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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

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 218148746 and ends at 218621316 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

Nomenclature
HGNC (Hugo)DIRC3   17805
Cards
AtlasDIRC3ID498
Entrez_Gene (NCBI)DIRC3  729582  disrupted in renal carcinoma 3
Aliases
GeneCards (Weizmann)DIRC3
Ensembl hg19 (Hinxton) [Gene_View]  chr2:218148746-218621316 [Contig_View]  DIRC3 [Vega]
Ensembl hg38 (Hinxton) [Gene_View]  chr2:218148746-218621316 [Contig_View]  DIRC3 [Vega]
TCGA cBioPortalDIRC3
AceView (NCBI)DIRC3
Genatlas (Paris)DIRC3
WikiGenes729582
SOURCE (Princeton)DIRC3
Genetics Home Reference (NIH)DIRC3
Genomic and cartography
GoldenPath hg19 (UCSC)DIRC3  -     chr2:218148746-218621316 -  2q35   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)DIRC3  -     2q35   [Description]    (hg38-Dec_2013)
EnsemblDIRC3 - 2q35 [CytoView hg19]  DIRC3 - 2q35 [CytoView hg38]
Mapping of homologs : NCBIDIRC3 [Mapview hg19]  DIRC3 [Mapview hg38]
OMIM608262   
Gene and transcription
Genbank (Entrez)AK024261 AK090954
RefSeq transcript (Entrez)
RefSeq genomic (Entrez)NC_000002 NC_018913 NT_005403 NW_004929305
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
IPIIPI00927781   
Protein Interaction databases
BioGRIDDIRC3
STRING (EMBL)DIRC3
ZODIACDIRC3
Ontologies - Pathways
Huge Navigator DIRC3 [HugePedia]
snp3D : Map Gene to Disease729582
BioCentury BCIQDIRC3
ClinGenDIRC3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD729582
Chemical/Pharm GKB GenePA134944938
Clinical trialDIRC3
Miscellaneous
canSAR (ICR)DIRC3 (select the gene name)
Probes
Litterature
PubMed9 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDIRC3
EVEXDIRC3
GoPubMedDIRC3
iHOPDIRC3
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:39:21 CET 2017

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