CleftGeneDB-Search

Gene: KCNJ13

Basic information

Tag	Content
Uniprot ID	O60928; A0PGH1; O76023; Q53SA1; Q8N3Y4;
Entrez ID	3769
Genbank protein ID	AAX08099.1; CAA07552.1; BAG36730.1; AAC15769.1; EAW71019.1; AAD08673.1; AAX08098.1; BAA28271.1; AAH37290.1; BAA28273.1; AAX93190.1; CAA06878.1;
Genbank nucleotide ID	NM_002242.4; NM_001172416.1; NM_001172417.1;
Ensembl protein ID	ENSP00000386251; ENSP00000386408; ENSP00000233826;
Ensembl nucleotide ID	ENSG00000115474
Gene name	Inward rectifier potassium channel 13
Gene symbol	KCNJ13
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. KCNJ13 has a very low single channel conductance, low sensitivity to block by external barium and cesium, and no dependence of its inward rectification properties on the internal blocking particle magnesium.
Sequence	MDSSNCKVIA PLLSQRYRRM VTKDGHSTLQ MDGAQRGLAY LRDAWGILMD MRWRWMMLVF 60 SASFVVHWLV FAVLWYVLAE MNGDLELDHD APPENHTICV KYITSFTAAF SFSLETQLTI 120 GYGTMFPSGD CPSAIALLAI QMLLGLMLEA FITGAFVAKI ARPKNRAFSI RFTDTAVVAH 180 MDGKPNLIFQ VANTRPSPLT SVRVSAVLYQ ERENGKLYQT SVDFHLDGIS SDECPFFIFP 240 LTYYHSITPS SPLATLLQHE NPSHFELVVF LSAMQEGTGE ICQRRTSYLP SEIMLHHCFA 300 SLLTRGSKGE YQIKMENFDK TVPEFPTPLV SKSPNRTDLD IHINGQSIDN FQISETGLTE 360

