Seroatlas · Human Serome Atlas

GABRA2

Gamma-aminobutyric acid receptor subunit alpha-2

Also known as: GBRA2_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
P47869
Gene
GABRA2
Ensembl
ENSG00000151834
Chromosome
4
Canonical length
451 aa
Protein class
Disease related genes, FDA approved drug targets, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins, Transporters
Subcellular location
Nucleoplasm,Plasma membrane
Secretome location
Intracellular and membrane

OverviewNCBI Gene

GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]

Canonical amino-acid sequenceUniProt

451 residues, UniProt reviewed canonical sequence.

>P47869|GABRA2
     1  MKTKLNIYNM QFLLFVFLVW DPARLVLANI QEDEAKNNIT IFTRILDRLL DGYDNRLRPG
    61  LGDSITEVFT NIYVTSFGPV SDTDMEYTID VFFRQKWKDE RLKFKGPMNI LRLNNLMASK
   121  IWTPDTFFHN GKKSVAHNMT MPNKLLRIQD DGTLLYTMRL TVQAECPMHL EDFPMDAHSC
   181  PLKFGSYAYT TSEVTYIWTY NASDSVQVAP DGSRLNQYDL LGQSIGKETI KSSTGEYTVM
   241  TAHFHLKRKI GYFVIQTYLP CIMTVILSQV SFWLNRESVP ARTVFGVTTV LTMTTLSISA
   301  RNSLPKVAYA TAMDWFIAVC YAFVFSALIE FATVNYFTKR GWAWDGKSVV NDKKKEKASV
   361  MIQNNAYAVA VANYAPNLSK DPVLSTISKS ATTPEPNKKP ENKPAEAKKT FNSVSKIDRM
   421  SRIVFPVLFG TFNLVYWATY LNREPVLGVS P

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GABRA2 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)
0.36
Highest tissue expression
37 nTPM

Expression across tissuesHPA

Tissue

  • cerebral cortex: 37 nTPM
  • basal ganglia: 28 nTPM
  • amygdala: 25 nTPM
  • hippocampal formation: 16 nTPM
  • hypothalamus: 9 nTPM
  • epididymis: 8.3 nTPM

Single-cell type

  • bergmann glia: 1,025 nCPM
  • astrocytes: 449 nCPM
  • brain inhibitory neurons: 258 nCPM
  • retinal amacrine cells: 228 nCPM
  • other brain neurons: 199 nCPM
  • brain excitatory neurons: 187 nCPM

Immune cell

  • basophil: 0.2 nTPM
  • neutrophil: 0.1 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM

Brain region

  • cerebral cortex: 97 nTPM
  • hippocampal formation: 92 nTPM
  • basal ganglia: 92 nTPM
  • amygdala: 72 nTPM
  • hypothalamus: 64 nTPM
  • white matter: 47 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GABRA2.

Disease | AllUniProt

Conditions GABRA2 is implicated in, by any mechanism.

Disease | GeneticClinVar

20 pathogenic / likely-pathogenic of 370 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
0.23
gnomAD pLI
1
gnomAD missense Z
3.13
DepMap mean gene effect
0.08
DepMap dependency class
none

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 GABRA2 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 GABRA2 as an antibody target. Whether an autoantibody or antibody against GABRA2 could matter depends on whether native GABRA2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

GABRA2 is annotated at the cell surface, where native GABRA2 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 GABRA2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/GABRA2. 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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