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

Gene ID: 10369, updated on 13-May-2022

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; AllianceGenome:HGNC:1406
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
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Genomic context

See CACNG2 in Genome Data Viewer
Location:
22q12.3
Exon count:
6
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (36560857..36703752, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (37021025..37164438, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (36956904..37099797, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene eukaryotic translation initiation factor 3 subunit D Neighboring gene HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 pseudogene Neighboring gene CACNG2 divergent transcript Neighboring gene uncharacterized LOC124905112 Neighboring gene intraflagellar transport 27

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
enables channel regulator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables ionotropic glutamate receptor binding IEA
Inferred from Electronic Annotation
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
PubMed 
Process Evidence Code Pubs
involved_in calcium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
involved_in eye blink reflex IEA
Inferred from Electronic Annotation
more info
 
involved_in membrane depolarization IEA
Inferred from Electronic Annotation
more info
 
involved_in membrane hyperpolarization IEA
Inferred from Electronic Annotation
more info
 
involved_in neuromuscular junction development IEA
Inferred from Electronic Annotation
more info
 
involved_in neurotransmitter receptor internalization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
involved_in positive regulation of AMPA receptor activity IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of protein localization to basolateral plasma membrane IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of synaptic transmission, glutamatergic IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in postsynaptic neurotransmitter receptor diffusion trapping IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in protein targeting to membrane IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of AMPA receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of AMPA receptor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in response to calcium ion IEA
Inferred from Electronic Annotation
more info
 
involved_in transmission of nerve impulse IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
part_of AMPA glutamate receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of AMPA glutamate receptor complex ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in Schaffer collateral - CA1 synapse IEA
Inferred from Electronic Annotation
more info
 
located_in cell surface IEA
Inferred from Electronic Annotation
more info
 
located_in cerebellar mossy fiber IEA
Inferred from Electronic Annotation
more info
 
located_in cytosol IEA
Inferred from Electronic Annotation
more info
 
located_in endocytic vesicle membrane TAS
Traceable Author Statement
more info
 
located_in glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
located_in hippocampal mossy fiber to CA3 synapse IEA
Inferred from Electronic Annotation
more info
 
located_in integral component of postsynaptic density membrane 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
PubMed 
located_in somatodendritic compartment IEA
Inferred from Electronic Annotation
more info
 
part_of 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)

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.

Genomic

  1. NG_031861.2 RefSeqGene

    Range
    4107..147002
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1159

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
    Conserved Domains (1) summary
    cl21598
    Location:1174
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
  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, ENST00000300105.7
    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 Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017028531.3XP_016884020.1  voltage-dependent calcium channel gamma-2 subunit isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    37021025..37164438 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)