U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

KCNG4 potassium voltage-gated channel modifier subfamily G member 4 [ Homo sapiens (human) ]

Gene ID: 93107, updated on 28-Oct-2024

Summary

Go to the top of the page Help
Official Symbol
KCNG4provided by HGNC
Official Full Name
potassium voltage-gated channel modifier subfamily G member 4provided by HGNC
Primary source
HGNC:HGNC:19697
See related
Ensembl:ENSG00000168418 MIM:607603; AllianceGenome:HGNC:19697
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; KV6.4
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 functions as a modulatory subunit. The gene has strong expression in brain. Multiple alternatively spliced variants have been found in normal and cancerous tissues. [provided by RefSeq, Jul 2008]
Expression
Low expression observed in reference dataset See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See KCNG4 in Genome Data Viewer
Location:
16q24.1
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (84218657..84240012, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (90284733..90306433, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (84252263..84273618, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene dynein axonemal assembly factor 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:84220503-84221003 Neighboring gene Sharpr-MPRA regulatory region 3417 Neighboring gene TATA-box binding protein associated factor, RNA polymerase I subunit C Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:84227912-84229111 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:84229267-84229889 Neighboring gene splicing factor proline/glutamine-rich Neighboring gene adenosine deaminase domain containing 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:84247937-84248438 Neighboring gene RNA, 5S ribosomal pseudogene 433 Neighboring gene uncharacterized LOC124903734

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. Human Labor Pain Is Influenced by the Voltage-Gated Potassium Channel K(V)6.4 Subunit. Lee MC, et al. Cell Rep, 2020 Jul 21. PMID 32697988, Free PMC Article
  2. Conserved negative charges in the N-terminal tetramerization domain mediate efficient assembly of Kv2.1 and Kv2.1/Kv6.4 channels. Bocksteins E, et al. J Biol Chem, 2009 Nov 13. PMID 19717558, Free PMC Article
  3. Domain analysis of Kv6.3, an electrically silent channel. Ottschytsch N, et al. J Physiol, 2005 Nov 1. PMID 16096342, Free PMC Article
  4. KCNG4 Genetic Variant Linked to Migraine Prevents Expression of KCNB1. Lacroix G, et al. Int J Mol Sci, 2024 Aug 17. PMID 39201645, Free PMC Article
  5. Modulation of Closed-State Inactivation in Kv2.1/Kv6.4 Heterotetramers as Mechanism for 4-AP Induced Potentiation. Stas JI, et al. PLoS One, 2015. PMID 26505474, Free PMC Article

See all (19) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. KCNG4 Genetic Variant Linked to Migraine Prevents Expression of KCNB1.
    Title: KCNG4 Genetic Variant Linked to Migraine Prevents Expression of KCNB1.
  2. Human Labor Pain Is Influenced by the Voltage-Gated Potassium Channel KV6.4 Subunit.
    Title: Human Labor Pain Is Influenced by the Voltage-Gated Potassium Channel K(V)6.4 Subunit.
  3. KCNE5 subunits may affect Kv2.1 homotetramers and Kv2.1/Kv6.4 heterotetramers in vivo, resulting in more tissue-specific fine-tuning mechanisms.
    Title: Auxiliary KCNE subunits modulate both homotetrameric Kv2.1 and heterotetrameric Kv2.1/Kv6.4 channels.
  4. KvS subunits modify the pharmacological response of Kv2 subunits when assembled in heterotetramers and illustrate the potential of KvS subunits to provide unique properties to the heterotetramers, as is the case for 4-AP on Kv2.1/Kv6.4 channels.
    Title: Modulation of Closed-State Inactivation in Kv2.1/Kv6.4 Heterotetramers as Mechanism for 4-AP Induced Potentiation.
  5. 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.
  6. Mutation of histidine 105 in the T1 domain of the potassium channel Kv2.1 disrupts heteromerization with Kv6.3 and Kv6.4.
    Title: Mutation of histidine 105 in the T1 domain of the potassium channel Kv2.1 disrupts heteromerization with Kv6.3 and Kv6.4.
  7. This study suggests that the silent behaviour of Kv6.3 is largely caused by the C-terminal part of its sixth transmembrane domain that causes ER retention of the subunit.
    Title: Domain analysis of Kv6.3, an electrically silent channel.
  8. 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

Go to the top of the page Help

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
EBI GWAS Catalog

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • MGC4558, MGC129609

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 transmembrane transporter binding IPI
Inferred from Physical Interaction
more info
 PubMed 
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 
Component Evidence Code Pubs
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
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

Go to the top of the page Help
Preferred Names
voltage-gated potassium channel regulatory subunit KCNG4
Names
potassium channel, voltage gated modifier subfamily G, member 4
voltage-gated potassium channel Kv6.3
voltage-gated potassium channel subunit Kv6.3
voltage-gated potassium channel subunit Kv6.4

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_172347.3 → NP_758857.1  voltage-gated potassium channel regulatory subunit KCNG4

    See identical proteins and their annotated locations for NP_758857.1

    Status: REVIEWED

    Source sequence(s)
    AC009123
    Consensus CDS
    CCDS10945.1
    UniProtKB/Swiss-Prot
    Q8TDN1, Q96H24
    UniProtKB/TrEMBL
    Q32MC1, Q547S7
    Related
    ENSP00000312129.4, ENST00000308251.6
    Conserved Domains (4) summary
    smart00225
    Location:61 → 161
    BTB; Broad-Complex, Tramtrack and Bric a brac
    pfam00520
    Location:262 → 465
    Ion_trans; Ion transport protein
    pfam02214
    Location:61 → 160
    BTB_2; BTB/POZ domain
    pfam07885
    Location:377 → 459
    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

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    84218657..84240012 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    90284733..90306433 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_133490.2: Suppressed sequence

    Description
    NM_133490.2: This RefSeq was permanently suppressed because its source, BC008969.1, is from a cancerous cell line.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8TDN1.1 GenPept UniProtKB/Swiss-Prot:Q8TDN1

Gene LinkOut

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

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous