Seroatlas · Human Serome Atlas

GABRB2

Gamma-aminobutyric acid receptor subunit beta-2

Also known as: GBRB2_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
P47870
Gene
GABRB2
Ensembl
ENSG00000145864
Chromosome
5
Canonical length
512 aa
Protein class
Disease related genes, FDA approved drug targets, Human disease related genes, Predicted membrane proteins, Transporters

OverviewNCBI Gene

The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A receptor, beta 2 subunit. It is mapped to chromosome 5q34 in a cluster comprised of genes encoding alpha 1 and gamma 2 subunits of the GABA A receptor. Alternative splicing of this gene generates 2 transcript variants, differing by a 114 bp insertion. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

512 residues, UniProt reviewed canonical sequence.

>P47870|GABRB2
     1  MWRVRKRGYF GIWSFPLIIA AVCAQSVNDP SNMSLVKETV DRLLKGYDIR LRPDFGGPPV
    61  AVGMNIDIAS IDMVSEVNMD YTLTMYFQQA WRDKRLSYNV IPLNLTLDNR VADQLWVPDT
   121  YFLNDKKSFV HGVTVKNRMI RLHPDGTVLY GLRITTTAAC MMDLRRYPLD EQNCTLEIES
   181  YGYTTDDIEF YWRGDDNAVT GVTKIELPQF SIVDYKLITK KVVFSTGSYP RLSLSFKLKR
   241  NIGYFILQTY MPSILITILS WVSFWINYDA SAARVALGIT TVLTMTTINT HLRETLPKIP
   301  YVKAIDMYLM GCFVFVFMAL LEYALVNYIF FGRGPQRQKK AAEKAASANN EKMRLDVNKI
   361  FYKDIKQNGT QYRSLWDPTG NLSPTRRTTN YDFSLYTMDP HENILLSTLE IKNEMATSEA
   421  VMGLGDPRST MLAYDASSIQ YRKAGLPRHS FGRNALERHV AQKKSRLRRR ASQLKITIPD
   481  LTDVNAIDRW SRIFFPVVFS FFNIVYWLYY VN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GABRB2 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)
0.42
Highest tissue expression
41 nTPM

Expression across tissuesHPA

Tissue

  • cerebellum: 41 nTPM
  • cerebral cortex: 35 nTPM
  • hippocampal formation: 8.8 nTPM
  • basal ganglia: 8.4 nTPM
  • amygdala: 7.4 nTPM
  • retina: 6.1 nTPM

Single-cell type

  • brain excitatory neurons: 714 nCPM
  • respiratory ionocytes: 559 nCPM
  • brain inhibitory neurons: 495 nCPM
  • other brain neurons: 146 nCPM
  • epicardial cells: 143 nCPM
  • retinal ganglion cells: 112 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: 260 nTPM
  • cerebellum: 235 nTPM
  • white matter: 124 nTPM
  • hypothalamus: 93 nTPM
  • basal ganglia: 90 nTPM
  • hippocampal formation: 88 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GABRB2.

Disease | AllUniProt

Conditions GABRB2 is implicated in, by any mechanism.

  • Epileptic encephalopathy, infantile or early childhood, 2 (IECEE2) MIM:617829

Disease | GeneticClinVar

59 pathogenic / likely-pathogenic of 630 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)
0.39
gnomAD pLI
0.85
gnomAD missense Z
3.4
DepMap mean gene effect
0.01
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 GABRB2 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 GABRB2 as an antibody target. Whether an autoantibody or antibody against GABRB2 could matter depends on whether native GABRB2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

GABRB2 is annotated at the cell surface, where native GABRB2 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 GABRB2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/GABRB2. 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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