Protein-coding gene in the species Homo sapiens
| GABRG3 |
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| Identifiers |
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| Aliases | GABRG3, gamma-aminobutyric acid type A receptor gamma3 subunit, gamma-aminobutyric acid type A receptor subunit gamma3 |
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| External IDs | OMIM: 600233; MGI: 95624; HomoloGene: 22444; GeneCards: GABRG3; OMA:GABRG3 - orthologs |
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| Gene location (Human) |
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 | | Chr. | Chromosome 15 (human)[1] |
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| | Band | 15q12 | Start | 26,971,181 bp[1] |
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| End | 27,541,984 bp[1] |
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| Gene location (Mouse) |
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 | | Chr. | Chromosome 7 (mouse)[2] |
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| | Band | 7 B5|7 33.48 cM | Start | 56,366,213 bp[2] |
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| End | 57,036,936 bp[2] |
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| RNA expression pattern |
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| Bgee | | Human | Mouse (ortholog) |
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| Top expressed in | - testicle
- right testis
- left testis
- prefrontal cortex
- gonad
- anterior pituitary
- sperm
- Brodmann area 9
- hypothalamus
- cingulate gyrus
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| | Top expressed in | - epithelium of lens
- lumbar subsegment of spinal cord
- nucleus accumbens
- superior frontal gyrus
- lateral septal nucleus
- dorsal striatum
- prefrontal cortex
- dentate gyrus of hippocampal formation granule cell
- lumbar spinal ganglion
- primary visual cortex
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| | More reference expression data |
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| BioGPS |  | | More reference expression data |
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| Gene ontology |
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| Molecular function | - chloride channel activity
- extracellular ligand-gated ion channel activity
- GABA-A receptor activity
- ion channel activity
- transmembrane signaling receptor activity
- inhibitory extracellular ligand-gated ion channel activity
- benzodiazepine receptor activity
- GABA-gated chloride ion channel activity
- transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential
| | Cellular component | - integral component of membrane
- cell junction
- plasma membrane
- postsynaptic membrane
- synapse
- membrane
- chloride channel complex
- GABA-ergic synapse
- integral component of synaptic membrane
- integral component of plasma membrane
- dendrite membrane
- neuron projection
- postsynapse
- GABA-A receptor complex
| | Biological process | - gamma-aminobutyric acid signaling pathway
- chloride transport
- chloride transmembrane transport
- ion transport
- ion transmembrane transport
- signal transduction
- chemical synaptic transmission
- regulation of membrane potential
- nervous system process
- synaptic transmission, GABAergic
- regulation of postsynaptic membrane potential
| | Sources:Amigo / QuickGO |
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| Orthologs |
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| Species | Human | Mouse |
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| Entrez | | |
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| Ensembl | | |
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| UniProt | | |
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| RefSeq (mRNA) | | |
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| RefSeq (protein) | | |
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| Location (UCSC) | Chr 15: 26.97 – 27.54 Mb | Chr 7: 56.37 – 57.04 Mb |
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| PubMed search | [3] | [4] |
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| Wikidata |
| View/Edit Human | View/Edit Mouse |
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GABAA receptor-γ3, also known as GABRG3, is a protein which in humans is encoded by the GABRG3 gene.
Function
GABRG3 is a subunit of the GABAA receptor for the neurotransmitter gamma-Aminobutyric acid (GABA).[5]
Association with alcoholism
Genetic markers near the GABRG3 gene are statistically linked to alcoholism.[6]
See also
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000182256 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000055026 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Entrez Gene: GABRG3 gamma-aminobutyric acid (GABA) A receptor, gamma 3".
- ^ Dick DM, Edenberg HJ, Xuei X, Goate A, Kuperman S, Schuckit M, Crowe R, Smith TL, Porjesz B, Begleiter H, Foroud T (January 2004). "Association of GABRG3 with alcohol dependence". Alcohol. Clin. Exp. Res. 28 (1): 4–9. CiteSeerX 10.1.1.418.2528. doi:10.1097/01.ALC.0000108645.54345.98. PMID 14745296.
Further reading
- Greger V, Knoll JH, Woolf E, et al. (1995). "The gamma-aminobutyric acid receptor gamma 3 subunit gene (GABRG3) is tightly linked to the alpha 5 subunit gene (GABRA5) on human chromosome 15q11-q13 and is transcribed in the same orientation". Genomics. 26 (2): 258–264. doi:10.1016/0888-7543(95)80209-5. PMID 7601451.
- Tögel M, Mossier B, Fuchs K, Sieghart W (1994). "gamma-Aminobutyric acidA receptors displaying association of gamma 3-subunits with beta 2/3 and different alpha-subunits exhibit unique pharmacological properties". J. Biol. Chem. 269 (17): 12993–12998. doi:10.1016/S0021-9258(18)99974-6. PMID 8175718.
- Hadingham KL, Wafford KA, Thompson SA, et al. (1996). "Expression and pharmacology of human GABAA receptors containing gamma 3 subunits". Eur. J. Pharmacol. 291 (3): 301–309. doi:10.1016/0922-4106(95)90070-5. PMID 8719414.
- Poulsen CF, Christjansen KN, Hastrup S, Hartvig L (2000). "Identification and cloning of a gamma 3 subunit splice variant of the human GABA(A) receptor". Brain Res. Mol. Brain Res. 78 (1–2): 201–203. doi:10.1016/S0169-328X(00)00085-1. PMID 10891602.
- Harrington JJ, Sherf B, Rundlett S, et al. (2001). "Creation of genome-wide protein expression libraries using random activation of gene expression". Nat. Biotechnol. 19 (5): 440–445. doi:10.1038/88107. PMID 11329013. S2CID 25064683.
- Nymann-Andersen J, Wang H, Chen L, et al. (2002). "Subunit specificity and interaction domain between GABA(A) receptor-associated protein (GABARAP) and GABA(A) receptors". J. Neurochem. 80 (5): 815–823. doi:10.1046/j.0022-3042.2002.00762.x. PMID 11948245. S2CID 38049055.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–16903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Dick DM, Edenberg HJ, Xuei X, et al. (2004). "Association of GABRG3 with alcohol dependence". Alcohol. Clin. Exp. Res. 28 (1): 4–9. CiteSeerX 10.1.1.418.2528. doi:10.1097/01.ALC.0000108645.54345.98. PMID 14745296.
- Gole L, Crolla JA, Thomas SN, et al. (2004). "Characterization of breakpoints in the GABRG3 and TSPY genes in a family with a t(Y;15)(p11.2;q12)". Am. J. Med. Genet. A. 125 (2): 177–180. doi:10.1002/ajmg.a.20482. PMID 14981720. S2CID 44727697.
External links
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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