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Gene Gene information from NCBI Gene database.
Entrez ID 2570
Gene name Gamma-aminobutyric acid type A receptor subunit rho2
Gene symbol GABRR2
Synonyms (NCBI Gene)
-
Chromosome 6
Chromosome location 6q15
Summary 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.
146 Show/Hide all (146)
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
32 Show/Hide all (32)
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
137162 4091 ENSG00000111886
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 Pathway Reactome Pathway
Neuroactive ligand-receptor interaction GABA receptor activation
Retrograde endocannabinoid signaling  
GABAergic synapse  
Morphine addiction  
Nicotine addiction  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (7)
Phenotype Name Clinical Significance Source Reference Evidence Score
AUTISTIC DISORDER — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHY — GWAS catalog 29703844
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LIVER DISEASES — CTD, Disgenet
CTD, Disgenet
19784758
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER — GWAS catalog 35330412
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (8)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Autistic Disorder Autism Pubtator 16080114 Associate
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bipolar Disorder Bipolar Disorder PSYGENET_DG 20889312
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cognition Disorders Cognition disorder Pubtator 26922432 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Epilepsy Epilepsy BEFREE 21420396
★★★★★
★☆☆☆☆
Found in Text Mining only
Essential Tremor Tremor BEFREE 20820800
★★★★★
★☆☆☆☆
Found in Text Mining only
Migraine Disorders Migraine BEFREE 28699326
★★★★★
★☆☆☆☆
Found in Text Mining only
Restless Legs Syndrome Restless Legs Syndrome BEFREE 29720720
★★★★★
★☆☆☆☆
Found in Text Mining only
Retinitis Pigmentosa Retinitis pigmentosa Pubtator 9585594 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only