Format

Send to:

Choose Destination

CACNG2 calcium voltage-gated channel auxiliary subunit gamma 2 [ Homo sapiens (human) ]

Gene ID: 10369, updated on 1-Jun-2020

Summary

Official Symbol
CACNG2provided by HGNC
Official Full Name
calcium voltage-gated channel auxiliary subunit gamma 2provided by HGNC
Primary source
HGNC:HGNC:1406
See related
Ensembl:ENSG00000166862 MIM:602911
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
MRD10
Summary
The protein encoded by this gene is a type I transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. The AMPA subtype of ionotropic glutamate receptors are ligand gated ion channels that are typically activated by glutamate released from presynaptic neuron terminals and mediate fast neurotransmission in excitatory synapses. TARPs thus play an important role in synaptic plasticity, learning and memory. Mutations in this gene cause an autosomal dominant form of cognitive disability. [provided by RefSeq, Jul 2017]
Expression
Restricted expression toward brain (RPKM 5.4) See more
Orthologs

Genomic context

See CACNG2 in Genome Data Viewer
Location:
22q12.3
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (36560857..36703752, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (36956916..37098690, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 pseudogene Neighboring gene eukaryotic translation initiation factor 3 subunit D Neighboring gene uncharacterized LOC105373021 Neighboring gene intraflagellar transport 27 Neighboring gene parvalbumin

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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ41437, MGC138502, MGC138504

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ionotropic glutamate receptor binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
voltage-gated calcium channel activity IBA
Inferred from Biological aspect of Ancestor
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
 
eye blink reflex IEA
Inferred from Electronic Annotation
more info
 
membrane depolarization TAS
Traceable Author Statement
more info
 
membrane hyperpolarization IEA
Inferred from Electronic Annotation
more info
 
neuromuscular junction development IEA
Inferred from Electronic Annotation
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 AMPA receptor activity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of protein localization to basolateral plasma membrane IEA
Inferred from Electronic Annotation
more info
 
postsynaptic neurotransmitter receptor diffusion trapping IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein targeting to membrane IEA
Inferred from Electronic Annotation
more info
 
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
 
response to calcium ion IEA
Inferred from Electronic Annotation
more info
 
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
 
Schaffer collateral - CA1 synapse IEA
Inferred from Electronic Annotation
more info
 
cell surface IEA
Inferred from Electronic Annotation
more info
 
cerebellar mossy fiber IEA
Inferred from Electronic Annotation
more info
 
cytosol IEA
Inferred from Electronic Annotation
more info
 
endocytic vesicle membrane TAS
Traceable Author Statement
more info
 
glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
hippocampal mossy fiber to CA3 synapse IEA
Inferred from Electronic Annotation
more info
 
integral component of postsynaptic density membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
postsynaptic density membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
somatodendritic compartment IEA
Inferred from Electronic Annotation
more info
 
voltage-gated calcium channel complex IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
voltage-dependent calcium channel gamma-2 subunit
Names
TARP gamma-2
neuronal voltage-gated calcium channel gamma-2 subunit
stargazin
transmembrane AMPAR regulatory protein gamma-2

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.

Genomic

  1. NG_031861.2 RefSeqGene

    Range
    5001..146990
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001379051.1NP_001365980.1  voltage-dependent calcium channel gamma-2 subunit isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL022313, AL031845, AL049749
  2. NM_006078.5NP_006069.1  voltage-dependent calcium channel gamma-2 subunit isoform 1

    See identical proteins and their annotated locations for NP_006069.1

    Status: REVIEWED

    Source sequence(s)
    AL022313, AL031845, AL049749
    Consensus CDS
    CCDS13931.1
    UniProtKB/Swiss-Prot
    Q9Y698
    Related
    ENSP00000300105.6, ENST00000300105.6
    Conserved Domains (1) summary
    pfam00822
    Location:6197
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

RNA

  1. NR_166440.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL022313, AL031845, AL049749

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_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    36560857..36703752 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017028531.2XP_016884020.1  voltage-dependent calcium channel gamma-2 subunit isoform X1

Support Center