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    KCNJ15 potassium inwardly rectifying channel subfamily J member 15 [ Homo sapiens (human) ]

    Gene ID: 3772, updated on 10-Dec-2024

    Summary

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    Official Symbol
    KCNJ15provided by HGNC
    Official Full Name
    potassium inwardly rectifying channel subfamily J member 15provided by HGNC
    Primary source
    HGNC:HGNC:6261
    See related
    Ensembl:ENSG00000157551 MIM:602106; AllianceGenome:HGNC:6261
    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
    IRKK; KIR1.3; KIR4.2
    Summary
    Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein has a greater tendency to allow potassium to flow into a cell rather than out of a cell. Eight transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Feb 2013]
    Expression
    Biased expression in kidney (RPKM 38.5), thyroid (RPKM 23.6) and 6 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See KCNJ15 in Genome Data Viewer
    Location:
    21q22.13-q22.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (38229926..38307357)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (36613403..36690781)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (39601848..39679279)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene cutaneous T cell lymphoma-associated antigen 1 pseudogene Neighboring gene Down syndrome critical region 10 Neighboring gene Sharpr-MPRA regulatory region 5297 Neighboring gene Sharpr-MPRA regulatory region 13169 Neighboring gene spermatogenesis associated 20 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18456 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18457 Neighboring gene uncharacterized LOC105372801 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13310 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13311 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr21:39649284-39650483 Neighboring gene long intergenic non-protein coding RNA 1423 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:39704626-39705825 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_62068 Neighboring gene uncharacterized LOC107985513

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. KCNJ15 Expression and Malignant Behavior of Esophageal Squamous Cell Carcinoma. Nakamura S, et al. Ann Surg Oncol, 2020 Jul. PMID 32052303
    2. KCNJ15/Kir4.2 couples with polyamines to sense weak extracellular electric fields in galvanotaxis. Nakajima KI, et al. Nat Commun, 2015 Oct 9. PMID 26449415, Free PMC Article
    3. Potassium channel KCNJ15 is required for histamine-stimulated gastric acid secretion. Yuan J, et al. Am J Physiol Cell Physiol, 2015 Aug 15. PMID 26108660
    4. Replication study for the association of a single-nucleotide polymorphism, rs3746876, within KCNJ15, with susceptibility to type 2 diabetes in a Japanese population. Fukuda H, et al. J Hum Genet, 2013 Jul. PMID 23595124
    5. Identification of KCNJ15 as a susceptibility gene in Asian patients with type 2 diabetes mellitus. Okamoto K, et al. Am J Hum Genet, 2010 Jan. PMID 20085713, Free PMC Article

    See all (34) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Hunting for Familial Parkinson's Disease Mutations in the Post Genome Era.
      Title: Hunting for Familial Parkinson's Disease Mutations in the Post Genome Era.
    2. KCNJ15 Expression and Malignant Behavior of Esophageal Squamous Cell Carcinoma.
      Title: KCNJ15 Expression and Malignant Behavior of Esophageal Squamous Cell Carcinoma.
    3. KCNJ15 couples with polyamines in sensing weak electric fields.
      Title: KCNJ15/Kir4.2 couples with polyamines to sense weak extracellular electric fields in galvanotaxis.
    4. RNA-seq evidence of biallelic expression of KCNJ15 and 10 neighboring genes in at least one primary human tissue tested indicates that the expression of KCNJ15 is uncoupled from the control of the maternally inherited 5mCpG imprints at the WRB differentially methylated region (DMR) in disomic controls or trisomy (Down syndrome) individuals.
      Title: Trisomy 21 Alters DNA Methylation in Parent-of-Origin-Dependent and -Independent Manners.
    5. KCNJ15 has a major role in histamine-stimulated gastric acid secretion.
      Title: Potassium channel KCNJ15 is required for histamine-stimulated gastric acid secretion.
    6. We had performed a replication study using an independent larger Japanese population for the association of rs3746876 within KCNJ15, and observed a significant association of rs3746876 with type 2 diabetes, but this study failed to find original finding.
      Title: Replication study for the association of a single-nucleotide polymorphism, rs3746876, within KCNJ15, with susceptibility to type 2 diabetes in a Japanese population.
    7. It was shown that downregulation of Kcnj15 leads to increased insulin secretion in vitro and in vivo. The mechanism for regulating insulin secretion inolved a calcium-sensiong receptor.
      Title: Inhibition of glucose-stimulated insulin secretion by KCNJ15, a newly identified susceptibility gene for type 2 diabetes.
    8. Observational study of gene-disease association. (HuGE Navigator)
      Title: Identification of KCNJ15 as a susceptibility gene in Asian patients with type 2 diabetes mellitus.
    9. KCNJ15 is a previously unreported susceptibility gene for T2DM among Asians
      Title: Identification of KCNJ15 as a susceptibility gene in Asian patients with type 2 diabetes mellitus.
    10. MUPP1 and Kir4.2 may participate in a protein complex in the nephron that could regulate transport of K(+) as well as other ions.
      Title: MUPP1 complexes renal K+ channels to alter cell surface expression and whole cell currents.
    Submit: New GeneRIF Correction See all GeneRIFs (13)

