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CACNG5 calcium voltage-gated channel auxiliary subunit gamma 5 [ Homo sapiens (human) ]

Gene ID: 27091, updated on 4-Jun-2020

Summary

Official Symbol
CACNG5provided by HGNC
Official Full Name
calcium voltage-gated channel auxiliary subunit gamma 5provided by HGNC
Primary source
HGNC:HGNC:1409
See related
Ensembl:ENSG00000075429 MIM:606405
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. This gene is a susceptibility locus for schizophrenia and bipolar disorder. [provided by RefSeq, Dec 2010]
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See CACNG5 in Genome Data Viewer
Location:
17q24.2
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (66835117..66894751)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (64831235..64881941)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene protein kinase C alpha Neighboring gene RNA, 5S ribosomal pseudogene 445 Neighboring gene microRNA 634 Neighboring gene RNA, 5S ribosomal pseudogene 446 Neighboring gene calcium voltage-gated channel auxiliary subunit gamma 4

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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Case-case genome-wide association analysis shows markers differentially associated with schizophrenia and bipolar disorder and implicates calcium channel genes.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC126656, MGC126682

Gene Ontology Provided by GOA

Function Evidence Code Pubs
channel regulator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ion transmembrane transporter activity TAS
Traceable Author Statement
more info
PubMed 
voltage-gated calcium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
voltage-gated calcium channel activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
calcium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
cardiac conduction TAS
Traceable Author Statement
more info
 
neurotransmitter receptor internalization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neurotransmitter receptor transport, postsynaptic endosome to lysosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of synaptic transmission, glutamatergic IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
postsynaptic neurotransmitter receptor diffusion trapping IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of AMPA receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of AMPA receptor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of postsynaptic neurotransmitter receptor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
transmission of nerve impulse IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
AMPA glutamate receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
AMPA glutamate receptor complex ISS
Inferred from Sequence or Structural Similarity
more info
 
glutamatergic synapse IMP
Inferred from Mutant Phenotype
more info
PubMed 
integral component of postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
postsynaptic density ISS
Inferred from Sequence or Structural Similarity
more info
 
postsynaptic density membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
postsynaptic density membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
voltage-dependent calcium channel gamma-5 subunit
Names
TARP gamma-5
calcium channel, voltage-dependent, gamma subunit 5
neuronal voltage-gated calcium channel gamma-5 subunit
transmembrane AMPAR regulatory protein gamma-5

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_001371476.1NP_001358405.1  voltage-dependent calcium channel gamma-5 subunit isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC005988, KF511234
    Related
    ENSP00000501267.1, ENST00000673855.1
  2. NM_145811.3NP_665810.1  voltage-dependent calcium channel gamma-5 subunit isoform 1

    See identical proteins and their annotated locations for NP_665810.1

    Status: REVIEWED

    Source sequence(s)
    AC005988, KF511234
    Consensus CDS
    CCDS11665.1
    UniProtKB/Swiss-Prot
    Q9UF02
    Related
    ENSP00000436836.1, ENST00000533854.6
    Conserved Domains (1) summary
    cl21598
    Location:9195
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    66835117..66894751
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_014404.1: Suppressed sequence

    Description
    NM_014404.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
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