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GLRB Gene

protein-coding   GIFtS: 68
GCID: GC04P157997

Glycine Receptor, Beta

  See GLRB-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Glycine Receptor, Beta1 2
Glycine Receptor 58 KDa Subunit2 3
HKPX22 5
Glycine Receptor Subunit Beta2
Glycine Receptor, Beta Subunit2

External Ids:    HGNC: 43291   Entrez Gene: 27432   Ensembl: ENSG000001097387   OMIM: 1384925   UniProtKB: P481673   

Export aliases for GLRB gene to outside databases

Previous GC identifers: GC04P158877 GC04P158427 GC04P158574 GC04P158354 GC04P158216 GC04P153748


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include extracellular-glycine-gated ion channel activity and glycine binding. An important paralog of this gene is GLRA2.

UniProtKB/Swiss-Prot: GLRB_HUMAN, P48167
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)

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


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000004.11  NC_018915.2  NT_016354.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the GLRB gene promoter:
         ISGF-3   RP58   ATF-2   HSF1 (long)   HSF1short   Nkx2-5   HNF-3beta   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGLRB promoter sequence
   Search Chromatin IP Primers for GLRB

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GLRB


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4q31.3   Ensembl cytogenetic band:  4q32.1   HGNC cytogenetic band: 4q31.3

GLRB Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GLRB gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P157997:  view genomic region     (about GC identifiers)

Start:
157,997,209 bp from pter      End:
158,093,242 bp from pter
Size:
96,034 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: GLRB_HUMAN, P48167 (See protein sequence)
Recommended Name: Glycine receptor subunit beta precursor  
Size: 497 amino acids; 56122 Da
Subunit: Interacts with GPHN (By similarity). Pentamer composed of three alpha and two beta subunits
Secondary accessions: A8K3K2 D3DP23 F5GWE1
Alternative splicing: 2 isoforms:  P48167-1   P48167-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for GLRB: NX_P48167

Explore proteomics data for GLRB at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys198, Lys440
  • Glycosylation2 at Asn54, Asn242
  • Modification sites at PhosphoSitePlus

  • See GLRB Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_000815.1  NP_001159532.1  NP_001159533.1  

    ENSEMBL proteins: 
     ENSP00000264428   ENSP00000421044   ENSP00000425433   ENSP00000422039   ENSP00000427186  
     ENSP00000441873  
    Reactome Protein details: P48167

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    IUPHAR Guide to PHARMACOLOGY protein family classification: beta
    Glycine receptors

    5 InterPro protein domains:
     IPR018000 Neurotransmitter_ion_chnl_CS
     IPR006201 Neur_channel
     IPR006202 Neur_chan_lig-bd
     IPR006029 Neurotrans-gated_channel_TM
     IPR008060 Glycine_rcpt_B

    Graphical View of Domain Structure for InterPro Entry P48167

    ProtoNet protein and cluster: P48167

    3 Blocks protein domains:
    IPB006028 Gamma-aminobutyric acid A (GABAA) receptor signature
    IPB006201 Neurotransmitter-gated ion-channel
    IPB008060 Glycine receptor beta subunit signature


    UniProtKB/Swiss-Prot: GLRB_HUMAN, P48167
    Similarity: Belongs to the ligand-gated ion channel (TC 1.A.9) family. Glycine receptor (TC 1.A.9.3) subfamily.
    GLRB sub-subfamily


    Find genes that share domains with GLRB           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GLRB_HUMAN, P48167
    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)

         Genatlas biochemistry entry for GLRB:
    glycine receptor,beta subunit

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005230extracellular ligand-gated ion channel activity ----
    GO:0005488binding ----
    GO:0005515protein binding IPI11929858
    GO:0016594contributes to glycine binding IMP15748848
    GO:0016933extracellular-glycine-gated ion channel activity IMP11929858
         
    Find genes that share ontologies with GLRB           About GenesLikeMe


    Phenotypes:
         6 GenomeRNAi human phenotypes for GLRB:
     Decreased NANOG protein expres  Decreased OCT4 protein express  Decreased POU5F1-GFP protein e  G0/1 arrest 
     Increased G1 DNA content  Increased homologous recombina 

