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GLRA2 Gene

protein-coding   GIFtS: 68
GCID: GC0XP014457

Glycine Receptor, Alpha 2


(Previous symbol: GLR)
  See GLRA2-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, Alpha 21 2
GLR1 2
Glycine Receptor Alpha 2 Subunit2
Glycine Receptor Subunit Alpha-22
Glycine Receptor, Alpha-2 Polypeptide2

External Ids:    HGNC: 43271   Entrez Gene: 27422   Ensembl: ENSG000001019587   OMIM: 3059905   UniProtKB: P234163   

Export aliases for GLRA2 gene to outside databases

Previous GC identifers: GC0XP013992 GC0XP013373 GC0XP013749 GC0XP013909 GC0XP014307 GC0XP012306


(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 GLRA2 Gene:
The glycine receptor consists of two subunits, alpha and beta, and acts as a pentamer. The protein encoded by this
gene is an alpha subunit and can bind strychnine. Several transcript variants encoding different isoforms have
been found for this gene.(provided by RefSeq, Jan 2010)

GeneCards Summary for GLRA2 Gene:
GLRA2 (glycine receptor, alpha 2) is a protein-coding gene. Diseases associated with GLRA2 include dyscalculia, and hyperekplexia. GO annotations related to this gene include transmitter-gated ion channel activity and glycine binding. An important paralog of this gene is GABRR1.

UniProtKB/Swiss-Prot: GLRA2_HUMAN, P23416
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 GLRA2 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 GLRA2 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_000023.10  NT_167197.2  NC_018934.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GLRA2 gene promoter:
         TBP   FOXF2   Brachyury   Nkx2-5   E4BP4   Arnt   SRY   TFIID   HOXA5   TGIF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGLRA2 promoter sequence
   Search Chromatin IP Primers for GLRA2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GLRA2


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

Entrez Gene cytogenetic band: Xp22.2   Ensembl cytogenetic band:  Xp22.2   HGNC cytogenetic band: Xp22.2

GLRA2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GLRA2 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP014457:  view genomic region     (about GC identifiers)

Start:
14,547,420 bp from pter      End:
14,749,934 bp from pter
Size:
202,515 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: GLRA2_HUMAN, P23416 (See protein sequence)
Recommended Name: Glycine receptor subunit alpha-2 precursor  
Size: 452 amino acids; 52002 Da
Subunit: Pentamer composed of alpha and beta subunits
Miscellaneous: The alpha subunit binds strychnine
Secondary accessions: A8K0J6 B2R6I8 B7Z4F5 J3KQ59 Q53YX7 Q6ICQ0 Q99862
Alternative splicing: 3 isoforms:  P23416-1   P23416-2   P23416-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for GLRA2: NX_P23416

Explore proteomics data for GLRA2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See GLRA2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001112357.1  NP_001112358.1  NP_001165413.1  NP_002054.1  

    ENSEMBL proteins: 
     ENSP00000218075   ENSP00000347123   ENSP00000391606   ENSP00000387756  
    Reactome Protein details: P23416

    GLRA2 Human Recombinant Protein Products:

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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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    HGNC Gene Families:
    GLRA: Ligand-gated ion channels / Glycine receptors

    IUPHAR Guide to PHARMACOLOGY protein family classification: alpha2
    Glycine receptors

    Selected InterPro protein domains (see all 7):
     IPR008129 Glycine_rcpt_A2
     IPR008127 Glycine_rcpt_A
     IPR018000 Neurotransmitter_ion_chnl_CS
     IPR006028 GABAA_rcpt
     IPR006201 Neur_channel

    Graphical View of Domain Structure for InterPro Entry P23416

    ProtoNet protein and cluster: P23416

    3 Blocks protein domains:
    IPB006028 Gamma-aminobutyric acid A (GABAA) receptor signature
    IPB006201 Neurotransmitter-gated ion-channel
    IPB008129 Glycine receptor alpha 2 subunit signature


    UniProtKB/Swiss-Prot: GLRA2_HUMAN, P23416
    Similarity: Belongs to the ligand-gated ion channel (TC 1.A.9) family. Glycine receptor (TC 1.A.9.3) subfamily.
    GLRA2 sub-subfamily


