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

    Gene ID: 93107, updated on 2-Nov-2024

    Summary

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    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
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    Genomic context

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    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

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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. 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

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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 association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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

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    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)

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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_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.

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