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

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Developmental stage	Species	Evidence	Details
1:1 ortholog	KCNJ13	512288	E1BN00			Bos taurus	Prediction	More>>
1:1 ortholog	KCNJ13	477411	E2R7P4			Canis lupus familiaris	Prediction	More>>
1:1 ortholog	KCNJ13	102188013	A0A452F407			Capra hircus	Prediction	More>>
1:1 ortholog	KCNJ13	100057299	F7CJ39			Equus caballus	Prediction	More>>
1:1 ortholog	KCNJ13	3769	O60928			Homo sapiens	Prediction	More>>
1:1 ortholog	Kcnj13	100040591	P86046	CPO	E15.5, E18.5	Mus musculus	Publication	More>>
1:1 ortholog	KCNJ13	100615579	A0A2J8NEW2			Pan troglodytes	Prediction	More>>
1:1 ortholog	KCNJ13	100151780	I3LPQ3			Sus scrofa	Prediction	More>>
1:1 ortholog	KCNJ13	100009492	G1SJT5			Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Kcnj13	94341	O70617			Rattus norvegicus	Prediction	More>>
1:1 ortholog	kcnj13	555691	Q0KIZ7			Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1386527753	p.Ser3Gly	missense variant	-	NC_000002.12:g.232771356T>C	TOPMed
rs779944275	p.Ser3Asn	missense variant	-	NC_000002.12:g.232771355C>T	ExAC,TOPMed
rs1297475332	p.Ser4Gly	missense variant	-	NC_000002.12:g.232771353T>C	TOPMed
rs1019872986	p.Asn5Lys	missense variant	-	NC_000002.12:g.232771348A>C	TOPMed
rs140557196	p.Cys6Ser	missense variant	-	NC_000002.12:g.232771346C>G	ESP,ExAC,gnomAD
rs781442689	p.Lys7Arg	missense variant	-	NC_000002.12:g.232771343T>C	ExAC,gnomAD
rs757516316	p.Val8Leu	missense variant	-	NC_000002.12:g.232771341C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val8Gly	missense variant	-	NC_000002.12:g.232771340A>C	NCI-TCGA
rs143726189	p.Ile9Met	missense variant	-	NC_000002.12:g.232771336A>C	ESP,ExAC,TOPMed,gnomAD
rs752474252	p.Ile9Thr	missense variant	-	NC_000002.12:g.232771337A>G	ExAC,TOPMed,gnomAD
rs951223853	p.Leu12Val	missense variant	-	NC_000002.12:g.232771329G>C	TOPMed
rs1262517271	p.Leu13Val	missense variant	-	NC_000002.12:g.232771326G>C	TOPMed
rs1344890602	p.Leu13Pro	missense variant	-	NC_000002.12:g.232771325A>G	gnomAD
rs1308748448	p.Arg16Lys	missense variant	-	NC_000002.12:g.232771316C>T	gnomAD
rs1393312729	p.Tyr17His	missense variant	-	NC_000002.12:g.232771314A>G	gnomAD
rs144268831	p.Arg18Gln	missense variant	-	NC_000002.12:g.232771310C>T	ESP,ExAC,TOPMed,gnomAD
rs753827612	p.Arg18Trp	missense variant	-	NC_000002.12:g.232771311G>A	ExAC,gnomAD
rs1216035247	p.Thr22Ile	missense variant	-	NC_000002.12:g.232771298G>A	TOPMed
rs1261649348	p.Lys23Asn	missense variant	-	NC_000002.12:g.232771294C>G	TOPMed
rs760202322	p.Asp24Tyr	missense variant	-	NC_000002.12:g.232771293C>A	ExAC,gnomAD
rs1174827664	p.Gly25Asp	missense variant	-	NC_000002.12:g.232771289C>T	gnomAD
rs376151051	p.Leu29Phe	missense variant	-	NC_000002.12:g.232771278G>A	ESP,ExAC,TOPMed,gnomAD
rs539369632	p.Met31Ile	missense variant	-	NC_000002.12:g.232771270C>T	ExAC,gnomAD
rs769160785	p.Ala34Ser	missense variant	-	NC_000002.12:g.232771263C>A	ExAC,gnomAD
rs1345387152	p.Arg36Gly	missense variant	-	NC_000002.12:g.232771257T>C	gnomAD
NCI-TCGA novel	p.Gly37Asp	missense variant	-	NC_000002.12:g.232771253C>T	NCI-TCGA
rs776091698	p.Leu38Val	missense variant	-	NC_000002.12:g.232771251G>C	ExAC,gnomAD
rs1221570072	p.Ala39Gly	missense variant	-	NC_000002.12:g.232771247G>C	TOPMed,gnomAD
NCI-TCGA novel	p.Leu41Phe	missense variant	-	NC_000002.12:g.232771242G>A	NCI-TCGA
rs200415013	p.Arg42Ter	stop gained	-	NC_000002.12:g.232771239G>A	gnomAD
COSM1017866	p.Asp43Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.232771235T>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala44Val	missense variant	-	NC_000002.12:g.232771232G>A	NCI-TCGA
rs894185751	p.Gly46Glu	missense variant	-	NC_000002.12:g.232771226C>T	TOPMed
COSM3579128	p.Ile47Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.232771224T>G	NCI-TCGA Cosmic
rs745935897	p.Ile47Thr	missense variant	-	NC_000002.12:g.232771223A>G	ExAC,gnomAD
rs771136440	p.Met49Thr	missense variant	-	NC_000002.12:g.232771217A>G	ExAC,gnomAD
rs1396840547	p.Asp50Val	missense variant	-	NC_000002.12:g.232771214T>A	TOPMed,gnomAD
NCI-TCGA novel	p.Asp50Asn	missense variant	-	NC_000002.12:g.232771215C>T	NCI-TCGA
rs1335177310	p.Met51Thr	missense variant	-	NC_000002.12:g.232771211A>G	gnomAD
rs747234040	p.Met51Val	missense variant	-	NC_000002.12:g.232771212T>C	ExAC,gnomAD
