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Aliases for GLRB Gene

Aliases for GLRB Gene

  • Glycine Receptor, Beta 2 3
  • Glycine Receptor 58 KDa Subunit 3 4
  • HKPX2 3 6
  • Glycine Receptor, Beta Subunit 3
  • Glycine Receptor Subunit Beta 3

External Ids for GLRB Gene

Summaries for GLRB Gene

Entrez Gene Summary for GLRB 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]

GeneCards Summary for GLRB Gene

GLRB (Glycine Receptor, Beta) is a Protein Coding gene. Diseases associated with GLRB include glrb-related hyperekplexia and hyperekplexia 2, autosomal recessive. Among its related pathways are Ion channel transport and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include glycine binding and extracellular-glycine-gated ion channel activity. An important paralog of this gene is GABRR1.

UniProtKB/Swiss-Prot for GLRB Gene

  • The glycine receptor is a neurotransmitter-gated ion channel. Binding of glycine to its receptor increases the chloride conductance and thus produces hyperpolarization (inhibition of neuronal firing)

Tocris Summary for GLRB Gene

  • Glycine receptors (GlyR) are members of the cys-loop family of ligand-gated ion channels, responsible for mediating the inhibitory effects of glycine. They are widely distributed throughout the CNS, particularly within the hippocampus, spinal cord and brain stem. Glycine receptors exist as pentameric proteins, homo-oligomers of the alpha isoforms (alpha1, alpha2, alpha3 or alpha4) or hetero-oligomers which also contain the beta-subtype variant (beta1) which is essential for targeting the receptor to the synapse. Glycine receptors contain an integral chloride channel, and have modulatory sites for anesthetics, neurosteroids, cannabinoids and ethanol. Disruption in glycine receptor expression or ion channel function can result in hyperekplexia, a rare neurological disorder.

Gene Wiki entry for GLRB Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GLRB Gene

Genomics for GLRB Gene

Genomic Location for GLRB Gene

Start:
157,076,057 bp from pter
End:
157,172,090 bp from pter
Size:
96,034 bases
Orientation:
Plus strand

Genomic View for GLRB Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GLRB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GLRB Gene

Regulatory Elements for GLRB Gene

Proteins for GLRB Gene

  • Protein details for GLRB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P48167-GLRB_HUMAN
    Recommended name:
    Glycine receptor subunit beta
    Protein Accession:
    P48167
    Secondary Accessions:
    • A8K3K2
    • D3DP23
    • F5GWE1

    Protein attributes for GLRB Gene

    Size:
    497 amino acids
    Molecular mass:
    56122 Da
    Quaternary structure:
    • Interacts with GPHN (By similarity). Pentamer composed of three alpha and two beta subunits.

    Alternative splice isoforms for GLRB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GLRB Gene

Proteomics data for GLRB Gene at MOPED

Post-translational modifications for GLRB Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys198 and Lys440
  • Glycosylation at Asn54 and Asn242

Other Protein References for GLRB Gene

No data available for DME Specific Peptides for GLRB Gene

Domains for GLRB Gene

Gene Families for GLRB Gene

UniProtKB/Swiss-Prot:

GLRB_HUMAN
Family:
  • Belongs to the ligand-gated ion channel (TC 1.A.9) family. Glycine receptor (TC 1.A.9.3) subfamily. GLRB sub-subfamily.:
    • P48167
genes like me logo Genes that share domains with GLRB: view

Function for GLRB Gene

Molecular function for GLRB Gene

GENATLAS Biochemistry: glycine receptor,beta subunit
UniProtKB/Swiss-Prot Function: The glycine receptor is a neurotransmitter-gated ion channel. Binding of glycine to its receptor increases the chloride conductance and thus produces hyperpolarization (inhibition of neuronal firing)

Gene Ontology (GO) - Molecular Function for GLRB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005230 extracellular ligand-gated ion channel activity --
GO:0005515 protein binding IPI 11929858
GO:0008144 drug binding IEA --
GO:0016594 contributes_to glycine binding IMP 15748848
GO:0016933 extracellular-glycine-gated ion channel activity IMP 11929858
genes like me logo Genes that share ontologies with GLRB: view
genes like me logo Genes that share phenotypes with GLRB: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for GLRB Gene

Localization for GLRB Gene

Subcellular locations from UniProtKB/Swiss-Prot for GLRB Gene

Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GLRB Gene COMPARTMENTS Subcellular localization image for GLRB gene
Compartment Confidence
plasma membrane 5
extracellular 1
nucleus 1