         10 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Glrb):
     behavior/neurological  cardiovascular system  endocrine/exocrine gland  growth/size/body  homeostasis/metabolism 
     mortality/aging  muscle  nervous system  reproductive system  skeleton 

    Find genes that share phenotypes with GLRB           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for GLRB

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    SwitchGear 3'UTR luciferase reporter plasmidGLRB 3' UTR sequence
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    GLRB_HUMAN, P48167: Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell
    membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    extracellular1
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane NAS8717357
    GO:0016020membrane ----
    GO:0016021integral component of membrane ----
    GO:0030054cell junction IEA--

    Find genes that share ontologies with GLRB           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for GLRB About    
    See pathways by source

    SuperPathContained pathways About
    1Ion channel transport
    Ion channel transport0.58
    2Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    Transmembrane transport of small molecules0.47
    3Ca-dependent events
    Neurophysiological process PGE2 induced pain processing0.38
    4Peptide ligand-binding receptors
    Neuroactive ligand-receptor interaction0.36
    5Ligand-gated ion channel transport
    Ligand-gated ion channel transport


    Find genes that share SuperPaths with GLRB           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for GLRB
        Neurophysiological process PGE2-induced pain processing


    1 Reactome Pathway for GLRB
        Ligand-gated ion channel transport


    1 Kegg Pathway  (Kegg details for GLRB):
        Neuroactive ligand-receptor interaction

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for GLRB
    Interactions:

        GeneGlobe Interaction Network for GLRB

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    Selected Interacting proteins for GLRB (P481673 ENSP000002644284) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PFN1P077373, ENSP000002256554I2D: score=1 STRING: ENSP00000225655
    GPHNQ9NQX33, ENSP000003030194I2D: score=5 STRING: ENSP00000303019
    GLRA1ENSP000002745764STRING: ENSP00000274576
    GLRA2ENSP000002180754STRING: ENSP00000218075
    GLRA3ENSP000002740934STRING: ENSP00000274093
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001964startle response IMP11929858
    GO:0006810transport ----
    GO:0006811ion transport IDA8717357
    GO:0007218neuropeptide signaling pathway IDA8717357
    GO:0007268synaptic transmission IMP11929858

    Find genes that share ontologies with GLRB           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for GLRB available from Tocris Bioscience    About this table
    CompoundAction CAS #
    beta-Alanine Endogenous glycine agonist, more selective than taurine (Cat. No. 0209) [107-95-9]
    HypotaurineNon-selective endogenous glycine receptor agonist[300-84-5]
    L-SerineWeak endogenous glycine receptor agonist[56-45-1]
    L-AlanineGlycine receptor agonist[56-41-7]
    Taurine Non-selective, endogenous glycine receptor partial agonist [107-35-7]

    2 HMDB Compounds for GLRB    About this table
    CompoundSynonyms CAS #PubMed Ids
    ChlorineCl2 (see all 13)16887-00-6--
    Glycine2-Aminoacetate (see all 15)56-40-6--

    2 DrugBank Compounds for GLRB    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    LindaneBenzene hexachloride (see all 11)58-89-9targetantagonist20600211 12614680
    Glycine2-Aminoacetic acid (see all 4)56-40-6target--16884688

    Selected IUPHAR Ligands for GLRB (beta) (see all 11)    About this table
    LigandTypeActionAffinityPubmed IDs
    ginkgolide B
    Channel blockerNone6.3--
    tropisetron
    AntagonistAntagonist5.3--
    cyanotriphenylborate
    Channel blockerNone5.1--
    picrotoxinin
    Channel blockerNone5.1--
    pregnenolone sulphate
    AntagonistAntagonist5--
    nifedipine
    AntagonistAntagonist4.9--
    picrotin
    Channel blockerNone4.6--
    picrotoxin
    Channel blockerNone4.5--
    bilobalide
    AntagonistAntagonist4.3--
    Zn2+
    Allosteric regulatorInhibition3.7--

    1 Novoseek inferred chemical compound relationship for GLRB gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nmda 18 1 16757119 (1)



    Find genes that share compounds with GLRB           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for GLRB gene (3 alternative transcripts): 
    NM_000824.4  NM_001166060.1  NM_001166061.1  

    Unigene Cluster for GLRB:

