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

Gene ID: 3773, updated on 2-Nov-2024

Summary

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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; AllianceGenome:HGNC:6262
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; HKTD; 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
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Genomic context

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See KCNJ16 in Genome Data Viewer
Location:
17q24.3
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (70075225..70135608)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (70953535..71013930)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (68071366..68131749)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371881 Neighboring gene uncharacterized LOC112267896 Neighboring gene uncharacterized LOC124904053 Neighboring gene long intergenic non-protein coding RNA 1028 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12660 Neighboring gene uncharacterized LOC124904052 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:68124354-68125553 Neighboring gene uncharacterized LOC105371882 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8907 Neighboring gene KCNJ2 antisense RNA 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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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Related articles in PubMed

  1. PSD-95 mediates formation of a functional homomeric Kir5.1 channel in the brain. Tanemoto M, et al. Neuron, 2002 Apr 25. PMID 11988170
  2. Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness. Schlingmann KP, et al. J Am Soc Nephrol, 2021 Jun 1. PMID 33811157, Free PMC Article
  3. Kir5.1 channels: potential role in epilepsy and seizure disorders. Staruschenko A, et al. Am J Physiol Cell Physiol, 2022 Sep 1. PMID 35848616, Free PMC Article
  4. Expedient total synthesis of small to medium-sized membrane proteins via Fmoc chemistry. Zheng JS, et al. J Am Chem Soc, 2014 Mar 5. PMID 24559202
  5. An autosomal recessive leucoencephalopathy with ischemic stroke, dysmorphic syndrome and retinitis pigmentosa maps to chromosome 17q24.2-25.3. Bouhouche A, et al. BMC Med Genet, 2012 Mar 21. PMID 22436252, Free PMC Article

See all (36) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Kir5.1 channels: potential role in epilepsy and seizure disorders.
    Title: Kir5.1 channels: potential role in epilepsy and seizure disorders.
  2. lncRNA XIST is associated with preeclampsia and mediates trophoblast cell invasion via miR-340-5p/KCNJ16 signaling pathway.
    Title: lncRNA XIST is associated with preeclampsia and mediates trophoblast cell invasion via miR-340-5p/KCNJ16 signaling pathway.
  3. Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness.
    Title: Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness.
  4. HNF1beta is a transcriptional activator of Kcnj16. Hence, patients with HNF1beta mutations may have reduced Kir5.1 activity in the kidney, resulting in hypokalemia and hypomagnesemia.
    Title: Loss of transcriptional activation of the potassium channel Kir5.1 by HNF1β drives autosomal dominant tubulointerstitial kidney disease.
  5. Gene expression levels of three randomly selected DEGs, VCAN, COL5A1 and KCNJ16, were examined using RT-PCR in 10 ATC samples.. angiogenesis was activated by the high expression of CTHRC1, VCAN and POSTN, providing necessary nutrition for tumor cells
    Title: Elucidation of the molecular mechanisms of anaplastic thyroid carcinoma by integrated miRNA and mRNA analysis.
  6. Variability has been found in a three-generation family with Pierre Robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel approximately 1 Mb deletion upstream of SOX9, and including KCNJ2 and KCNJ16.
    Title: Variability in a three-generation family with Pierre Robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel ∼1 Mb deletion upstream of SOX9, and including KCNJ2 and KCNJ16.
  7. Five de novo mutations were identified in four genes (SCNN1A, KCNJ16, KCNB2, and KCNT1) in three Brugada syndrome patients
    Title: Disease-targeted sequencing of ion channel genes identifies de novo mutations in patients with non-familial Brugada syndrome.
  8. study provides an explanation for the pathophysiology of the p.A167V KCNJ10 mutation, which had not been considered pathogenic on its own; findings provide evidence for functional cooperation of KCNJ10 and KCNJ16; in vitro ascertainment of KCNJ10 function may necessitate co-expression with KCNJ16
    Title: KCNJ10 mutations display differential sensitivity to heteromerisation with KCNJ16.
  9. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  10. Observational study of gene-disease association. (HuGE Navigator)
    Title: Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
Submit: New GeneRIF Correction

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
Hypokalemic tubulopathy and deafness
MedGen: C5543621 OMIM: 619406 GeneReviews: Not available
not available

EBI GWAS Catalog

Description
Genome-wide association study identifies a susceptibility locus for thyrotoxic periodic paralysis at 17q24.3.
EBI GWAS Catalog
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
EBI GWAS Catalog
Genome-wide association study of chronic periodontitis in a general German population.
EBI GWAS Catalog
Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances.
EBI GWAS Catalog
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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

