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Aliases for GLRA2 Gene

Aliases for GLRA2 Gene

  • Glycine Receptor Alpha 2 2 3 5
  • Glycine Receptor, Alpha-2 Polypeptide 3
  • Glycine Receptor Alpha 2 Subunit 3
  • Glycine Receptor Subunit Alpha-2 3
  • GLR 3

External Ids for GLRA2 Gene

Previous HGNC Symbols for GLRA2 Gene

  • GLR

Previous GeneCards Identifiers for GLRA2 Gene

  • GC0XP013992
  • GC0XP013373
  • GC0XP013749
  • GC0XP013909
  • GC0XP014307
  • GC0XP012306

Summaries for GLRA2 Gene

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 Rett Syndrome. 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 extracellular ligand-gated ion channel activity and extracellular-glycine-gated chloride channel activity. An important paralog of this gene is GLRA3.

UniProtKB/Swiss-Prot for GLRA2 Gene

  • Glycine receptors are ligand-gated chloride channels. Channel opening is triggered by extracellular glycine (PubMed:2155780, PubMed:15302677, PubMed:16144831, PubMed:23895467, PubMed:25445488). Channel opening is also triggered by taurine and beta-alanine (PubMed:15302677). Plays a role in the down-regulation of neuronal excitability. Contributes to the generation of inhibitory postsynaptic currents (PubMed:25445488). Plays a role in cellular responses to ethanol (PubMed:23895467).

Tocris 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.

Gene Wiki entry for GLRA2 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GLRA2 Gene

Genomics for GLRA2 Gene

Regulatory Elements for GLRA2 Gene

Enhancers for GLRA2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XG014496 0.8 Ensembl ENCODE 13 +48.6 48563 1.3 PKNOX1 STAT1 ASH2L RELB EBF1 IRF1 GLRA2 PIR55145
GH0XG014554 0.4 ENCODE 12.4 +105.6 105575 0.2 NR2F2 GLRA2 PIR55145
GH0XG014409 0.5 ENCODE 0.3 -39.2 -39242 1.0 FOXA2 RFX1 NFIB NFIA FOXA1 GLRA2 GC0XP014325
GH0XG014398 0.5 ENCODE 0.2 -49.8 -49756 0.2 FOXA2 CEBPA CEBPB EP300 FOXA1 GLRA2 GC0XP014325
GH0XG014380 0.5 ENCODE 0.2 -68.1 -68108 1.1 FOXA2 CEBPA ATF2 FOXA1 GC0XP014325 GLRA2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GLRA2 on UCSC Golden Path with GeneCards custom track

Genomic Location for GLRA2 Gene

Chromosome:
X
Start:
14,448,779 bp from pter
End:
14,731,812 bp from pter
Size:
283,034 bases
Orientation:
Plus strand

Genomic View for GLRA2 Gene

Genes around GLRA2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GLRA2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GLRA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GLRA2 Gene

Proteins for GLRA2 Gene

  • Protein details for GLRA2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P23416-GLRA2_HUMAN
    Recommended name:
    Glycine receptor subunit alpha-2
    Protein Accession:
    P23416
    Secondary Accessions:
    • A8K0J6
    • B2R6I8
    • B7Z4F5
    • J3KQ59
    • Q53YX7
    • Q6ICQ0
    • Q99862

    Protein attributes for GLRA2 Gene

    Size:
    452 amino acids
    Molecular mass:
    52002 Da
    Quaternary structure:
    • Homopentamer (in vitro). Interacts with GLRB (PubMed:16144831). Heteropentamer composed of GLRA2 and GLRB. Both homopentamers and heteropentamers form functional ion channels, but their characteristics are subtly different (PubMed:15302677).
    Miscellaneous:
    • The alpha subunit binds strychnine.

    Alternative splice isoforms for GLRA2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GLRA2 Gene

Post-translational modifications for GLRA2 Gene

  • Glycosylation at Asn72 and isoforms=3, 2103
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for GLRA2 Gene

Domains & Families for GLRA2 Gene

Gene Families for GLRA2 Gene

Suggested Antigen Peptide Sequences for GLRA2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P23416

UniProtKB/Swiss-Prot:

GLRA2_HUMAN :
  • Belongs to the ligand-gated ion channel (TC 1.A.9) family. Glycine receptor (TC 1.A.9.3) subfamily. GLRA2 sub-subfamily.
Family:
  • Belongs to the ligand-gated ion channel (TC 1.A.9) family. Glycine receptor (TC 1.A.9.3) subfamily. GLRA2 sub-subfamily.
genes like me logo Genes that share domains with GLRA2: view

