DIRC3 (disrupted in renal carcinoma 3)
2003-10-01 Anita Bonné , Danièlle Bodmer , Marc Eleveld , Eric Schoenmakers , Ad Geurts van Kessel. AffiliationDepartment of Human Genetics (417), P.O. Box 9101, 6500 HB Nijmegen, The Netherlands
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
Entity name
t(2;3)(q35;q21) and hereditary renal cell cancer.
Disease
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)
Fusion 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.
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 12939738 | 2003 | 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 et al |
Other Information
Locus ID:
NCBI: 729582
MIM: 608262
HGNC: 17805
Variants:
dbSNP: 729582
ClinVar: 729582
COSMIC: DIRC3
Expression (GTEx)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37130273 | 2023 | lncRNA DIRC3 regulates invasiveness and insulin-like growth factor signaling in thyroid cancer cells. | 2 |
| 37130273 | 2023 | lncRNA DIRC3 regulates invasiveness and insulin-like growth factor signaling in thyroid cancer cells. | 2 |
| 31881017 | 2019 | The MITF-SOX10 regulated long non-coding RNA DIRC3 is a melanoma tumour suppressor. | 34 |
| 31881017 | 2019 | The MITF-SOX10 regulated long non-coding RNA DIRC3 is a melanoma tumour suppressor. | 34 |
| 27793000 | 2016 | DIRC3 and near NABP1 genetic polymorphisms are associated laryngeal squamous cell carcinoma patient survival. | 5 |
| 27793000 | 2016 | DIRC3 and near NABP1 genetic polymorphisms are associated laryngeal squamous cell carcinoma patient survival. | 5 |
Citation
Anita Bonné ; Danièlle Bodmer ; Marc Eleveld ; Eric Schoenmakers ; Ad Geurts van Kessel.
DIRC3 (disrupted in renal carcinoma 3)
Atlas Genet Cytogenet Oncol Haematol. 2003-10-01
Online version: http://atlasgeneticsoncology.org/gene/498/dirc3-(disrupted-in-renal-carcinoma-3)