  • MGC33717

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 IGI
Inferred from Genetic Interaction
more info
 PubMed 
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
  
acts_upstream_of_or_within potassium ion transmembrane transport IGI
Inferred from Genetic Interaction
more info
 PubMed 
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
located_in basolateral plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  
part_of voltage-gated potassium channel complex NAS
Non-traceable Author Statement
more info
 PubMed 

General protein information

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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)

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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_001270422.2 → NP_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
    UniProtKB/TrEMBL
    A8K434, Q8N538
    Related
    ENSP00000479817.1, ENST00000615244.4
    Conserved Domains (2) summary
    pfam01007
    Location:37 → 173
    IRK; Inward rectifier potassium channel
    pfam17655
    Location:182 → 349
    IRK_C; Inward rectifier potassium channel C-terminal domain

  2. NM_001291622.3 → NP_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
    CCDS11687.1
    UniProtKB/Swiss-Prot
    Q9NPI9
    UniProtKB/TrEMBL
    A8K434, Q8N538
    Conserved Domains (2) summary
    pfam01007
    Location:37 → 173
    IRK; Inward rectifier potassium channel
    pfam17655
    Location:182 → 349
    IRK_C; Inward rectifier potassium channel C-terminal domain

  3. NM_001291623.2 → NP_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
    CCDS11687.1
    UniProtKB/Swiss-Prot
    Q9NPI9
    UniProtKB/TrEMBL
    A8K434, Q8N538
    Conserved Domains (2) summary
    pfam01007
    Location:37 → 173
    IRK; Inward rectifier potassium channel
    pfam17655
    Location:182 → 349
    IRK_C; Inward rectifier potassium channel C-terminal domain

  4. NM_001291624.1 → NP_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
    UniProtKB/TrEMBL
    A8K434, Q8N538
    Conserved Domains (2) summary
    pfam01007
    Location:37 → 173
    IRK; Inward rectifier potassium channel
    pfam17655
    Location:182 → 349
    IRK_C; Inward rectifier potassium channel C-terminal domain

  5. NM_001291625.1 → NP_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
    UniProtKB/TrEMBL
    A8K434, Q8N538
    Conserved Domains (2) summary
    pfam01007
    Location:37 → 173
    IRK; Inward rectifier potassium channel
    pfam17655
    Location:182 → 349
    IRK_C; Inward rectifier potassium channel C-terminal domain

  6. NM_018658.4 → NP_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
    CCDS11687.1
    UniProtKB/Swiss-Prot
    Q9NPI9
    UniProtKB/TrEMBL
    A8K434, Q8N538
    Related
    ENSP00000283936.1, ENST00000283936.5
    Conserved Domains (2) summary
    pfam01007
    Location:37 → 173
    IRK; Inward rectifier potassium channel
    pfam17655
    Location:182 → 349
    IRK_C; Inward rectifier potassium channel C-terminal domain

  7. NM_170741.4 → NP_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
    CCDS11687.1
    UniProtKB/Swiss-Prot
    Q9NPI9
    UniProtKB/TrEMBL
    A8K434, Q8N538
    Related
    ENSP00000376439.1, ENST00000392671.6
    Conserved Domains (2) summary
    pfam01007
    Location:37 → 173
    IRK; Inward rectifier potassium channel
    pfam17655
    Location:182 → 349
    IRK_C; Inward rectifier potassium channel C-terminal domain

  8. NM_170742.3 → NP_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
    CCDS11687.1
    UniProtKB/Swiss-Prot
    Q9NPI9
    UniProtKB/TrEMBL
    A8K434, Q8N538
    Related
    ENSP00000376438.1, ENST00000392670.5
    Conserved Domains (2) summary
    pfam01007
    Location:37 → 173
    IRK; Inward rectifier potassium channel
    pfam17655
    Location:182 → 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_000017.11 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017024609.2 → XP_016880098.1  inward rectifier potassium channel 16 isoform X1

    UniProtKB/TrEMBL
    A8K434, Q8N538
    Conserved Domains (1) summary
    pfam01007
    Location:72 → 387
    IRK; Inward rectifier potassium channel

