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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, 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 Peptide ligand-binding receptors 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 GABRR1.

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 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

Proteomics data for GLRA2 Gene at MOPED

Post-translational modifications for GLRA2 Gene

  • Glycosylation at Asn 72 and Asn 103
  • Modification sites at PhosphoSitePlus

Other Protein References for GLRA2 Gene

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:0016594 glycine binding IDA 2155780
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

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
Jensen Localization Image for GLRA2 Gene COMPARTMENTS Subcellular localization image for GLRA2 gene
Compartment Confidence
plasma membrane 5
cytosol 1
extracellular 1
lysosome 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for GLRA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
GO:0042995 cell projection 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

Interacting Proteins for GLRA2 Gene

Gene Ontology (GO) - Biological Process for GLRA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0007218 neuropeptide signaling pathway IDA 2155780
GO:0043200 response to amino acid IBA --
GO:0055085 transmembrane transport TAS --
GO:0060012 synaptic transmission, glycinergic IBA --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glycine Approved Nutra Full agonist, Agonist, Target Endogenous potentiator, co-transmitter 197
Ethanol Approved Pharma Target, agonist 1924
Lindane Approved, Withdrawn Pharma Target, antagonist 0
Colchicine Approved Pharma Antagonist, binder Tubulin Inhibitor, Inhibitor of tubulin 105
L-Alanine Approved Nutra Full agonist, Agonist Glycine receptor agonist 0

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

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
Hypotaurine
  • 2-Amino-Ethanesulfinate
  • 2-Amino-Ethanesulfinic acid
  • 2-Aminoethanesulfinate
  • 2-Aminoethanesulfinic acid
  • 2-Aminoethylsulfinate
300-84-5

(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
Glycine Endogenous potentiator, co-transmitter 56-40-6
Hypotaurine Non-selective endogenous glycine receptor agonist 300-84-5
L-Alanine Glycine receptor agonist 56-41-7
Taurine Non-selective, endogenous glycine receptor partial agonist 107-35-7
genes like me logo Genes that share compounds with GLRA2: view

Transcripts for GLRA2 Gene

mRNA/cDNA for GLRA2 Gene

Unigene Clusters for GLRA2 Gene

Glycine receptor, alpha 2:
Representative Sequences:

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 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



SOURCE GeneReport for Unigene cluster for GLRA2 Gene Hs.2700

genes like me logo Genes that share expression patterns with GLRA2: view

Protein tissue co-expression partners for GLRA2 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia GLRA2 35
  • 92.99 (n)
  • 98.01 (a)
GLRA2 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GLRA2 35
  • 94.91 (n)
  • 99.78 (a)
GLRA2 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Glra2 35
  • 92.85 (n)
  • 98.67 (a)
Glra2 16
Glra2 36
  • 99 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GLRA2 35
  • 99.85 (n)
  • 99.78 (a)
GLRA2 36
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GLRA2 36
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GLRA2 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC100910572 35
  • 93.22 (n)
  • 99.12 (a)
chicken
(Gallus gallus)
Aves GLRA2 35
  • 85.55 (n)
  • 96.02 (a)
GLRA2 36
  • 96 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GLRA2 36
  • 94 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia glra2 35
  • 80.74 (n)
  • 92.89 (a)
zebrafish
(Danio rerio)
Actinopterygii glra2 35
  • 71.16 (n)
  • 83.15 (a)
glra2 36
  • 76 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG11340 37
  • 30 (a)
CG6927 37
  • 31 (a)
CG7589 37
  • 31 (a)
CG8916 37
  • 41 (a)
GluClalpha 37
  • 43 (a)
ort 37
  • 41 (a)
Rdl 37
  • 46 (a)
worm
(Caenorhabditis elegans)
Secernentea avr-14 37
  • 40 (a)
C39B10.2 37
  • 37 (a)
C53D6.3 37
  • 30 (a)
F09G2.5 37
  • 28 (a)
F11H8.2 37
  • 37 (a)
F55D10.5 37
  • 36 (a)
F58G6.4 37
  • 30 (a)
gbr-4 37
  • 34 (a)
gbr-5 37
  • 36 (a)
gbr-6 37
  • 31 (a)
glc-3 37
  • 45 (a)
glc-4 37
  • 32 (a)
K10D6.1 37
  • 30 (a)
T20B12.9 37
  • 29 (a)
T24D8.1 37
  • 38 (a)
T27E9.9 37
  • 29 (a)
W10G11.16 37
  • 30 (a)
Y39A3B.2 37
  • 36 (a)
Y71D11A.5 37
  • 30 (a)
Y73F8A.2 37
  • 29 (a)
glc-2 37
  • 37 (a)
glc-1 37
  • 39 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 59 (a)
OneToMany
Species with no ortholog for GLRA2:
  • 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
rs747676079 -- 14,579,184(+) GTGCT(A/G)TAACT intron-variant
rs747680273 -- 14,482,061(+) GCTTT(A/G)AATCC intron-variant
rs747681983 -- 14,489,494(+) GGAAA(C/G)AGACT intron-variant
rs747687278 -- 14,608,840(+) GAAGA(C/G)TTGAA intron-variant
rs747701220 -- 14,460,819(+) GATTC(A/G)TTGAT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv526475 CNV Gain 19592680
nsv522625 CNV Gain 19592680
nsv518002 CNV Gain 19592680
nsv518062 CNV Gain 19592680
nsv6810 CNV Loss 18451855
dgv502n21 CNV Gain 19592680
nsv520933 CNV Gain 19592680
nsv507947 CNV Insertion 20534489
nsv6811 CNV Insertion 18451855
esv27338 CNV Loss 19812545
esv1737273 CNV Insertion 17803354
esv2739975 CNV Deletion 23290073
esv2739976 CNV Deletion 23290073
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

HapMap Linkage Disequilibrium report
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 23 67
  2. 3D structure and allosteric modulation of the transmembrane domain of pentameric ligand-gated ion channels. (PMID: 20713066) Baenziger J.E. … Corringer P.J. (Neuropharmacology 2011) 25 26
  3. Dual actions of lindane (I^-hexachlorocyclohexane) on calcium homeostasis and exocytosis in rat PC12 cells. (PMID: 20600211) Heusinkveld H.J. … Westerink R.H. (Toxicol. Appl. Pharmacol. 2010) 25 26
  4. Glycine receptors of A-type ganglion cells of the mouse retina. (PMID: 17550639) Majumdar S. … WAossle H. (Vis. Neurosci. 2007) 25 26
  5. A proposed structural basis for picrotoxinin and picrotin binding in the glycine receptor pore. (PMID: 17714449) Yang Z. … Lynch J.W. (J. Neurochem. 2007) 25 26

Products for GLRA2 Gene

Sources for GLRA2 Gene

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