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KCNJ16 potassium inwardly rectifying channel subfamily J member 16 [ Homo sapiens (human) ]

Gene ID: 3773, updated on 25-Aug-2020

Summary

Official Symbol
KCNJ16provided by HGNC
Official Full Name
potassium inwardly rectifying channel subfamily J member 16provided by HGNC
Primary source
HGNC:HGNC:6262
See related
Ensembl:ENSG00000153822 MIM:605722
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
BIR9; KIR5.1
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, which tends to allow potassium to flow into rather than out of a cell, can form heterodimers with two other inward-rectifier type potassium channels. It may function in fluid and pH balance regulation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2014]
Expression
Biased expression in kidney (RPKM 78.7), thyroid (RPKM 73.9) and 4 other tissues See more
Orthologs

Genomic context

See KCNJ16 in Genome Data Viewer
Location:
17q24.3
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (70075225..70135608)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (68071348..68131749)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371881 Neighboring gene uncharacterized LOC112267896 Neighboring gene long intergenic non-protein coding RNA 1028 Neighboring gene uncharacterized LOC105371882 Neighboring gene KCNJ2 antisense RNA 1

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
Genome-wide association study identifies a susceptibility locus for thyrotoxic periodic paralysis at 17q24.3.
GeneReviews: Not available
Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortiu
GeneReviews: Not available
Genome-wide association study of chronic periodontitis in a general German population.
GeneReviews: Not available
Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances.
GeneReviews: Not available
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC33717

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 across plasma membrane 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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
basolateral plasma membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
voltage-gated potassium channel complex NAS
Non-traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
inward rectifier potassium channel 16
Names
inward rectifier K(+) channel Kir5.1
inward rectifier K+ channel KIR5.1
potassium channel, inwardly rectifying subfamily J member 16
potassium voltage-gated channel subfamily J member 16

NCBI Reference Sequences (RefSeq)

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_001270422.2NP_001257351.1  inward rectifier potassium channel 16 isoform b

    See identical proteins and their annotated locations for NP_001257351.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1-8 all encode the same isoform (b).
    Source sequence(s)
    AF153816, DA071381, DA627411, DA628604
    Consensus CDS
    CCDS11687.1
    UniProtKB/Swiss-Prot
    Q9NPI9
    Related
    ENSP00000479817.1, ENST00000615244.4
    Conserved Domains (1) summary
    pfam01007
    Location:37352
    IRK; Inward rectifier potassium channel
  2. NM_001291622.3NP_001278551.2  inward rectifier potassium channel 16 isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. Variants 1-8 all encode the same isoform (b).
    Source sequence(s)
    AC005208, KF459700
    Consensus CDS
    CCDS74141.1
  3. NM_001291623.2NP_001278552.2  inward rectifier potassium channel 16 isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR compared to variant 1. Variants 1-8 all encode the same isoform (b).
    Source sequence(s)
    AC005208
    Consensus CDS
    CCDS74141.1
  4. NM_001291624.1NP_001278553.1  inward rectifier potassium channel 16 isoform b

    See identical proteins and their annotated locations for NP_001278553.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) differs in the 5' UTR compared to variant 1. Variants 1-8 all encode the same isoform (b).
    Source sequence(s)
    AF153816, DA071381, DA636394
    Consensus CDS
    CCDS11687.1
    UniProtKB/Swiss-Prot
    Q9NPI9
    Conserved Domains (1) summary
    pfam01007
    Location:37352
    IRK; Inward rectifier potassium channel
  5. NM_001291625.1NP_001278554.1  inward rectifier potassium channel 16 isoform b

    See identical proteins and their annotated locations for NP_001278554.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) differs in the 5' UTR compared to variant 1. Variants 1-8 all encode the same isoform (b).
    Source sequence(s)
    AF153816, DA109745, DA636394
    Consensus CDS
    CCDS11687.1
    UniProtKB/Swiss-Prot
    Q9NPI9
    Conserved Domains (1) summary
    pfam01007
    Location:37352
    IRK; Inward rectifier potassium channel
  6. NM_018658.4NP_061128.3  inward rectifier potassium channel 16 isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform b. Variants 1-8 all encode isoform b.
    Source sequence(s)
    AC005208, KF459700
    Consensus CDS
    CCDS74141.1
    Related
    ENSP00000283936.1, ENST00000283936.5
  7. NM_170741.4NP_733937.3  inward rectifier potassium channel 16 isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1-8 all encode the same isoform (b).
    Source sequence(s)
    AC005208, KF459700
    Consensus CDS
    CCDS74141.1
    Related
    ENSP00000376439.1, ENST00000392671.5
  8. NM_170742.3NP_733938.3  inward rectifier potassium channel 16 isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1-8 all encode the same isoform (b).
    Source sequence(s)
    AC005208
    Consensus CDS
    CCDS74141.1
    Related
    ENSP00000376438.1, ENST00000392670.5

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    70075225..70135608
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017024609.1XP_016880098.1  inward rectifier potassium channel 16 isoform X1

    UniProtKB/TrEMBL
    K7EJR9
    Related
    ENSP00000465295.1, ENST00000585558.5
    Conserved Domains (1) summary
    pfam01007
    Location:72387
    IRK; Inward rectifier potassium channel
  2. XM_006721885.3XP_006721948.1  inward rectifier potassium channel 16 isoform X1

    See identical proteins and their annotated locations for XP_006721948.1

    UniProtKB/TrEMBL
    K7EJR9
    Conserved Domains (1) summary
    pfam01007
    Location:72387
    IRK; Inward rectifier potassium channel
  3. XM_006721886.3XP_006721949.1  inward rectifier potassium channel 16 isoform X1

    See identical proteins and their annotated locations for XP_006721949.1

    UniProtKB/TrEMBL
    K7EJR9
    Conserved Domains (1) summary
    pfam01007
    Location:72387
    IRK; Inward rectifier potassium channel
  4. XM_006721887.3XP_006721950.1  inward rectifier potassium channel 16 isoform X1

    See identical proteins and their annotated locations for XP_006721950.1

    UniProtKB/TrEMBL
    K7EJR9
    Conserved Domains (1) summary
    pfam01007
    Location:72387
    IRK; Inward rectifier potassium channel
  5. XM_017024610.1XP_016880099.1  inward rectifier potassium channel 16 isoform X1

    UniProtKB/TrEMBL
    K7EJR9
    Conserved Domains (1) summary
    pfam01007
    Location:72387
    IRK; Inward rectifier potassium channel
  6. XM_011524781.2XP_011523083.1  inward rectifier potassium channel 16 isoform X2

    See identical proteins and their annotated locations for XP_011523083.1

    UniProtKB/Swiss-Prot
    Q9NPI9
    Conserved Domains (1) summary
    pfam01007
    Location:37352
    IRK; Inward rectifier potassium channel
  7. XM_005257337.4XP_005257394.1  inward rectifier potassium channel 16 isoform X1

    See identical proteins and their annotated locations for XP_005257394.1

    UniProtKB/TrEMBL
    K7EJR9
    Conserved Domains (1) summary
    pfam01007
    Location:72387
    IRK; Inward rectifier potassium channel
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