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Aliases for GLRB Gene

Aliases for GLRB Gene

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

External Ids for GLRB Gene

Previous GeneCards Identifiers for GLRB Gene

  • GC04P158877
  • GC04P158427
  • GC04P158574
  • GC04P158354
  • GC04P158216
  • GC04P157997
  • GC04P153748

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 Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Ion channel transport. GO annotations related to this gene include drug binding and glycine binding. 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.

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

Regulatory Elements for GLRB Gene

Genomic Location for GLRB Gene

Chromosome:
4
Start:
157,076,057 bp from pter
End:
157,172,099 bp from pter
Size:
96,043 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

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

  • Ubiquitination at Lys 198 and Lys 440
  • Glycosylation at Asn 54 and Asn 242
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for GLRB Gene

Domains & Families for GLRB Gene

Gene Families for GLRB Gene

Suggested Antigen Peptide Sequences for GLRB Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P48167

UniProtKB/Swiss-Prot:

GLRB_HUMAN :
  • Belongs to the ligand-gated ion channel (TC 1.A.9) family. Glycine receptor (TC 1.A.9.3) subfamily. GLRB sub-subfamily.
Family:
  • Belongs to the ligand-gated ion channel (TC 1.A.9) family. Glycine receptor (TC 1.A.9.3) subfamily. GLRB sub-subfamily.
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

miRNA for GLRB Gene

miRTarBase miRNAs that target GLRB

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GLRB

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets 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

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 & Interactions for GLRB Gene

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

Pathways by source for GLRB Gene

SIGNOR curated interactions for GLRB Gene

Is activated by:

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

Drugs & Compounds for GLRB Gene

(19) Drugs for GLRB Gene - From: IUPHAR, DGIdb, Tocris, NovoSeek, HMDB, and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Nifedipine Approved Pharma Activator, blocker 104
Lindane Approved, Withdrawn Pharma Target, antagonist 0
Glycine Approved Nutra Agonist, Target Endogenous potentiator, co-transmitter 102
Enflurane Approved Pharma Target, agonist 2
L-Alanine Approved Nutra Full agonist, Agonist Glycine receptor agonist 0

(2) Additional Compounds for GLRB Gene - From: HMDB and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Chloride ion
  • Bertholite
  • Chloor
  • Chlor
  • Chlore
  • Chloride
16887-00-6
Hypotaurine
  • 2-Amino-Ethanesulfinate
  • 2-Amino-Ethanesulfinic acid
  • 2-Aminoethanesulfinate
  • 2-Aminoethanesulfinic acid
  • 2-Aminoethylsulfinate
300-84-5
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:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GLRB

Flow Cytometry Products

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 differential expression in normal tissues according to GTEx for GLRB Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x6.7), Brain - Anterior cingulate cortex (BA24) (x5.8), and Brain - Cortex (x4.0).

Protein differential expression in normal tissues from HIPED for GLRB Gene

This gene is overexpressed in Retina (64.7).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with GLRB: view

Protein tissue co-expression partners for GLRB Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for GLRB Gene

Orthologs for GLRB Gene

This gene was present in the common ancestor of animals.

Orthologs for GLRB Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia GLRB 35
  • 89.81 (n)
  • 98.39 (a)
GLRB 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GLRB 35
  • 92.56 (n)
  • 99.2 (a)
GLRB 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Glrb 35
  • 88.31 (n)
  • 96.98 (a)
Glrb 16
Glrb 36
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GLRB 35
  • 99.6 (n)
  • 99.8 (a)
GLRB 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Glrb 35
  • 88.37 (n)
  • 97.38 (a)
oppossum
(Monodelphis domestica)
Mammalia GLRB 36
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GLRB 36
  • 97 (a)
OneToOne
chicken
(Gallus gallus)
Aves GLRB 35
  • 83.23 (n)
  • 94.97 (a)
GLRB 36
  • 90 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GLRB 36
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia glrb 35
  • 80.48 (n)
  • 92.35 (a)
zebrafish
(Danio rerio)
Actinopterygii glrb 35
glrbb 35
  • 73.43 (n)
  • 84.18 (a)
glrba 36
  • 79 (a)
OneToMany
glrbb 36
  • 84 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG11340 37
  • 29 (a)
CG6927 37
  • 26 (a)
CG7589 37
  • 27 (a)
ort 37
  • 37 (a)
ort 35
  • 46.54 (n)
  • 34.33 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001913 35
  • 46.7 (n)
  • 36.04 (a)
worm
(Caenorhabditis elegans)
Secernentea C39B10.2 37
  • 33 (a)
C53D6.3 37
  • 31 (a)
F09G2.5 37
  • 27 (a)
F55D10.5 37
  • 31 (a)
F58G6.4 37
  • 27 (a)
gbr-4 37
  • 35 (a)
gbr-5 37
  • 34 (a)
glc-1 37
  • 37 (a)
glc-2 37
  • 40 (a)
glc-3 37
  • 32 (a)
K10D6.1 37
  • 33 (a)
T20B12.9 37
  • 32 (a)
T24D8.1 37
  • 34 (a)
T27E9.9 37
  • 31 (a)
W10G11.16 37
  • 35 (a)
Y46G5A.26 37
  • 34 (a)
Y73F8A.2 37
  • 30 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 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
VAR_035070 Hyperekplexia 2 (HKPX2)
VAR_068246 Hyperekplexia 2 (HKPX2)

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

Variant ID Type Subtype PubMed ID
esv2661593 CNV Deletion 23128226

Variation tolerance for GLRB Gene

Residual Variation Intolerance Score: 21.22% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.19; 24.03% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GLRB Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GLRB Gene

Disorders for GLRB Gene

MalaCards: The human disease database

(6) MalaCards diseases for GLRB Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
glrb-related hyperekplexia
hyperekplexia 2, autosomal recessive
  • hyperekplexia 2
hyperekplexia
  • hyperekplexia, hereditary
communicating hydrocephalus
  • communicating hydrocephalus [ambiguous]
stiff-person syndrome
  • small patella syndrome
- elite association
Search GLRB in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for GLRB

Genetic Association Database (GAD)
GLRB
Human Genome Epidemiology (HuGE) Navigator
GLRB
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GLRB
genes like me logo Genes that share disorders with GLRB: view

No data available for Genatlas for GLRB Gene

Publications for GLRB Gene

  1. Mutations within the human GLYT2 (SLC6A5) gene associated with hyperekplexia. (PMID: 16884688) Eulenburg V. … Betz H. (Biochem. Biophys. Res. Commun. 2006) 23 25 26 67
  2. 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 23 67
  3. 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 23 67
  4. Dual actions of lindane (I^-hexachlorocyclohexane) on calcium homeostasis and exocytosis in rat PC12 cells. (PMID: 20600211) Heusinkveld H.J. … Westerink R.H. (Toxicol. Appl. Pharmacol. 2010) 25 26
  5. Molecular basis of gephyrin clustering at inhibitory synapses: role of G- and E-domain interactions. (PMID: 17182610) Saiyed T. … Betz H. (J. Biol. Chem. 2007) 23 67

Products for GLRB Gene

Sources for GLRB Gene

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