Seroatlas · Human Serome Atlas

GABRE

Gamma-aminobutyric acid receptor subunit epsilon

Also known as: GBRE_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
P78334
Gene
GABRE
Ensembl
ENSG00000102287
Chromosome
X
Canonical length
506 aa
Protein class
FDA approved drug targets, Predicted membrane proteins

OverviewNCBI Gene

The product of this gene belongs to the ligand-gated ionic channel (TC 1.A.9) family. It encodes the gamma-aminobutyric acid (GABA) A receptor which is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes an epsilon subunit. It is mapped to chromosome Xq28 in a cluster comprised of genes encoding alpha 3, beta 4 and theta subunits of the same receptor. Alternatively spliced transcript variants have been identified, but only one is thought to encode a protein. [provided by RefSeq, Oct 2008]

Canonical amino-acid sequenceUniProt

506 residues, UniProt reviewed canonical sequence.

>P78334|GABRE
     1  MLSKVLPVLL GILLILQSRV EGPQTESKNE ASSRDVVYGP QPQPLENQLL SEETKSTETE
    61  TGSRVGKLPE ASRILNTILS NYDHKLRPGI GEKPTVVTVE ISVNSLGPLS ILDMEYTIDI
   121  IFSQTWYDER LCYNDTFESL VLNGNVVSQL WIPDTFFRNS KRTHEHEITM PNQMVRIYKD
   181  GKVLYTIRMT IDAGCSLHML RFPMDSHSCP LSFSSFSYPE NEMIYKWENF KLEINEKNSW
   241  KLFQFDFTGV SNKTEIITTP VGDFMVMTIF FNVSRRFGYV AFQNYVPSSV TTMLSWVSFW
   301  IKTESAPART SLGITSVLTM TTLGTFSRKN FPRVSYITAL DFYIAICFVF CFCALLEFAV
   361  LNFLIYNQTK AHASPKLRHP RINSRAHART RARSRACARQ HQEAFVCQIV TTEGSDGEER
   421  PSCSAQQPPS PGSPEGPRSL CSKLACCEWC KRFKKYFCMV PDCEGSTWQQ GRLCIHVYRL
   481  DNYSRVVFPV TFFFFNVLYW LVCLNL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GABRE 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)
0.41
Highest tissue expression
14 nTPM

Expression across tissuesHPA

Tissue

  • hypothalamus: 14 nTPM
  • adipose tissue: 9.1 nTPM
  • heart muscle: 8.9 nTPM
  • breast: 4.2 nTPM
  • seminal vesicle: 3.2 nTPM
  • placenta: 3.1 nTPM

Single-cell type

  • adipocytes: 398 nCPM
  • pituicytes/fscs: 108 nCPM
  • syncytiotrophoblasts: 106 nCPM
  • prostatic hillock cells: 89 nCPM
  • basal prostatic cells: 71 nCPM
  • endometrial glandular cells: 51 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

  • hypothalamus: 104 nTPM
  • midbrain: 82 nTPM
  • pons: 74 nTPM
  • cerebral cortex: 33 nTPM
  • basal ganglia: 14 nTPM
  • medulla oblongata: 12 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GABRE.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 147 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)
1.02
gnomAD pLI
0
gnomAD missense Z
-0.07
DepMap mean gene effect
0.19
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% 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

Antibody and autoantibody relevanceSeroatlas analysis

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

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

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