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KCNJ13 potassium voltage-gated channel subfamily J member 13 [ Homo sapiens (human) ]

Gene ID: 3769, updated on 12-Aug-2018
Official Symbol
KCNJ13provided by HGNC
Official Full Name
potassium voltage-gated channel subfamily J member 13provided by HGNC
Primary source
HGNC:HGNC:6259
See related
Ensembl:ENSG00000115474 MIM:603208; Vega:OTTHUMG00000153292
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
See KCNJ13 in Genome Data Viewer
Location:
2q37.1
Exon count:
3
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (232765802..232776565, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (233630512..233641275, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene EF-hand domain family member D1 Neighboring gene RNA, 7SL, cytoplasmic 359, pseudogene Neighboring gene GRB10 interacting GYF protein 2 Neighboring gene eukaryotic translation elongation factor 1 beta 2 pseudogene 7 Neighboring gene RNA, U6 small nuclear 107, pseudogene Neighboring gene secondary ossification center associated regulator of chondrocyte maturation Neighboring gene neuronal guanine nucleotide exchange factor

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Leber congenital amaurosis 16
MedGen: C3280062 OMIM: 614186 GeneReviews: Leber Congenital Amaurosis
Compare labs
Snowflake vitreoretinal degeneration
MedGen: C1860405 OMIM: 193230 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

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

Go to the HIV-1, Human Interaction Database

  • Protein digestion and absorption, organism-specific biosystem (from KEGG)
    Protein digestion and absorption, organism-specific biosystemProtein is a dietary component essential for nutritional homeostasis in humans. Normally, ingested protein undergoes a complex series of degradative processes following the action of gastric, pancrea...
  • Protein digestion and absorption, conserved biosystem (from KEGG)
    Protein digestion and absorption, conserved biosystemProtein is a dietary component essential for nutritional homeostasis in humans. Normally, ingested protein undergoes a complex series of degradative processes following the action of gastric, pancrea...

Markers

Homology

Clone Names

  • MGC33328

Gene Ontology Provided by GOA

Function Evidence Code Pubs
inward rectifier potassium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
inward rectifier potassium channel activity NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
potassium ion import IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
potassium ion transport NAS
Non-traceable Author Statement
more info
PubMed 
regulation of ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
inward rectifier potassium channel 13
Names
inward rectifier K(+) channel Kir7.1
potassium channel, inwardly rectifying subfamily J, member 13
potassium inwardly-rectifying channel, subfamily J, member 13

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

  1. NG_016742.1 RefSeqGene

    Range
    5001..15764
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001172416.1NP_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, OTTHUMP00000203614, ENST00000409779.1, OTTHUMT00000330576
    Conserved Domains (1) summary
    cl21560
    Location:2175
    Ion_trans_2; Ion channel
  2. NM_001172417.1NP_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:2251
    Ion_trans_2; Ion channel
  3. NM_002242.4NP_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
    O60928
    Related
    ENSP00000233826.3, OTTHUMP00000164358, ENST00000233826.3, OTTHUMT00000257036
    Conserved Domains (1) summary
    cl21560
    Location:21331
    Ion_trans_2; Ion channel

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    232765802..232776565 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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