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC13584

    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 protein binding IPI
    Inferred from Physical Interaction
    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 TAS
    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
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    ATP-sensitive inward rectifier potassium channel 15
    Names
    inward rectifier K(+) channel Kir1.3
    inward rectifier K(+) channel Kir4.2
    inward rectifier K+ channel KIR4.2
    potassium channel, inwardly rectifying subfamily J member 15
    potassium voltage-gated channel subfamily J member 15

    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.

    mRNA and Protein(s)

    1. NM_001276435.2 → NP_001263364.1  ATP-sensitive inward rectifier potassium channel 15

      See identical proteins and their annotated locations for NP_001263364.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate splice junction and contains two additional exons in the 5' UTR compared to variant 1. All eight variants encode the same protein.
      Source sequence(s)
      AI344546, AI453386, AP001422, BC013327, DA968871
      Consensus CDS
      CCDS13656.1
      UniProtKB/Swiss-Prot
      D3DSH5, O00564, Q96L28, Q99446, Q99712
      UniProtKB/TrEMBL
      A8K9U7
      Related
      ENSP00000484960.1, ENST00000612702.4
      Conserved Domains (2) summary
      pfam01007
      Location:30 → 171
      IRK; Inward rectifier potassium channel
      pfam17655
      Location:178 → 349
      IRK_C; Inward rectifier potassium channel C-terminal domain

    2. NM_001276436.2 → NP_001263365.1  ATP-sensitive inward rectifier potassium channel 15

      See identical proteins and their annotated locations for NP_001263365.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses an alternate splice junction and contains two additional exons in the 5' UTR compared to variant 1. All eight variants encode the same protein.
      Source sequence(s)
      AI344546, AI453386, AP001422, BC013327, DB232867
      Consensus CDS
      CCDS13656.1
      UniProtKB/Swiss-Prot
      D3DSH5, O00564, Q96L28, Q99446, Q99712
      UniProtKB/TrEMBL
      A8K9U7
      Related
      ENSP00000479100.1, ENST00000613499.4
      Conserved Domains (2) summary
      pfam01007
      Location:30 → 171
      IRK; Inward rectifier potassium channel
      pfam17655
      Location:178 → 349
      IRK_C; Inward rectifier potassium channel C-terminal domain

    3. NM_001276437.2 → NP_001263366.1  ATP-sensitive inward rectifier potassium channel 15

      See identical proteins and their annotated locations for NP_001263366.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) uses an alternate splice junction and contains an additional exon in the 5' UTR compared to variant 1. All eight variants encode the same protein.
      Source sequence(s)
      AI344546, AI453386, AP001422, BC013327, DA670230, DA675388
      Consensus CDS
      CCDS13656.1
      UniProtKB/Swiss-Prot
      D3DSH5, O00564, Q96L28, Q99446, Q99712
      UniProtKB/TrEMBL
      A8K9U7
      Conserved Domains (2) summary
      pfam01007
      Location:30 → 171
      IRK; Inward rectifier potassium channel
      pfam17655
      Location:178 → 349
      IRK_C; Inward rectifier potassium channel C-terminal domain