rs1293854136	p.Arg52His	missense variant	-	NC_000002.12:g.232771208C>T	TOPMed
RCV000210439	p.Trp53Ter	nonsense	Leber congenital amaurosis 16 (LCA16)	NC_000002.12:g.232771205C>T	ClinVar
rs869320631	p.Trp53Ter	stop gained	Leber congenital amaurosis 16 (lca16)	NC_000002.12:g.232771205C>T	-
COSM5058737	p.Arg54His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.232771202C>T	NCI-TCGA Cosmic
rs754789407	p.Met57Ile	missense variant	-	NC_000002.12:g.232771192C>T	ExAC,gnomAD
rs1413398896	p.Met57Thr	missense variant	-	NC_000002.12:g.232771193A>G	TOPMed,gnomAD
rs753616368	p.Val65Phe	missense variant	-	NC_000002.12:g.232771170C>A	ExAC,gnomAD
rs1003135933	p.Trp68Ter	stop gained	-	NC_000002.12:g.232771159C>T	TOPMed,gnomAD
rs749946210	p.Val70Phe	missense variant	-	NC_000002.12:g.232771155C>A	ExAC,gnomAD
NCI-TCGA novel	p.Val70ThrPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.232771156_232771157insCAACTCACAATTGGTT	NCI-TCGA
rs77818131	p.Ala72Ser	missense variant	-	NC_000002.12:g.232771149C>A	ExAC,gnomAD
rs761501599	p.Val73Ala	missense variant	-	NC_000002.12:g.232771145A>G	ExAC
rs1225523589	p.Val73Met	missense variant	-	NC_000002.12:g.232771146C>T	TOPMed,gnomAD
rs1348552377	p.Trp75Ter	stop gained	-	NC_000002.12:g.232771138C>T	gnomAD
COSM1406258	p.Val77Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.232771133A>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu78Pro	missense variant	-	NC_000002.12:g.232771130A>G	NCI-TCGA
rs1362171485	p.Ala79Gly	missense variant	-	NC_000002.12:g.232771127G>C	TOPMed
rs1279038422	p.Ala79Thr	missense variant	-	NC_000002.12:g.232771128C>T	gnomAD
rs374810770	p.Glu80Lys	missense variant	-	NC_000002.12:g.232771125C>T	ESP
COSM3838853	p.Met81Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.232771120C>A	NCI-TCGA Cosmic
rs371256707	p.Met81Thr	missense variant	-	NC_000002.12:g.232771121A>G	ESP,ExAC,TOPMed,gnomAD
rs764509761	p.Asn82Ile	missense variant	-	NC_000002.12:g.232771118T>A	ExAC,gnomAD
rs763341185	p.Gly83Asp	missense variant	-	NC_000002.12:g.232771115C>T	ExAC,gnomAD
rs1313340677	p.Gly83Ser	missense variant	-	NC_000002.12:g.232771116C>T	gnomAD
COSM3798757	p.Asp84Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.232771113C>T	NCI-TCGA Cosmic
rs1487693818	p.His89Tyr	missense variant	-	NC_000002.12:g.232771098G>A	TOPMed
rs183766886	p.Asp90Gly	missense variant	-	NC_000002.12:g.232771094T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs183766886	p.Asp90Val	missense variant	-	NC_000002.12:g.232771094T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs907341776	p.Asp90Glu	missense variant	-	NC_000002.12:g.232771093A>C	TOPMed
COSM5735150	p.Asp90Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.232771095C>T	NCI-TCGA Cosmic
rs1179391592	p.Asp90Tyr	missense variant	-	NC_000002.12:g.232771095C>A	TOPMed
rs991734668	p.Ala91Thr	missense variant	-	NC_000002.12:g.232771092C>T	-
rs1177395186	p.Ala91Val	missense variant	-	NC_000002.12:g.232771091G>A	TOPMed
NCI-TCGA novel	p.Pro92HisPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.232771088G>-	NCI-TCGA
rs1377986601	p.Pro93Leu	missense variant	-	NC_000002.12:g.232771085G>A	TOPMed
rs1042298486	p.His96Gln	missense variant	-	NC_000002.12:g.232771075G>T	TOPMed
rs760027526	p.Ile98Val	missense variant	-	NC_000002.12:g.232771071T>C	ExAC,gnomAD
rs1165371214	p.Ile98Thr	missense variant	-	NC_000002.12:g.232771070A>G	TOPMed
rs760027526	p.Ile98Phe	missense variant	-	NC_000002.12:g.232771071T>A	ExAC,gnomAD
NCI-TCGA novel	p.Ile98ValPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.232771068_232771071AGAT>-	NCI-TCGA
rs1382097055	p.Val100Asp	missense variant	-	NC_000002.12:g.232771064A>T	TOPMed,gnomAD
rs1382097055	p.Val100Ala	missense variant	-	NC_000002.12:g.232771064A>G	TOPMed,gnomAD
rs1456196159	p.Tyr102His	missense variant	-	NC_000002.12:g.232771059A>G	TOPMed
rs776705101	p.Tyr102Cys	missense variant	-	NC_000002.12:g.232771058T>C	ExAC,TOPMed,gnomAD
rs1401218860	p.Leu114Pro	missense variant	-	NC_000002.12:g.232771022A>G	TOPMed
VAR_066488	p.Gln117Arg	Missense	Leber congenital amaurosis 16 (LCA16) [MIM:614186]	-	UniProt
rs786205550	p.Ile120Thr	missense variant	Leber congenital amaurosis 16 (lca16)	NC_000002.12:g.232771004A>G	gnomAD
rs946261593	p.Ile120Val	missense variant	-	NC_000002.12:g.232771005T>C	TOPMed,gnomAD
