Seroatlas · Human Serome Atlas

GABRG2

Gamma-aminobutyric acid receptor subunit gamma-2

Also known as: GBRG2_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
P18507
Gene
GABRG2
Ensembl
ENSG00000113327
Chromosome
5
Canonical length
475 aa
Protein class
Disease related genes, FDA approved drug targets, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins, Transporters

OverviewNCBI Gene

This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammlian brain, where it acts at GABA-A receptors, which are ligand-gated chloride channels. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene have been associated with epilepsy and febrile seizures. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

475 residues, UniProt reviewed canonical sequence.

>P18507|GABRG2
     1  MSSPNIWSTG SSVYSTPVFS QKMTVWILLL LSLYPGFTSQ KSDDDYEDYA SNKTWVLTPK
    61  VPEGDVTVIL NNLLEGYDNK LRPDIGVKPT LIHTDMYVNS IGPVNAINME YTIDIFFAQT
   121  WYDRRLKFNS TIKVLRLNSN MVGKIWIPDT FFRNSKKADA HWITTPNRML RIWNDGRVLY
   181  TLRLTIDAEC QLQLHNFPMD EHSCPLEFSS YGYPREEIVY QWKRSSVEVG DTRSWRLYQF
   241  SFVGLRNTTE VVKTTSGDYV VMSVYFDLSR RMGYFTIQTY IPCTLIVVLS WVSFWINKDA
   301  VPARTSLGIT TVLTMTTLST IARKSLPKVS YVTAMDLFVS VCFIFVFSAL VEYGTLHYFV
   361  SNRKPSKDKD KKKKNPLLRM FSFKAPTIDI RPRSATIQMN NATHLQERDE EYGYECLDGK
   421  DCASFFCCFE DCRTGAWRHG RIHIRIAKMD SYARIFFPTA FCLFNLVYWV SYLYL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GABRG2 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)
0.4
Highest tissue expression
41 nTPM

Expression across tissuesHPA

Tissue

  • cerebral cortex: 41 nTPM
  • cerebellum: 19 nTPM
  • hypothalamus: 13 nTPM
  • retina: 10 nTPM
  • basal ganglia: 9.5 nTPM
  • hippocampal formation: 4.8 nTPM

Single-cell type

  • brain excitatory neurons: 216 nCPM
  • brain inhibitory neurons: 205 nCPM
  • other brain neurons: 161 nCPM
  • retinal bipolar cells: 136 nCPM
  • corticotrophs: 105 nCPM
  • lactotrophs: 82 nCPM

Immune cell

  • basophil: 4.6 nTPM
  • memory B-cell: 1.6 nTPM
  • naive B-cell: 1.5 nTPM
  • naive CD4 T-cell: 1.5 nTPM
  • MAIT T-cell: 1.2 nTPM
  • neutrophil: 0.8 nTPM

Brain region

  • cerebral cortex: 72 nTPM
  • pons: 52 nTPM
  • hypothalamus: 51 nTPM
  • basal ganglia: 45 nTPM
  • white matter: 43 nTPM
  • hippocampal formation: 43 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GABRG2.

Disease | AllUniProt

Conditions GABRG2 is implicated in, by any mechanism.

  • Developmental and epileptic encephalopathy 74 (DEE74) MIM:618396
  • Epilepsy, childhood absence 2 (ECA2) MIM:607681
  • Febrile seizures, familial, 8 (FEB8) MIM:607681
  • Generalized epilepsy with febrile seizures plus 3 (GEFSP3) MIM:607681

Disease | GeneticClinVar

128 pathogenic / likely-pathogenic of 767 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Febrile seizures, familial, 8
  • EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2
  • Developmental and epileptic encephalopathy, 74
  • Inborn genetic diseases
  • Seizure

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)
0.4
gnomAD pLI
0.74
gnomAD missense Z
2.99
DepMap mean gene effect
0.18
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 GABRG2 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 GABRG2 as an antibody target. Whether an autoantibody or antibody against GABRG2 could matter depends on whether native GABRG2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

GABRG2 is annotated at the cell surface, where native GABRG2 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 GABRG2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/GABRG2. 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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