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GABRR2  -  gamma-aminobutyric acid (GABA) A receptor,...

Homo sapiens

Synonyms: GABA(A) receptor subunit rho-2, GABA(C) receptor, Gamma-aminobutyric acid receptor subunit rho-2
 
 
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High impact information on GABRR2

  • Significant allelic association was found for markers RS1912960 (in GABRA4; P = .01) and HCV9866022 (in GABRR2; P = .04) [1].
  • This region contains subunits GABRR1 and GABRR2 of the GABA-C receptor, which is the effector of lateral inhibition at the retina [2].
  • Mutation analysis of GABRR1 and GABRR2 in autosomal recessive retinitis pigmentosa [3].
 

Biological context of GABRR2

 

Associations of GABRR2 with chemical compounds

 

Other interactions of GABRR2

  • We have mapped, in detail, the human genes which encode the three polypeptides that comprise this receptor: rho1 (GABRR1), rho2 (GABRR2) and rho3 (GABRR3) [5].

References

  1. Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism. Ma, D.Q., Whitehead, P.L., Menold, M.M., Martin, E.R., Ashley-Koch, A.E., Mei, H., Ritchie, M.D., Delong, G.R., Abramson, R.K., Wright, H.H., Cuccaro, M.L., Hussman, J.P., Gilbert, J.R., Pericak-Vance, M.A. Am. J. Hum. Genet. (2005) [Pubmed]
  2. A major locus for autosomal recessive retinitis pigmentosa on 6q, determined by homozygosity mapping of chromosomal regions that contain gamma-aminobutyric acid-receptor clusters. Ruiz, A., Borrego, S., Marcos, I., Antiñolo, G. Am. J. Hum. Genet. (1998) [Pubmed]
  3. Mutation analysis of GABRR1 and GABRR2 in autosomal recessive retinitis pigmentosa. Marcos, I., Ruiz, A., Blaschak, C.J., Borrego, S., Cutting, G.R., Antinolo, G. J. Med. Genet. (2000) [Pubmed]
  4. Identification of a putative gamma-aminobutyric acid (GABA) receptor subunit rho2 cDNA and colocalization of the genes encoding rho2 (GABRR2) and rho1 (GABRR1) to human chromosome 6q14-q21 and mouse chromosome 4. Cutting, G.R., Curristin, S., Zoghbi, H., O'Hara, B., Seldin, M.F., Uhl, G.R. Genomics (1992) [Pubmed]
  5. Genetic linkage and radiation hybrid mapping of the three human GABA(C) receptor rho subunit genes: GABRR1, GABRR2 and GABRR3. Bailey, M.E., Albrecht, B.E., Johnson, K.J., Darlison, M.G. Biochim. Biophys. Acta (1999) [Pubmed]
 
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