    Find genes that share domains with GLRA2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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: GLRA2_HUMAN, P23416
    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 GLRA2:
    glycine receptor,alpha 2 subunit

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005230extracellular ligand-gated ion channel activity ----
    GO:0016594glycine binding IDA2155780
    GO:0016934extracellular-glycine-gated chloride channel activity IDA2155780
    GO:0022824transmitter-gated ion channel activity IEA--
         
    Find genes that share ontologies with GLRA2           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for GLRA2:
     Increased resistance to MDM2 i 

         8 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Glra2):
     behavior/neurological  cellular  growth/size/body  mortality/aging  nervous system 
     no phenotypic analysis  reproductive system  vision/eye 

    Find genes that share phenotypes with GLRA2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for GLRA2: Glra2tm1Clc Glra2tm1Lex

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GLRA2
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    hsa-mir-335-5p (MIRT017796)

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    hsa-miR-548p hsa-miR-7-2* hsa-miR-27a hsa-miR-133b hsa-miR-4282 hsa-miR-511 hsa-miR-133a hsa-miR-7-1*
    SwitchGear 3'UTR luciferase reporter plasmidGLRA2 3' UTR sequence
    Inhib. RNA
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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
    GLRA2_HUMAN, P23416: Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell
    membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    extracellular1
    peroxisome1

    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 NAS2155780
    GO:0016020membrane ----
    GO:0016021integral component of membrane ----
    GO:0030054cell junction IEA--

    Find genes that share ontologies with GLRA2           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 GLRA2 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 GLRA2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for GLRA2
        Neurophysiological process PGE2-induced pain processing


    1 Reactome Pathway for GLRA2
        Ligand-gated ion channel transport


    1 Kegg Pathway  (Kegg details for GLRA2):
        Neuroactive ligand-receptor interaction

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for GLRA2
    Interactions:

        Search GeneGlobe Interaction Network for GLRA2

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

    Selected Interacting proteins for GLRA2 (P234162, 3 ENSP000002180754) via UniProtKB, MINT, STRING, and/or I2D (see all 19)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BAG6P463792, 3MINT-63602 I2D: score=4 
    ENSG00000096155P463792, 3MINT-63602 I2D: score=4 
    ENSG00000227761P463792, 3MINT-63602 I2D: score=4 
    ENSG00000228760P463792, 3MINT-63602 I2D: score=4 
    ENSG00000229524P463792, 3MINT-63602 I2D: score=4 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport ----
    GO:0006811ion transport IDA2155780
    GO:0007218neuropeptide signaling pathway IDA2155780
    GO:0007416synapse assembly IEA--
    GO:0034220ion transmembrane transport TAS--

    Find genes that share ontologies with GLRA2           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
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      Browse compounds at ApexBio 

    Compounds for GLRA2 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]

    3 HMDB Compounds for GLRA2    About this table
    CompoundSynonyms CAS #PubMed Ids
    ChlorineCl2 (see all 13)16887-00-6--
    Ethanol1-Hydroxyethane (see all 57)64-17-5--
    Glycine2-Aminoacetate (see all 15)56-40-6--

    4 DrugBank Compounds for GLRA2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    EthanolAbsolute Alcohol (see all 34)64-17-5targetagonist20713066 17139284 9452448 17016423
    Glycine2-Aminoacetic acid (see all 4)56-40-6target--17012403 16847326 17550639
    LindaneBenzene hexachloride (see all 11)58-89-9targetantagonist20600211 12614680
    Picrotoxin-- 124-87-8targetantagonist17714449 17405877

    Selected IUPHAR Ligands for GLRA2 (alpha2) (see all 20)    About this table
    LigandTypeActionAffinityPubmed IDs
    HU-210
    AntagonistAntagonist7--
    WIN55212-2
    AntagonistAntagonist6.7--
    picrotoxinin
    Channel blockerNone6.4--
    Zn2+
    Allosteric regulatorPotentiation6.3--
    Delta9-tetrahydrocannabinol
    Allosteric regulatorPotentiation6--
    HU-308
    AntagonistAntagonist6--
    picrotoxin
    Channel blockerNone5.6--
    ginkgolide X
    AntagonistAntagonist5.6--
    ginkgolide B
    Channel blockerNone4.9 - 5.4--
    pregnenolone sulphate
    AntagonistAntagonist5.3--

