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FLASH GENE

Symbol

GLRB

contributors: mct - updated : 27-08-2012

HGNC name	glycine receptor, beta
HGNC id	4329

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001166061 9 - 2783 NP_001159533 - 303 - 1998 9676428 NM_000824 10 - 3076 NP_000815 - 497 - 1998 9676428

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive liver       moderately Endocrine neuroendocrine pituitary     highly Nervous nerve       highly Respiratory lung       moderately Urinary kidney       moderately

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine   Epithelial secretory glandular exocrine

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)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       in hyperekplexia

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS