DIRC3

Identity

HGNC	DIRC3
Location	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

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.

External links

	Nomenclature
HGNC	DIRC3   17805
Entrez_Gene	DIRC3  729582  disrupted in renal carcinoma 3
	Cards
Atlas	DIRC3ID498
GeneCards	DIRC3
Ensembl	DIRC3 [Search_View]   ENSG00000188605 [Gene_View]
Genatlas	DIRC3
GeneLynx	DIRC3
eGenome	DIRC3
euGene	729582
	Genomic and cartography
GoldenPath	DIRC3  -  2q35   chr2:217856992-218172900 -  2q35   [Description]    (hg18-Mar_2006)
Ensembl	DIRC3 - 2q35 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	DIRC3
	Gene and transcription
Genbank	AK024261 [ ENTREZ ]
Genbank	AK090954 [ ENTREZ ]
RefSeq	AC_000045 [ SRS ]    AC_000045 [ ENTREZ ]
RefSeq	AC_000134 [ SRS ]    AC_000134 [ ENTREZ ]
RefSeq	NC_000002 [ SRS ]    NC_000002 [ ENTREZ ]
RefSeq	NT_005403 [ SRS ]    NT_005403 [ ENTREZ ]
RefSeq	NW_001838863 [ SRS ]    NW_001838863 [ ENTREZ ]
RefSeq	NW_921618 [ SRS ]    NW_921618 [ ENTREZ ]
AceView	DIRC3 AceView - NCBI
Unigene	Hs.692208 [ SRS ]    Hs.692208 [ NCBI ]     HS692208 [ spliceNest ]
	Protein : pattern, domain, 3D structure
	Protein Interaction databases
	Polymorphism : SNP, mutations, diseases
OMIM	608262    [ map ]
GENECLINICS	608262
SNP	DIRC3 [dbSNP-NCBI]
SNP	DIRC3 [GeneSNPs - Utah]  DIRC3] [HGBASE - SRS]
HAPMAP	DIRC3 [HAPMAP]
HGMD	DIRC3
	General knowledge
Family Browser	DIRC3 [UCSC Family Browser]
SMD	Hs.692208
SAGE	Hs.692208
PubGene	DIRC3
TreeFam	DIRC3
CTD	729582 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
Probe	DIRC3 Related clones (RZPD - Berlin)
	PubMed
PubMed	2 Pubmed reference(s) in LocusLink

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

REVIEW articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written	10-2003	Anita Bonné, Danielle Bodmer, Marc Eleveld, Eric Schoenmakers, Ad Geurts van Kessel.

Citation

This paper should be referenced as such :

Bonné A, Bodmer D, Eleveld M, Schoenmakers EFPMG, Geurts van Kessel A . DIRC3. Atlas Genet Cytogenet Oncol Haematol. October 2003 . URL : http://AtlasGeneticsOncology.org/Genes/DIRC3ID498.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Mon Aug 11 21:13:19 2008