RCV000210435	p.Ile120Thr	missense variant	Leber congenital amaurosis 16 (LCA16)	NC_000002.12:g.232771004A>G	ClinVar
NCI-TCGA novel	p.Gly123Ser	missense variant	-	NC_000002.12:g.232770996C>T	NCI-TCGA
rs1181517529	p.Thr124Ile	missense variant	-	NC_000002.12:g.232770992G>A	gnomAD
rs1385052216	p.Ser128Gly	missense variant	-	NC_000002.12:g.232770981T>C	TOPMed
rs777940941	p.Cys131Tyr	missense variant	-	NC_000002.12:g.232770971C>T	ExAC,gnomAD
rs749097137	p.Ala136Thr	missense variant	-	NC_000002.12:g.232770957C>T	ExAC,TOPMed,gnomAD
rs779781039	p.Ala136Val	missense variant	-	NC_000002.12:g.232770956G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ala139Gly	missense variant	-	NC_000002.12:g.232770947G>C	NCI-TCGA
rs1283588724	p.Ile140Thr	missense variant	-	NC_000002.12:g.232770944A>G	gnomAD
rs1361858388	p.Leu144Pro	missense variant	-	NC_000002.12:g.232770932A>G	gnomAD
rs1366295731	p.Glu149Gly	missense variant	-	NC_000002.12:g.232770917T>C	gnomAD
rs1457904833	p.Ala150Thr	missense variant	-	NC_000002.12:g.232770915C>T	TOPMed
rs1197652096	p.Ala150Val	missense variant	-	NC_000002.12:g.232770914G>A	TOPMed
NCI-TCGA novel	p.Ile152Met	missense variant	-	NC_000002.12:g.232770907G>C	NCI-TCGA
RCV000515663	p.Thr153Ile	missense variant	Leber congenital amaurosis (LCA)	NC_000002.12:g.232770905G>A	ClinVar
rs863224884	p.Thr153Ile	missense variant	-	NC_000002.12:g.232770905G>A	-
NCI-TCGA novel	p.Ala155Asp	missense variant	-	NC_000002.12:g.232768810G>T	NCI-TCGA
rs727503972	p.Ala158Glu	missense variant	-	NC_000002.12:g.232768801G>T	ExAC,gnomAD
rs727503972	p.Ala158Val	missense variant	-	NC_000002.12:g.232768801G>A	ExAC,gnomAD
rs1346773854	p.Ala158Ser	missense variant	-	NC_000002.12:g.232768802C>A	gnomAD
rs564363265	p.Ile160Ser	missense variant	-	NC_000002.12:g.232768795A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs564363265	p.Ile160Thr	missense variant	-	NC_000002.12:g.232768795A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs564363265	p.Ile160Asn	missense variant	-	NC_000002.12:g.232768795A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs781248449	p.Ala161Asp	missense variant	-	NC_000002.12:g.232768792G>T	ExAC,gnomAD
rs757304681	p.Arg162Pro	missense variant	-	NC_000002.12:g.232768789C>G	ExAC,TOPMed,gnomAD
rs757304681	p.Arg162Gln	missense variant	-	NC_000002.12:g.232768789C>T	ExAC,TOPMed,gnomAD
rs757304681	p.Arg162Gln	missense variant	-	NC_000002.12:g.232768789C>T	UniProt,dbSNP
VAR_066489	p.Arg162Gln	missense variant	-	NC_000002.12:g.232768789C>T	UniProt
rs121918542	p.Arg162Trp	missense variant	-	NC_000002.12:g.232768790G>A	gnomAD
rs121918542	p.Arg162Trp	missense variant	Snowflake vitreoretinal degeneration (SVD)	NC_000002.12:g.232768790G>A	UniProt,dbSNP
VAR_043509	p.Arg162Trp	missense variant	Snowflake vitreoretinal degeneration (SVD)	NC_000002.12:g.232768790G>A	UniProt
RCV000006963	p.Arg162Trp	missense variant	Snowflake vitreoretinal degeneration (SVD)	NC_000002.12:g.232768790G>A	ClinVar
NCI-TCGA novel	p.Asn165LysPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.232768779_232768780insT	NCI-TCGA
RCV000023266	p.Arg166Ter	missense variant	Leber congenital amaurosis 16 (LCA16)	NC_000002.12:g.232768778G>A	ClinVar
rs387906858	p.Arg166Gly	missense variant	Leber congenital amaurosis 16 (lca16)	NC_000002.12:g.232768778G>C	gnomAD
rs387906858	p.Arg166Ter	stop gained	Leber congenital amaurosis 16 (lca16)	NC_000002.12:g.232768778G>A	gnomAD
COSM261508	p.Arg166Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.232768777C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser169GlnPheSerTerUnk	frameshift	-	NC_000002.12:g.232768769A>-	NCI-TCGA
rs1213413047	p.Ile170Val	missense variant	-	NC_000002.12:g.232768766T>C	TOPMed
rs752305262	p.Arg171His	missense variant	-	NC_000002.12:g.232768762C>T	ExAC,gnomAD
rs147221151	p.Arg171Cys	missense variant	-	NC_000002.12:g.232768763G>A	ESP,ExAC,TOPMed,gnomAD
rs147221151	p.Arg171Ser	missense variant	-	NC_000002.12:g.232768763G>T	ESP,ExAC,TOPMed,gnomAD
RCV000355444	p.Thr175Ile	missense variant	Leber congenital amaurosis (LCA)	NC_000002.12:g.232768750G>A	ClinVar
rs1801251	p.Thr175Ile	missense variant	-	NC_000002.12:g.232768750G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs753938104	p.Val177Leu	missense variant	-	NC_000002.12:g.232768745C>G	gnomAD
rs753938104	p.Val177Ile	missense variant	-	NC_000002.12:g.232768745C>T	gnomAD
