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    CACNG6 calcium voltage-gated channel auxiliary subunit gamma 6 [ Homo sapiens (human) ]

    Gene ID: 59285, updated on 27-Nov-2024

    Summary

    Official Symbol
    CACNG6provided by HGNC
    Official Full Name
    calcium voltage-gated channel auxiliary subunit gamma 6provided by HGNC
    Primary source
    HGNC:HGNC:13625
    See related
    Ensembl:ENSG00000130433 MIM:606898; AllianceGenome:HGNC:13625
    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
    Summary
    Voltage-dependent calcium channels are composed of five subunits. The protein encoded by this gene represents one of these subunits, gamma, and is one of two known gamma subunit proteins. This particular gamma subunit is an integral membrane protein that is thought to stabilize the calcium channel in an inactive (closed) state. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members that function as transmembrane AMPA receptor regulatory proteins (TARPs). Alternative splicing results in multiple transcript variants. Variants in this gene have been associated with aspirin-intolerant asthma. [provided by RefSeq, Dec 2010]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CACNG6 in Genome Data Viewer
    Location:
    19q13.42
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (53991149..54012666)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (57069639..57091148)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (54494403..54515920)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene calcium voltage-gated channel auxiliary subunit gamma 7 Neighboring gene MPRA-validated peak3551 silencer Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr19:54460576-54461110 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:54463321-54464221 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:54465032-54465552 Neighboring gene calcium voltage-gated channel auxiliary subunit gamma 8 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:54483237-54483769 Neighboring gene microRNA 935 Neighboring gene Sharpr-MPRA regulatory region 12456 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:54526043-54526246 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr19:54539139-54539714 Neighboring gene V-set and transmembrane domain containing 1 Neighboring gene T cell-interacting, activating receptor on myeloid cells 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium channel regulator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables calcium channel regulator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables voltage-gated calcium channel activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in calcium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in calcium ion transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in regulation of calcium ion transmembrane transport via high voltage-gated calcium channel IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    part_of L-type voltage-gated calcium channel complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of L-type voltage-gated calcium channel complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    part_of voltage-gated calcium channel complex NAS
    Non-traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    voltage-dependent calcium channel gamma-6 subunit
    Names
    calcium channel, voltage-dependent, gamma subunit 6
    neuronal voltage-gated calcium channel gamma-6 subunit

    NCBI Reference Sequences (RefSeq)

    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_031897.3NP_114103.2  voltage-dependent calcium channel gamma-6 subunit isoform c

      See identical proteins and their annotated locations for NP_114103.2

      Status: REVIEWED

      Source sequence(s)
      AC008440
      UniProtKB/TrEMBL
      A6NP74
      Related
      ENSP00000319135.1, ENST00000352529.1
      Conserved Domains (1) summary
      cl21598
      Location:54110
      PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
    2. NM_145814.2NP_665813.1  voltage-dependent calcium channel gamma-6 subunit isoform a

      See identical proteins and their annotated locations for NP_665813.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AC008440, BC021552
      Consensus CDS
      CCDS12870.1
      UniProtKB/Swiss-Prot
      Q9BXT2
      Related
      ENSP00000252729.2, ENST00000252729.7
      Conserved Domains (1) summary
      cl21598
      Location:54239
      PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
    3. NM_145815.2NP_665814.1  voltage-dependent calcium channel gamma-6 subunit isoform b

      See identical proteins and their annotated locations for NP_665814.1

      Status: REVIEWED

      Source sequence(s)
      AC008440
      Consensus CDS
      CCDS12871.1
      UniProtKB/TrEMBL
      A6NFR2
      Related
      ENSP00000319097.2, ENST00000346968.2
      Conserved Domains (1) summary
      cl21598
      Location:54137
      PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

    RNA

    1. NR_102308.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains an alternate 5' exon and lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because it lacks a supported ORF that is likely to be translated.
      Source sequence(s)
      BC021552, BX281606

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      53991149..54012666
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      57069639..57091148
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)