DIRC2

DIRC2
Identifiers
Aliases DIRC2, RCC4, disrupted in renal carcinoma 2
External IDs MGI: 2387188 HomoloGene: 13137 GeneCards: DIRC2
Orthologs
Species Human Mouse
Entrez

84925

224132

Ensembl

ENSG00000138463

ENSMUSG00000022848

UniProt

Q96SL1

Q8BFQ6

RefSeq (mRNA)

NM_032839

NM_153550

RefSeq (protein)

NP_116228.1

NP_705778.1

Location (UCSC) Chr 3: 122.79 – 122.88 Mb Chr 16: 35.69 – 35.77 Mb
PubMed search [1] [2]
Wikidata
View/Edit HumanView/Edit Mouse

Disrupted in renal carcinoma 2 is a protein that in humans is encoded by the DIRC2 gene.[3]

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.[3]

References

  1. ↑ "Human PubMed Reference:".
  2. ↑ "Mouse PubMed Reference:".
  3. 1 2 "Entrez Gene: Disrupted in renal carcinoma 2".

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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