Gene Ontology (GO) - Cellular Components for GLRB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane NAS 8717357
GO:0016020 membrane --
GO:0016021 integral component of membrane --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with GLRB: view

Pathways for GLRB Gene

genes like me logo Genes that share pathways with GLRB: view

Pathways by source for GLRB Gene

1 GeneGo (Thomson Reuters Life Sciences Research) pathway for GLRB Gene
1 KEGG pathway for GLRB Gene

Gene Ontology (GO) - Biological Process for GLRB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001964 startle response IMP 11929858
GO:0006810 transport --
GO:0006811 ion transport IDA 8717357
GO:0007218 neuropeptide signaling pathway IDA 8717357
GO:0007268 synaptic transmission IMP 11929858
genes like me logo Genes that share ontologies with GLRB: view

Compounds for GLRB Gene

(5) Tocris Compounds for GLRB Gene

Compound Action Cas Number
beta-Alanine Endogenous glycine agonist, more selective than taurine (Cat. No. 0209) [107-95-9]
Hypotaurine Non-selective endogenous glycine receptor agonist [300-84-5]
L-Alanine Glycine receptor agonist [56-41-7]
L-Serine Weak endogenous glycine receptor agonist [56-45-1]
Taurine Non-selective, endogenous glycine receptor partial agonist [107-35-7]

(2) HMDB Compounds for GLRB Gene

Compound Synonyms Cas Number PubMed IDs
Chlorine
  • Cl2
16887-00-6
Glycine
  • 2-Aminoacetate
56-40-6

(2) Drugbank Compounds for GLRB Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Glycine
  • 2-Aminoacetic acid
56-40-6 target
Lindane
  • Benzene hexachloride
58-89-9 target antagonist

(11) IUPHAR Ligand for GLRB Gene

Ligand Type Action Affinity Pubmed IDs
picrotoxinin Channel blocker None 6.4
Zn2+ Channel blocker None 6
ginkgolide X Antagonist Antagonist 5.6
ginkgolide B Channel blocker None 5.4
bilobalide Antagonist Antagonist 5.1
tropisetron Antagonist Antagonist 4.9
picrotin Channel blocker None 4.9
cyanotriphenylborate Channel blocker None 4.7
pregnenolone sulphate Activator None
nifedipine Activator None
picrotoxin Channel blocker None

(1) Novoseek inferred chemical compound relationships for GLRB Gene

Compound -log(P) Hits PubMed IDs
nmda 18 1
genes like me logo Genes that share compounds with GLRB: view

Transcripts for GLRB Gene

Unigene Clusters for GLRB Gene

Glycine receptor, beta:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GLRB Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b · 11c
SP1: -
SP2:
SP3: -
SP4: - - - - - - - -

Relevant External Links for GLRB Gene

GeneLoc Exon Structure for
GLRB
ECgene alternative splicing isoforms for
GLRB

Expression for GLRB Gene

mRNA expression in normal human tissues for GLRB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GLRB Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (6.7), Brain - Anterior cingulate cortex (BA24) (5.8), and Brain - Cortex (4.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for GLRB Gene

SOURCE GeneReport for Unigene cluster for GLRB Gene Hs.32973

genes like me logo Genes that share expressions with GLRB: view

Orthologs for GLRB Gene

This gene was present in the common ancestor of animals.