    4 Novoseek inferred chemical compound relationships for GLRA2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    strychnine 60.6 1 10065998 (1)
    bicuculline 48.3 4 10729364 (3)
    gaba 38 3 15046720 (1), 18288700 (1)
    ethanol 26.2 3 9726286 (1), 15147510 (1), 8968539 (1)



    Find genes that share compounds with GLRA2           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 GLRA2 gene (4 alternative transcripts): 
    NM_001118885.1  NM_001118886.1  NM_001171942.1  NM_002063.3  

    Unigene Cluster for GLRA2:

    Glycine receptor, alpha 2
    Hs.2700  [show with all ESTs]
    Unigene Representative Sequence: NM_002063
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000218075(uc010neq.3 uc004cwe.4) ENST00000355020 ENST00000415367
    ENST00000443437(uc011mio.2 uc010nep.3 uc011mip.2)
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    hsa-miR-548p hsa-miR-7-2* hsa-miR-27a hsa-miR-133b hsa-miR-4282 hsa-miR-511 hsa-miR-133a hsa-miR-7-1*
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    Additional mRNA sequence: 

    AK289561.1 AK297268.1 AK297304.1 AK312591.1 AY437083.1 AY437084.1 BC032864.2 BC045547.1 
    CR450343.1 X52008.1 

    5 DOTS entries:

    DT.106943  DT.121309199  DT.121309166  DT.91837909  DT.106944 

    14 AceView cDNA sequences:

    AY437083 AY437084 AA457277 CR450343 NM_002063 X52008 AA458707 AV729257 
    BI547861 BI599001 BC032864 BC045547 AA463244 AA463245 

    GeneLoc Exon Structure


    (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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    GLRA2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGCTGTACAA
    GLRA2 Expression
    About this image


    GLRA2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Neurons
             nGnG Amacrine Cells Inner Nuclear Layer
     
     Eye (Sensory Organs)
             nGnG Amacrine Cells Inner Nuclear Layer
     
     Spinal Cord (Nervous System)
    GLRA2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GLRA2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.2700
        Custom PCR Arrays for GLRA2
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GLRA2

    (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 chordates.

    Orthologs for GLRA2 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Glra21 , 5 glycine receptor, alpha 2 subunit1, 5 92.85(n)1
    98.67(a)1
      X (76.75 cM)5
    2372131  NM_183427.41  NP_906272.11 
     1651290175 
    chicken
    (Gallus gallus)
    Aves GLRA21 glycine receptor, alpha 2 85.55(n)
    96.02(a)
      772019  XM_004934695.1  XP_004934752.1 
    lizard
    (Anolis carolinensis)
    Reptilia GLRA26
    glycine receptor, alpha 2
    94(a)
    1 ↔ 1
    3(120920883-121096130)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia glra21 glycine receptor, alpha 2 80.74(n)
    92.89(a)
      100494348  XM_004912245.1  XP_004912302.1 
    zebrafish
    (Danio rerio)
    Actinopterygii glra21 glycine receptor, alpha 2 71.16(n)
    83.15(a)
      793646  NM_001167899.1  NP_001161371.1 


    ENSEMBL Gene Tree for GLRA2 (if available)
    TreeFam Gene Tree for GLRA2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GLRA2 gene
    GABRR12  GLRA12  GLRB2  GABRB12  GABRR32  GABRD2  GLRA42  GABRP2  
    GABRB32  GABRB22  GABRQ2  GLRA32  GABRR22  
    Selected SIMAP similar genes for GLRA2 using alignment to 2 protein entries:     GLRA2_HUMAN (see all proteins) (see all similar genes):
    GLRA1    GLRA4    GLRA3    GABRA2    GABRP    GABRQ
    GABRA4    GABRA5    GLRB    GABRA6    GABRB2    GABRR1
    GABRR2    GABRG2    GABRG3    GABRB1    GABRD    GABRR3

