DIRC2
| Disrupted in renal carcinoma 2 | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||
| Symbols | DIRC2 ; RCC4 | ||||||||||
| External IDs | OMIM: 602773 HomoloGene: 13137 IUPHAR: 1913 GeneCards: DIRC2 Gene | ||||||||||
| |||||||||||
| Orthologs | |||||||||||
| Species | Human | Mouse | |||||||||
| Entrez | 84925 | 224132 | |||||||||
| Ensembl | ENSG00000138463 | ENSMUSG00000022848 | |||||||||
| UniProt | Q96SL1 | Q8BFQ6 | |||||||||
| RefSeq (mRNA) | NM_032839 | NM_153550 | |||||||||
| RefSeq (protein) | NP_116228 | NP_705778 | |||||||||
| Location (UCSC) |
Chr 3: 122.79 – 122.88 Mb |
Chr 16: 35.69 – 35.77 Mb | |||||||||
| PubMed search | |||||||||||
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]
References
Further reading
- Savalas LR, Gasnier B, Damme M, Lübke T, Wrocklage C, Debacker C, Jézégou A, Reinheckel T, Hasilik A, Saftig P, Schröder B (Oct 2011). "Disrupted in renal carcinoma 2 (DIRC2), a novel transporter of the lysosomal membrane, is proteolytically processed by cathepsin L". The Biochemical Journal 439 (1): 113–28. doi:10.1042/BJ20110166. PMID 21692750.
- Bodmer D, Eleveld M, Kater-Baats E, Janssen I, Janssen B, Weterman M, Schoenmakers E, Nickerson M, Linehan M, Zbar B, van Kessel AG (Mar 2002). "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): 641–9. doi:10.1093/hmg/11.6.641. PMID 11912179.
- Bodmer D, Janssen I, Jonkers Y, van den Berg E, Dijkhuizen T, Debiec-Rychter M, Schoenmakers E, van Kessel AG (Jul 2002). "Molecular cytogenetic analysis of clustered sporadic and familial renal cell carcinoma-associated 3q13 approximately q22 breakpoints". Cancer Genetics and Cytogenetics 136 (2): 95–100. doi:10.1016/s0165-4608(02)00517-4. PMID 12237231.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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