0524730	Odontome	disease	CTD_human
C0525045	Mood Disorders	group	BEFREE
C0546967	Posterior embryotoxon	disease	HPO
C0549473	Thyroid carcinoma	disease	BEFREE
C0557874	Global developmental delay	disease	BEFREE
C0576962	Tooth problem	phenotype	HPO
C0596263	Carcinogenesis	phenotype	BEFREE
C0600139	Prostate carcinoma	disease	BEFREE
C0677886	Epithelial ovarian cancer	disease	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C0686347	Tardive Dyskinesia	disease	BEFREE
C0699885	Carcinoma of bladder	disease	BEFREE
C0740457	Malignant neoplasm of kidney	disease	BEFREE
C0751956	Acute Cerebrovascular Accidents	disease	CTD_human
C0752123	Spinocerebellar Ataxia Type 5	disease	BEFREE
C0848558	Hypospadias	group	HPO
C0850803	Anaphylaxis (non medication)	disease	BEFREE
C0919267	ovarian neoplasm	disease	BEFREE
C0936223	Metastatic Prostate Carcinoma	disease	BEFREE
C0947751	Vascular inflammations	phenotype	BEFREE
C0948008	Ischemic stroke	disease	BEFREE
C0948216	Ovarian adenocarcinoma	disease	BEFREE
C0948740	Hypoplasia of the pituitary gland	disease	BEFREE
C1140680	Malignant neoplasm of ovary	disease	BEFREE
C1167712	Corneal diameter increased	phenotype	HPO
C1167713	Decreased corneal diameter	phenotype	HPO
C1168401	Squamous cell carcinoma of the head and neck	disease	BEFREE
C1282496	Metastasis from malignant tumor of prostate	disease	BEFREE
C1378703	Renal carcinoma	disease	BEFREE
C1384666	hearing impairment	phenotype	HPO
C1385263	Deformity of face	phenotype	HPO
C1389018	Atrioventricular Septal Defect	disease	BEFREE
C1458155	Mammary Neoplasms	group	LHGDN
C1510586	Autism Spectrum Disorders	disease	BEFREE
C1527249	Colorectal Cancer	disease	BEFREE
C1535950	Gastrointestinal inflammation	disease	BEFREE
C1611743	Familial (FPAH)	disease	BEFREE
C1691215	Penile hypospadias	disease	HPO
C1839764	Broad flat nasal bridge	phenotype	HPO
C1842031	IRIDOGONIODYSGENESIS, TYPE 2	disease	BEFREE;CLINVAR;CTD_human;UNIPROT
C1842060	Prominent supraorbital ridges	phenotype	HPO
C1843687	ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder)	disease	ORPHANET
C1849367	Nasal bridge wide	phenotype	HPO
C1853242	Midface retrusion	phenotype	HPO
C1853246	Everted lower lip vermilion	phenotype	HPO
C1855670	Abnormality of the cornea	group	GENOMICS_ENGLAND;HPO
C1860344	Hypoplastic iris stroma	phenotype	HPO
C1861324	Short philtrum	phenotype	HPO
C1862376	Abnormally prominent line of Schwalbe	phenotype	HPO
C1862389	ATRIAL SEPTAL DEFECT 1	disease	BEFREE
C1862839	Anterior segment mesenchymal dysgenesis	disease	BEFREE
C1865017	Thin upper lip vermilion	phenotype	HPO
C1866234	Protruding lower lip	phenotype	HPO
C1867155	RING DERMOID OF CORNEA	disease	CLINVAR;CTD_human;ORPHANET;UNIPROT
C2239176	Liver carcinoma	disease	BEFREE
C2673410	Small midface	phenotype	HPO
C2733158	Cerebral Small Vessel Diseases	group	BEFREE
C2981140	Glaucoma of childhood	disease	BEFREE
C2986665	Early-Stage Breast Carcinoma	disease	BEFREE
C3152182	Anterior chamber anomalies	phenotype	HPO
C3495488	Axenfeld-Rieger syndrome	disease	BEFREE;ORPHANET
C3495489	Rieger eye malformation sequence	disease	BEFREE;ORPHANET
C3711383	Early-Onset Glaucoma	disease	BEFREE
C3714756	Intellectual Disability	group	GENOMICS_ENGLAND
C3714760	Drug-induced tardive dyskinesia	disease	BEFREE
C3714796	Isolated somatotropin deficiency	disease	HPO
C3714873	Axenfeld-Rieger Syndrome, Type 1	disease	BEFREE;CLINVAR;CTD_human;MGD;UNIPROT
C4020889	Cornela disease	disease	HPO
C4021664	Abnormality of the abdominal wall	phenotype	HPO
C4023327	Central opacification of the cornea	phenotype	HPO
C4024748	Aplasia/Hypoplasia of the iris	phenotype	HPO
C4025847	Abnormality of the conjunctiva	phenotype	HPO
C4048228	Congenital anomaly of anterior segment of eye	disease	BEFREE