rs1225843613	p.Val178Ala	missense variant	-	NC_000002.12:g.232768741A>G	gnomAD
rs1322060507	p.Ala179Val	missense variant	-	NC_000002.12:g.232768738G>A	gnomAD
rs1280781998	p.Met181Val	missense variant	-	NC_000002.12:g.232768733T>C	gnomAD
rs761238464	p.Met181Thr	missense variant	-	NC_000002.12:g.232768732A>G	ExAC,gnomAD
rs773211176	p.Asp182His	missense variant	-	NC_000002.12:g.232768730C>G	ExAC,gnomAD
RCV000311837	p.Gly183Asp	missense variant	Leber congenital amaurosis (LCA)	NC_000002.12:g.232768726C>T	ClinVar
rs886055797	p.Gly183Asp	missense variant	-	NC_000002.12:g.232768726C>T	-
rs1299470079	p.Pro185Leu	missense variant	-	NC_000002.12:g.232768720G>A	gnomAD
rs767510334	p.Asn186Thr	missense variant	-	NC_000002.12:g.232768717T>G	ExAC,gnomAD
rs762050035	p.Leu187Val	missense variant	-	NC_000002.12:g.232768715G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu187Ile	missense variant	-	NC_000002.12:g.232768715G>T	NCI-TCGA
rs774472122	p.Ile188Thr	missense variant	-	NC_000002.12:g.232768711A>G	ExAC,gnomAD
NCI-TCGA novel	p.Ile188Met	missense variant	-	NC_000002.12:g.232768710G>C	NCI-TCGA
NCI-TCGA novel	p.Gln190His	missense variant	-	NC_000002.12:g.232768704T>A	NCI-TCGA
rs199606834	p.Pro196Ala	missense variant	-	NC_000002.12:g.232768688G>C	1000Genomes,ExAC,gnomAD
rs1485682815	p.Ser197Thr	missense variant	-	NC_000002.12:g.232768684C>G	TOPMed
rs555313069	p.Pro198Thr	missense variant	-	NC_000002.12:g.232768682G>T	1000Genomes
rs745631910	p.Ser201Gly	missense variant	-	NC_000002.12:g.232768673T>C	ExAC
NCI-TCGA novel	p.Val202Asp	missense variant	-	NC_000002.12:g.232768669A>T	NCI-TCGA
rs143063579	p.Arg203Trp	missense variant	-	NC_000002.12:g.232768667G>A	ESP,ExAC,TOPMed,gnomAD
rs867979727	p.Arg203Gln	missense variant	-	NC_000002.12:g.232768666C>T	TOPMed
rs368709250	p.Val207Ala	missense variant	-	NC_000002.12:g.232768654A>G	ESP,TOPMed,gnomAD
rs770984701	p.Leu208Phe	missense variant	-	NC_000002.12:g.232768652G>A	ExAC,gnomAD
rs1406003973	p.Tyr209Ter	stop gained	-	NC_000002.12:g.232768647A>T	gnomAD
rs1410267329	p.Tyr209His	missense variant	-	NC_000002.12:g.232768649A>G	gnomAD
rs746945081	p.Gln210Ter	stop gained	-	NC_000002.12:g.232768646G>A	ExAC,gnomAD
rs1420183664	p.Gln210Arg	missense variant	-	NC_000002.12:g.232768645T>C	gnomAD
rs727503971	p.Glu211Gly	missense variant	-	NC_000002.12:g.232768642T>C	-
RCV000153388	p.Glu211Gly	missense variant	-	NC_000002.12:g.232768642T>C	ClinVar
rs940166965	p.Gly215Ala	missense variant	-	NC_000002.12:g.232768630C>G	TOPMed,gnomAD
rs757867220	p.Lys216Asn	missense variant	-	NC_000002.12:g.232768626T>A	ExAC,gnomAD
rs139594245	p.Tyr218His	missense variant	-	NC_000002.12:g.232768622A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs778399462	p.Tyr218Cys	missense variant	-	NC_000002.12:g.232768621T>C	ExAC,gnomAD
rs1475176373	p.Gln219Ter	stop gained	-	NC_000002.12:g.232768619G>A	gnomAD
rs1345380687	p.Gln219Pro	missense variant	-	NC_000002.12:g.232768618T>G	TOPMed
rs1316922533	p.Thr220Ile	missense variant	-	NC_000002.12:g.232768615G>A	gnomAD
rs1375760095	p.Gly228Asp	missense variant	-	NC_000002.12:g.232768591C>T	gnomAD
RCV000351530	p.Ser230Asn	missense variant	Leber congenital amaurosis (LCA)	NC_000002.12:g.232768585C>T	ClinVar
rs146797648	p.Ser230Asn	missense variant	-	NC_000002.12:g.232768585C>T	ESP,ExAC,TOPMed,gnomAD
rs146797648	p.Ser230Ile	missense variant	-	NC_000002.12:g.232768585C>A	ESP,ExAC,TOPMed,gnomAD
rs750953704	p.Ser231Phe	missense variant	-	NC_000002.12:g.232768582G>A	ExAC,gnomAD
rs1372503037	p.Asp232Asn	missense variant	-	NC_000002.12:g.232768580C>T	TOPMed
rs761770948	p.Glu233Lys	missense variant	-	NC_000002.12:g.232768577C>T	ExAC,gnomAD
rs761770948	p.Glu233Gln	missense variant	-	NC_000002.12:g.232768577C>G	ExAC,gnomAD
NCI-TCGA novel	p.Cys234AspPheSerTerUnk	frameshift	-	NC_000002.12:g.232768575_232768576insCC	NCI-TCGA
rs1346994563	p.Phe236Tyr	missense variant	-	NC_000002.12:g.232768567A>T	gnomAD
NCI-TCGA novel	p.Phe236Ser	missense variant	-	NC_000002.12:g.232768567A>G	NCI-TCGA
NCI-TCGA novel	p.Phe236Ile	missense variant	-	NC_000002.12:g.232768568A>T	NCI-TCGA
rs982027064	p.Phe237Leu	missense variant	-	NC_000002.12:g.232768563G>T	TOPMed
rs764204353	p.Ile238Phe	missense variant	-	NC_000002.12:g.232768562T>A	ExAC,gnomAD
rs143607153	p.Leu241Gln	missense variant	Leber congenital amaurosis 16 (lca16)	NC_000002.12:g.232768552A>T	ESP,ExAC,TOPMed,gnomAD
