DIRC2 explained
Disrupted in renal carcinoma 2 is a protein that in humans is encoded by the DIRC2 gene.[1]
Function
This gene encodes a membrane-bound protein from the major facilitator superfamily of transporters. Disruption of this gene by translocation has been associated with haplo-insufficiency and renal cell carcinomas.[1]
Further reading
- Savalas LR, Gasnier B, Damme M, Lübke T, Wrocklage C, Debacker C, Jézégou A, Reinheckel T, Hasilik A, Saftig P, Schröder B . Disrupted in renal carcinoma 2 (DIRC2), a novel transporter of the lysosomal membrane, is proteolytically processed by cathepsin L . The Biochemical Journal . 439 . 1 . Oct 2011 . 21692750 . 10.1042/BJ20110166 . 113–28.
- Bodmer D, Eleveld M, Kater-Baats E, Janssen I, Janssen B, Weterman M, Schoenmakers E, Nickerson M, Linehan M, Zbar B, van Kessel AG . Disruption of a novel MFS transporter gene, DIRC2, by a familial renal cell carcinoma-associated t(2;3)(q35;q21) . Human Molecular Genetics . 11 . 6 . Mar 2002 . 11912179 . 641–9 . 10.1093/hmg/11.6.641. free .
- Bodmer D, Janssen I, Jonkers Y, van den Berg E, Dijkhuizen T, Debiec-Rychter M, Schoenmakers E, van Kessel AG . Molecular cytogenetic analysis of clustered sporadic and familial renal cell carcinoma-associated 3q13 approximately q22 breakpoints . Cancer Genetics and Cytogenetics . 136 . 2 . Jul 2002 . 12237231 . 95–100 . 10.1016/s0165-4608(02)00517-4.
Notes and References
- Web site: Entrez Gene: Disrupted in renal carcinoma 2 .