Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	3769
Gene name	Potassium inwardly rectifying channel subfamily J member 13
Gene symbol	KCNJ13
Synonyms (NCBI Gene)	KIR1.4KIR7.1LCA16SVD
Chromosome	2
Chromosome location	2q37.1
Summary	This gene encodes a member of the inwardly rectifying potassium channel family of proteins. Members of this family form ion channel pores that allow potassium ions to pass into a cell. The encoded protein belongs to a subfamily of low signal channel condu

Show/Hide all (95)

miRTarBase ID	miRNA	Experiments	Reference
MIRT628071	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT628070	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT628069	hsa-miR-605-5p	HITS-CLIP	23824327
MIRT628068	hsa-miR-4267	HITS-CLIP	23824327
MIRT628067	hsa-miR-302a-5p	HITS-CLIP	23824327
MIRT628066	hsa-miR-4635	HITS-CLIP	23824327
MIRT628064	hsa-miR-7977	HITS-CLIP	23824327
MIRT628071	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT628070	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT628069	hsa-miR-605-5p	HITS-CLIP	23824327
MIRT628068	hsa-miR-4267	HITS-CLIP	23824327
MIRT628067	hsa-miR-302a-5p	HITS-CLIP	23824327
MIRT628066	hsa-miR-4635	HITS-CLIP	23824327
MIRT628064	hsa-miR-7977	HITS-CLIP	23824327
MIRT628071	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT628070	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT628069	hsa-miR-605-5p	HITS-CLIP	23824327
MIRT628068	hsa-miR-4267	HITS-CLIP	23824327
MIRT628067	hsa-miR-302a-5p	HITS-CLIP	23824327
MIRT628066	hsa-miR-4635	HITS-CLIP	23824327
MIRT628065	hsa-miR-431-5p	HITS-CLIP	23824327
MIRT628064	hsa-miR-7977	HITS-CLIP	23824327
MIRT628071	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT628070	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT628069	hsa-miR-605-5p	HITS-CLIP	23824327
MIRT628068	hsa-miR-4267	HITS-CLIP	23824327
MIRT628067	hsa-miR-302a-5p	HITS-CLIP	23824327
MIRT628066	hsa-miR-4635	HITS-CLIP	23824327
MIRT628064	hsa-miR-7977	HITS-CLIP	23824327
MIRT628071	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT628070	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT628069	hsa-miR-605-5p	HITS-CLIP	23824327
MIRT628068	hsa-miR-4267	HITS-CLIP	23824327
MIRT628067	hsa-miR-302a-5p	HITS-CLIP	23824327
MIRT628066	hsa-miR-4635	HITS-CLIP	23824327
MIRT628064	hsa-miR-7977	HITS-CLIP	23824327
MIRT628071	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT628070	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT628069	hsa-miR-605-5p	HITS-CLIP	23824327
MIRT628068	hsa-miR-4267	HITS-CLIP	23824327
MIRT628067	hsa-miR-302a-5p	HITS-CLIP	23824327
MIRT628066	hsa-miR-4635	HITS-CLIP	23824327
MIRT628065	hsa-miR-431-5p	HITS-CLIP	23824327
MIRT628064	hsa-miR-7977	HITS-CLIP	23824327
MIRT1081380	hsa-miR-1260	CLIP-seq
MIRT1081381	hsa-miR-1260b	CLIP-seq
MIRT1081382	hsa-miR-142-3p	CLIP-seq
MIRT1081383	hsa-miR-188-3p	CLIP-seq
MIRT1081384	hsa-miR-3148	CLIP-seq
MIRT1081385	hsa-miR-3156-3p	CLIP-seq
MIRT1081386	hsa-miR-323-3p	CLIP-seq
MIRT1081387	hsa-miR-371-3p	CLIP-seq
MIRT1081388	hsa-miR-371b-3p	CLIP-seq
MIRT1081389	hsa-miR-374c	CLIP-seq
MIRT1081390	hsa-miR-4446-5p	CLIP-seq
MIRT1081391	hsa-miR-4455	CLIP-seq
MIRT1081392	hsa-miR-4496	CLIP-seq
MIRT1081393	hsa-miR-4505	CLIP-seq
MIRT1081394	hsa-miR-515-3p	CLIP-seq
MIRT1081395	hsa-miR-519e	CLIP-seq
MIRT1081396	hsa-miR-579	CLIP-seq
MIRT1081397	hsa-miR-605	CLIP-seq
MIRT1081398	hsa-miR-609	CLIP-seq
MIRT1081399	hsa-miR-651	CLIP-seq
MIRT1081400	hsa-miR-655	CLIP-seq
MIRT1081401	hsa-miR-105	CLIP-seq
MIRT1081402	hsa-miR-1225-3p	CLIP-seq
MIRT1081403	hsa-miR-1233	CLIP-seq
MIRT1081404	hsa-miR-134	CLIP-seq
MIRT1081405	hsa-miR-3118	CLIP-seq
MIRT1081406	hsa-miR-3140-3p	CLIP-seq
MIRT1081407	hsa-miR-3164	CLIP-seq
MIRT1081408	hsa-miR-3173-5p	CLIP-seq
MIRT1081409	hsa-miR-3671	CLIP-seq
MIRT1081410	hsa-miR-4464	CLIP-seq
MIRT1081411	hsa-miR-4501	CLIP-seq
MIRT1081412	hsa-miR-4663	CLIP-seq
MIRT1081413	hsa-miR-4748	CLIP-seq
MIRT1081414	hsa-miR-607	CLIP-seq
MIRT1556592	hsa-miR-4719	CLIP-seq
MIRT1081401	hsa-miR-105	CLIP-seq
MIRT1081406	hsa-miR-3140-3p	CLIP-seq
MIRT1081409	hsa-miR-3671	CLIP-seq
MIRT1081410	hsa-miR-4464	CLIP-seq
MIRT1081413	hsa-miR-4748	CLIP-seq
MIRT1081414	hsa-miR-607	CLIP-seq
MIRT1081401	hsa-miR-105	CLIP-seq
MIRT1081406	hsa-miR-3140-3p	CLIP-seq
MIRT1081409	hsa-miR-3671	CLIP-seq
MIRT1081410	hsa-miR-4464	CLIP-seq
MIRT1081413	hsa-miR-4748	CLIP-seq
MIRT1081414	hsa-miR-607	CLIP-seq
MIRT2555270	hsa-miR-4659a-3p	CLIP-seq
MIRT2555271	hsa-miR-4659b-3p	CLIP-seq
MIRT2555272	hsa-miR-4778-3p	CLIP-seq