rs143607153	p.Leu241Pro	missense variant	Leber congenital amaurosis 16 (lca16)	NC_000002.12:g.232768552A>G	ESP,ExAC,TOPMed,gnomAD
rs143607153	p.Leu241Pro	missense variant	Leber congenital amaurosis 16 (LCA16)	NC_000002.12:g.232768552A>G	UniProt,dbSNP
VAR_066490	p.Leu241Pro	missense variant	Leber congenital amaurosis 16 (LCA16)	NC_000002.12:g.232768552A>G	UniProt
RCV000023267	p.Leu241Pro	missense variant	Leber congenital amaurosis 16 (LCA16)	NC_000002.12:g.232768552A>G	ClinVar
rs776500156	p.Thr242Met	missense variant	-	NC_000002.12:g.232768549G>A	ExAC,TOPMed,gnomAD
rs770861822	p.Tyr244His	missense variant	-	NC_000002.12:g.232768544A>G	ExAC,TOPMed,gnomAD
rs1187574332	p.Tyr244Phe	missense variant	-	NC_000002.12:g.232768543T>A	gnomAD
rs1316172407	p.Ile247Leu	missense variant	-	NC_000002.12:g.232768535T>G	TOPMed
rs201555149	p.Pro249Ser	missense variant	-	NC_000002.12:g.232768529G>A	TOPMed,gnomAD
rs1213086984	p.Leu256Pro	missense variant	-	NC_000002.12:g.232768507A>G	gnomAD
rs760640227	p.Leu257Phe	missense variant	-	NC_000002.12:g.232768505G>A	ExAC,gnomAD
rs1051985295	p.Gln258His	missense variant	-	NC_000002.12:g.232768500C>G	TOPMed,gnomAD
rs371946844	p.Glu260Lys	missense variant	-	NC_000002.12:g.232768496C>T	ESP,ExAC,TOPMed,gnomAD
rs772086040	p.Asn261His	missense variant	-	NC_000002.12:g.232768493T>G	ExAC,TOPMed,gnomAD
rs773815103	p.Pro262Leu	missense variant	-	NC_000002.12:g.232768489G>A	TOPMed
rs1407691972	p.Phe265Ser	missense variant	-	NC_000002.12:g.232768480A>G	TOPMed
rs368221882	p.Val268Ala	missense variant	-	NC_000002.12:g.232768471A>G	ESP,ExAC,TOPMed,gnomAD
rs929557852	p.Val268Ile	missense variant	-	NC_000002.12:g.232768472C>T	TOPMed
rs748955297	p.Phe270Ser	missense variant	-	NC_000002.12:g.232768465A>G	ExAC,gnomAD
rs768232798	p.Phe270Leu	missense variant	-	NC_000002.12:g.232768466A>G	ExAC,gnomAD
rs1165633120	p.Met274Ile	missense variant	-	NC_000002.12:g.232768452C>T	gnomAD
rs375157738	p.Met274Thr	missense variant	-	NC_000002.12:g.232768453A>G	ESP,ExAC,TOPMed,gnomAD
rs374411396	p.Glu276Ala	missense variant	-	NC_000002.12:g.232768447T>G	1000Genomes,ExAC,gnomAD
rs1368634828	p.Thr278Ile	missense variant	-	NC_000002.12:g.232768441G>A	TOPMed
rs370613677	p.Glu280Lys	missense variant	-	NC_000002.12:g.232768436C>T	ESP,ExAC,TOPMed,gnomAD
rs555860663	p.Cys282Tyr	missense variant	-	NC_000002.12:g.232768429C>T	1000Genomes,ExAC,gnomAD
COSM3972086	p.Cys282Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.232768430A>G	NCI-TCGA Cosmic
rs17853727	p.Pro290Gln	missense variant	-	NC_000002.12:g.232768405G>T	ExAC,TOPMed,gnomAD
rs17853727	p.Pro290Gln	missense variant	-	NC_000002.12:g.232768405G>T	UniProt,dbSNP
VAR_043510	p.Pro290Gln	missense variant	-	NC_000002.12:g.232768405G>T	UniProt
rs17853727	p.Pro290Leu	missense variant	-	NC_000002.12:g.232768405G>A	ExAC,TOPMed,gnomAD
rs1334094242	p.Pro290Ala	missense variant	-	NC_000002.12:g.232768406G>C	gnomAD
rs1335732996	p.Met294Thr	missense variant	-	NC_000002.12:g.232768393A>G	TOPMed
rs1356847109	p.His296Gln	missense variant	-	NC_000002.12:g.232768386A>T	gnomAD
rs763207758	p.His296Tyr	missense variant	-	NC_000002.12:g.232768388G>A	ExAC,gnomAD
rs752987924	p.Cys298Arg	missense variant	-	NC_000002.12:g.232768382A>G	ExAC,gnomAD
rs760515492	p.Ala300Val	missense variant	-	NC_000002.12:g.232768375G>A	ExAC,gnomAD
rs377146231	p.Ala300Pro	missense variant	-	NC_000002.12:g.232768376C>G	ESP,TOPMed
rs926688430	p.Ser301Tyr	missense variant	-	NC_000002.12:g.232768372G>T	TOPMed,gnomAD
rs773108284	p.Ser301Thr	missense variant	-	NC_000002.12:g.232768373A>T	ExAC,TOPMed,gnomAD
rs954056272	p.Leu302Pro	missense variant	-	NC_000002.12:g.232768369A>G	TOPMed,gnomAD
rs1183967062	p.Thr304Ile	missense variant	-	NC_000002.12:g.232768363G>A	TOPMed
rs370182405	p.Arg305Gln	missense variant	-	NC_000002.12:g.232768360C>T	ESP,ExAC,TOPMed,gnomAD
rs1168851604	p.Gly306Val	missense variant	-	NC_000002.12:g.232768357C>A	gnomAD
rs17857137	p.Gly309Cys	missense variant	-	NC_000002.12:g.232768349C>A	UniProt,dbSNP
VAR_043511	p.Gly309Cys	missense variant	-	NC_000002.12:g.232768349C>A	UniProt
rs17857137	p.Gly309Cys	missense variant	-	NC_000002.12:g.232768349C>A	-
rs377736321	p.Glu310Asp	missense variant	-	NC_000002.12:g.232768344T>G	ESP,ExAC,TOPMed,gnomAD
rs1371717577	p.Glu310Ter	stop gained	-	NC_000002.12:g.232768346C>A	gnomAD
