Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol GLRB contributors: mct - updated : 27-08-2012
HGNC name glycine receptor, beta
HGNC id 4329
Corresponding disease
STHE4 Startle disease, hyperekplexia 4
Location 4q32.1      Physical location : 157.997.276 - 158.093.242
Synonym symbol(s) GRB, HKPX2, GLYR, STHE4
DNA
TYPE functioning gene
STRUCTURE 95.97 kb     10 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Binding site
text structure Sp1 binding sites required for neural specific expression
MAPPING cloned Y linked N status confirmed
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
9 - 2783 - 303 - 1998 9676428
10 - 3076 - 497 - 1998 9676428
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver   moderately
Endocrineneuroendocrinepituitary  highly
Nervousnerve   highly
Respiratorylung   moderately
Urinarykidney   moderately
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialsecretoryglandularendocrine 
Epithelialsecretoryglandularexocrine 
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
mono polymer heteromer , pentamer
HOMOLOGY
interspecies homolog to murine Glrb
intraspecies homolog to GLRA1
Homologene
FAMILY ligand gated ionic channels family
CATEGORY signaling neurotransmitter , receptor membrane
SUBCELLULAR LOCALIZATION     plasma membrane
basic FUNCTION
  • essential for synaptic localization
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binds the trafficking proteins VPS35 and Neurobeachin (NBEA)
  • cell & other
    REGULATION
    Other regulation of GLRB dynamics by PKC thus contributes to the plasticity of inhibitory synapses and may be involved in maladaptive forms of synaptic plasticity
    ASSOCIATED DISORDERS
    corresponding disease(s) STHE4
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    in hyperekplexia
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS