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CACNG7 calcium voltage-gated channel auxiliary subunit gamma 7 [ Homo sapiens (human) ]

Gene ID: 59284, updated on 5-Mar-2024

Summary

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Official Symbol
CACNG7provided by HGNC
Official Full Name
calcium voltage-gated channel auxiliary subunit gamma 7provided by HGNC
Primary source
HGNC:HGNC:13626
See related
Ensembl:ENSG00000105605 MIM:606899; AllianceGenome:HGNC:13626
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
The protein encoded by this gene is a type II transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. 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, a type I TARP and a calcium channel gamma subunit. [provided by RefSeq, Dec 2010]
Expression
Restricted expression toward brain (RPKM 18.0) See more
Orthologs
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Genomic context

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See CACNG7 in Genome Data Viewer
Location:
19q13.42
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (53909278..53943950)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (56988984..57022442)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (54412532..54447204)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene MYADM antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:54369942-54370917 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:54372027-54372940 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:54372941-54373854 Neighboring gene myeloid associated differentiation marker Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:54385903-54386454 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:54395841-54396380 Neighboring gene protein kinase C gamma Neighboring gene Sharpr-MPRA regulatory region 4174 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:54410617-54411158 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 calcium voltage-gated channel auxiliary subunit gamma 6

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
  • 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. The novel product of a five-exon stargazin-related gene abolishes Ca(V)2.2 calcium channel expression. Moss FJ, et al. EMBO J, 2002 Apr 2. PMID 11927536, Free PMC Article
  2. Cardiac L-type calcium channel (Cav1.2) associates with gamma subunits. Yang L, et al. FASEB J, 2011 Mar. PMID 21127204, Free PMC Article
  3. Calcium channel gamma subunits: a functionally diverse protein family. Chen RS, et al. Cell Biochem Biophys, 2007. PMID 17652770
  4. A cluster of three novel Ca2+ channel gamma subunit genes on chromosome 19q13.4: evolution and expression profile of the gamma subunit gene family. Burgess DL, et al. Genomics, 2001 Feb 1. PMID 11170751
  5. Hippocampal AMPA receptor gating controlled by both TARP and cornichon proteins. Kato AS, et al. Neuron, 2010 Dec 22. PMID 21172611, Free PMC Article

See all (11) citations in PubMed

GeneRIFs: Gene References Into Functions

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)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium channel regulator activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables channel regulator activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables voltage-gated calcium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
  
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 neurotransmitter receptor internalization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in neurotransmitter receptor localization to postsynaptic specialization membrane IEA
Inferred from Electronic Annotation
more info
  
involved_in neurotransmitter receptor transport, postsynaptic endosome to lysosome IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of dendrite extension IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of synaptic transmission, glutamatergic IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in postsynaptic neurotransmitter receptor diffusion trapping IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of AMPA receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of AMPA receptor activity IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of mRNA stability IEA
Inferred from Electronic Annotation
more info
  
involved_in transmission of nerve impulse IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
part_of AMPA glutamate receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of AMPA glutamate receptor complex ISS
Inferred from Sequence or Structural Similarity
more info
  
part_of L-type voltage-gated calcium channel complex IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cerebellar mossy fiber IEA
Inferred from Electronic Annotation
more info
  
located_in early endosome IEA
Inferred from Electronic Annotation
more info
  
located_in glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
  
located_in neuronal cell body IEA
Inferred from Electronic Annotation
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  
is_active_in postsynaptic density membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of voltage-gated calcium channel complex NAS
Non-traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
voltage-dependent calcium channel gamma-7 subunit
Names
TARP gamma-7
calcium channel, voltage-dependent, gamma subunit 7
neuronal voltage-gated calcium channel gamma-7 subunit
transmembrane AMPAR regulatory protein gamma-7

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_001384801.1 → NP_001371730.1  voltage-dependent calcium channel gamma-7 subunit isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents the allele encoded by the GRCh38 reference genome and encodes isoform (2).
    Source sequence(s)
    AC008440
    Conserved Domains (2) summary
    PHA03378
    Location:162 → 291
    PHA03378; EBNA-3B; Provisional
    cl21598
    Location:18 → 143
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

  2. NM_001412134.1 → NP_001399063.1  voltage-dependent calcium channel gamma-7 subunit isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses the same exon combination as variant 2 but represents the allele encoded by the T2T-CHM13v2.0 genome assembly. The encoded isoform (3) has a frameshifted C-terminus compared to isoform 2.
    Source sequence(s)
    CP068259

  3. NM_031896.5 → NP_114102.2  voltage-dependent calcium channel gamma-7 subunit isoform 1

    See identical proteins and their annotated locations for NP_114102.2

    Status: REVIEWED

    Source sequence(s)
    AC008440
    Consensus CDS
    CCDS12868.1
    UniProtKB/Swiss-Prot
    P62955, Q52LL8, Q8VBX3, Q8WXS6, Q9BXT1
    Related
    ENSP00000375647.1, ENST00000391767.6
    Conserved Domains (1) summary
    cl21598
    Location:16 → 195
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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
    53909278..53943950
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    56988984..57022442
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P62955.1 GenPept UniProtKB/Swiss-Prot:P62955

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