    4. NM_001276438.2 → NP_001263367.1  ATP-sensitive inward rectifier potassium channel 15

      See identical proteins and their annotated locations for NP_001263367.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) has an alternate 5'-most exon in the 5' UTR compared to variant 1. All eight variants encode the same protein.
      Source sequence(s)
      AI344546, AI453386, AP001422, BC013327, DA673158, DA675388
      Consensus CDS
      CCDS13656.1
      UniProtKB/Swiss-Prot
      D3DSH5, O00564, Q96L28, Q99446, Q99712
      UniProtKB/TrEMBL
      A8K9U7
      Conserved Domains (2) summary
      pfam01007
      Location:30 → 171
      IRK; Inward rectifier potassium channel
      pfam17655
      Location:178 → 349
      IRK_C; Inward rectifier potassium channel C-terminal domain

    5. NM_001276439.2 → NP_001263368.1  ATP-sensitive inward rectifier potassium channel 15

      See identical proteins and their annotated locations for NP_001263368.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) uses an alternate splice junction and contains an additional exon in the 5' UTR compared to variant 1. All eight variants encode the same protein.
      Source sequence(s)
      AI344546, AI453386, AP001422, BC013327, DA673158
      Consensus CDS
      CCDS13656.1
      UniProtKB/Swiss-Prot
      D3DSH5, O00564, Q96L28, Q99446, Q99712
      UniProtKB/TrEMBL
      A8K9U7
      Conserved Domains (2) summary
      pfam01007
      Location:30 → 171
      IRK; Inward rectifier potassium channel
      pfam17655
      Location:178 → 349
      IRK_C; Inward rectifier potassium channel C-terminal domain

    6. NM_002243.5 → NP_002234.2  ATP-sensitive inward rectifier potassium channel 15

      See identical proteins and their annotated locations for NP_002234.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice junction and contains an additional exon in the 5' UTR compared to variant 1. All eight variants encode the same protein.
      Source sequence(s)
      AI344546, AI453386, AP001422, BC013327, DA968871
      Consensus CDS
      CCDS13656.1
      UniProtKB/Swiss-Prot
      D3DSH5, O00564, Q96L28, Q99446, Q99712
      UniProtKB/TrEMBL
      A8K9U7
      Related
      ENSP00000331698.3, ENST00000328656.8
      Conserved Domains (2) summary
      pfam01007
      Location:30 → 171
      IRK; Inward rectifier potassium channel
      pfam17655
      Location:178 → 349
      IRK_C; Inward rectifier potassium channel C-terminal domain

    7. NM_170736.3 → NP_733932.1  ATP-sensitive inward rectifier potassium channel 15

      See identical proteins and their annotated locations for NP_733932.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. All eight variants encode the same protein.
      Source sequence(s)
      AI344546, AI453386, AP001422, BC013327, D87291
      Consensus CDS
      CCDS13656.1
      UniProtKB/Swiss-Prot
      D3DSH5, O00564, Q96L28, Q99446, Q99712
      UniProtKB/TrEMBL
      A8K9U7
      Related
      ENSP00000381911.2, ENST00000398938.7
      Conserved Domains (2) summary
      pfam01007
      Location:30 → 171
      IRK; Inward rectifier potassium channel
      pfam17655
      Location:178 → 349
      IRK_C; Inward rectifier potassium channel C-terminal domain

    8. NM_170737.3 → NP_733933.1  ATP-sensitive inward rectifier potassium channel 15

      See identical proteins and their annotated locations for NP_733933.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has an alternate 5'-most exon in the 5' UTR compared to variant 1. All eight variants encode the same protein.
      Source sequence(s)
      AI344546, AI453386, AP001422, BC013327, DA632853
      Consensus CDS
      CCDS13656.1
      UniProtKB/Swiss-Prot
      D3DSH5, O00564, Q96L28, Q99446, Q99712
      UniProtKB/TrEMBL
      A8K9U7
      Related
      ENSP00000381907.1, ENST00000398934.5
      Conserved Domains (2) summary
      pfam01007
      Location:30 → 171
      IRK; Inward rectifier potassium channel
      pfam17655
      Location:178 → 349
      IRK_C; Inward rectifier potassium channel C-terminal domain

    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_000021.9 Reference GRCh38.p14 Primary Assembly

      Range
      38229926..38307357
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060945.1 Alternate T2T-CHM13v2.0

      Range
      36613403..36690781
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q99712.2 GenPept UniProtKB/Swiss-Prot:Q99712

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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