rs1481066504	p.Gln312His	missense variant	-	NC_000002.12:g.232768338T>A	TOPMed,gnomAD
NCI-TCGA novel	p.Gln312Glu	missense variant	-	NC_000002.12:g.232768340G>C	NCI-TCGA
rs956131677	p.Glu316Asp	missense variant	-	NC_000002.12:g.232768326C>G	TOPMed
rs1429317019	p.Glu316Lys	missense variant	-	NC_000002.12:g.232768328C>T	gnomAD
rs1201013667	p.Phe318Ser	missense variant	-	NC_000002.12:g.232768321A>G	gnomAD
rs748902194	p.Thr321Ala	missense variant	-	NC_000002.12:g.232768313T>C	ExAC,TOPMed,gnomAD
rs1196144448	p.Pro323Ala	missense variant	-	NC_000002.12:g.232768307G>C	gnomAD
rs746208996	p.Pro326Ser	missense variant	-	NC_000002.12:g.232768298G>A	ExAC,gnomAD
rs139746604	p.Thr327Ile	missense variant	-	NC_000002.12:g.232768294G>A	ESP
NCI-TCGA novel	p.Pro328His	missense variant	-	NC_000002.12:g.232768291G>T	NCI-TCGA
rs1217887322	p.Leu329Val	missense variant	-	NC_000002.12:g.232768289G>C	gnomAD
COSM4933062	p.Leu329Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.232768288A>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys332Glu	missense variant	-	NC_000002.12:g.232768280T>C	NCI-TCGA
rs781665941	p.Ser333Asn	missense variant	-	NC_000002.12:g.232768276C>T	ExAC,gnomAD
rs757634383	p.Pro334Ser	missense variant	-	NC_000002.12:g.232768274G>A	ExAC,gnomAD
rs777663064	p.Arg336Lys	missense variant	-	NC_000002.12:g.232768267C>T	ExAC,gnomAD
rs1329723921	p.Arg336Ser	missense variant	-	NC_000002.12:g.232768266C>A	gnomAD
rs1232879667	p.Asp340Val	missense variant	-	NC_000002.12:g.232768255T>A	TOPMed
rs765534142	p.Ile341Val	missense variant	-	NC_000002.12:g.232768253T>C	ExAC,gnomAD
NCI-TCGA novel	p.His342Tyr	missense variant	-	NC_000002.12:g.232768250G>A	NCI-TCGA
rs545594184	p.Ile348Thr	missense variant	-	NC_000002.12:g.232768231A>G	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp349Tyr	missense variant	-	NC_000002.12:g.232768229C>A	NCI-TCGA
rs774380473	p.Gln352His	missense variant	-	NC_000002.12:g.232768218C>G	ExAC,gnomAD
rs762432264	p.Glu355Asp	missense variant	-	NC_000002.12:g.232768209T>G	ExAC,gnomAD
rs764061215	p.Glu355Gly	missense variant	-	NC_000002.12:g.232768210T>C	ExAC,gnomAD
rs535054686	p.Thr359Arg	missense variant	-	NC_000002.12:g.232768198G>C	1000Genomes,ExAC,gnomAD
rs1201705876	p.Ter361Gln	stop lost	-	NC_000002.12:g.232768193A>G	gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0007785	Cerebral Infarction	disease	BEFREE
C0014065	Congenital cerebral hernia	disease	HPO
C0014544	Epilepsy	disease	HPO
C0022578	Keratoconus	disease	HPO
C0026827	Muscle hypotonia	phenotype	HPO
C0028077	Night Blindness	disease	HPO
C0028738	Nystagmus	disease	HPO
C0036572	Seizures	phenotype	HPO
C0042798	Low Vision	disease	HPO
C0085636	Photophobia	phenotype	HPO
C0086543	Cataract	disease	BEFREE;HPO
C0155366	Vitreous degeneration	disease	BEFREE
C0234632	Reduced visual acuity	phenotype	HPO
C0339527	Leber Congenital Amaurosis	disease	BEFREE;CLINVAR;ORPHANET
C0344290	Vitreoretinal degeneration	disease	BEFREE;HPO
C0375206	Hemiplegia/hemiparesis	disease	HPO
C0476397	Electroretinogram abnormal	phenotype	HPO
C0554970	Pallor of optic disc	phenotype	HPO
C0917798	Cerebral Ischemia	disease	BEFREE
C0948008	Ischemic stroke	disease	BEFREE
C1301509	Severe visual impairment	disease	HPO
C1510497	Lens Opacities	phenotype	HPO
C1611743	Familial (FPAH)	disease	BEFREE
C1720508	Retinal pigment epithelial abnormality	phenotype	HPO
C1837249	Malformations of Cortical Development, Group II	disease	HPO
C1855676	Aplasia/Hypoplasia of the cerebellar vermis	phenotype	HPO
C1860405	Snowflake vitreoretinal degeneration	disease	BEFREE;CLINVAR;CTD_human;ORPHANET;UNIPROT
C1862475	Abnormality of retinal pigmentation	phenotype	HPO
C1956346	Coronary Artery Disease	disease	GWASCAT
C1998028	Photoreceptor degeneration	disease	BEFREE
C2931258	Amaurosis congenita of Leber, type 1	disease	BEFREE
C3280062	LEBER CONGENITAL AMAUROSIS 16	disease	BEFREE;CLINVAR;CTD_human;UNIPROT
C3280770	Cerebellar vermis aplasia or hypoplasia	phenotype	HPO
C3665347	Visual Impairment	phenotype	HPO
C3808249	Abnormality of the optic disc	phenotype	HPO
C4020885	Difficulties with night vision	phenotype	HPO
C4020887	Photodysphoria	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005242	inward rectifier potassium channel activity	IBA
GO:0005242	inward rectifier potassium channel activity	NAS

