GLRB Gene (Protein Coding)

Glycine Receptor Beta

GC04P157076
GIFtS:
50
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... See more...

Aliases for GLRB Gene

Aliases for GLRB Gene

  • Glycine Receptor Beta 2 3 5
  • Glycine Receptor 58 KDa Subunit 3 4
  • Glycine Receptor Subunit Beta 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 Hyperekplexia 2 and Hyperekplexia. Among its related pathways are Peptide ligand-binding receptors and DAG and IP3 signaling. Gene Ontology (GO) annotations related to this gene include drug binding and glycine binding. An important paralog of this gene is GLRA2.

UniProtKB/Swiss-Prot Summary for GLRB Gene

  • Glycine receptors are ligand-gated chloride channels. GLRB does not form ligand-gated ion channels by itself, but is part of heteromeric ligand-gated chloride channels. Channel opening is triggered by extracellular glycine (PubMed:8717357, PubMed:15302677, PubMed:16144831, PubMed:22715885, PubMed:25445488, PubMed:11929858, PubMed:23238346). Heteropentameric channels composed of GLRB and GLRA1 are activated by lower glycine levels than homopentameric GLRA1 (PubMed:8717357). Plays an important role in the down-regulation of neuronal excitability (PubMed:11929858, PubMed:23238346). Contributes to the generation of inhibitory postsynaptic currents (PubMed:25445488).

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

Additional gene information for GLRB Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GLRB Gene

Genomics for GLRB Gene

GeneHancer (GH) Regulatory Elements for GLRB Gene

Promoters and enhancers for GLRB Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH04J157075 Promoter 1.5 EPDnew Ensembl CraniofacialAtlas 505.6 +0.4 375 1.8 ZNF10 ZBTB26 ZNF341 SMC3 ZNF263 POLR2A ZFHX2 ZNF335 FOXP2 HIC1 GLRB ENSG00000250622 PDGFC piR-32461-135
GH04J156998 Enhancer 1.2 Ensembl ENCODE CraniofacialAtlas dbSUPER 4.5 -76.6 -76624 2.2 JUND FOS REST TRIM28 ZNF510 EP300 TEAD1 ZBTB17 NR3C1 FOSL2 PDGFC ENSG00000250622 GLRB lnc-PDGFC-1 RPPH1-3P ENSG00000252524
GH04J157003 Enhancer 1 Ensembl ENCODE dbSUPER 4.5 -71.7 -71724 2.8 JUND POLR2A REST FOS NR3C1 CEBPB ZBTB33 USF1 STAT3 TAF1 ENSG00000250622 PDGFC GLRB RPPH1-3P lnc-PDGFC-1 ENSG00000252524
GH04J157014 Enhancer 0.9 Ensembl ENCODE dbSUPER 4.6 -60.8 -60815 1.4 USF1 JUND TEAD4 FOS SRF MAFK CTCF RAD21 SP1 USF2 GLRB lnc-PDGFC-1 RPPH1-3P ENSG00000252524
GH04J156975 Enhancer 0.9 Ensembl ENCODE dbSUPER 4.4 -99.4 -99368 3.5 JUND FOS REST EZH2 MAFK FOXP2 GATA2 BHLHE40 GATA1 POLR2A GLRB ENSG00000250622 lnc-GLRB-6 RPPH1-3P lnc-PDGFC-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GLRB on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GLRB

Top Transcription factor binding sites by QIAGEN in the GLRB gene promoter:
  • ATF-2
  • Hlf
  • HNF-3beta
  • HSF1 (long)
  • HSF1short
  • ISGF-3
  • Nkx2-5
  • RP58

Genomic Locations for GLRB Gene

Genomic Locations for GLRB Gene
chr4:157,076,125-157,172,099
(GRCh38/hg38)
Size:
95,975 bases
Orientation:
Plus strand
chr4:157,997,209-158,093,242
(GRCh37/hg19)
Size:
96,034 bases
Orientation:
Plus strand

Genomic View for GLRB Gene

Genes around GLRB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GLRB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GLRB Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for GLRB Gene

Proteins for GLRB Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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:
    • Heteropentamer composed of GLRB and GLRA1 (PubMed:8717357, PubMed:14551753, PubMed:22973015, PubMed:22715885, PubMed:25445488, PubMed:11929858, PubMed:23238346). Heteropentamer composed of GLRB and GLRA2 (PubMed:15302677, PubMed:16144831, PubMed:25445488). Heteropentamer composed of GLRB and GLRA3 (PubMed:25445488). Heteropentamer composed of two GLRA1 and three GLRB subunits (PubMed:22715885). Heteropentamer composed of three GLRA1 and two GLRB subunits (PubMed:22973015). Interacts with GPHN (PubMed:12684523,PubMed:26613940).

