GABRG3

GABRG3
Identifiers
Aliases	GABRG3, gamma-aminobutyric acid type A receptor gamma3 subunit, gamma-aminobutyric acid type A receptor subunit gamma3
External IDs	OMIM: 600233; MGI: 95624; HomoloGene: 22444; GeneCards: GABRG3; OMA:GABRG3 - orthologs
Gene location (Human) Chr. Chromosome 15 (human)[1] Band 15q12 Start 26,971,181 bp[1] End 27,541,984 bp[1]
Gene location (Mouse) Chr. Chromosome 7 (mouse)[2] Band 7 B5|7 33.48 cM Start 56,366,213 bp[2] End 57,036,936 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in testicle right testis left testis prefrontal cortex gonad anterior pituitary sperm Brodmann area 9 Hypothalamus cingulate gyrus 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 More reference expression data BioGPS More reference expression data
Gene ontology 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
Orthologs Species Human Mouse Entrez 2567 14407 Ensembl ENSG00000182256 ENSMUSG00000055026 UniProt Q99928 P27681 RefSeq (mRNA) NM_001270873 NM_033223 NM_008074 NM_177273 RefSeq (protein) NP_001257802 NP_150092 NP_032100 Location (UCSC) Chr 15: 26.97 – 27.54 Mb Chr 7: 56.37 – 57.04 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

GABA_A 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 GABA_A 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

• GABAA receptor

References

1. GRCh38: Ensembl release 89: ENSG00000182256 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000055026 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: GABRG3 gamma-aminobutyric acid (GABA) A receptor, gamma 3".
6. 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

• GABRG3+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.