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DIRC3 (disrupted in renal carcinoma 3)

Written2003-10Anita 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

(Note : for Links provided by Atlas : click)

Identity

Other alias
LocusID (NCBI) 729582
Atlas_Id 498
Location 2q35  [Link to chromosome band 2q35]
Location_base_pair Starts at and ends at bp from pter
 
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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

Nomenclature
Cards
AtlasDIRC3ID498.txt
Aliases
Genomic and cartography
Gene and transcription
RefSeq transcript (Entrez)
RefSeq genomic (Entrez)
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)729582
Protein : pattern, domain, 3D structure
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Protein Interaction databases
Ontologies - Pathways
Clinical trials, drugs, therapy
Miscellaneous
canSAR (ICR) (select the gene name)
Probes
Litterature
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed


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indexed on : Thu Oct 18 17:33:52 CEST 2018

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