    Glycine receptor, beta
    Hs.32973  [show with all ESTs]
    Unigene Representative Sequence: NM_000824
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000264428(uc003ipj.2 uc021xtq.1) ENST00000515642 ENST00000512619
    ENST00000506411 ENST00000509282 ENST00000510970 ENST00000541722(uc021xtp.1)

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    Additional mRNA sequence: 

    AF094754.1 AF094755.1 AK290617.1 BC022502.1 BC032635.1 U33267.1 

    6 DOTS entries:

    DT.411213  DT.75157112  DT.99938014  DT.91749554  DT.95375567  DT.95251107 

    Selected AceView cDNA sequences (see all 81):

    NM_000824 BF447633 BI762384 CD013911 CF265034 U33267 BC032635 AI300991 
    AI734165 BM129318 AI732779 AA464733 AI268011 CF272217 AW129988 BX111207 
    BQ417089 AF094754 BQ416784 AL538200 BM543512 T05777 AI307336 AI205516 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for GLRB    About this scheme

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


    ECgene alternative splicing isoforms for GLRB

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    GLRB expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GATTTCATTT
    GLRB Expression
    About this image


    GLRB expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 10) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Adult Endothelial Cells Blood Brain Barrier
             Cerebellum
             Oligodendrocyte-like cells
     
     Bone (Muscoskeletal System)    fully expand to see all 3 entries
             Mesenchymal Condensate Cells Zeugopod
             Zeugopod Epiphyseal End
     
     Limb (Muscoskeletal System)    fully expand to see all 3 entries
             Limb Muscle Progenitor Cells Forelimb Myotome
     
     Cartilage (Muscoskeletal System)    fully expand to see all 2 entries
             Mesenchymal Condensate Cells Zeugopod
     
     Oligodendrocytes (Nervous System)    fully expand to see all 2 entries
             Oligodendrocyte-like cells
    GLRB Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GLRB Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.32973
        Custom PCR Arrays for GLRB
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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for GLRB gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Glrb1 , 5 glycine receptor, beta subunit1, 5 88.31(n)1
    96.98(a)1
      3 (35.71 cM)5
    146581  NM_010298.61  NP_034428.21 
     808435995 
    chicken
    (Gallus gallus)
    Aves GLRB1 glycine receptor, beta 83.23(n)
    94.97(a)
      422411  XM_420379.4  XP_420379.2 
    lizard
    (Anolis carolinensis)
    Reptilia GLRB6
    glycine receptor, beta
    90(a)
    1 ↔ 1
    5(128909899-128952557)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia glrb1 glycine receptor, beta 80.48(n)
    92.35(a)
      779708  NM_001078787.1  NP_001072255.1 
    zebrafish
    (Danio rerio)
    Actinopterygii glrb2 gylcine receptor, beta 75.43(n)   83412  AJ404971.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta ort1 , 3 histamine-gated chloride channel3
    ora transientless1
    37(a)
    (best of 4)3
    46.54(n)1
    34.33(a)1
      3 92A133
    459101  NM_079682.31  NP_524406.11 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GLRB gene
    GLRA22  GABRR12  GLRA12  GABRB12  GABRR32  GABRD2  GABRP2  GLRA42  
    GABRB32  GABRB22  GABRQ2  GLRA32  GABRR22  
    Selected SIMAP similar genes for GLRB using alignment to 3 protein entries:     GLRB_HUMAN (see all proteins) (see all similar genes):
    GLRA4    GLRA2    GLRA3    GABRQ    GLRA1    GABRB1
    GABRP    GABRR3    GABRA2    DKFZp781L0846    GABRB3    GABRD
    GABRB2    GABRR1    GABRR2    GABRA6    GABRA5    GABRE

