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; OMA:SLC49A4 - orthologs
Gene location (Human)
Chr.	Chromosome 3 (human)
End	122,881,139 bp
Gene location (Mouse)
Chr.	Chromosome 16 (mouse)
End	35,589,726 bp
RNA expression pattern
	Top expressed in
	secondary oocyte; ; skin of arm; ; placenta; ; decidua; ; tibialis anterior muscle; ; cardiac muscle tissue of right atrium; ; deltoid muscle; ; pancreatic epithelial cell; ; myocardium of left ventricle; ; gingival epithelium;
	Top expressed in
	muscle of thigh; ; sternocleidomastoid muscle; ; triceps brachii muscle; ; gastrocnemius muscle; ; interventricular septum; ; quadriceps femoris muscle; ; temporal muscle; ; knee joint; ; vastus lateralis muscle; ; skeletal muscle tissue;
	More reference expression data
	n/a
Orthologs
	84925
	224132
	ENSG00000138463
	ENSMUSG00000022848
	Q96SL1
	Q8BFQ6
	NM_032839
	NM_153550
	NP_116228
	NP_705778
	Wikidata
View/Edit Human	View/Edit Mouse

Disrupted in renal carcinoma 2 is a protein that in humans is encoded by the DIRC2 gene.^[5]

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.^[5]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000138463 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000022848 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b "Entrez Gene: Disrupted in renal carcinoma 2".

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.