GO:Biological Process

GO ID	GO Term	Evidence
GO:0006813	potassium ion transport	NAS
GO:0034765	regulation of ion transmembrane transport	IBA
GO:1990573	potassium ion import across plasma membrane	IBA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0016021	integral component of membrane	IEA

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
C029790	2,2',3',4,4',5-hexachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of KCNJ13 mRNA	25510870
C111118	2',3,3',4',5-pentachloro-4-hydroxybiphenyl	2',3,3',4',5-pentachloro-4-hydroxybiphenyl results in decreased expression of KCNJ13 mRNA	19114083
C081766	2,4,4'-trichlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of KCNJ13 mRNA	25510870
C014024	2,4,5,2',4',5'-hexachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of KCNJ13 mRNA	25510870
C009828	2,4,5,2',5'-pentachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of KCNJ13 mRNA	25510870
C009407	2,5,2',5'-tetrachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of KCNJ13 mRNA	25510870
C006551	2-amino-2-methyl-1-propanol	2-amino-2-methyl-1-propanol results in decreased expression of KCNJ13 mRNA	25088246
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with belinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of KCNJ13 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 entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of KCNJ13 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of KCNJ13 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of KCNJ13 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of KCNJ13 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of KCNJ13 mRNA	27188386
D000082	Acetaminophen	Acetaminophen results in decreased expression of KCNJ13 mRNA	26690555
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of KCNJ13 mRNA	16483693
C547126	AZM551248	AZM551248 results in decreased expression of KCNJ13 mRNA	22323515
C487081	belinostat	belinostat results in decreased expression of KCNJ13 mRNA	26272509
C487081	belinostat	[NOG protein co-treated with belinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of KCNJ13 mRNA	27188386
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of KCNJ13 mRNA	27195522
C006780	bisphenol A	bisphenol A affects the expression of KCNJ13 mRNA	21786754
C006780	bisphenol A	bisphenol A results in decreased expression of KCNJ13 mRNA	25181051; 30816183;
D003471	Cuprizone	Cuprizone results in increased expression of KCNJ13 mRNA	26577399
D000077209	Decitabine	Decitabine affects the expression of KCNJ13 mRNA	17145863
D003907	Dexamethasone	Dexamethasone inhibits the reaction [RX3 gene mutant form affects the expression of KCNJ13 mRNA]	27941970
C516138	dorsomorphin	[NOG protein co-treated with belinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of KCNJ13 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of KCNJ13 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of KCNJ13 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of KCNJ13 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of KCNJ13 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of KCNJ13 mRNA	27188386
D004317	Doxorubicin	Doxorubicin results in decreased expression of KCNJ13 mRNA	16404146
C118739	entinostat	entinostat results in decreased expression of KCNJ13 mRNA	26272509
C118739	entinostat	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of KCNJ13 mRNA	27188386
D005839	Gentamicins	Gentamicins results in decreased expression of KCNJ13 mRNA	22061828
C004312	glycidol	glycidol results in increased expression of KCNJ13 mRNA	24395379
D019344	Lactic Acid	Lactic Acid results in increased expression of KCNJ13 mRNA	30851411
C004925	methylmercuric chloride	methylmercuric chloride results in decreased expression of KCNJ13 mRNA	28001369
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in decreased expression of KCNJ13 mRNA	25554681
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in decreased expression of KCNJ13 mRNA	25554681
C572573	N-nitroso-tris-chloroethylurea	[N-nitroso-tris-chloroethylurea co-treated with Pioglitazone] results in decreased expression of KCNJ13 mRNA	27935865
D010100	Oxygen	[NFE2L2 protein affects the susceptibility to Oxygen] which affects the expression of KCNJ13 mRNA	30529165
D000077767	Panobinostat	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of KCNJ13 mRNA	27188386
D000077767	Panobinostat	Panobinostat results in decreased expression of KCNJ13 mRNA	26272509
C410127	PCB 180	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of KCNJ13 mRNA	25510870
D010416	Pentachlorophenol	Pentachlorophenol results in increased expression of KCNJ13 mRNA	27181905
D010662	Phenylmercuric Acetate	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of KCNJ13 mRNA	27188386
D000077205	Pioglitazone	[N-nitroso-tris-chloroethylurea co-treated with Pioglitazone] results in decreased expression of KCNJ13 mRNA	27935865
C006253	pirinixic acid	pirinixic acid results in increased expression of KCNJ13 mRNA	12832660
D011374	Progesterone	Progesterone results in decreased expression of KCNJ13 mRNA	21770760
D012822	Silicon Dioxide	Silicon Dioxide analog results in increased expression of KCNJ13 mRNA	25895662
D018038	Sodium Selenite	Sodium Selenite results in decreased expression of KCNJ13 mRNA	18175754
D053260	Soot	Soot results in decreased expression of KCNJ13 mRNA	26551751
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of KCNJ13 mRNA	21354282
C011126	tetraiodothyroacetic acid	tetraiodothyroacetic acid results in increased expression of KCNJ13 mRNA	29458080
C009495	titanium dioxide	titanium dioxide results in increased expression of KCNJ13 mRNA	30012374
D014212	Tretinoin	Tretinoin results in decreased expression of KCNJ13 mRNA	21934132
C012589	trichostatin A	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of KCNJ13 mRNA	27188386
C012589	trichostatin A	trichostatin A results in decreased expression of KCNJ13 mRNA	24935251; 26272509;
D014635	Valproic Acid	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of KCNJ13 mRNA	27188386
D014635	Valproic Acid	Valproic Acid affects the expression of KCNJ13 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in decreased expression of KCNJ13 mRNA	23179753; 24383497; 26272509; 28001369;

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0025	Alternative splicing
KW-0898	Cataract
KW-0225	Disease mutation
KW-0407	Ion channel
KW-0406	Ion transport
KW-0901	Leber congenital amaurosis
KW-0472	Membrane
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-0630	Potassium
KW-0633	Potassium transport
KW-1185	Reference proteome
KW-0812	Transmembrane
KW-1133	Transmembrane helix
KW-0813	Transport
KW-0851	Voltage-gated channel

Interpro

InterPro ID	InterPro Term
IPR014756	Ig_E-set
IPR041647	IRK_C
IPR016449	K_chnl_inward-rec_Kir
IPR013518	K_chnl_inward-rec_Kir_cyto
IPR008062	KCNJ13
IPR040445	Kir_TM

PROSITE

PROSITE ID	PROSITE Term

Pfam

Pfam ID	Pfam Term
PF01007	IRK
PF17655	IRK_C

Gene: KCNJ13

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

There is no related protein structure for this gene.

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-miRNA interaction