GLRA2
Glycine receptor subunit alpha-2
Also known as: GLR, GLRA2_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P23416
- Gene
- GLRA2
- Ensembl
- ENSG00000101958
- Chromosome
- X
- Canonical length
- 452 aa
- Protein class
- Disease related genes, FDA approved drug targets, Predicted membrane proteins, Transporters
- Subcellular location
- Vesicles,Plasma membrane
- Quaternary structure
- Homopentamer
OverviewNCBI Gene
The glycine receptor consists of two subunits, alpha and beta, and acts as a pentamer. The protein encoded by this gene is an alpha subunit and can bind strychnine. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]
Canonical amino-acid sequenceUniProt
452 residues, UniProt reviewed canonical sequence.
>P23416|GLRA2
1 MNRQLVNILT ALFAFFLETN HFRTAFCKDH DSRSGKQPSQ TLSPSDFLDK LMGRTSGYDA
61 RIRPNFKGPP VNVTCNIFIN SFGSVTETTM DYRVNIFLRQ QWNDSRLAYS EYPDDSLDLD
121 PSMLDSIWKP DLFFANEKGA NFHDVTTDNK LLRISKNGKV LYSIRLTLTL SCPMDLKNFP
181 MDVQTCTMQL ESFGYTMNDL IFEWLSDGPV QVAEGLTLPQ FILKEEKELG YCTKHYNTGK
241 FTCIEVKFHL ERQMGYYLIQ MYIPSLLIVI LSWVSFWINM DAAPARVALG ITTVLTMTTQ
301 SSGSRASLPK VSYVKAIDIW MAVCLLFVFA ALLEYAAVNF VSRQHKEFLR LRRRQKRQNK
361 EEDVTRESRF NFSGYGMGHC LQVKDGTAVK ATPANPLPQP PKDGDAIKKK FVDRAKRIDT
421 ISRAAFPLAF LIFNIFYWIT YKIIRHEDVH KKLocalizationUniProt · AlphaFold · HPA
Whether an antibody against GLRA2 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)
- 0.36
- Highest tissue expression
- 8.9 nTPM
Expression across tissuesHPA
Tissue
- cerebellum: 8.9 nTPM
- hypothalamus: 8.8 nTPM
- amygdala: 3.6 nTPM
- cerebral cortex: 3.1 nTPM
- basal ganglia: 3 nTPM
- retina: 3 nTPM
Single-cell type
- retinal amacrine cells: 177 nCPM
- retinal ganglion cells: 70 nCPM
- retinal horizontal cells: 66 nCPM
- other brain neurons: 62 nCPM
- brain excitatory neurons: 60 nCPM
- brain inhibitory neurons: 58 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
- midbrain: 39 nTPM
- hypothalamus: 33 nTPM
- pons: 20 nTPM
- cerebellum: 10 nTPM
- spinal cord: 9.6 nTPM
- medulla oblongata: 9.3 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about GLRA2.
Disease | AllUniProt
Conditions GLRA2 is implicated in, by any mechanism.
- Intellectual developmental disorder, X-linked, syndromic, Pilorge type (MRXSP) MIM:301076
Disease | GeneticClinVar
10 pathogenic / likely-pathogenic of 138 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Intellectual developmental disorder, X-linked, syndromic, Pilorge type
- See cases
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)
- 0.3
- gnomAD pLI
- 0.97
- gnomAD missense Z
- 2.7
- DepMap mean gene effect
- 0.07
- DepMap dependency class
- selective
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
- cellular response to amino acid stimulus
- cellular response to ethanol
- cellular response to zinc ion
- chloride transmembrane transport
- modulation of chemical synaptic transmission
- monoatomic ion transmembrane transport
- neuropeptide signaling pathway
Molecular functions
- excitatory extracellular ligand-gated monoatomic ion channel activity
- extracellularly glycine-gated chloride channel activity
- glycine binding
- glycine-gated chloride ion channel activity
- metal ion binding
- transmembrane signaling receptor activity
- 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
- Glycine receptor alpha
- 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
- Glycine receptor alpha2
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of GLRA2 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 GLRA2 as an antibody target. Whether an autoantibody or antibody against GLRA2 could matter depends on whether native GLRA2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
GLRA2 is annotated at the cell surface, where native GLRA2 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 GLRA2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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