KCNK16 potassium two pore domain channel subfamily K member 16 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KCNK16provided by HGNC
Official Full Name: potassium two pore domain channel subfamily K member 16provided by HGNC
Primary source: HGNC:HGNC:14464
See related: Ensembl:ENSG00000095981 MIM:607369; AllianceGenome:HGNC:14464
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: TALK1; TALK-1; K2p16.1
Summary: The protein encoded by this gene belongs to the family of potassium channel proteins containing two pore-forming P domains. This channel is an open rectifier which primarily passes outward current under physiological K+ concentrations. This gene is expressed predominantly in the pancreas and is activated at alkaline pH. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Sep 2008]
Expression: Biased expression in stomach (RPKM 3.5), pancreas (RPKM 1.4) and 2 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6p21.2

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (39314570..39322968, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (39139109..39147515, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (39282474..39290744, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

data establish TALK-1 channels as key regulators of beta cell ER Ca(2+) and suggest that TALK-1 may be a therapeutic target to reduce ER Ca(2+) handling defects in beta cells during the pathogenesis of diabetes.
Title: TALK-1 channels control β cell endoplasmic reticulum Ca(2+) homeostasis.
The TALK-1/iOPN complex caused Vm hyperpolarization and reduced beta-cell glucose-stimulated Ca2+ influx, which is predicted to inhibit glucose stimulated insulin secretion.
Title: Osteopontin activates the diabetes-associated potassium channel TALK-1 in pancreatic β-cells.
These findings reveal TALK-1 channels as important modulators of second-phase insulin secretion and suggest a clinically relevant mechanism for rs1535500, which may increase type 2 diabetes risk by limiting glucose-stimulated insulin secretion.
Title: Type 2 Diabetes-Associated K+ Channel TALK-1 Modulates β-Cell Electrical Excitability, Second-Phase Insulin Secretion, and Glucose Homeostasis.
at least two functional TALK-1 variants are present and may serve as background K+ currents in certain cells of the human pancreas.
Title: Functional properties of four splice variants of a human pancreatic tandem-pore K+ channel, TALK-1.

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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

EBI GWAS Catalog

Description
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:482910

NoName (e-PCR)
- UniSTS:480680

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables outward rectifier potassium channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables outward rectifier potassium channel activity	IDA Inferred from Direct Assay more info	PubMed
enables potassium channel activity	IDA Inferred from Direct Assay more info	PubMed
enables potassium ion leak channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in endoplasmic reticulum calcium ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in membrane repolarization during action potential	ISS Inferred from Sequence or Structural Similarity more info
involved_in potassium ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within potassium ion transport	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of action potential	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of insulin secretion involved in cellular response to glucose stimulus	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of release of sequestered calcium ion into cytosol	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrial inner membrane	IEA Inferred from Electronic Annotation more info
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: potassium channel subfamily K member 16

Names: 2P domain potassium channel Talk-1; TWIK-related alkaline pH-activated K(+) channel 1; pancreatic potassium channel Talk-1; potassium channel, subfamily K, member 16; potassium channel, two pore domain subfamily K, 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)

NM_001135105.2 → NP_001128577.1 potassium channel subfamily K member 16 isoform 1

See identical proteins and their annotated locations for NP_001128577.1

Status: REVIEWED

Description

Transcript Variant: This variant (1, also known as TALK-1c) encodes the longest isoform (1).

Source sequence(s)

AL136087, BC111860, BP387644, CA843225

Consensus CDS

CCDS47421.1

UniProtKB/Swiss-Prot

Q96T55

Related

ENSP00000391498.2, ENST00000425054.6

Conserved Domains (1) summary

pfam07885
Location:92 → 148

Ion_trans_2; Ion channel
NM_001135106.2 → NP_001128578.1 potassium channel subfamily K member 16 isoform 3

See identical proteins and their annotated locations for NP_001128578.1

Status: REVIEWED

Description

Transcript Variant: This variant (3, also known as TALK-1b) contains an alternative 3' terminal exon compared to transcript variant 1, resulting in a shorter isoform (3) with a distinct C-terminus compared to isoform 1.

Source sequence(s)

AF358909, AL136087, BC111860, CA843225, EU978943

Consensus CDS

CCDS47422.1

UniProtKB/Swiss-Prot

Q96T55

Related

ENSP00000415375.2, ENST00000437525.3

Conserved Domains (1) summary

pfam07885
Location:92 → 148

Ion_trans_2; Ion channel
NM_001135107.2 → NP_001128579.1 potassium channel subfamily K member 16 isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (4, also known as TALK-1d) uses a different acceptor splice site at the 3' terminal exon compared to transcript variant 1, resulting in a shorter isoform (4) with a distinct C-terminus compared to isoform 1.

Source sequence(s)

AL136087, BC111860, BP387644, CA843225

Consensus CDS

CCDS47420.1

UniProtKB/Swiss-Prot

Q96T55

Related

ENSP00000362324.4, ENST00000373227.8

Conserved Domains (1) summary

pfam07885
Location:92 → 148

Ion_trans_2; Ion channel
NM_001363784.1 → NP_001350713.1 potassium channel subfamily K member 16 isoform 5

Status: REVIEWED

Description

Transcript Variant: This variant (5) differs in the 5' UTR and coding sequence and in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (5) is shorter at the N-terminus and has a shorter and distinct C-terminus compared to isoform 1.

Source sequence(s)

AL136087

Consensus CDS

CCDS87391.1

UniProtKB/TrEMBL

D6RC57

Related

ENSP00000423842.1, ENST00000507712.5

Conserved Domains (1) summary

pfam07885
Location:27 → 83

Ion_trans_2; Ion channel
NM_032115.4 → NP_115491.1 potassium channel subfamily K member 16 isoform 2

See identical proteins and their annotated locations for NP_115491.1

Status: REVIEWED

Description

Transcript Variant: This variant (2, also known as TALK-1a) contains an additional coding exon and uses a different acceptor splice site at the 3' terminal exon compared to transcript variant 1, resulting in a shorter isoform (2) with a distinct C-terminus compared to isoform 1.

Source sequence(s)

AF358909, AL136087, BC111860, BP387644, CA843225

Consensus CDS

CCDS4843.1

UniProtKB/Swiss-Prot

B5TJL9, Q2M2N9, Q5TCF3, Q6X6Z3, Q6X6Z4, Q6X6Z5, Q96T55, Q9H591

Related

ENSP00000362326.5, ENST00000373229.9

Conserved Domains (1) summary

pfam07885
Location:92 → 148

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

NC_000006.12 Reference GRCh38.p14 Primary Assembly

Range

39314570..39322968 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017011346.2 → XP_016866835.1 potassium channel subfamily K member 16 isoform X1

UniProtKB/Swiss-Prot

Q96T55

Conserved Domains (1) summary

pfam07885
Location:92 → 148

Ion_trans_2; Ion channel