Function for GLRA2 Gene

Molecular function for GLRA2 Gene

GENATLAS Biochemistry:
glycine receptor,alpha 2 subunit
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: Note=For isoform Alpha-2* homopentamers, a concentration of about 66 uM glycine results in half-maximal channel conductance. For isoform Alpha-2B homopentamers, a concentration of about 34 uM glycine results in half-maximal channel conductance.;
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by strychnine (PubMed:2155780, PubMed:15302677). Inhibited by picrotoxin (PubMed:15302677). Channel activity is potentiated by 10-100 uM Zn(2+) (PubMed:15302677, PubMed:16144831, PubMed:23895467). Channel activity is marginally increased by 50 mM ethanol; it is strongly increased by a combination of 0.5 uM Zn(2+) and 50 mM ethanol (PubMed:23895467). Channel activity is inhibited by 100-1000 uM Zn(2+) (PubMed:15302677).
UniProtKB/Swiss-Prot Function:
Glycine receptors are ligand-gated chloride channels. Channel opening is triggered by extracellular glycine (PubMed:2155780, PubMed:15302677, PubMed:16144831, PubMed:23895467, PubMed:25445488). Channel opening is also triggered by taurine and beta-alanine (PubMed:15302677). Plays a role in the down-regulation of neuronal excitability. Contributes to the generation of inhibitory postsynaptic currents (PubMed:25445488). Plays a role in cellular responses to ethanol (PubMed:23895467).

Gene Ontology (GO) - Molecular Function for GLRA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005254 chloride channel activity IEA --
GO:0016594 glycine binding IDA 2155780
GO:0016934 extracellular-glycine-gated chloride channel activity IDA 2155780
GO:0022824 transmitter-gated ion channel activity IEA --
GO:0022852 glycine-gated chloride ion channel activity IDA 23895467
genes like me logo Genes that share ontologies with GLRA2: view
genes like me logo Genes that share phenotypes with GLRA2: view

Animal Models for GLRA2 Gene

MGI Knock Outs for GLRA2:

Animal Model Products

  • Taconic Biosciences Mouse Models for GLRA2

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GLRA2 Gene

Localization for GLRA2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GLRA2 Gene

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

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 GLRA2 gene
Compartment Confidence
plasma membrane 5
extracellular 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for GLRA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IDA 2155780
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with GLRA2: view

Pathways & Interactions for GLRA2 Gene

genes like me logo Genes that share pathways with GLRA2: view

Pathways by source for GLRA2 Gene

Gene Ontology (GO) - Biological Process for GLRA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006821 chloride transport IEA --
GO:0007165 signal transduction IEA --
GO:0007218 neuropeptide signaling pathway IDA 2155780
genes like me logo Genes that share ontologies with GLRA2: view

No data available for SIGNOR curated interactions for GLRA2 Gene

Drugs & Compounds for GLRA2 Gene

(29) Drugs for GLRA2 Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ethanol Approved Pharma Target, agonist 2137
Lindane Approved, Withdrawn Pharma Target, antagonist 0
Glycine Approved, Vet_approved Nutra Full agonist, Agonist, Target 232
Colchicine Approved Pharma Antagonist, binder Tubulin Inhibitor, Inhibitor of tubulin 115
Tropisetron Approved, Investigational Pharma Antagonist, antagonist 22

(3) Additional Compounds for GLRA2 Gene - From: IUPHAR, Novoseek, and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Delta<sup>9</sup>-tetrahydrocannabinol
Partial agonist, Agonist
Chloride ion
  • Bertholite
  • Chloor
  • Chlor
  • Chlore
  • Chloride
16887-00-6

(5) Tocris Compounds for GLRA2 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

(1) ApexBio Compounds for GLRA2 Gene

Compound Action Cas Number
Hypotaurine 300-84-5
genes like me logo Genes that share compounds with GLRA2: view

Drug Products

Transcripts for GLRA2 Gene

mRNA/cDNA for GLRA2 Gene

Unigene Clusters for GLRA2 Gene

Glycine receptor, alpha 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for GLRA2 Gene

No ASD Table

Relevant External Links for GLRA2 Gene

GeneLoc Exon Structure for
GLRA2
ECgene alternative splicing isoforms for
GLRA2

Expression for GLRA2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GLRA2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GLRA2 Gene

This gene is overexpressed in Brain - Hypothalamus (x10.5), Brain - Cerebellar Hemisphere (x8.0), Brain - Cerebellum (x6.7), Brain - Amygdala (x5.7), and Brain - Anterior cingulate cortex (BA24) (x4.0).

Protein differential expression in normal tissues from HIPED for GLRA2 Gene

This gene is overexpressed in Fetal Brain (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GLRA2 Gene



Protein tissue co-expression partners for GLRA2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GLRA2 Gene:

GLRA2

SOURCE GeneReport for Unigene cluster for GLRA2 Gene:

Hs.2700

Evidence on tissue expression from TISSUES for GLRA2 Gene

  • Nervous system(4.8)
  • Kidney(2.5)
genes like me logo Genes that share expression patterns with GLRA2: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GLRA2 Gene

Orthologs for GLRA2 Gene

This gene was present in the common ancestor of animals.

