Seroatlas · Human Serome Atlas

GABRB3

Gamma-aminobutyric acid receptor subunit beta-3

Also known as: GBRB3_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
P28472
Gene
GABRB3
Ensembl
ENSG00000166206
Chromosome
15
Canonical length
473 aa
Protein class
Disease related genes, FDA approved drug targets, Human disease related genes, Predicted membrane proteins, Transporters
Quaternary structure
Homopentamer

OverviewNCBI Gene

This gene encodes a member of the ligand-gated ionic channel family. The encoded protein is one the subunits of a multi-subunit chloride channel that serves as the receptor for gamma-aminobutyric acid, a major inhibitory neurotransmitter of the mammalian nervous system. This gene is located on the long arm of chromosome 15 in a cluster with two other genes encoding related subunits of the family. This gene may be associated with the pathogenesis of several disorders including Angelman syndrome, Prader-Willi syndrome, nonsyndromic orofacial clefts, epilepsy and autism. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2013]

Canonical amino-acid sequenceUniProt

473 residues, UniProt reviewed canonical sequence.

>P28472|GABRB3
     1  MWGLAGGRLF GIFSAPVLVA VVCCAQSVND PGNMSFVKET VDKLLKGYDI RLRPDFGGPP
    61  VCVGMNIDIA SIDMVSEVNM DYTLTMYFQQ YWRDKRLAYS GIPLNLTLDN RVADQLWVPD
   121  TYFLNDKKSF VHGVTVKNRM IRLHPDGTVL YGLRITTTAA CMMDLRRYPL DEQNCTLEIE
   181  SYGYTTDDIE FYWRGGDKAV TGVERIELPQ FSIVEHRLVS RNVVFATGAY PRLSLSFRLK
   241  RNIGYFILQT YMPSILITIL SWVSFWINYD ASAARVALGI TTVLTMTTIN THLRETLPKI
   301  PYVKAIDMYL MGCFVFVFLA LLEYAFVNYI FFGRGPQRQK KLAEKTAKAK NDRSKSESNR
   361  VDAHGNILLT SLEVHNEMNE VSGGIGDTRN SAISFDNSGI QYRKQSMPRE GHGRFLGDRS
   421  LPHKKTHLRR RSSQLKIKIP DLTDVNAIDR WSRIVFPFTF SLFNLVYWLY YVN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GABRB3 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)
0.39
Highest tissue expression
44 nTPM

Expression across tissuesHPA

Tissue

  • cerebral cortex: 44 nTPM
  • retina: 28 nTPM
  • gallbladder: 13 nTPM
  • basal ganglia: 8.1 nTPM
  • thyroid gland: 8 nTPM
  • cerebellum: 7.7 nTPM

Single-cell type

  • retinal bipolar cells: 2,411 nCPM
  • corticotrophs: 800 nCPM
  • thyrotrophs: 733 nCPM
  • brain excitatory neurons: 650 nCPM
  • brain inhibitory neurons: 613 nCPM
  • gonadotrophs: 508 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: 81 nTPM
  • hippocampal formation: 71 nTPM
  • basal ganglia: 65 nTPM
  • hypothalamus: 59 nTPM
  • white matter: 47 nTPM
  • amygdala: 40 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GABRB3.

Disease | AllUniProt

Conditions GABRB3 is implicated in, by any mechanism.

  • Epilepsy, childhood absence 5 (ECA5) MIM:612269
  • Developmental and epileptic encephalopathy 43 (DEE43) MIM:617113

Disease | GeneticClinVar

102 pathogenic / likely-pathogenic of 775 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)
0.34
gnomAD pLI
0.95
gnomAD missense Z
3.39
DepMap mean gene effect
-0.03
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% 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 GABRB3 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 GABRB3 as an antibody target. Whether an autoantibody or antibody against GABRB3 could matter depends on whether native GABRB3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

GABRB3 is annotated at the cell surface, where native GABRB3 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 GABRB3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/GABRB3. 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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