Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8001
Gene name Gene Name - the full gene name approved by the HGNC.
Glycine receptor alpha 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GLRA3
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q34.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the ligand-gated ion channel protein family. The encoded protein is a member of the glycine receptor subfamily. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT688096 hsa-miR-4311 HITS-CLIP 23313552
MIRT688095 hsa-miR-6867-5p HITS-CLIP 23313552
MIRT688094 hsa-miR-6818-5p HITS-CLIP 23313552
MIRT688093 hsa-miR-574-5p HITS-CLIP 23313552
MIRT490501 hsa-miR-6758-5p PAR-CLIP 23592263
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600421 4328 ENSG00000145451
Protein
UniProt ID O75311
Protein name Glycine receptor subunit alpha-3
Protein function Glycine receptors are ligand-gated chloride channels. Channel opening is triggered by extracellular glycine (PubMed:26416729, PubMed:9677400). Channel characteristics depend on the subunit composition; heteropentameric channels display faster ch
PDB 5CFB , 5TIN , 5TIO , 5VDH , 5VDI , 9BU2 , 9BU3 , 9BVH , 9BVJ , 9BWB , 9BWC , 9BWE , 9BWG , 9BWJ , 9BZP
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02931 Neur_chan_LBD 43 253 Neurotransmitter-gated ion-channel ligand binding domain Family
PF02932 Neur_chan_memb 260 382 Neurotransmitter-gated ion-channel transmembrane region Family
Tissue specificity TISSUE SPECIFICITY: Widely distributed throughout the central nervous system. {ECO:0000269|PubMed:9677400}.
Sequence
Sequence length 464
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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Biliary Cholangitis Primary biliary cholangitis N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Autistic Disorder Associate 15090072
Diabetes Mellitus Type 2 Associate 36949158
Diabetic Nephropathies Associate 36949158
Hyperekplexia Associate 28174298
Hyperexplexia hereditary Associate 28174298
Obesity Associate 25963547
Stiff Person Syndrome Associate 28174298