| Written | 2003-10 | 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 |
| Alias_symbol (synonym) | FLJ14784 |
| RCC4 | |
| Other alias | |
| HGNC (Hugo) | DIRC2 |
| LocusID (NCBI) | 84925 |
| Atlas_Id | 497 |
| Location | 3q21.1 [Link to chromosome band 3q21] |
| Location_base_pair | Starts at 122795054 and ends at 122881139 bp from pter ( according to hg19-Feb_2009) [Mapping DIRC2.png] |
 | |
| Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics | |
| Fusion genes (updated 2016) | CHCHD6 (3q21.3) / DIRC2 (3q21.1) | DIRC2 (3q21.1) / CFLAR (2q33.1) | DIRC2 (3q21.1) / DDT (22q11.23) |
| PDIA5 (3q21.1) / DIRC2 (3q21.1) | TIA1 (2p13.3) / DIRC2 (3q21.1) |
| 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. |
| Protein |
| Description | 478 amino acids |
| 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 |
| Note | |
| Entity | 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 |
| Disruption of a novel MFS transporter gene, DIRC2, by a familial renal cell carcinoma-associated t(2;3)(q35;q21). |
| Bodmer D, Eleveld M, Kater-Baats E, Janssen I, Janssen B, Weterman M, Schoenmakers E, Nickerson M, Linehan M, Zbar B, van Kessel AG |
| Human molecular genetics. 2002 ; 11 (6) : 641-649. |
| PMID 11912179 |
| A familial case of renal cell carcinoma and a t(2;3) chromosome translocation. |
| Koolen MI, van der Meyden AP, Bodmer D, Eleveld M, van der Looij E, Brunner H, Smits A, van den Berg E, Smeets D, Geurts van Kessel A |
| Kidney international. 1998 ; 53 (2) : 273-275. |
| PMID 9461085 |
| Characterization of a familial RCC-associated t(2;3)(q33;q21) chromosome translocation. |
| Podolski J, Byrski T, Zajaczek S, Druck T, Zimonjic DB, Popescu NC, Kata G, Borowka A, Gronwald J, Lubinski J, Huebner K |
| Journal of human genetics. 2001 ; 46 (12) : 685-693. |
| PMID 11776380 |
| Citation |
| This paper should be referenced as such : |
| Bonné, A ; Bodmer, D ; Eleveld, M ; Schoenmakers, EFPMG ; Geurts, van Kessel A |
| DIRC2 (disrupted in renal carcinoma 2) |
| Atlas Genet Cytogenet Oncol Haematol. 2004;8(1):3-3. |
| Free journal version : [ pdf ] [ DOI ] |
| On line version : http://AtlasGeneticsOncology.org/Genes/DIRC2ID497.html |
| Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ] |
|
Prostate tumors: an overview
|
| Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 1 ] |
| Familial clear cell renal cancer |
| External links |
| REVIEW articles | automatic search in PubMed |
| Last year publications | automatic search in PubMed |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Fri Jun 30 11:04:53 CEST 2017 |
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