Disrupted in renal carcinoma protein 2, DIRC 2, Disrupted in renal cancer protein 2, Disrupted in renal carcinoma 2, FLJ14784, NP_116228, RCC 4, RCC4, Renal cell carcinoma 4, DIRC2_HUMAN.
Belonging to the major facilitator superfamily, DIRC2 (disrupted in renal carcinoma protein 2) is a 478 amino acid multi-pass membrane protein that is primarily expressed in kidney proximal tubular cells. The genes encoding DIRC2 and DIRC3 are located at a translocation breakpoint which occurs frequently in individuals affected by familial renal cell carcinoma. Fusion transcripts that result from these translocations may affect normal protein function. This evidence suggests that, due to its chromosomal location, deregulation of the DIRC2 gene may cause haploinsufficiency and therefore result in the onset of tumor growth. There are two isoforms of DIRC2 which are produced as a result of alternative splicing events.
