DIRC2 (disrupted in renal carcinoma 2)

2003-10-01   Anita Bonné , Danièlle Bodmer , Marc Eleveld , Eric Schoenmakers , Ad Geurts van Kessel 

Department of Human Genetics (417), P.O. Box 9101, 6500 HB Nijmegen, The Netherlands

Identity

HGNC
LOCATION
3q21.1
IMAGE
Atlas Image
LEGEND
Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics
LOCUSID
ALIAS
DIRC2,RCC4
FUSION GENES

DNA/RNA

Description

The gene spans 73 kb, 9 exons. The first exon and 5-prime UTR contain a CpG island. The gene contains 12 transmembrane segments. It contains a conserved motif, shared with the major facilitator superfamily of transporters, between membrane-spanning domains 2 and 3, and a proline-rich region between membrane-spanning domains 6 and 7. It also contains a putative N-glycosylation site and several putative phosphorylation sites.

Proteins

Expression

Expression in pancreas, kidney (proximal tubular cells of the kidney), skeletal muscle, liver, lung, placenta, brain and heart.

Function

see below, may be a transporter

Homology

Computer predictions of the putative DIRC2 protein showed significant homology to different members of the major facilitator superfamily of transporters. DIRC2 shares 43% similarity with the human homolog of feline leukemia virus type C receptor (FLVXR), which has been classified as a major facilitator superfamily transporter, and over 85% homology with Dirc2 from monkey, pig, dog, and mouse.

Implicated in

Entity name
t(2;3)(q35;q21) and hereditary renal cell cancer.
Disease
Familial renal cell cancer.
Cytogenetics
Disruption of the gene because of the t(2;3) translocation.

Bibliography

Pubmed IDLast YearTitleAuthors
119121792002Disruption of a novel MFS transporter gene, DIRC2, by a familial renal cell carcinoma-associated t(2;3)(q35;q21).Bodmer D et al
94610851998A familial case of renal cell carcinoma and a t(2;3) chromosome translocation.Koolen MI et al
117763802001Characterization of a familial RCC-associated t(2;3)(q33;q21) chromosome translocation.Podolski J et al

Citation

Anita Bonné ; Danièlle Bodmer ; Marc Eleveld ; Eric Schoenmakers ; Ad Geurts van Kessel

DIRC2 (disrupted in renal carcinoma 2)

Atlas Genet Cytogenet Oncol Haematol. 2003-10-01

Online version: http://atlasgeneticsoncology.org/gene/497/dirc2-(disrupted-in-renal-carcinoma-2)