Seroatlas · Human Serome Atlas

GABRD

Gamma-aminobutyric acid receptor subunit delta

Also known as: GBRD_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
O14764
Gene
GABRD
Ensembl
ENSG00000187730
Chromosome
1
Canonical length
452 aa
Protein class
Disease related genes, FDA approved drug targets, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location
Golgi apparatus,Vesicles

OverviewNCBI Gene

Gamma-aminobutyric acid (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. The GABA-A receptor is generally pentameric and there are five types of subunits: alpha, beta, gamma, delta, and rho. This gene encodes the delta subunit. Mutations in this gene have been associated with susceptibility to generalized epilepsy with febrile seizures, type 5. Alternatively spliced transcript variants have been described for this gene, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

452 residues, UniProt reviewed canonical sequence.

>O14764|GABRD
     1  MDAPARLLAP LLLLCAQQLR GTRAMNDIGD YVGSNLEISW LPNLDGLIAG YARNFRPGIG
    61  GPPVNVALAL EVASIDHISE ANMEYTMTVF LHQSWRDSRL SYNHTNETLG LDSRFVDKLW
   121  LPDTFIVNAK SAWFHDVTVE NKLIRLQPDG VILYSIRITS TVACDMDLAK YPMDEQECML
   181  DLESYGYSSE DIVYYWSESQ EHIHGLDKLQ LAQFTITSYR FTTELMNFKS AGQFPRLSLH
   241  FHLRRNRGVY IIQSYMPSVL LVAMSWVSFW ISQAAVPARV SLGITTVLTM TTLMVSARSS
   301  LPRASAIKAL DVYFWICYVF VFAALVEYAF AHFNADYRKK QKAKVKVSRP RAEMDVRNAI
   361  VLFSLSAAGV TQELAISRRQ RRVPGNLMGS YRSVGVETGE TKKEGAARSG GQGGIRARLR
   421  PIDADTIDIY ARAVFPAAFA AVNVIYWAAY AM

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GABRD 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)
0.38
Highest tissue expression
274 nTPM

Expression across tissuesHPA

Tissue

  • cerebellum: 274 nTPM
  • cerebral cortex: 91 nTPM
  • basal ganglia: 51 nTPM
  • amygdala: 28 nTPM
  • hippocampal formation: 19 nTPM
  • midbrain: 9.7 nTPM

Single-cell type

  • brain excitatory neurons: 76 nCPM
  • brain inhibitory neurons: 34 nCPM
  • retinal amacrine cells: 19 nCPM
  • differentiating spermatogonia: 19 nCPM
  • undifferentiated spermatogonia: 14 nCPM
  • bergmann glia: 14 nCPM

Immune cell

  • plasmacytoid DC: 0.1 nTPM
  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM

Brain region

  • cerebellum: 109 nTPM
  • cerebral cortex: 90 nTPM
  • thalamus: 68 nTPM
  • pons: 47 nTPM
  • midbrain: 41 nTPM
  • basal ganglia: 40 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GABRD.

Disease | AllUniProt

Conditions GABRD is implicated in, by any mechanism.

  • Generalized epilepsy with febrile seizures plus 5 (GEFSP5) MIM:613060
  • Epilepsy, idiopathic generalized 10 (EIG10) MIM:613060

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 470 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)
0.25
gnomAD pLI
0.99
gnomAD missense Z
2.17
DepMap mean gene effect
0
DepMap dependency class
selective

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

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

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