Alternative titles; symbols
HGNC Approved Gene Symbol: GABRR2
Cytogenetic location: 6q15 Genomic coordinates (GRCh38): 6:89,254,464-89,315,299 (from NCBI)
GABRR2 is a member of a family of ligand-gated chloride channels that are the major inhibitory neurotransmitter receptors in the central nervous system (Cutting et al., 1992).
By screening a genomic DNA library with a portion of the cDNA encoding the GABA receptor subunit rho-1 (GABRR1; 137161), Cutting et al. (1992) identified 2 distinct clones. One clone contained a single exon from the rho-1 gene, while the second encompassed an exon with 96% identity to the rho-1 gene. Screening of a human retina cDNA library with oligonucleotides specific for the exon in the second clone identified a 3-kb cDNA with an open reading frame of 1,395 bp. The predicted amino acid sequence demonstrated 30 to 38% similarity to alpha, beta, gamma, and delta GABA receptor subunits and 74% similarity to the GABA rho-1 subunit, suggesting that the newly isolated cDNA encodes a new member of the rho subunit family, tentatively named GABA rho-2.
By polymerase chain reaction (PCR) amplification of rho-1 and rho-2 gene sequences from DNA of 3 somatic cell hybrid panels, Cutting et al. (1992) mapped both genes to human chromosome 6, bands q14-q21. Tight linkage was also demonstrated between restriction fragment length variants (RFLVs) from each rho gene and the Tsha locus on mouse chromosome 4, which is homologous to the CGA locus (118850) on human chromosome 6q12-q21.
Cutting, G. R., Curristin, S., Zoghbi, H., O'Hara, B., Seldin, M. F., Uhl, G. R. Identification of a putative gamma-aminobutyric acid (GABA) receptor subunit rho-2 cDNA and colocalization of the genes encoding rho-2 (GABRR2) and rho-1 (GABRR1) to human chromosome 6q14-q21 and mouse chromosome 4. Genomics 12: 801-806, 1992. [PubMed: 1315307] [Full Text: https://doi.org/10.1016/0888-7543(92)90312-g]