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

    Gene ID: 3769, updated on 27-Nov-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See KCNJ13 in Genome Data Viewer
    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_000002.12Genomic Context describing neighboring genes Neighboring gene EF-hand domain family member D1 Neighboring gene small nucleolar RNA U13 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:233561848-233562544 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:233562545-233563239 Neighboring gene GRB10 interacting GYF protein 2 Neighboring gene eukaryotic translation elongation factor 1 beta 2 pseudogene 7 Neighboring gene Sharpr-MPRA regulatory region 7298 Neighboring gene RNA, U6 small nuclear 107, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:233736904-233737669 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12464 Neighboring gene secondary ossification center associated regulator of chondrocyte maturation

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Leber congenital amaurosis 16 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
    Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
    EBI GWAS Catalog

    HIV-1 interactions

    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

    General gene information

    Markers

    Clone Names

    • MGC33328

    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

    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)

    NEW Try the new Transcript table

    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, ENST00000409779.1
      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
      A0PGH1, O60928, O76023, Q53SA1, Q8N3Y4
      Related
      ENSP00000233826.3, ENST00000233826.4
      Conserved Domains (1) summary
      cl21560
      Location:21331
      Ion_trans_2; Ion channel

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_047444253.1XP_047300209.1  inward rectifier potassium channel 13 isoform X1

      UniProtKB/Swiss-Prot
      A0PGH1, O60928, O76023, Q53SA1, Q8N3Y4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      233252565..233263328 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054341939.1XP_054197914.1  inward rectifier potassium channel 13 isoform X1

      UniProtKB/Swiss-Prot
      A0PGH1, O60928, O76023, Q53SA1, Q8N3Y4