Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2570
Gene name Gene Name - the full gene name approved by the HGNC.
Gamma-aminobutyric acid type A receptor subunit rho2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GABRR2
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q15
Summary Summary of gene provided in NCBI Entrez Gene.
Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA receptors, which are ligand-gated chloride channels. The protein encoded by this gene is a member of the rho subunit family and is a compo
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT453919 hsa-miR-302f PAR-CLIP 21572407
MIRT453918 hsa-miR-1910-3p PAR-CLIP 21572407
MIRT453917 hsa-miR-6511a-5p PAR-CLIP 21572407
MIRT453913 hsa-miR-4257 PAR-CLIP 21572407
MIRT453912 hsa-miR-4768-3p PAR-CLIP 21572407
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:0004890 Function GABA-A receptor activity IBA
GO:0004890 Function GABA-A receptor activity IEA
GO:0004890 Function GABA-A receptor activity ISS
GO:0004890 Function GABA-A receptor activity TAS 1315307
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
137162 4091 ENSG00000111886
Protein
UniProt ID P28476
Protein name Gamma-aminobutyric acid receptor subunit rho-2 (GABA(A) receptor subunit rho-2) (GABAAR subunit rho-2) (GABA(C) receptor)
Protein function Rho subunit of the pentameric ligand-gated chloride channels responsible for mediating the effects of gamma-aminobutyric acid (GABA), the major inhibitory neurotransmitter in the brain (By similarity). Rho-containing GABA-gated chloride channels
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02931 Neur_chan_LBD 55 261 Neurotransmitter-gated ion-channel ligand binding domain Family
PF02932 Neur_chan_memb 268 409 Neurotransmitter-gated ion-channel transmembrane region Family
Sequence
Sequence length 465
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Neuroactive ligand-receptor interaction
Retrograde endocannabinoid signaling
GABAergic synapse
Morphine addiction
Nicotine addiction
  GABA receptor activation
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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
Diabetes Early diabetic kidney disease in type 2 diabetes, Diabetic kidney disease in type 2 diabetes N/A N/A GWAS
Systemic lupus erythematosus Systemic lupus erythematosus N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Autistic Disorder Associate 16080114
Cognition Disorders Associate 26922432
Retinitis Pigmentosa Associate 9585594