C4049796	Abnormality of cardiovascular system morphology	disease	HPO
C4072832	Distortion of face	phenotype	HPO
C4072833	Funny looking face	phenotype	HPO
C4082243	Maxillary retrognathia	phenotype	HPO
C4082304	Oligodontia	disease	BEFREE
C4085595	AL-RAQAD SYNDROME	disease	BEFREE
C4280320	Hypotrophic midface	phenotype	HPO
C4280321	Decreased projection of midface	phenotype	HPO
C4280636	Hypertrophy of supraorbital ridge	phenotype	HPO
C4280637	Hypertrophy of supraorbital margins	phenotype	HPO
C4280638	Hyperplasia of supraorbital ridge	phenotype	HPO
C4280639	Hyperplasia of supraorbital margins	phenotype	HPO
C4280640	Retrusion of upper jaw bones	phenotype	HPO
C4280641	Hypotrophic maxilla	phenotype	HPO
C4280642	Deficiency of upper jaw bones	phenotype	HPO
C4280643	Decreased projection of maxilla	phenotype	HPO
C4477011	Thinning of Descemet membrane	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0000976	transcription regulatory region sequence-specific DNA binding	IDA
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
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:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA
GO:0001085	RNA polymerase II transcription factor binding	IBA
GO:0001102	RNA polymerase II activating transcription factor binding	IPI
GO:0003700	DNA-binding transcription factor activity	IDA
GO:0005515	protein binding	IPI
GO:0008134	transcription factor binding	IPI
GO:0043565	sequence-specific DNA binding	IBA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0003253	cardiac neural crest cell migration involved in outflow tract morphogenesis	ISS
GO:0006357	regulation of transcription by RNA polymerase II	IDA
GO:0007368	determination of left/right symmetry	ISS
GO:0009653	anatomical structure morphogenesis	IBA
GO:0035315	hair cell differentiation	IC
GO:0035993	deltoid tuberosity development	IMP
GO:0042476	odontogenesis	IMP
GO:0043010	camera-type eye development	IMP
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA
GO:0045944	positive regulation of transcription by RNA polymerase II	TAS
GO:0048536	spleen development	ISS
GO:0060126	somatotropin secreting cell differentiation	TAS
GO:0060127	prolactin secreting cell differentiation	TAS
GO:0061072	iris morphogenesis	IMP
GO:0061325	cell proliferation involved in outflow tract morphogenesis	ISS
GO:0070986	left/right axis specification	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:0005654	nucleoplasm	TAS
GO:0005667	transcription factor complex	IDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-212436	Generic Transcription Pathway	TAS
R-HSA-73857	RNA Polymerase II Transcription	TAS
R-HSA-74160	Gene expression (Transcription)	TAS
R-HSA-8864260	Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors	TAS
R-HSA-8866906	TFAP2 (AP-2) family regulates transcription of other transcription factors	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C111118	2',3,3',4',5-pentachloro-4-hydroxybiphenyl	2',3,3',4',5-pentachloro-4-hydroxybiphenyl results in decreased expression of PITX2 mRNA	19114083
C017906	3-dinitrobenzene	3-dinitrobenzene results in decreased expression of PITX2 mRNA	22841810; 24140754;
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 PITX2 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 PITX2 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 PITX2 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 PITX2 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 PITX2 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 increased expression of PITX2 mRNA	27188386
D015127	9,10-Dimethyl-1,2-benzanthracene	9,10-Dimethyl-1,2-benzanthracene results in decreased expression of PITX2 mRNA	22485181
C496492	abrine	abrine results in decreased expression of PITX2 mRNA	22595364
