GABRR2
Gamma-aminobutyric acid receptor subunit rho-2
Also known as: GBRR2_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P28476
- Gene
- GABRR2
- Ensembl
- ENSG00000111886
- Chromosome
- 6
- Canonical length
- 465 aa
- Protein class
- Predicted membrane proteins
- Quaternary structure
- Homopentamer
OverviewNCBI Gene
Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA receptors, which are ligand-gated chloride channels. The protein encoded by this gene is a member of the rho subunit family and is a component of the GABA type A receptor complex. This gene exists on chromosome 6q next to the gene encoding the rho 1 subunit of the GABA type A receptor, in a region thought to be associated with susceptibility for psychiatric disorders and epilepsy. Polymorphisms in this gene may also be associated with alcohol dependence, and general cognitive ability. [provided by RefSeq, Apr 2016]
Canonical amino-acid sequenceUniProt
465 residues, UniProt reviewed canonical sequence.
>P28476|GABRR2
1 MPYFTRLILF LFCLMVLVES RKPKRKRWTG QVEMPKPSHL YKKNLDVTKI RKGKPQQLLR
61 VDEHDFSMRP AFGGPAIPVG VDVQVESLDS ISEVDMDFTM TLYLRHYWKD ERLAFSSASN
121 KSMTFDGRLV KKIWVPDVFF VHSKRSFTHD TTTDNIMLRV FPDGHVLYSM RITVTAMCNM
181 DFSHFPLDSQ TCSLELESYA YTDEDLMLYW KNGDESLKTD EKISLSQFLI QKFHTTSRLA
241 FYSSTGWYNR LYINFTLRRH IFFFLLQTYF PATLMVMLSW VSFWIDRRAV PARVSLGITT
301 VLTMTTIITG VNASMPRVSY VKAVDIYLWV SFVFVFLSVL EYAAVNYLTT VQERKERKLR
361 EKFPCMCGML HSKTMMLDGS YSESEANSLA GYPRSHILTE EERQDKIVVH LGLSGEANAA
421 RKKGLLKGQT GFRIFQNTHA IDKYSRLIFP ASYIFFNLIY WSVFSLocalizationUniProt · AlphaFold · HPA
Whether an antibody against GABRR2 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)
- 0.4
- Highest tissue expression
- 29 nTPM
Expression across tissuesHPA
Tissue
- retina: 29 nTPM
- spleen: 3.3 nTPM
- kidney: 1.6 nTPM
- lung: 1.6 nTPM
- small intestine: 1.4 nTPM
- heart muscle: 1.3 nTPM
Single-cell type
- retinal bipolar cells: 799 nCPM
- neutrophils: 61 nCPM
- plasma cells: 18 nCPM
- pdcs: 14 nCPM
- retinal horizontal cells: 14 nCPM
- retinal amacrine cells: 9 nCPM
Immune cell
- neutrophil: 0.3 nTPM
- basophil: 0.2 nTPM
- classical monocyte: 0.1 nTPM
- memory B-cell: 0.1 nTPM
- naive B-cell: 0.1 nTPM
- naive CD4 T-cell: 0.1 nTPM
Brain region
- cerebellum: 2.1 nTPM
- white matter: 2.1 nTPM
- cerebral cortex: 2 nTPM
- thalamus: 1.9 nTPM
- midbrain: 1.8 nTPM
- medulla oblongata: 1.7 nTPM
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)
- 0.89
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.3
- DepMap mean gene effect
- -0.04
- 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
- chemical synaptic transmission
- chloride transmembrane transport
- gamma-aminobutyric acid signaling pathway
- signal transduction
- synaptic transmission, GABAergic
- visual perception
Molecular functions
- GABA-A receptor activity
- GABA-gated chloride ion channel activity
- protein domain specific binding
- transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential
Cellular components
Protein domainsUniProt · Pfam · InterPro
- 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
- Gamma-aminobutyric-acid A receptor, Rho
- 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, Rho2
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of GABRR2 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 GABRR2 as an antibody target. Whether an autoantibody or antibody against GABRR2 could matter depends on whether native GABRR2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
GABRR2 is annotated at the cell surface, where native GABRR2 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 GABRR2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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