DIRC2

Protein-coding gene in the species Homo sapiens
SLC49A4
Identifiers
AliasesSLC49A4, RCC4, disrupted in renal carcinoma 2, solute carrier family 49 member 4, DIRC2
External IDsOMIM: 602773; MGI: 2387188; HomoloGene: 13137; GeneCards: SLC49A4; OMA:SLC49A4 - orthologs
Gene location (Human)
Chromosome 3 (human)
Chr.Chromosome 3 (human)[1]
Chromosome 3 (human)
Genomic location for SLC49A4
Genomic location for SLC49A4
Band3q21.1Start122,795,069 bp[1]
End122,881,139 bp[1]
Gene location (Mouse)
Chromosome 16 (mouse)
Chr.Chromosome 16 (mouse)[2]
Chromosome 16 (mouse)
Genomic location for SLC49A4
Genomic location for SLC49A4
Band16|16 B3Start35,514,432 bp[2]
End35,589,726 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
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
BioGPS
n/a
Orthologs
SpeciesHumanMouse
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 MbChr 16: 35.51 – 35.59 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000138463 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000022848 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b "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" (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.


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