D020106	Acrylamide	Acrylamide results in increased expression of PITX2 mRNA	28959563
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of PITX2 gene	27153756
D000535	Aluminum	[APP protein modified form binds to Aluminum] which results in decreased expression of PITX2 mRNA	21298039
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of PITX2 mRNA	16483693
C015001	arsenite	arsenite results in increased methylation of PITX2 promoter	23974009
D001280	Atrazine	Atrazine results in decreased expression of PITX2 mRNA	25929836
C487081	belinostat	belinostat results in increased expression of PITX2 mRNA	26272509
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of PITX2 mRNA	22228805
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of PITX2 mRNA	22300585
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of PITX2 mRNA	21839799
C006780	bisphenol A	bisphenol A results in increased expression of PITX2 mRNA	30951980
C006780	bisphenol A	bisphenol A affects the expression of PITX2 mRNA	25181051
C006780	bisphenol A	bisphenol A results in decreased expression of PITX2 mRNA	27178563
C000611646	bisphenol F	bisphenol F results in increased expression of PITX2 mRNA	30951980
C584509	C646 compound	C646 compound results in increased expression of PITX2 mRNA	26921506
D002104	Cadmium	Cadmium results in decreased expression of PITX2 mRNA	31082426
D002110	Caffeine	Caffeine results in decreased expression of PITX2 mRNA	20864626
D002220	Carbamazepine	Carbamazepine affects the expression of PITX2 mRNA	22634333
D002762	Cholecalciferol	Cholecalciferol results in increased expression of PITX2 mRNA	17170073
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of PITX2 gene	20938992
D016572	Cyclosporine	Cyclosporine results in decreased expression of PITX2 mRNA	20106945
D003561	Cytarabine	Cytarabine results in decreased expression of PITX2 mRNA	21198554
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate results in increased expression of PITX2 mRNA	31163220
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 PITX2 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 PITX2 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 PITX2 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 PITX2 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 PITX2 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 increased expression of PITX2 mRNA	27188386
D004958	Estradiol	Estradiol results in decreased expression of PITX2 mRNA	20106945
C061365	flusilazole	flusilazole affects the expression of PITX2 mRNA	22634333
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of PITX2 gene	20938992
D006861	Hydrogen Peroxide	Hydrogen Peroxide affects the expression of PITX2 mRNA	20044591
C031927	hydroquinone	hydroquinone results in decreased expression of PITX2 mRNA	31256213
D007213	Indomethacin	Indomethacin results in decreased expression of PITX2 mRNA	25972201
D018021	Lithium Chloride	Lithium Chloride promotes the reaction [PITX2 protein binds to FGF16 promoter]	24253043
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 PITX2 mRNA	27188386
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of PITX2 gene	20938992
C013598	methoxyacetic acid	methoxyacetic acid results in decreased expression of PITX2 mRNA	20864626
C004925	methylmercuric chloride	methylmercuric chloride results in decreased expression of PITX2 mRNA	20864626
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in decreased expression of PITX2 mRNA	26011545
C028577	monobutyl phthalate	monobutyl phthalate results in decreased expression of PITX2 mRNA	20864626
D009536	Niacinamide	Niacinamide results in increased expression of PITX2 mRNA	29143419
D009536	Niacinamide	Niacinamide results in increased expression of PITX2 protein	29143419
