KCNG3 potassium voltage-gated channel modifier subfamily G member 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KCNG3provided by HGNC
Official Full Name: potassium voltage-gated channel modifier subfamily G member 3provided by HGNC
Primary source: HGNC:HGNC:18306
See related: Ensembl:ENSG00000171126 MIM:606767; AllianceGenome:HGNC:18306
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: KV6.3; KV10.1
Summary: Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily G. This member is a gamma subunit functioning as a modulatory molecule. Alternative splicing results in two transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 2p21

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (42388352..42493982, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (42393706..42499421, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (42669157..42721122, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Original association of ion transporters mediates the ECM-induced breast cancer cell survival: Kv10.1-Orai1-SPCA2 partnership.
Title: Original association of ion transporters mediates the ECM-induced breast cancer cell survival: Kv10.1-Orai1-SPCA2 partnership.
the correlation between dismal prognosis and Kv10.1 expression to patients with brain metastases or glioblastoma multiforme and, moreover, they strongly suggest a role of tricyclic antidepressants for personalized therapy of brain malignancies.
Title: Analysis of the expression of Kv10.1 potassium channel in patients with brain metastases and glioblastoma multiforme: impact on survival.
[review] an overview of the current status of data linking K(V)10.1 to cancer, and techniques that could exploit K(V)10.1's properties for the management of cancer
Title: Approaches targeting K(V)10.1 open a novel window for cancer diagnosis and therapy.
These results indicate that Kv6.3 is a novel member of the voltage-gated K(+) channel which functions as a modulatory subunit of the Kv2.1 channel.
Title: Molecular cloning and characterization of Kv6.3, a novel modulatory subunit for voltage-gated K(+) channel Kv2.1.
Obligatory heterotetramerization of three previously uncharacterized Kv channel subunits identified in human genome (Kv6.3)(Kv10.1) (Kv11.1)
Title: Obligatory heterotetramerization of three previously uncharacterized Kv channel alpha-subunits identified in the human genome.

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

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

G63099 (e-PCR)
- UniSTS:140074

D2S1825 (e-PCR)
- UniSTS:70192

RH143571 (e-PCR)
- UniSTS:232817

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables potassium channel regulator activity	IBA Inferred from Biological aspect of Ancestor more info
enables potassium channel regulator activity	IDA Inferred from Direct Assay more info	PubMed
enables potassium channel regulator activity	IGI Inferred from Genetic Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables voltage-gated potassium channel activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in action potential	IBA Inferred from Biological aspect of Ancestor more info
involved_in potassium ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein homooligomerization	IEA Inferred from Electronic Annotation more info
involved_in regulation of potassium ion transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of potassium ion transport	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within regulation of potassium ion transport	IGI Inferred from Genetic Interaction more info	PubMed

Component	Evidence Code	Pubs
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
part_of voltage-gated potassium channel complex	IBA Inferred from Biological aspect of Ancestor more info
part_of voltage-gated potassium channel complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: voltage-gated potassium channel regulatory subunit KCNG3

Names: potassium channel, voltage gated modifier subfamily G, member 3; potassium voltage-gated channel, subfamily G, member 3; voltage-gated potassium channel 6.3; voltage-gated potassium channel Kv10.1; voltage-gated potassium channel subunit Kv10.1; voltage-gated potassium channel subunit Kv6.3; voltage-gated potassium channel subunit Kv6.4

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_133329.6 → NP_579875.1 voltage-gated potassium channel regulatory subunit KCNG3 isoform 1

See identical proteins and their annotated locations for NP_579875.1

Status: REVIEWED

Description

Transcript Variant: This variant (1), also known as Kv10.1b, encodes the longer isoform (1).

Source sequence(s)

AC025750, AF348982, BC071558

Consensus CDS

CCDS1809.1

UniProtKB/Swiss-Prot

Q53SC1, Q8TAE7

Related

ENSP00000304127.1, ENST00000306078.2

Conserved Domains (2) summary

cd18422
Location:11 → 122

BTB_POZ_KCNG3; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium voltage-gated channel subfamily G member 3 (KCNG3)

pfam00520
Location:219 → 420

Ion_trans; Ion transport protein
NM_172344.3 → NP_758847.1 voltage-gated potassium channel regulatory subunit KCNG3 isoform 2

See identical proteins and their annotated locations for NP_758847.1

Status: REVIEWED

Description

Transcript Variant: This variant (2), also known as Kv10.1a, lacks an alternate in-frame segment in the coding region, as compared to variant 1. It encodes isoform (2) that lacks an internal segment, as compared to isoform 1.

Source sequence(s)

AC025750, AF348982, AF454547, BC071558

Consensus CDS

CCDS42674.1

UniProtKB/Swiss-Prot

Q8TAE7

Related

ENSP00000378424.4, ENST00000394973.4

Conserved Domains (2) summary

cd18422
Location:11 → 122

BTB_POZ_KCNG3; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium voltage-gated channel subfamily G member 3 (KCNG3)

pfam00520
Location:202 → 409

Ion_trans; Ion transport protein