    Alternative splice isoforms for GLRB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GLRB Gene

Protein Expression for GLRB Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for GLRB Gene

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

Other Protein References for GLRB Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for GLRB
  • Boster Bio Antibodies for GLRB

No data available for DME Specific Peptides for GLRB Gene

Domains & Families for GLRB Gene

Gene Families for GLRB Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • FDA approved drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for GLRB Gene

Blocks:
  • Neurotransmitter-gated ion-channel
  • Gamma-aminobutyric acid A (GABAA) receptor signature
  • Glycine receptor beta subunit signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GLRB Gene

GenScript: Design optimal peptide antigens:
  • Glycine receptor 58 kDa subunit (GLRB_HUMAN)

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

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  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
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Molecular function for GLRB Gene

UniProtKB/Swiss-Prot Function:
Glycine receptors are ligand-gated chloride channels. GLRB does not form ligand-gated ion channels by itself, but is part of heteromeric ligand-gated chloride channels. Channel opening is triggered by extracellular glycine (PubMed:8717357, PubMed:15302677, PubMed:16144831, PubMed:22715885, PubMed:25445488, PubMed:11929858, PubMed:23238346). Heteropentameric channels composed of GLRB and GLRA1 are activated by lower glycine levels than homopentameric GLRA1 (PubMed:8717357). Plays an important role in the down-regulation of neuronal excitability (PubMed:11929858, PubMed:23238346). Contributes to the generation of inhibitory postsynaptic currents (PubMed:25445488).
GENATLAS Biochemistry:
glycine receptor,beta subunit

Phenotypes From GWAS Catalog for GLRB Gene

Gene Ontology (GO) - Molecular Function for GLRB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004888 transmembrane signaling receptor activity IEA --
GO:0005216 ion channel activity IEA --
GO:0005230 contributes_to extracellular ligand-gated ion channel activity IBA 21873635
GO:0005254 contributes_to chloride channel activity IBA 21873635
GO:0005515 protein binding IPI 11929858
genes like me logo Genes that share ontologies with GLRB: view
genes like me logo Genes that share phenotypes with GLRB: view

Human Phenotype Ontology for GLRB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for GLRB Gene

miRTarBase miRNAs that target GLRB

Clone 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 junction, synapse. Cell projection, dendrite. Cell membrane; Multi-pass membrane protein. Cytoplasm. Note=Retained in the cytoplasm upon heterologous expression by itself. Coexpression with GPHN promotes expression at the cell membrane (PubMed:12684523). Coexpression with GLRA1, GLRA2 or GLRA3 promotes expression at the cell membrane. {ECO:0000250 UniProtKB:P20781, ECO:0000269 PubMed:12684523}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GLRB gene
Compartment Confidence
plasma membrane 5
extracellular 3
cytoskeleton 2
mitochondrion 2
nucleus 2
cytosol 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for GLRB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IMP,IBA 11929858
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with GLRB: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GLRB Gene

Pathways & Interactions for GLRB Gene

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

Pathways by source for GLRB Gene

1 KEGG pathway for GLRB Gene
1 GeneGo (Thomson Reuters) pathway for GLRB Gene
  • Neurophysiological process PGE2-induced pain processing

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:0006811 ion transport IDA 8717357
GO:0006821 chloride transport IEA --
GO:0007165 signal transduction IBA 21873635
GO:0007218 neuropeptide signaling pathway IBA,IDA 8717357
genes like me logo Genes that share ontologies with GLRB: view

Drugs & Compounds for GLRB Gene

Products:

  1. Drug

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Lindane Approved, Withdrawn Pharma Target, antagonist 0
Glycine Approved, Vet_approved Nutra Full agonist, Agonist, Target 369
Nifedipine Approved Pharma Gating inhibitor, Channel blocker, Antagonist, Pore Blocker, Agonist, Activator, blocker 137
Tropisetron Approved, Investigational Pharma Antagonist, antagonist 27
cannabidiol Approved, Investigational Pharma Partial agonist, Agonist, Antagonist, Channel blocker, Activator, Target, allosteric modulator 0

(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
genes like me logo Genes that share compounds with GLRB: view

Transcripts for GLRB Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for GLRB Gene

3 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone 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

Expression for GLRB Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GLRB Gene

mRNA expression in normal human tissues for GLRB Gene
mRNA expression by GTEx for GLRB GenemRNA expression by BioGPS 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 and MOPED for GLRB Gene



Protein tissue co-expression partners for GLRB Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GLRB

SOURCE GeneReport for Unigene cluster for GLRB Gene:

Hs.32973

Evidence on tissue expression from TISSUES for GLRB Gene

  • Nervous system(4.8)
  • Heart(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GLRB Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • epiglottis
  • eye
  • head
  • mouth
  • pharynx
Thorax:
  • bronchus
  • heart
  • lung
  • trachea
Abdomen:
  • abdominal wall
  • intestine
Pelvis:
  • pelvis
Limb:
  • ankle
  • digit
  • elbow
  • femur
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • thigh
  • toe
  • upper limb
  • wrist
General:
  • blood vessel
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with GLRB: view

