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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)


Alias_symbol (synonym)FLJ14199
Other alias
LocusID (NCBI) 729582
Atlas_Id 498
Location 2q35  [Link to chromosome band 2q35]
Location_base_pair Starts at 217284019 and ends at 217756593 bp from pter ( according to hg19-Feb_2009)  [Mapping DIRC3.png]
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)


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 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.


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


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 :

Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 1 ]
  Familial clear cell renal cancer

External links

HGNC (Hugo)DIRC3   17805
Entrez_Gene (NCBI)DIRC3  729582  disrupted in renal carcinoma 3
GeneCards (Weizmann)DIRC3
Ensembl hg19 (Hinxton) [Gene_View]
Ensembl hg38 (Hinxton) [Gene_View]   [Sequence]  chr2:217284019-217756593 [Contig_View]  DIRC3 [Vega]
TCGA cBioPortalDIRC3
Genatlas (Paris)DIRC3
SOURCE (Princeton)DIRC3
Genetics Home Reference (NIH)DIRC3
Genomic and cartography
GoldenPath hg38 (UCSC)DIRC3  -     chr2:217284019-217756593 -  2q35   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DIRC3  -     2q35   [Description]    (hg19-Feb_2009)
GoldenPathDIRC3 - 2q35 [CytoView hg19]  DIRC3 - 2q35 [CytoView hg38]
Mapping of homologs : NCBIDIRC3 [Mapview hg19]  DIRC3 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AK024261 AK090954
RefSeq transcript (Entrez)
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DIRC3
Cluster EST : UnigeneHs.572788 [ NCBI ]
CGAP (NCI)Hs.572788
Gene ExpressionDIRC3 [ NCBI-GEO ]   DIRC3 [ EBI - ARRAY_EXPRESS ]   DIRC3 [ SEEK ]   DIRC3 [ MEM ]
Gene Expression Viewer (FireBrowse)DIRC3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)729582
GTEX Portal (Tissue expression)DIRC3
Protein : pattern, domain, 3D structure
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)DIRC3
DMDM Disease mutations729582
Blocks (Seattle)DIRC3
Protein Interaction databases
Ontologies - Pathways
Huge Navigator DIRC3 [HugePedia]
snp3D : Map Gene to Disease729582
BioCentury BCIQDIRC3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD729582
Chemical/Pharm GKB GenePA134944938
Clinical trialDIRC3
canSAR (ICR)DIRC3 (select the gene name)
DataMed IndexDIRC3
PubMed10 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Nov 13 21:14:54 CET 2019

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