Orthologs for GLRA2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GLRA2 34 35
  • 99.85 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GLRA2 35
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GLRA2 34 35
  • 94.91 (n)
rat
(Rattus norvegicus)
Mammalia LOC100910572 34
  • 93.22 (n)
cow
(Bos Taurus)
Mammalia GLRA2 34 35
  • 92.99 (n)
mouse
(Mus musculus)
Mammalia Glra2 34 16 35
  • 92.85 (n)
oppossum
(Monodelphis domestica)
Mammalia GLRA2 35
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves GLRA2 34 35
  • 85.55 (n)
lizard
(Anolis carolinensis)
Reptilia GLRA2 35
  • 94 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia glra2 34
  • 80.74 (n)
zebrafish
(Danio rerio)
Actinopterygii glra2 34 35
  • 71.16 (n)
fruit fly
(Drosophila melanogaster)
Insecta Rdl 36
  • 46 (a)
GluClalpha 36
  • 43 (a)
CG8916 36
  • 41 (a)
ort 36
  • 41 (a)
CG6927 36
  • 31 (a)
CG7589 36
  • 31 (a)
CG11340 36
  • 30 (a)
worm
(Caenorhabditis elegans)
Secernentea glc-3 36
  • 45 (a)
avr-14 36
  • 40 (a)
glc-1 36
  • 39 (a)
T24D8.1 36
  • 38 (a)
C39B10.2 36
  • 37 (a)
F11H8.2 36
  • 37 (a)
glc-2 36
  • 37 (a)
F55D10.5 36
  • 36 (a)
gbr-5 36
  • 36 (a)
Y39A3B.2 36
  • 36 (a)
gbr-4 36
  • 34 (a)
glc-4 36
  • 32 (a)
gbr-6 36
  • 31 (a)
C53D6.3 36
  • 30 (a)
F58G6.4 36
  • 30 (a)
K10D6.1 36
  • 30 (a)
W10G11.16 36
  • 30 (a)
Y71D11A.5 36
  • 30 (a)
T20B12.9 36
  • 29 (a)
T27E9.9 36
  • 29 (a)
Y73F8A.2 36
  • 29 (a)
F09G2.5 36
  • 28 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 59 (a)
OneToMany
Species where no ortholog for GLRA2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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 GLRA2 Gene

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

Paralogs for GLRA2 Gene

genes like me logo Genes that share paralogs with GLRA2: view

Variants for GLRA2 Gene

Sequence variations from dbSNP and Humsavar for GLRA2 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs1000004573 -- 14,465,434(+) TGGAT(A/G)CCCTT intron-variant
rs1000006240 -- 14,497,850(+) CTGTT(C/T)CCATG intron-variant
rs1000013699 -- 14,519,696(+) GAAAC(A/G)TCTTG intron-variant
rs1000017229 -- 14,675,222(+) GAGTG(C/T)CCCTA intron-variant
rs1000026371 -- 14,713,130(+) AGAAT(C/T)TGGCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GLRA2 Gene

Variant ID Type Subtype PubMed ID
dgv502n21 CNV gain 19592680
esv1737273 CNV insertion 17803354
esv27338 CNV loss 19812545
esv2739975 CNV deletion 23290073
esv2739976 CNV deletion 23290073
esv3397621 OTHER inversion 20981092
esv3435574 OTHER inversion 20981092
nsv507947 OTHER sequence alteration 20534489
nsv518002 CNV gain 19592680
nsv518062 CNV gain 19592680
nsv520933 CNV gain 19592680
nsv522625 CNV gain 19592680
nsv526475 CNV gain 19592680
nsv6810 CNV deletion 18451855
nsv6811 CNV insertion 18451855
nsv9934 CNV loss 18304495

Variation tolerance for GLRA2 Gene

Residual Variation Intolerance Score: 23.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.46; 10.10% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GLRA2 Gene

Human Gene Mutation Database (HGMD)
GLRA2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GLRA2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GLRA2 Gene

Disorders for GLRA2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for GLRA2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
rett syndrome
  • rett syndrome, preserved speech variant
- elite association - COSMIC cancer census association via MalaCards
Search GLRA2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for GLRA2

Genetic Association Database (GAD)
GLRA2
Human Genome Epidemiology (HuGE) Navigator
GLRA2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GLRA2
genes like me logo Genes that share disorders with GLRA2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GLRA2 Gene

Publications for GLRA2 Gene

  1. Structure of the human alpha 2 subunit gene of the glycine receptor: use of vectorette and Alu-exon PCR. (PMID: 8973915) Monani U.R. … Burghes A.H.M. (Genome Res. 1996) 3 4 22 64
  2. Zinc-dependent modulation of alpha2- and alpha3-glycine receptor subunits by ethanol. (PMID: 23895467) McCracken L.M. … Harris R.A. (Alcohol. Clin. Exp. Res. 2013) 3 4 64
  3. 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. (PMID: 19086053) GratacA^s M. … Carracedo A. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009) 3 46 64
  4. Genetical genomic determinants of alcohol consumption in rats and humans. (PMID: 19874574) Tabakoff B. … Hoffman P.L. (BMC Biol. 2009) 3 46 64
  5. Molecular basis for zinc potentiation at strychnine-sensitive glycine receptors. (PMID: 16144831) Miller P.S. … Smart T.G. (J. Biol. Chem. 2005) 3 4 64

Products for GLRA2 Gene

  • Addgene plasmids for GLRA2

Sources for GLRA2 Gene

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