GLRB
Glycine receptor subunit beta
Also known as: GLRB_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P48167
- Gene
- GLRB
- Ensembl
- ENSG00000109738
- Chromosome
- 4
- Canonical length
- 497 aa
- Protein class
- Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters
OverviewNCBI Gene
This gene encodes the beta subunit of the glycine receptor, which is a pentamer composed of alpha and beta subunits. The receptor functions as a neurotransmitter-gated ion channel, which produces hyperpolarization via increased chloride conductance due to the binding of glycine to the receptor. Mutations in this gene cause startle disease, also known as hereditary hyperekplexia or congenital stiff-person syndrome, a disease characterized by muscular rigidity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
Canonical amino-acid sequenceUniProt
497 residues, UniProt reviewed canonical sequence.
>P48167|GLRB
1 MKFLLTTAFL ILISLWVEEA YSKEKSSKKG KGKKKQYLCP SQQSAEDLAR VPANSTSNIL
61 NRLLVSYDPR IRPNFKGIPV DVVVNIFINS FGSIQETTMD YRVNIFLRQK WNDPRLKLPS
121 DFRGSDALTV DPTMYKCLWK PDLFFANEKS ANFHDVTQEN ILLFIFRDGD VLVSMRLSIT
181 LSCPLDLTLF PMDTQRCKMQ LESFGYTTDD LRFIWQSGDP VQLEKIALPQ FDIKKEDIEY
241 GNCTKYYKGT GYYTCVEVIF TLRRQVGFYM MGVYAPTLLI VVLSWLSFWI NPDASAARVP
301 LGIFSVLSLA SECTTLAAEL PKVSYVKALD VWLIACLLFG FASLVEYAVV QVMLNNPKRV
361 EAEKARIAKA EQADGKGGNV AKKNTVNGTG TPVHISTLQV GETRCKKVCT SKSDLRSNDF
421 SIVGSLPRDF ELSNYDCYGK PIEVNNGLGK SQAKNNKKPP PAKPVIPTAA KRIDLYARAL
481 FPFCFLFFNV IYWSIYLLocalizationUniProt · AlphaFold · HPA
Whether an antibody against GLRB 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
- 41 nTPM
Expression across tissuesHPA
Tissue
- cerebral cortex: 41 nTPM
- parathyroid gland: 31 nTPM
- hypothalamus: 21 nTPM
- basal ganglia: 21 nTPM
- cerebellum: 20 nTPM
- salivary gland: 18 nTPM
Single-cell type
- oligodendrocyte progenitor cells: 142 nCPM
- brain inhibitory neurons: 133 nCPM
- brain excitatory neurons: 124 nCPM
- other brain neurons: 86 nCPM
- corticotrophs: 68 nCPM
- lactotrophs: 55 nCPM
Immune cell
- plasmacytoid DC: 0.2 nTPM
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
Brain region
- cerebral cortex: 90 nTPM
- basal ganglia: 49 nTPM
- hypothalamus: 43 nTPM
- white matter: 42 nTPM
- hippocampal formation: 39 nTPM
- pons: 38 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about GLRB.
Disease | AllUniProt
Conditions GLRB is implicated in, by any mechanism.
- Hyperekplexia 2 (HKPX2) MIM:614619
Disease | GeneticClinVar
23 pathogenic / likely-pathogenic of 458 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Hyperekplexia 2
- Gastric cancer
- Seizure
Disease | ImmuneIEDB
Conditions an epitope on GLRB was assayed in.
- ankylosing spondylitis T cell
- autoimmune uveitis T cell
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)
- 0.66
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.83
- DepMap mean gene effect
- 0.04
- DepMap dependency class
- none
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
- acrosome reaction
- adult walking behavior
- chemical synaptic transmission
- chloride transmembrane transport
- gamma-aminobutyric acid receptor clustering
- monoatomic ion transport
- nervous system development
- neuropeptide signaling pathway
- righting reflex
- startle response
- synaptic transmission, glycinergic
- visual perception
Molecular functions
- excitatory extracellular ligand-gated monoatomic ion channel activity
- extracellularly glycine-gated chloride channel activity
- glycine binding
- protein-containing complex binding
- transmembrane signaling receptor activity
- transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential
- extracellularly glycine-gated ion channel activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- 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
- Glycine receptor beta
- Glycine receptor subunit beta, transmembrane domain
- Glycine receptor subunit beta, extracellular domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of GLRB 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 GLRB as an antibody target. Whether an autoantibody or antibody against GLRB could matter depends on whether native GLRB is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
GLRB is annotated at the cell surface, where native GLRB 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 GLRB as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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