Seroatlas · Human Serome Atlas

CACNG2

Voltage-dependent calcium channel gamma-2 subunit

Also known as: CCG2_HUMAN, MGC138502, MGC138504, stargazin

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q9Y698
Gene
CACNG2
Ensembl
ENSG00000166862
Chromosome
22
Canonical length
323 aa
Protein class
Disease related genes, FDA approved drug targets, Human disease related genes, Predicted membrane proteins, Transporters

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

323 residues, UniProt reviewed canonical sequence.

>Q9Y698|CACNG2
     1  MGLFDRGVQM LLTTVGAFAA FSLMTIAVGT DYWLYSRGVC KTKSVSENET SKKNEEVMTH
    61  SGLWRTCCLE GNFKGLCKQI DHFPEDADYE ADTAEYFLRA VRASSIFPIL SVILLFMGGL
   121  CIAASEFYKT RHNIILSAGI FFVSAGLSNI IGIIVYISAN AGDPSKSDSK KNSYSYGWSF
   181  YFGALSFIIA EMVGVLAVHM FIDRHKQLRA TARATDYLQA SAITRIPSYR YRYQRRSRSS
   241  SRSTEPSHSR DASPVGIKGF NTLPSTEISM YTLSRDPLKA ATTPTATYNS DRDNSFLQVH
   301  NCIQKENKDS LHSNTANRRT TPV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CACNG2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Cell surface
Secreted
No
Transmembrane segments
4
Mean surface accessibility (rSASA)
0.47
Highest tissue expression
10 nTPM

Expression across tissuesHPA

Tissue

  • cerebellum: 10 nTPM
  • cerebral cortex: 8 nTPM
  • hypothalamus: 2.6 nTPM
  • retina: 2.6 nTPM
  • amygdala: 2 nTPM
  • basal ganglia: 1.8 nTPM

Single-cell type

  • retinal horizontal cells: 212 nCPM
  • corticotrophs: 174 nCPM
  • retinal amacrine cells: 164 nCPM
  • brain inhibitory neurons: 110 nCPM
  • retinal ganglion cells: 108 nCPM
  • brain excitatory neurons: 89 nCPM

Immune cell

  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM
  • MAIT T-cell: 0 nTPM

Brain region

  • cerebral cortex: 50 nTPM
  • cerebellum: 35 nTPM
  • white matter: 29 nTPM
  • pons: 19 nTPM
  • thalamus: 19 nTPM
  • hypothalamus: 18 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CACNG2.

Disease | AllUniProt

Conditions CACNG2 is implicated in, by any mechanism.

  • Intellectual developmental disorder, autosomal dominant 10 (MRD10) MIM:614256

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.38
gnomAD pLI
0.92
gnomAD missense Z
2.09
DepMap mean gene effect
-0.1
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of CACNG2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CACNG2 as an antibody target. Whether an autoantibody or antibody against CACNG2 could matter depends on whether native CACNG2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CACNG2 is annotated at the cell surface, where native CACNG2 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label CACNG2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/CACNG2. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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