Orthologs for GLRB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GLRB 36
  • 99.6 (n)
  • 99.8 (a)
GLRB 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GLRB 36
  • 89.81 (n)
  • 98.39 (a)
GLRB 37
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GLRB 36
  • 92.56 (n)
  • 99.2 (a)
GLRB 37
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Glrb 36
  • 88.31 (n)
  • 96.98 (a)
Glrb 16
Glrb 37
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GLRB 37
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GLRB 37
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Glrb 36
  • 88.37 (n)
  • 97.38 (a)
chicken
(Gallus gallus)
Aves GLRB 36
  • 83.23 (n)
  • 94.97 (a)
GLRB 37
  • 90 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GLRB 37
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia glrb 36
  • 80.48 (n)
  • 92.35 (a)
zebrafish
(Danio rerio)
Actinopterygii glrb 36
glrba 37
  • 79 (a)
OneToMany
glrbb 36
  • 73.43 (n)
  • 84.18 (a)
glrbb 37
  • 84 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001913 36
  • 46.7 (n)
  • 36.04 (a)
fruit fly
(Drosophila melanogaster)
Insecta ort 36
  • 46.54 (n)
  • 34.33 (a)
CG7589 38
  • 27 (a)
CG11340 38
  • 29 (a)
CG6927 38
  • 26 (a)
ort 38
  • 37 (a)
worm
(Caenorhabditis elegans)
Secernentea F09G2.5 38
  • 27 (a)
Y73F8A.2 38
  • 30 (a)
gbr-4 38
  • 35 (a)
T24D8.1 38
  • 34 (a)
C39B10.2 38
  • 33 (a)
glc-3 38
  • 32 (a)
glc-1 38
  • 37 (a)
F55D10.5 38
  • 31 (a)
gbr-5 38
  • 34 (a)
T20B12.9 38
  • 32 (a)
W10G11.16 38
  • 35 (a)
F58G6.4 38
  • 27 (a)
Y46G5A.26 38
  • 34 (a)
glc-2 38
  • 40 (a)
C53D6.3 38
  • 31 (a)
K10D6.1 38
  • 33 (a)
T27E9.9 38
  • 31 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 44 (a)
OneToMany
Species with no ortholog for GLRB:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GLRB Gene

ENSEMBL:
Gene Tree for GLRB (if available)
TreeFam:
Gene Tree for GLRB (if available)

Paralogs for GLRB Gene

genes like me logo Genes that share paralogs with GLRB: view

Variants for GLRB Gene

Sequence variations from dbSNP and Humsavar for GLRB Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type MAF
rs1129304 -- 157,171,270(+) CAAAA(A/T)ATATT utr-variant-3-prime
rs1801154 -- 157,152,761(+) ACCCT(C/T)GCCGC synonymous-codon, reference, intron-variant
rs1806572 -- 157,116,237(+) AAAGA(C/T)GACTG intron-variant
rs1986451 -- 157,100,286(+) CTTTT(C/T)TATAT intron-variant
rs2343760 -- 157,076,728(+) TTTTG(C/G)GGGGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GLRB Gene

Variant ID Type Subtype PubMed ID
esv2661593 CNV Deletion 23128226

Relevant External Links for GLRB Gene

HapMap Linkage Disequilibrium report
GLRB
Human Gene Mutation Database (HGMD)
GLRB

Disorders for GLRB Gene

(1) OMIM Diseases for GLRB Gene (138492)

UniProtKB/Swiss-Prot

GLRB_HUMAN
  • Hyperekplexia 2 (HKPX2) [MIM:614619]: A neurologic disorder characterized by muscular rigidity of central nervous system origin, particularly in the neonatal period, and by an exaggerated startle response to unexpected acoustic or tactile stimuli. {ECO:0000269 PubMed:11929858, ECO:0000269 PubMed:21391991}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for GLRB Gene

(1) Novoseek inferred disease relationships for GLRB Gene

Disease -log(P) Hits PubMed IDs
hyperekplexia 94.6 6

Relevant External Links for GLRB

GeneTests
GLRB
GeneReviews
GLRB
Genetic Association Database (GAD)
GLRB
Human Genome Epidemiology (HuGE) Navigator
GLRB
genes like me logo Genes that share disorders with GLRB: view

Publications for GLRB Gene

  1. The human glycine receptor beta subunit gene (GLRB): structure, refined chromosomal localization, and population polymorphism. (PMID: 9676428) Milani N. … Becker C.-M. (Genomics 1998) 2 3 4 23
  2. The human glycine receptor beta subunit: primary structure, functional characterisation and chromosomal localisation of the human and murine genes. (PMID: 8717357) Handford C.A. … Schofield P.R. (Brain Res. Mol. Brain Res. 1996) 2 3 4 23
  3. Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the human inhibitory glycine receptor (GLRB). (PMID: 11929858) Rees M.I. … Owen M.J. (Hum. Mol. Genet. 2002) 3 4 23
  4. Relaxation of glycine receptor and onconeural gene transcription control in NRSF deficient small cell lung cancer cell lines. (PMID: 14741407) Neumann S.B. … Becker C.M. (Brain Res. Mol. Brain Res. 2004) 3 23
  5. Identification of a gephyrin binding motif on the glycine receptor beta subunit. (PMID: 7546736) Meyer G. … Langosch D. (Neuron 1995) 3 23

Products for GLRB Gene

Sources for GLRB Gene

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