InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: GLRB

Summary

InnateDB Gene

IDBG-42580.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

GLRB

Gene Name

glycine receptor, beta

Synonyms

HKPX2

Species

Homo sapiens

Ensembl Gene

ENSG00000109738

Encoded Proteins

IDBP-42582

glycine receptor, beta

IDBP-481773

glycine receptor, beta

IDBP-475791

glycine receptor, beta

IDBP-476942

glycine receptor, beta

IDBP-484170

glycine receptor, beta

IDBP-588480

glycine receptor, beta

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 4:157076057-157172090

Strand

Forward strand

Band

q32.1

Transcripts

ENST00000264428	ENSP00000264428
ENST00000515642	ENSP00000421044
ENST00000512619	ENSP00000425433
ENST00000506411	ENSP00000422039
ENST00000509282	ENSP00000427186
ENST00000510970
ENST00000541722	ENSP00000441873

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	1 [view]
Protein-Protein	1 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005230	extracellular ligand-gated ion channel activity
GO:0005488	binding
GO:0005515	protein binding
GO:0016594	glycine binding
GO:0016933	extracellular-glycine-gated ion channel activity
GO:0016934	extracellular-glycine-gated chloride channel activity

Biological Process

GO:0001964	startle response
GO:0006810	transport
GO:0006811	ion transport
GO:0007218	neuropeptide signaling pathway
GO:0007268	synaptic transmission
GO:0007340	acrosome reaction
GO:0007399	nervous system development
GO:0007601	visual perception
GO:0007628	adult walking behavior
GO:0034220	ion transmembrane transport
GO:0042391	regulation of membrane potential
GO:0050905	neuromuscular process
GO:0051291	protein heterooligomerization
GO:0055085	transmembrane transport
GO:0060012	synaptic transmission, glycinergic
GO:0060013	righting reflex
GO:1902476	chloride transmembrane transport

Cellular Component

GO:0005886	plasma membrane
GO:0005887	integral component of plasma membrane
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0030054	cell junction
GO:0034707	chloride channel complex
GO:0045211	postsynaptic membrane

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000028020

View Gene Order

ENSBTAG00000021764

Not yet available

Pathways

NETPATH

REACTOME

REACT_25387

Ligand-gated ion channel transport pathway

REACT_15518

Transmembrane transport of small molecules pathway

REACT_25300

Ion channel transport pathway

KEGG

hsa04080

Neuroactive ligand-receptor interaction pathway

INOH

PID NCI

Cross-References

SwissProt

TrEMBL

D6RD86

UniProt Splice Variant

Entrez Gene

2743

UniGene

Hs.32973

RefSeq

NM_000824 NM_001166060 NM_001166061

HUGO

HGNC:4329

OMIM

138492

CCDS

CCDS3796 CCDS54813

HPRD

11751

IMGT

EMBL

AC079403

GenPept

RNA Seq Atlas

2743