Show/Hide all (13)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005242	Function	Inward rectifier potassium channel activity	IBA
GO:0005242	Function	Inward rectifier potassium channel activity	IEA
GO:0005242	Function	Inward rectifier potassium channel activity	NAS	9738472
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006813	Process	Potassium ion transport	IEA
GO:0006813	Process	Potassium ion transport	NAS	9738472
GO:0016020	Component	Membrane	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0034765	Process	Regulation of monoatomic ion transmembrane transport	IBA
GO:1990573	Process	Potassium ion import across plasma membrane	IBA

MIM	HGNC	e!Ensembl
603208	6259	ENSG00000115474

O60928

Protein name

Inward rectifier potassium channel 13 (Inward rectifier K(+) channel Kir7.1) (Potassium channel, inwardly rectifying subfamily J member 13)

Protein function

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 potass

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01007	IRK	21 → 163	Inward rectifier potassium channel transmembrane domain	Domain
PF17655	IRK_C	170 → 338	Inward rectifier potassium channel C-terminal domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Predominantly expressed in small intestine. Expression is also detected in stomach, kidney, and all central nervous system regions tested with the exception of spinal cord. {ECO:0000269|PubMed:9738472}.

Sequence

MDSSNCKVIAPLLSQRYRRMVTKDGHSTLQMDGAQRGLAYLRDAWGILMDMRWRWMMLVF
SASFVVHWLVFAVLWYVLAEMNGDLELDHDAPPENHTICVKYITSFTAAFSFSLETQLTI
GYGTMFPSGDCPSAIALLAIQMLLGLMLEAFITGAFVAKIARPKNRAFSIRFTDTAVVAH
MDGKPNLIFQVANTRPSPLTSVRVSAVLYQERENGKLYQTSVDFHLDGISSDECPFFIFP
LTYYHSITPSSPLATLLQHENPSHFELVVFLSAMQEGTGEICQRRTSYLPSEIMLHHCFA
SLLTRGSKGEYQIKMENFDKTVPEFPTPLVSKSPNRTDLDIHINGQSIDNFQISETGLTE

Sequence length

360

Interactions

View interactions

	KEGG
	Protein digestion and absorption

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Leber congenital amaurosis	Likely pathogenic; Pathogenic	rs863224884	RCV000515663
Leber congenital amaurosis 16	Pathogenic; Likely pathogenic	rs786205550, rs863224884, rs869320631, rs387906858, rs143607153, rs1361858388, rs1475176373, rs1699091441, rs1699223440	RCV000210435 RCV000197888 RCV000210439 RCV000023266 RCV000023267 RCV001269022 RCV001257099 RCV001257098 RCV001257100
Retinitis pigmentosa	Likely pathogenic	rs1361858388	RCV004813155
Snowflake vitreoretinal degeneration	Likely pathogenic; Pathogenic	rs121918542	RCV000006963

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Retinal dystrophy	Uncertain significance	rs564363265, rs545594184, rs1401218860, rs143726189, rs757304681	RCV004815335 RCV004815415 RCV001073920 RCV001073980 RCV004813798

Show/Hide Text Mining Associations (17)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Amaurosis congenita of Leber type 1	Associate	30686507, 40294858
Atrophy	Associate	40294858
Blindness	Associate	30686507
Cataract	Associate	35477418
Channelopathies	Associate	30686507
Coronary Artery Disease	Associate	28209224
Intervertebral Disc Degeneration	Associate	35477418
Leber Congenital Amaurosis	Associate	30257863, 30686507, 35477418
Macular Degeneration	Associate	35477418
Nerve Degeneration	Associate	29058194
Night Blindness	Associate	40294858
Patterned dystrophy of retinal pigment epithelium	Associate	36413373
Retinal Degeneration	Associate	33219695
Retinal Detachment	Associate	35477418
Retinal Diseases	Associate	30257863, 40294858
Retinitis Pigmentosa	Associate	33219695
Snowflake vitreoretinal degeneration	Associate	33219695, 35477418

KCNJ13 (potassium inwardly rectifying channel subfamily J member 13)