| Written | 2003-10 | Anita Bonné, Danielle 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) | FLJ14199 |
| Other alias | |
| HGNC (Hugo) | DIRC3 |
| LocusID (NCBI) | 729582 |
| Atlas_Id | 498 |
| Location | 2q35 [Link to chromosome band 2q35] |
| Location_base_pair | Starts at 217284023 and ends at 217756593 bp from pter ( according to hg19-Feb_2009) [Mapping DIRC3.png] |
 | |
| Fusion genes (updated 2016) | ARHGEF37 (5q32) / DIRC3 (2q35) | DIRC3 (2q35) / HSPBAP1 (3q21.1) | HSPBAP1 (3q21.1) / DIRC3 (2q35) |
| DNA/RNA |
| Description | The gene spans 3071 bp and contains 12 exons. The last exon contains a consensus polyadenylation site sequence (AGTAA) at 20 nt upstream op the poly(a) addition site. DIRC3 expression could be detected in the placenta, but low expression was found in most tissues and the gene may act as a non-coding RNA. |
| 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. |
| A schematic overview of the breakpoint regions on chromosome 2 and 3 in a family with a t(2;3) translocation with the breakpoint genes DIRC2 and DIRC3, the fusion protein DIRC3-HSPBAP1 and their neighbouring genes. (TNS: tensin; SEMA5B: sema domain 5B) | |
| Abnormal Protein | DIRC3-HSPBAP1 is formed by replacing the first coding exon of HSPBAP1 by the first two exons of DIRC3. The fusion transcript most likely encodes a truncated HSPBAP1 protein starting from a internal initiation side embedded in a strong Kozak consensus sequence. |
| Bibliography |
| Disruption of a novel gene, DIRC3, and expression of DIRC3-HSPBAP1 fusion transcripts in a case of familial renal cell cancer and t(2;3)(q35;q21). |
| Bodmer D, Schepens M, Eleveld MJ, Schoenmakers EF, Geurts van Kessel A |
| Genes, chromosomes & cancer. 2003 ; 38 (2) : 107-116. |
| PMID 12939738 |
| Citation |
| This paper should be referenced as such : |
| Bonné, A ; Bodmer, D ; Eleveld, M ; Schoenmakers, EFPMG ; Geurts, van Kessel A |
| DIRC3 (disrupted in renal carcinoma 3) |
| Atlas Genet Cytogenet Oncol Haematol. 2004;8(1):4-5. |
| Free journal version : [ pdf ] [ DOI ] |
| On line version : http://AtlasGeneticsOncology.org/Genes/DIRC3ID498.html |
| 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 11:04:54 CEST 2017 |
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