GABRQ (gamma-aminobutyric acid type A receptor subunit theta)

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Gene Gene information from NCBI Gene database.
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Entrez ID 55879
Gene name Gamma-aminobutyric acid type A receptor subunit theta
Gene symbol GABRQ
Synonyms (NCBI Gene)
THETA
Chromosome X
Chromosome location Xq28
Summary The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes the theta subunit of the GABA A receptor. The gene is mapped to ch
miRNA miRNA information provided by mirtarbase database.
1
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miRTarBase ID miRNA Experiments Reference
MIRT017369 hsa-miR-335-5p Microarray 18185580
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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GO ID Ontology Definition Evidence Reference
GO:0004888 Function Transmembrane signaling receptor activity IEA
GO:0004888 Function Transmembrane signaling receptor activity TAS 10449790
GO:0004890 Function GABA-A receptor activity IBA
GO:0004890 Function GABA-A receptor activity IDA 16412217
GO:0004890 Function GABA-A receptor activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
300349 14454 ENSG00000268089
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UN88
Protein name Gamma-aminobutyric acid receptor subunit theta (GABA(A) receptor subunit theta) (GABAAR subunit theta)
Protein function Theta subunit of the heteropentameric ligand-gated chloride channel gated by gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the brain (PubMed:10449790, PubMed:16412217). GABA-gated chloride channels, also named GABA(A) re
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02931 Neur_chan_LBD 59 → 265 Neurotransmitter-gated ion-channel ligand binding domain Family
PF02932 Neur_chan_memb 272 → 579 Neurotransmitter-gated ion-channel transmembrane region Family
Tissue specificity TISSUE SPECIFICITY: Expressed in brain. {ECO:0000269|PubMed:10449790, ECO:0000269|PubMed:10804200}.
Sequence 
MGIRGMLRAAVILLLIRTWLAEGNYPSPIPKFHFEFSSAVPEVVLNLFNCKNCANEAVVQ
KILDRVLSRYDVRLRPNFGGAPVPVRISIYVTSIEQISEMNMDYTITMFFHQTWKDSRLA
YYETTLNLTLDYRMHEKLWVPDCYFLNSKDAFVHDVTVENRVFQLHPDGTVRYGIRLTTT
AACSLDLHKFPMDKQACNLVVESYGYTVEDIILFWDDNGNAIHMTEELHIPQFTFLGRTI
TSKEVYFYTGSYIRLILKFQVQREVNSYLVQVYWPTVLTTITSWISFWMNYDSSAARVTI
GLTSMLILTTIDSHLRDKLPNISCIKAIDIYILVCLFFVFLSLLEYVYINYLFYSRGPRR
QPRRHRRPRRVIARYRYQQVVVGNVQDGLINVEDGVSSLPITPAQAPLASPESLGSLTST
SEQAQLATSESLSPLTSLSGQAPLATGESLSDLPSTSEQARHSYGVRFNGFQADDSIFPT
EIRNRVEAHGHGVTHDHEDSNESLSSDERHGHGPSGKPMLHHGEKGVQEAGWDLDDNNDK
SDCLAIKEQFKCDTNSTWGLNDDELMAHGQEKDSSSESEDSCPPSPGCSFTEGFSFDLFN
PDYVPKVDKWSRFLFPLAFGLFNIVYWVYHMY
Sequence length 632
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
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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.).
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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.
Phenotype Name Clinical Significance Source Reference Evidence Score
GABRQ-related disorder Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1 Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (28)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 35152451 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder BEFREE 31219261
★★★★★
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety Disorder BEFREE 31219261
★★★★★
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 10840461, 11862323
★★★★★
★☆☆☆☆
Found in Text Mining only
ATRIAL SEPTAL DEFECT 1 Atrial Septal Defect GENOMICS_ENGLAND_DG 26350204
★★★★★
★☆☆☆☆
Found in Text Mining only
Atrial Septal Defects Atrial Septal Defect GENOMICS_ENGLAND_DG 26350204
★★★★★
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorder Autism Pubtator 33772085 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorders Autism Spectrum Disorder GENOMICS_ENGLAND_DG 26350204
★★★★★
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 10840461
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 23999848
★★★★★
★☆☆☆☆
Found in Text Mining only
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GABRR3 5 shared pathwaysRetrograde endocannabinoid signaling, GABAergic synapse, Morphine addiction, Nicotine addiction, GABA receptor activation Related via 5 shared pathways including Retrograde endocannabinoid signaling, GABAergic synapse. GABRG2 5 shared pathwaysRetrograde endocannabinoid signaling, GABAergic synapse, Morphine addiction, Nicotine addiction, GABA receptor activation Related via 5 shared pathways including Retrograde endocannabinoid signaling, GABAergic synapse. GABRG3 5 shared pathwaysRetrograde endocannabinoid signaling, GABAergic synapse, Morphine addiction, Nicotine addiction, GABA receptor activation Related via 5 shared pathways including Retrograde endocannabinoid signaling, GABAergic synapse. GABRR1 5 shared pathwaysRetrograde endocannabinoid signaling, GABAergic synapse, Morphine addiction, Nicotine addiction, GABA receptor activation Related via 5 shared pathways including Retrograde endocannabinoid signaling, GABAergic synapse. GABRR2 5 shared pathwaysRetrograde endocannabinoid signaling, GABAergic synapse, Morphine addiction, Nicotine addiction, GABA receptor activation Related via 5 shared pathways including Retrograde endocannabinoid signaling, GABAergic synapse.
Parkinson disease Linked via 2 of 5 related genesGABRG2, GABRG3 Schizophrenia Linked via 2 of 5 related genesGABRG2, GABRR1 Bipolar disorder Linked via 2 of 5 related genesGABRR1, GABRR2 Diabetic neuropathy Linked via 2 of 5 related genesGABRR1, GABRR2 Amphetamine or sympathomimetic abuse Linked via 1 of 5 related genesGABRG2