    Find genes that share paralogs with GLRA2           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 GLRA2 (see all 2674)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1927935901,2
    --14460125(+) GGGCGC/TGGTGG 4 -- us2k10--------
    rs1833134841,2
    --14460311(+) GAATCA/GCTTGA 4 -- us2k10--------
    rs1878032121,2
    --14460320(+) GAACCC/TGGGAG 4 -- us2k10--------
    rs66305451,2
    C,H--14460495(+) TATACC/GTAATT 4 -- us2k14Minor allele frequency- G:0.00NS EA 418
    rs1931794171,2
    --14460690(+) AGGGAC/TGTCTC 4 -- us2k10--------
    rs1842216321,2
    C--14460837(+) TTCCTA/GTATTT 4 -- us2k10--------
    rs1449552351,2
    --14460886(+) TATAGA/GCTCTT 4 -- us2k10--------
    rs1479532771,2
    --14461130(+) TGATCC/TAAAGT 4 -- us2k10--------
    rs1894599481,2
    --14461953(+) TCTGAA/GTCCTG 4 -- us2k10--------
    rs1924134221,2
    --14462181(+) CCTTCC/GAACAG 4 -- ut510--------

    HapMap Linkage Disequilibrium report for GLRA2 (14547420 - 14749934 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for GLRA2 (see all 14):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2739975CNV Deletion23290073
    esv2739976CNV Deletion23290073
    nsv6811CNV Insertion18451855
    nsv507947CNV Insertion20534489
    esv1737273CNV Insertion17803354
    nsv6810CNV Loss18451855
    esv27338CNV Loss19812545
    nsv9934CNV Loss18304495
    nsv518002CNV Gain19592680
    nsv526475CNV Gain19592680

    Locus Specific Mutation Databases (LSDB): GLRA2

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GLRA2
    DNA2.0 Custom Variant and Variant Library Synthesis for GLRA2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 305990    OMIM disorders: --

    2 diseases for GLRA2:    
    About MalaCards
    dyscalculia    hyperekplexia

    1 disease from the University of Copenhagen DISEASES database for GLRA2:
    Dyscalculia

    Find genes that share disorders with GLRA2           About GenesLikeMe

    Genetic Association Database (GAD): GLRA2
    Human Genome Epidemiology (HuGE) Navigator: GLRA2 (4 documents)

    Export disorders for GLRA2 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 GLRA2 gene, integrated from 10 sources (see all 46):
    (articles sorted by number of sources associating them with GLRA2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Structure of the human alpha 2 subunit gene of the glycine receptor: use of vectorette and Alu-exon PCR. (PubMed id 8973915)1, 2, 9 Monani U.R. and Burghes A.H.M. (Genome Res. 1996)
    2. 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)
    3. Genetical genomic determinants of alcohol consumption in rats and humans. (PubMed id 19874574)1, 4 Tabakoff B....Hoffman P.L. (BMC Biol. 2009)
    4. Differential agonist sensitivity of glycine receptor alpha2 subunit splice variants. (PubMed id 15302677)1, 2 Miller P.S.... Smart T.G. (Br. J. Pharmacol. 2004)
    5. 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)
    6. Analysis of the genomic structure of the human glycine receptor alpha-2 subunit gene and exclusion of this gene as a candidate for Rett syndrome. (PubMed id 9674912)1, 2 Cummings C.J.... Zoghbi H.Y. (Am. J. Med. Genet. 1998)
    7. Alpha subunit variants of the human glycine receptor: primary structures, functional expression and chromosomal localization of the corresponding genes. (PubMed id 2155780)1, 2 Grenningloh G.... Betz H. (EMBO J. 1990)
    8. Multiple sites of ethanol action in alpha1 and alpha2 glycine receptors suggested by sensitivity to pressure antagonism. (PubMed id 15147510)1, 9 Davies D.L....Alkana R.L. (J. Neurochem. 2004)
    9. Differentiated human midbrain-derived neural progenitor cells express excitatory strychnine-sensitive glycine receptors containing I+2I^ subunits. (PubMed id 22606311)1 Wegner F....Schwarz J. (PLoS ONE 2012)
    10. 3D structure and allosteric modulation of the transmembrane domain of pentameric ligand-gated ion channels. (PubMed id 20713066)7 Baenziger J.E. and Corringer P.J. (Neuropharmacology 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 2742 HGNC: 4327 AceView: GLRA2 Ensembl:ENSG00000101958 euGenes: HUgn2742
    ECgene: GLRA2 Kegg: 2742 H-InvDB: GLRA2

    (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 GLRA2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for GLRA2 gene:
    Search GeneIP for patents involving GLRA2

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



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