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

Gene ID: 59285, updated on 21-Dec-2019

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
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

Genomic context

See CACNG6 in Genome Data Viewer
Location:
19q13.42
Exon count:
6
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (53991149..54012666)
105 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 calcium voltage-gated channel auxiliary subunit gamma 8 Neighboring gene microRNA 935 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

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium channel regulator activity IDA
Inferred from Direct Assay
more info
PubMed 
voltage-gated calcium channel activity NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
calcium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
calcium ion transport NAS
Non-traceable Author Statement
more info
PubMed 
cardiac conduction TAS
Traceable Author Statement
more info
 
regulation of ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
L-type voltage-gated calcium channel complex IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
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)

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

    See identical proteins and their annotated locations for NP_114103.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks two alternate in-frame exons in the central coding region, compared to variant 1, resulting in a shorter isoform (c) with the same N- and C-termini as isoform a. This variant lacks publicly available transcript support but it is supported by RT-PCR data in PubMed ID:11170751.
    Source sequence(s)
    BC021552
    UniProtKB/Swiss-Prot
    Q9BXT2
    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_145814.1NP_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)
    BC021552
    Consensus CDS
    CCDS12870.1
    UniProtKB/Swiss-Prot
    Q9BXT2
    Related
    ENSP00000252729.2, ENST00000252729.6
    Conserved Domains (1) summary
    cl21598
    Location:54239
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
  3. NM_145815.1NP_665814.1  voltage-dependent calcium channel gamma-6 subunit isoform b

    See identical proteins and their annotated locations for NP_665814.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in a shorter isoform (b) with the same N- and C-termini as isoform a. This variant lacks publicly available transcript support but it is supported by RT-PCR data in PubMed ID:11170751.
    Source sequence(s)
    BC021552
    Consensus CDS
    CCDS12871.1
    UniProtKB/Swiss-Prot
    Q9BXT2
    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_102308.1 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: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_006723316.3XP_006723379.1  voltage-dependent calcium channel gamma-6 subunit isoform X1

    Conserved Domains (1) summary
    cl21598
    Location:54182
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
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