  2. XM_047435953.1 → XP_047291909.1  inward rectifier potassium channel 16 isoform X1

  3. XM_047435952.1 → XP_047291908.1  inward rectifier potassium channel 16 isoform X1

  4. XM_047435950.1 → XP_047291906.1  inward rectifier potassium channel 16 isoform X1

  5. XM_047435955.1 → XP_047291911.1  inward rectifier potassium channel 16 isoform X1

  6. XM_047435951.1 → XP_047291907.1  inward rectifier potassium channel 16 isoform X1

  7. XM_006721886.4 → XP_006721949.1  inward rectifier potassium channel 16 isoform X1

    See identical proteins and their annotated locations for XP_006721949.1

    UniProtKB/TrEMBL
    A8K434, Q8N538
    Conserved Domains (1) summary
    pfam01007
    Location:72 → 387
    IRK; Inward rectifier potassium channel

  8. XM_047435954.1 → XP_047291910.1  inward rectifier potassium channel 16 isoform X1

  9. XM_006721887.4 → XP_006721950.1  inward rectifier potassium channel 16 isoform X1

    See identical proteins and their annotated locations for XP_006721950.1

    UniProtKB/TrEMBL
    A8K434, Q8N538
    Conserved Domains (1) summary
    pfam01007
    Location:72 → 387
    IRK; Inward rectifier potassium channel

  10. XM_017024610.2 → XP_016880099.1  inward rectifier potassium channel 16 isoform X1

    UniProtKB/TrEMBL
    A8K434, Q8N538
    Conserved Domains (1) summary
    pfam01007
    Location:72 → 387
    IRK; Inward rectifier potassium channel

  11. XM_047435956.1 → XP_047291912.1  inward rectifier potassium channel 16 isoform X1

  12. XM_011524781.3 → XP_011523083.1  inward rectifier potassium channel 16 isoform X2

    See identical proteins and their annotated locations for XP_011523083.1

    UniProtKB/Swiss-Prot
    Q9NPI9
    UniProtKB/TrEMBL
    A8K434, Q8N538
    Conserved Domains (2) summary
    pfam01007
    Location:37 → 173
    IRK; Inward rectifier potassium channel
    pfam17655
    Location:182 → 349
    IRK_C; Inward rectifier potassium channel C-terminal domain

  13. XM_047435957.1 → XP_047291913.1  inward rectifier potassium channel 16 isoform X1

  14. XM_005257337.5 → XP_005257394.1  inward rectifier potassium channel 16 isoform X1

    See identical proteins and their annotated locations for XP_005257394.1

    UniProtKB/TrEMBL
    A8K434, Q8N538
    Conserved Domains (1) summary
    pfam01007
    Location:72 → 387
    IRK; Inward rectifier potassium channel

  15. XM_047435958.1 → XP_047291914.1  inward rectifier potassium channel 16 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    70953535..71013930
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054316008.1 → XP_054171983.1  inward rectifier potassium channel 16 isoform X1

  2. XM_054316013.1 → XP_054171988.1  inward rectifier potassium channel 16 isoform X1

  3. XM_054316011.1 → XP_054171986.1  inward rectifier potassium channel 16 isoform X1

  4. XM_054316006.1 → XP_054171981.1  inward rectifier potassium channel 16 isoform X1

  5. XM_054316015.1 → XP_054171990.1  inward rectifier potassium channel 16 isoform X1

  6. XM_054316007.1 → XP_054171982.1  inward rectifier potassium channel 16 isoform X1

  7. XM_054316009.1 → XP_054171984.1  inward rectifier potassium channel 16 isoform X1

  8. XM_054316014.1 → XP_054171989.1  inward rectifier potassium channel 16 isoform X1

  9. XM_054316010.1 → XP_054171985.1  inward rectifier potassium channel 16 isoform X1

  10. XM_054316012.1 → XP_054171987.1  inward rectifier potassium channel 16 isoform X1

  11. XM_054316016.1 → XP_054171991.1  inward rectifier potassium channel 16 isoform X1

  12. XM_054316020.1 → XP_054171995.1  inward rectifier potassium channel 16 isoform X2

    UniProtKB/Swiss-Prot
    Q9NPI9

  13. XM_054316017.1 → XP_054171992.1  inward rectifier potassium channel 16 isoform X1

  14. XM_054316018.1 → XP_054171993.1  inward rectifier potassium channel 16 isoform X1

  15. XM_054316019.1 → XP_054171994.1  inward rectifier potassium channel 16 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NPI9.1 GenPept UniProtKB/Swiss-Prot:Q9NPI9

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