D009532	Nickel	Nickel results in decreased expression of PITX2 mRNA	24768652; 25583101;
D009534	Niclosamide	Niclosamide results in decreased expression of PITX2 mRNA	31398420
C572573	N-nitroso-tris-chloroethylurea	[N-nitroso-tris-chloroethylurea co-treated with XL147] results in decreased expression of PITX2 mRNA	27935865
C558013	NSC 689534	NSC 689534 results in decreased expression of PITX2 mRNA	20971185
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 PITX2 mRNA	27188386
D000077767	Panobinostat	Panobinostat results in increased expression of PITX2 mRNA	26272509
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 PITX2 mRNA	27188386
D010662	Phenylmercuric Acetate	Phenylmercuric Acetate results in increased expression of PITX2 mRNA	26272509
C006253	pirinixic acid	NCF1 protein promotes the reaction [pirinixic acid results in decreased expression of PITX2 mRNA]	17950772
C006253	pirinixic acid	pirinixic acid results in decreased expression of PITX2 mRNA	17950772
D010936	Plant Extracts	Plant Extracts results in decreased expression of PITX2 mRNA	23557933
D011794	Quercetin	Quercetin results in increased expression of PITX2 mRNA	15309432
D012402	Rotenone	Rotenone results in decreased expression of PITX2 mRNA	29955902
D012822	Silicon Dioxide	Silicon Dioxide analog results in increased expression of PITX2 mRNA	23806026
D019821	Simvastatin	Simvastatin results in decreased expression of PITX2 mRNA	19262002
D013605	T-2 Toxin	T-2 Toxin results in decreased expression of PITX2 mRNA	31299295
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of PITX2 mRNA	16962184; 21570461; 24058054;
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin promotes the reaction [AHR protein binds to PITX2 promoter]	19654925
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of PITX2 mRNA	16922920
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of PITX2 mRNA	17586704
D014212	Tretinoin	Tretinoin results in increased expression of PITX2 mRNA	21934132; 30416051;
D014212	Tretinoin	Tretinoin results in increased expression of PITX2 protein	30416051
D014212	Tretinoin	Tretinoin results in decreased expression of PITX2 mRNA	20488242
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 PITX2 mRNA	27188386
C012589	trichostatin A	trichostatin A results in increased expression of PITX2 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 PITX2 mRNA	27188386
D014635	Valproic Acid	Valproic Acid results in decreased methylation of PITX2 gene	29154799
D014635	Valproic Acid	Valproic Acid results in increased expression of PITX2 mRNA	23179753; 23527032; 24383497; 24935251; 26272509; 28001369;
D001335	Vehicle Emissions	Vehicle Emissions results in increased methylation of PITX2 gene	25560391
D024483	Vitamin K 3	Vitamin K 3 affects the expression of PITX2 mRNA	20044591
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 increased expression of PITX2 mRNA	27188386
D000077337	Vorinostat	Vorinostat results in increased expression of PITX2 mRNA	26272509
C581157	XL147	[N-nitroso-tris-chloroethylurea co-treated with XL147] results in decreased expression of PITX2 mRNA	27935865

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0025	Alternative splicing
KW-0217	Developmental protein
KW-0225	Disease mutation
KW-0238	DNA-binding
KW-0371	Homeobox
KW-0539	Nucleus
KW-1059	Peters anomaly
KW-0597	Phosphoprotein
KW-1185	Reference proteome

Interpro

InterPro ID	InterPro Term
IPR009057	Homeobox-like_sf
IPR017970	Homeobox_CS
IPR001356	Homeobox_dom
IPR016233	Homeobox_Pitx/unc30
IPR003654	OAR_dom

PROSITE

PROSITE ID	PROSITE Term
PS00027	HOMEOBOX_1
PS50071	HOMEOBOX_2
PS50803	OAR

Pfam

Pfam ID	Pfam Term
PF00046	Homeodomain
PF03826	OAR

Gene: PITX2

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