GABRG2
Identifiers
AliasesGABRG2, CAE2, ECA2, GEFSP3, gamma-aminobutyric acid type A receptor gamma2 subunit, EIEE74, FEB8
External IDsOMIM: 137164 MGI: 95623 HomoloGene: 22443 GeneCards: GABRG2
Orthologs
SpeciesHumanMouse
Entrez

2566

14406

Ensembl

ENSG00000113327

ENSMUSG00000020436

UniProt

P18507

P22723

RefSeq (mRNA)

NM_198904
NM_000816
NM_198903

NM_008073
NM_177408
NM_001362655
NM_001362656

RefSeq (protein)

NP_032099
NP_803127
NP_001349584
NP_001349585

Location (UCSC)Chr 5: 162 – 162.16 MbChr 11: 41.8 – 41.89 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Gamma-aminobutyric acid receptor subunit gamma-2 is a protein that in humans is encoded by the GABRG2 gene.

Function

Gamma-aminobutyric acid (GABA), the major inhibitory neurotransmitter in the brain, mediates neuronal inhibition by binding to GABA receptors. The type A GABA receptors are pentameric chloride channels assembled from among many genetic variants of GABA(A) subunits. This gene encodes the gamma 2 subunit of GABA(A) receptor. Mutations in this gene have been associated with epilepsy and febrile seizures. Alternative splicing of this gene results in transcript variants encoding different isoforms.[5]

Interactions

GABRG2 has been shown to interact with GABARAP[6][7][8] and Dopamine receptor D5.[9]

See also

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000113327 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000020436 - 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: GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2".
  6. Nymann-Andersen J, Wang H, Chen L, Kittler JT, Moss SJ, Olsen RW (March 2002). "Subunit specificity and interaction domain between GABA(A) receptor-associated protein (GABARAP) and GABA(A) receptors". Journal of Neurochemistry. 80 (5): 815–823. doi:10.1046/j.0022-3042.2002.00762.x. PMID 11948245. S2CID 38049055.
  7. Coyle JE, Qamar S, Rajashankar KR, Nikolov DB (January 2002). "Structure of GABARAP in two conformations: implications for GABA(A) receptor localization and tubulin binding". Neuron. 33 (1): 63–74. doi:10.1016/S0896-6273(01)00558-X. PMID 11779480. S2CID 14487823.
  8. Wang H, Bedford FK, Brandon NJ, Moss SJ, Olsen RW (January 1999). "GABA(A)-receptor-associated protein links GABA(A) receptors and the cytoskeleton". Nature. 397 (6714): 69–72. doi:10.1038/16264. PMID 9892355. S2CID 204990449.
  9. Liu F, Wan Q, Pristupa ZB, Yu XM, Wang YT, Niznik HB (January 2000). "Direct protein-protein coupling enables cross-talk between dopamine D5 and gamma-aminobutyric acid A receptors". Nature. 403 (6767): 274–280. Bibcode:2000Natur.403..274L. doi:10.1038/35002014. PMID 10659839. S2CID 4415918.

Further reading

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

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