KCNJ13 potassium inwardly rectifying channel subfamily J member 13 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KCNJ13provided by HGNC
Official Full Name: potassium inwardly rectifying channel subfamily J member 13provided by HGNC
Primary source: HGNC:HGNC:6259
See related: Ensembl:ENSG00000115474 MIM:603208; AllianceGenome:HGNC:6259
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SVD; LCA16; KIR1.4; KIR7.1
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 conductance proteins that have a low dependence on potassium concentration. Mutations in this gene are associated with snowflake vitreoretinal degeneration. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010]
Expression: Biased expression in small intestine (RPKM 40.5), thyroid (RPKM 3.6) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 2q37.1

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (232765802..232776565, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (233252565..233263328, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (233630512..233641275, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The unique structural characteristics of the Kir 7.1 inward rectifier potassium channel: a novel player in energy homeostasis control.
Title: The unique structural characteristics of the Kir 7.1 inward rectifier potassium channel: a novel player in energy homeostasis control.
A novel phenotype associated with the R162W variant in the KCNJ13 gene.
Title: A novel phenotype associated with the R162W variant in the KCNJ13 gene.
KCNJ13 Gene Deletion Impairs Cell Alignment and Phagocytosis in Retinal Pigment Epithelium Derived from Human-Induced Pluripotent Stem Cells.
Title: KCNJ13 Gene Deletion Impairs Cell Alignment and Phagocytosis in Retinal Pigment Epithelium Derived from Human-Induced Pluripotent Stem Cells.
Both human and zebrafish variants are missense and located within the conserved transmembrane M2 protein domain, suggesting that disruption of this region may contribute to retinovascular changes as an additional feature to the previously described LCA phenotype. Close monitoring of other patients with similar mutations may be required to minimise the ensuing retinal damage.
Title: Missense variants in the conserved transmembrane M2 protein domain of KCNJ13 associated with retinovascular changes in humans and zebrafish.
We propose that mutant RPE Kir7.1 channels contribute directly to the abnormal ERG associated with blindness via alterations in sub-retinal space K(+) homeostasis in the vicinity of the photoreceptor outer segment.
Title: Abnormal Electroretinogram after Kir7.1 Channel Suppression Suggests Role in Retinal Electrophysiology.
Results confirm earlier findings that the MC4R-Kir7.1 signaling is independent of Gs-AC-cAMP signaling pathway. Furthermore, these data suggest that a noncanonical GPCR signaling pathway may be essential for this interaction.
Title: Characterization of MC4R Regulation of the Kir7.1 Channel Using the Tl(+) Flux Assay.
The activated oxytocin receptor was able to inhibit the Kir7.1 channel, an important mediator of sub retinal waste transport and K(+) homeostasis.
Title: Oxytocin (OXT)-stimulated inhibition of Kir7.1 activity is through PIP(2)-dependent Ca(2+) response of the oxytocin receptor in the retinal pigment epithelium in vitro.
KCNJ13 mutations are responsible for early-onset retinal dystrophy, featuring remarkable clumpy pigment deposits at the level of the retinal pigment epithelium, suggesting dysfunction and disorganization of this tissue.
Title: LEBER CONGENITAL AMAUROSIS WITH LARGE RETINAL PIGMENT CLUMPS CAUSED BY COMPOUND HETEROZYGOUS MUTATIONS IN KCNJ13.
Kir7.1 mutations are associated with vision disorders to include novel insights into the molecular mechanism of disease pathobiology in Leber Congenital Amaurosis.
Title: A Novel KCNJ13 Nonsense Mutation and Loss of Kir7.1 Channel Function Causes Leber Congenital Amaurosis (LCA16).
Juvenile or early-adult-onset cataract in the setting of a congenital vitreo-retinal dystrophy notable for fibrosis over the disc and clumped pigmentation in the posterior pole is a unique phenotype that suggests recessive KCNJ13 mutations.
Title: A distinct vitreo-retinal dystrophy with early-onset cataract from recessive KCNJ13 mutations.

Submit: New GeneRIF Correction See all GeneRIFs (19)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Leber congenital amaurosis 16 MedGen: C3280062 OMIM: 614186 GeneReviews: Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview	not available
Snowflake vitreoretinal degeneration MedGen: C1860405 OMIM: 193230 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analysis identifies 13 new risk loci for schizophrenia. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of potassium inwardly-rectifying channel, subfamily J, member 13 (KCNJ13; KIR7.1) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	Microarray analysis indicates HIV-1 Tat-induced downregulation of potassium inwardly-rectifying channel, subfamily J, member 13 (KCNJ13) in primary human brain microvascular endothelial cells	PubMed

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General gene information

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Markers

D2S172 (e-PCR)
- UniSTS:46623

RH94296 (e-PCR)
- UniSTS:87141

RH94056 (e-PCR)
- UniSTS:89577

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables inward rectifier potassium channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables inward rectifier potassium channel activity	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in potassium ion import across plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in potassium ion transport	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of monoatomic ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of monoatomic ion channel complex	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: inward rectifier potassium channel 13

Names: inward rectifier K(+) channel Kir7.1; potassium channel, inwardly rectifying subfamily J, member 13; potassium voltage-gated channel subfamily J member 13

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_016742.1 RefSeqGene

Range

5001..15764

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001172416.1 → NP_001165887.1 inward rectifier potassium channel 13 isoform 2

See identical proteins and their annotated locations for NP_001165887.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. It encodes isoform 2, which has a shorter and distinct C-terminus, compared to isoform 1.

Source sequence(s)

AC064852, AJ007557, DB173405

Consensus CDS

CCDS54437.1

UniProtKB/Swiss-Prot

O60928

Related

ENSP00000386408.1, ENST00000409779.1

Conserved Domains (1) summary

cl21560
Location:21 → 75

Ion_trans_2; Ion channel
NM_001172417.1 → NP_001165888.1 inward rectifier potassium channel 13 isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate splice site in the 5' UTR and uses a downstream start codon, compared to variant 1. It encodes isoform 3, which has a shorter N-terminus, compared to isoform 1.

Source sequence(s)

AC064852, AJ007557, DB173405, DN993097

UniProtKB/Swiss-Prot

O60928

Conserved Domains (1) summary

cl21560
Location:2 → 251

Ion_trans_2; Ion channel
NM_002242.4 → NP_002233.2 inward rectifier potassium channel 13 isoform 1

See identical proteins and their annotated locations for NP_002233.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AC064852, AJ007557, AK314019

Consensus CDS

CCDS2498.1

UniProtKB/Swiss-Prot

A0PGH1, O60928, O76023, Q53SA1, Q8N3Y4

Related

ENSP00000233826.3, ENST00000233826.4

Conserved Domains (1) summary

cl21560
Location:21 → 331

Ion_trans_2; Ion channel