KCNJ13 (potassium inwardly rectifying channel subfamily J member 13)

Gene

• Entrez ID: 3769
• Gene name: Potassium inwardly rectifying channel subfamily J member 13
• Gene symbol: KCNJ13
• Synonyms (NCBI Gene): KIR1.4, KIR7.1, LCA16, SVD
• 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

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 603208
• HGNC: 6259
• e!Ensembl: ENSG00000115474

Protein

• UniProt ID: 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

Pathways

KEGG:

Protein digestion and absorption

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Leber congenital amaurosis	Likely pathogenic; Pathogenic	rs863224884	RCV000515663	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa	Likely pathogenic	rs1361858388	RCV004813155	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Snowflake vitreoretinal degeneration	Likely pathogenic; Pathogenic	rs121918542	RCV000006963	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MARSHALL SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal dystrophy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITREORETINAL DEGENERATION, SNOWFLAKE TYPE	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Amaurosis congenita of Leber type 1	Leber congenital amaurosis	Pubtator	30686507, 40294858	Associate	★☆☆☆☆ Found in Text Mining only
Amaurosis congenita of Leber, type 1	Leber congenital amaurosis	BEFREE	25666713, 25921210, 30846767, 31647904		★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	40294858	Associate	★☆☆☆☆ Found in Text Mining only
AURAL ATRESIA, CONGENITAL	Aural Atresia, Congenital	BEFREE	28476760, 28870591		★☆☆☆☆ Found in Text Mining only
Blindness	Blindness	Pubtator	30686507	Associate	★☆☆☆☆ Found in Text Mining only
Cardioembolic stroke	Cardioembolic Stroke	BEFREE	15178823		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	25475713		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	35477418	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Small Vessel Diseases	Cerebral Microangiopathy	BEFREE	29934138, 30618052		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	15178823, 26707826, 30814324, 31480986		★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Congenital cerebral hernia	Congenital Cerebral Hernia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	21840356, 28209224		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	Pubtator	28209224	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	GWASCAT_DG	29212778		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemiplegia/hemiparesis	Hemiplegia/hemiparesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	21840356, 31151881		★☆☆☆☆ Found in Text Mining only
Hypoxic-Ischemic Encephalopathy	Hypoxic-Ischemic Encephalopathy	BEFREE	28182668		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	28881062, 30307080		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	35477418	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	26707826, 28954878		★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	HPO_DG			★☆☆☆☆ Found in Text Mining only
LATE-ONSET RETINAL DEGENERATION (disorder)	RETINAL DEGENERATION	BEFREE	31647904		★☆☆☆☆ Found in Text Mining only
Leber Congenital Amaurosis	Leber Congenital Amaurosis	ORPHANET_DG	21763485, 25685757		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leber congenital amaurosis	Leber Congenital Amaurosis	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leber Congenital Amaurosis	Leber Congenital Amaurosis	BEFREE	25666713, 25921210, 30686507, 30846767, 31647904		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leber Congenital Amaurosis	Leber congenital amaurosis	Pubtator	30257863, 30686507, 35477418	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leber Congenital Amaurosis	Leber Congenital Amaurosis	GENOMICS_ENGLAND_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leber Congenital Amaurosis	Leber Congenital Amaurosis	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
LEBER CONGENITAL AMAUROSIS 16	Leber Congenital Amaurosis	UNIPROT_DG	21763485		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LEBER CONGENITAL AMAUROSIS 16	Leber Congenital Amaurosis	BEFREE	25921210, 30686507		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LEBER CONGENITAL AMAUROSIS 16	Leber Congenital Amaurosis	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LEBER CONGENITAL AMAUROSIS 16	Leber Congenital Amaurosis	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LEBER CONGENITAL AMAUROSIS 16	Leber Congenital Amaurosis	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Macular Degeneration	Macular degeneration	Pubtator	35477418	Associate	★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development, Group II	Malformation of cortical development	HPO_DG			★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	31151881		★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	31151881		★☆☆☆☆ Found in Text Mining only
Patterned dystrophy of retinal pigment epithelium	Patterned macular dystrophy	Pubtator	36413373	Associate	★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Newborn	Congenital alveolar dysplasia	BEFREE	28182668		★☆☆☆☆ Found in Text Mining only
Retinal Degeneration	Retinal degeneration	Pubtator	33219695	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal detachment	Pubtator	35477418	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	30257863, 40294858	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	30846767		★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	BEFREE	25475713		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	33219695	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Snowflake vitreoretinal degeneration	Snowflake vitreoretinal degeneration	BEFREE	18179896, 23255580, 25921210, 28954878, 30307080, 30846767, 31572428, 31647904		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Snowflake vitreoretinal degeneration	Snowflake vitreoretinal degeneration	ORPHANET_DG	18179896		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Snowflake vitreoretinal degeneration	Snowflake vitreoretinal degeneration	UNIPROT_DG	18179896		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Snowflake vitreoretinal degeneration	Snowflake vitreoretinal degeneration	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Snowflake vitreoretinal degeneration	Snowflake vitreoretinal degeneration	GENOMICS_ENGLAND_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Snowflake vitreoretinal degeneration	Snowflake vitreoretinal degeneration	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Snowflake vitreoretinal degeneration	Snowflake vitreoretinal degeneration	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Vitreoretinal degeneration	Vitreoretinal degeneration	BEFREE	18179896		★☆☆☆☆ Found in Text Mining only
Vitreoretinal degeneration	Vitreoretinal degeneration	HPO_DG			★☆☆☆☆ Found in Text Mining only