background:
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.
Function:
Electrogenic metabolite transporter.
Subcellular Location:
Lysosome membrane; Multi-pass membrane protein.
Tissue Specificity:
Ubiquitous. Expressed in proximal tubular cells of the kidney.
Post-translational modifications:
Cleaved in lysosomes by cathepsin L between Leu-214 and Ala-261, generating a N-glycosylated N-terminal and a non-glycosylated SLCterminal fragment.
DISEASE:
Note=A chromosomal aberration involving DIRC2 has been found in a family with renal carcinoma. Translocation t(2;3)(q35;q21).
Similarity:
Belongs to the major facilitator superfamily.
Database links:
UniProtKB/Swiss-Prot: Q96SL1.1
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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