Gene Gene information from NCBI Gene database.
Entrez ID 2742
Gene name Glycine receptor alpha 2
Gene symbol GLRA2
Synonyms (NCBI Gene)
GLRMRXSP
Chromosome X
Chromosome location Xp22.2
Summary 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.[pro
miRNA miRNA information provided by mirtarbase database.
124
miRTarBase ID miRNA Experiments Reference
MIRT017796 hsa-miR-335-5p Microarray 18185580
MIRT607151 hsa-miR-7705 HITS-CLIP 23824327
MIRT607150 hsa-miR-223-5p HITS-CLIP 23824327
MIRT607149 hsa-miR-6867-5p HITS-CLIP 23824327
MIRT607148 hsa-miR-574-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
38
GO ID Ontology Definition Evidence Reference
GO:0004888 Function Transmembrane signaling receptor activity IEA
GO:0005216 Function Monoatomic ion channel activity IEA
GO:0005230 Function Extracellular ligand-gated monoatomic ion channel activity IEA
GO:0005231 Function Excitatory extracellular ligand-gated monoatomic ion channel activity IBA
GO:0005254 Function Chloride channel activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
305990 4327 ENSG00000101958
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P23416
Protein name Glycine receptor subunit alpha-2
Protein function Subunit of heteromeric glycine-gated chloride channels (PubMed:15302677, PubMed:16144831, PubMed:2155780, PubMed:23895467, PubMed:25445488, PubMed:26370147, PubMed:34473954). Plays a role in synaptic plasticity (By similarity). Contributes to th
PDB 5BKF , 5BKG , 7KUY , 7L31
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02931 Neur_chan_LBD 44 254 Neurotransmitter-gated ion-channel ligand binding domain Family
PF02932 Neur_chan_memb 261 371 Neurotransmitter-gated ion-channel transmembrane region Family
Sequence
Sequence length 452
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Neuroactive ligand-receptor interaction   Neurotransmitter receptors and postsynaptic signal transmission
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
28
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Intellectual developmental disorder, X-linked, syndromic, Pilorge type Likely pathogenic; Pathogenic rs2147096455, rs1276905604, rs2147065620, rs761094724, rs1601761445 RCV002283559
RCV002248342
RCV002248344
RCV002248345
RCV002249606
See cases Likely pathogenic; Pathogenic rs2146999184, rs2147096455, rs768735440, rs370575329, rs1601761445 RCV001810525
RCV001813919
RCV001813920
RCV001813921
RCV001809885
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Colon adenocarcinoma Benign rs752610633 RCV005870059
GLRA2-related disorder Uncertain significance; Likely benign; Benign rs2518815049, rs199797447, rs2518519417, rs144022438, rs140244800, rs1601838228, rs752610633, rs78179793 RCV003410589
RCV003923864
RCV003916914
RCV003934583
RCV003947323
RCV003947196
RCV003969639
RCV003978380
Nonpapillary renal cell carcinoma Uncertain significance rs2518519417 RCV005936991
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Ischemia Associate 29138828
Myocardial Infarction Associate 29138828
Reperfusion Injury Associate 29138828