    Find genes that share paralogs with GLRB           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for GLRB (see all 1895)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0350704
    Hyperekplexia 2 (HKPX2)4--see VAR_0350702 G D mis40--------
    VAR_0682464
    Hyperekplexia 2 (HKPX2)4--see VAR_0682462 M R mis40--------
    rs1219097491,2
    Cpathogenic1157857340(+) GAAAGA/GCTACT 6 D G mis10--------
    rs568096111,2
    C--153765940(+) TCTCA-/AAAAAA 3 -- int10--------
    rs1440076271,2
    C--153785891(+) AACCC-/AGGTGA 3 -- int10--------
    rs1841180811,2
    --157787693(+) AATATA/GGGTAA 2 -- us2k10--------
    rs1896240541,2
    C--157787713(+) TTTCAC/TAGAAA 2 -- us2k10--------
    rs46908761,2
    C,H--157787729(+) TTTCAA/GAATTC 2 -- us2k113Minor allele frequency- G:0.02NA WA CSA EA 376
    rs1468816961,2
    C--157787845(+) GCTTTC/TCTTCT 2 -- us2k10--------
    rs46908771,2
    C,A--157787876(+) ATAACC/ATCCAT 2 -- us2k19Minor allele frequency- A:0.45NA CSA WA EA 369

    HapMap Linkage Disequilibrium report for GLRB (157997209 - 158093242 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for GLRB:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2661593CNV Deletion23128226

    Human Gene Mutation Database (HGMD): GLRB
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GLRB
    DNA2.0 Custom Variant and Variant Library Synthesis for GLRB

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 138492   
    OMIM disorders: 614619  
    UniProtKB/Swiss-Prot: GLRB_HUMAN, P48167
  • 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 7 diseases for GLRB:    
    About MalaCards
    glrb-related hyperekplexia    hyperekplexia 2, autosomal recessive    hyperekplexia    stiff-person syndrome
    hyperekplexia, hereditary 1, autosomal dominant or recessive    esotropia    glycine encephalopathy

    2 diseases from the University of Copenhagen DISEASES database for GLRB:
    Glycine encephalopathy     Esotropia

    Find genes that share disorders with GLRB           About GenesLikeMe

    1 Novoseek inferred disease relationship for GLRB gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hyperekplexia 94.6 11 11929858 (3), 9676428 (1), 12427512 (1), 10651857 (1)

    GeneTests: GLRB
    GeneReviews: GLRB
    Genetic Association Database (GAD): GLRB
    Human Genome Epidemiology (HuGE) Navigator: GLRB (7 documents)

    Export disorders for GLRB gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for GLRB gene, integrated from 10 sources (see all 52):
    (articles sorted by number of sources associating them with GLRB)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The human glycine receptor beta subunit gene (GLRB): structure, refined chromosomal localization, and population polymorphism. (PubMed id 9676428)1, 2, 3, 9 Milani N.... Becker C.-M. (Genomics 1998)
    2. The human glycine receptor beta subunit: primary structure, functional characterisation and chromosomal localisation of the human and murine genes. (PubMed id 8717357)1, 2, 3, 9 Handford C.A.... Schofield P.R. (Brain Res. Mol. Brain Res. 1996)
    3. Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the human inhibitory glycine receptor (GLRB). (PubMed id 11929858)1, 2, 9 Rees M.I.... Owen M.J. (Hum. Mol. Genet. 2002)
    4. Novel mutation in GLRB in a large family with hereditary hyperekplexia. (PubMed id 21391991)1, 2 Al-Owain M.... Kaya N. (Clin. Genet. 2012)
    5. Human variation in alcohol response is influenced by variation in neuronal signaling genes. (PubMed id 20201926)1, 4 Joslyn G....White R.L. (Alcohol. Clin. Exp. Res. 2010)
    6. Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging. (PubMed id 19834535)1, 4 Wheeler H.E....Kim S.K. (PLoS Genet. 2009)
    7. Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment. (PubMed id 19086053)1, 4 GratacA^s M....Carracedo A. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009)
    8. Genetical genomic determinants of alcohol consumption in rats and humans. (PubMed id 19874574)1, 4 Tabakoff B....Hoffman P.L. (BMC Biol. 2009)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. PCR isolation and cloning of novel splice variant mRNAs from known drug target genes. (PubMed id 15028279)1, 2 Jin P.... Stuve L.L. (Genomics 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 2743 HGNC: 4329 AceView: GLRB Ensembl:ENSG00000109738 euGenes: HUgn2743
    ECgene: GLRB Kegg: 2743 H-InvDB: GLRB

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for GLRB Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=GLRB[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for GLRB gene:
    Search GeneIP for patents involving GLRB

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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