GABRG3
Gamma-aminobutyric acid receptor subunit gamma-3
Also known as: GBRG3_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q99928
- Gene
- GABRG3
- Ensembl
- ENSG00000182256
- Chromosome
- 15
- Canonical length
- 467 aa
- Protein class
- FDA approved drug targets, Predicted intracellular proteins, Predicted membrane proteins
- Subcellular location
- Nucleoli,Plasma membrane,Microtubules
OverviewNCBI Gene
This gene encodes a gamma-aminobutyric acid (GABA) receptor. 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. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. The protein encoded by this gene is a gamma subunit, which contains the benzodiazepine binding site. Two transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Aug 2012]
Canonical amino-acid sequenceUniProt
467 residues, UniProt reviewed canonical sequence.
>Q99928|GABRG3
1 MAPKLLLLLC LFSGLHARSR KVEEDEYEDS SSNQKWVLAP KSQDTDVTLI LNKLLREYDK
61 KLRPDIGIKP TVIDVDIYVN SIGPVSSINM EYQIDIFFAQ TWTDSRLRFN STMKILTLNS
121 NMVGLIWIPD TIFRNSKTAE AHWITTPNQL LRIWNDGKIL YTLRLTINAE CQLQLHNFPM
181 DEHSCPLIFS SYGYPKEEMI YRWRKNSVEA ADQKSWRLYQ FDFMGLRNTT EIVTTSAGDY
241 VVMTIYFELS RRMGYFTIQT YIPCILTVVL SWVSFWIKKD ATPARTALGI TTVLTMTTLS
301 TIARKSLPRV SYVTAMDLFV TVCFLFVFAA LMEYATLNYY SSCRKPTTTK KTTSLLHPDS
361 SRWIPERISL QAPSNYSLLD MRPPPTAMIT LNNSVYWQEF EDTCVYECLD GKDCQSFFCC
421 YEECKSGSWR KGRIHIDILE LDSYSRVFFP TSFLLFNLVY WVGYLYLLocalizationUniProt · AlphaFold · HPA
Whether an antibody against GABRG3 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
- 25 nTPM
Expression across tissuesHPA
Tissue
- retina: 25 nTPM
- testis: 8.6 nTPM
- prostate: 6.2 nTPM
- hypothalamus: 3.2 nTPM
- pituitary gland: 2.8 nTPM
- cerebral cortex: 2.4 nTPM
Single-cell type
- müller glia: 1,541 nCPM
- bergmann glia: 908 nCPM
- thyrotrophs: 729 nCPM
- other brain neurons: 683 nCPM
- brain inhibitory neurons: 525 nCPM
- prostatic glandular cells: 482 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: 57 nTPM
- cerebral cortex: 27 nTPM
- basal ganglia: 25 nTPM
- white matter: 24 nTPM
- pons: 16 nTPM
- medulla oblongata: 14 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about GABRG3.
Disease | GeneticClinVar
1 pathogenic / likely-pathogenic of 57 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
- 2.52
- DepMap mean gene effect
- 0.07
- 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
- chloride transmembrane transport
- gamma-aminobutyric acid signaling pathway
- inhibitory synapse assembly
- response to xenobiotic stimulus
- synaptic transmission, GABAergic
Molecular functions
- GABA-A receptor activity
- GABA-gated chloride ion channel activity
- transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Gamma-aminobutyric acid receptor subunit gamma-1/4
- Gamma-aminobutyric acid A receptor/Glycine receptor alpha
- Neurotransmitter-gated ion-channel transmembrane domain
- Neurotransmitter-gated ion-channel
- Neurotransmitter-gated ion-channel ligand-binding domain
- Neurotransmitter-gated ion-channel, conserved site
- Neurotransmitter-gated ion-channel transmembrane domain superfamily
- Neurotransmitter-gated ion-channel ligand-binding domain superfamily
- Neuronal acetylcholine receptor
- Neurotransmitter-gated ion-channel ligand binding domain
- Neurotransmitter-gated ion-channel transmembrane region
- Gamma-aminobutyric-acid A receptor, gamma 3 subunit
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads GABRG3 as an antibody target. Whether an autoantibody or antibody against GABRG3 could matter depends on whether native GABRG3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
GABRG3 is annotated at the cell surface, where native GABRG3 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 GABRG3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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