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
chimpanzee
(Pan troglodytes)
 Mammalia GLRB 31 30
  • 99.6 (n)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia GLRB 31
  • 97 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia GLRB 31
  • 97 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia GLRB 31 30
  • 92.56 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia GLRB 31 30
  • 89.81 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Glrb 30
  • 88.37 (n)
mouse
(Mus musculus)
 Mammalia Glrb 17 31 30
  • 88.31 (n)
chicken
(Gallus gallus)
 Aves GLRB 31 30
  • 83.23 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia GLRB 31
  • 90 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia glrb 30
  • 80.48 (n)
zebrafish
(Danio rerio)
 Actinopterygii glrba 31
  • 79 (a)
 OneToMany
glrbb 31 30
  • 73.43 (n)
 OneToMany
glrb 30
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP001913 30
  • 46.7 (n)
fruit fly
(Drosophila melanogaster)
 Insecta ort 32 30
  • 46.54 (n)
CG11340 32
  • 29 (a)
CG7589 32
  • 27 (a)
CG6927 32
  • 26 (a)
worm
(Caenorhabditis elegans)
 Secernentea glc-2 32
  • 40 (a)
glc-1 32
  • 37 (a)
gbr-4 32
  • 35 (a)
W10G11.16 32
  • 35 (a)
T24D8.1 32
  • 34 (a)
Y46G5A.26 32
  • 34 (a)
gbr-5 32
  • 34 (a)
K10D6.1 32
  • 33 (a)
C39B10.2 32
  • 33 (a)
glc-3 32
  • 32 (a)
T20B12.9 32
  • 32 (a)
T27E9.9 32
  • 31 (a)
C53D6.3 32
  • 31 (a)
F55D10.5 32
  • 31 (a)
Y73F8A.2 32
  • 30 (a)
F09G2.5 32
  • 27 (a)
F58G6.4 32
  • 27 (a)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 44 (a)
 OneToMany
Species where no ortholog for GLRB was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for GLRB: view image

Paralogs for GLRB Gene

Variants for GLRB Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GLRB Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
643650 Uncertain Significance: Hyperekplexia 2 157,122,342(+) A/G MISSENSE_VARIANT
651260 Uncertain Significance: Hyperekplexia 2 157,120,618(+) G/A MISSENSE_VARIANT
653331 Pathogenic: Hyperekplexia 2 157,078,046(+) GC/G FRAMESHIFT_VARIANT
715278 Benign: not provided 157,143,820(+) C/T SYNONYMOUS_VARIANT
726330 Likely Benign: not provided 157,120,655(+) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for GLRB Gene

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

Variant ID Type Subtype PubMed ID
esv2661593 CNV deletion 23128226
esv3602801 CNV gain 21293372
esv3602804 CNV loss 21293372
esv3602805 CNV loss 21293372
nsv1018387 CNV gain 25217958
nsv1027454 CNV gain 25217958
nsv595803 CNV gain 21841781
nsv595804 CNV loss 21841781

Variation tolerance for GLRB Gene

Residual Variation Intolerance Score: 21.2% 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)

Additional Variant Information for GLRB Gene

Human Gene Mutation Database (HGMD)
GLRB
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GLRB

SNP Genotyping and Copy Number Assay Products

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

Disorders for GLRB Gene

MalaCards: The human disease database

(10) MalaCards diseases for GLRB Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hyperekplexia 2
  • hkpx2
hyperekplexia
  • startle disease, familial
stiff-person syndrome
  • sps
hyperekplexia 3
  • hkpx3
hyperekplexia 1
  • hkpx1
- elite association - COSMIC cancer census association via MalaCards
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, ECO:0000269 PubMed:23238346}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for GLRB

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

No data available for Genatlas for GLRB Gene

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 CM (Genomics 1998) 2 3 4 23 54
  2. The human glycine receptor beta subunit: primary structure, functional characterisation and chromosomal localisation of the human and murine genes. (PMID: 8717357) Handford CA … Schofield PR (Brain research. Molecular brain research 1996) 2 3 4 23 54
  3. Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the human inhibitory glycine receptor (GLRB). (PMID: 11929858) Rees MI … Owen MJ (Human molecular genetics 2002) 3 4 23 54
  4. Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy. (PMID: 26613940) Dejanovic B … Schwarz G (EMBO molecular medicine 2015) 3 4 54
  5. Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease. (PMID: 23238346) James VM … Harvey RJ (Neurobiology of disease 2013) 3 4 54

ExternalLinks

View latest publications for GLRB gene in Mastermind

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