DIRC2

SLC49A4
Identifiers
Aliases	SLC49A4, RCC4, disrupted in renal carcinoma 2, solute carrier family 49 member 4, DIRC2
External IDs	OMIM: 602773 MGI: 2387188 HomoloGene: 13137 GeneCards: SLC49A4
Gene location (Human) Chr. Chromosome 3 (human) Band 3q21.1 Start 122,795,069 bp End 122,881,139 bp
Gene location (Mouse) Chr. Chromosome 16 (mouse) Band 16|16 B3 Start 35,514,432 bp End 35,589,726 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in secondary oocyte placenta tibialis anterior muscle deltoid muscle pancreatic epithelial cell palpebral conjunctiva quadriceps femoris muscle vastus lateralis muscle biceps brachii oral cavity Top expressed in sternocleidomastoid muscle triceps brachii muscle gastrocnemius muscle interventricular septum quadriceps femoris muscle temporal muscle knee joint vastus lateralis muscle skeletal muscle tissue digastric muscle More reference expression data BioGPS n/a
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: 122.8 – 122.88 Mb Chr 16: 35.51 – 35.59 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

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

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.

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" (PDF). 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.