DIRC2

Identity

HGNC	DIRC2
Location	3q21
Location_base_pair	Starts at 123996591 and ends at 124082676 bp from pter ( according to hg18-Mar_2006).

DNA/RNA

Description

The gene spans 73 kb, 9 exons. The first exon and 5-prime UTR contain a CpG island. The gene contains 12 transmembrane segments. It contains a conserved motif, shared with the major facilitator superfamily of transporters, between membrane-spanning domains 2 and 3, and a proline-rich region between membrane-spanning domains 6 and 7. It also contains a putative N-glycosylation site and several putative phosphorylation sites.

Protein

Description	478 amino acids
Expression	Expression in pancreas, kidney (proximal tubular cells of the kidney), skeletal muscle, liver, lung, placenta, brain and heart.
Function	see below, may be a transporter
Homology	Computer predictions of the putative DIRC2 protein showed significant homology to different members of the major facilitator superfamily of transporters. DIRC2 shares 43% similarity with the human homolog of feline leukemia virus type C receptor (FLVXR), which has been classified as a major facilitator superfamily transporter, and over 85% homology with Dirc2 from monkey, pig, dog, and mouse.

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.

External links

	Nomenclature
HGNC	DIRC2   16628
Entrez_Gene	DIRC2  84925  disrupted in renal carcinoma 2
	Cards
Atlas	DIRC2ID497
GeneCards	DIRC2
Ensembl	DIRC2 [Search_View]   ENSG00000138463 [Gene_View]
Genatlas	DIRC2
GeneLynx	DIRC2
eGenome	DIRC2
euGene	84925
	Genomic and cartography
GoldenPath	DIRC2  -  3q21   chr3:123996591-124082676 +  3q21.1   [Description]    (hg18-Mar_2006)
Ensembl	DIRC2 - 3q21.1 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	DIRC2
	Gene and transcription
Genbank	AA625541 [ ENTREZ ]
Genbank	AI079410 [ ENTREZ ]
Genbank	AI799012 [ ENTREZ ]
Genbank	AK027690 [ ENTREZ ]
Genbank	AK075158 [ ENTREZ ]
RefSeq	NM_032839 [ SRS ]    NM_032839 [ ENTREZ ]
RefSeq	AC_000046 [ SRS ]    AC_000046 [ ENTREZ ]
RefSeq	AC_000135 [ SRS ]    AC_000135 [ ENTREZ ]
RefSeq	NC_000003 [ SRS ]    NC_000003 [ ENTREZ ]
RefSeq	NT_005612 [ SRS ]    NT_005612 [ ENTREZ ]
RefSeq	NW_001838882 [ SRS ]    NW_001838882 [ ENTREZ ]
RefSeq	NW_921807 [ SRS ]    NW_921807 [ ENTREZ ]
AceView	DIRC2 AceView - NCBI
Unigene	Hs.477346 [ SRS ]    Hs.477346 [ NCBI ]     HS477346 [ spliceNest ]
Fast-db	11672 (alternative variants)
	Protein : pattern, domain, 3D structure
SwissProt	Q05BS2 [ SRS]    Q05BS2 [ EXPASY ]     Q05BS2 [ INTERPRO ]     Q05BS2 [ UNIPROT ]
CluSTr	Q05BS2
Blocks	Q05BS2
HPRD	04142
	Protein Interaction databases
DIP	Q05BS2
IntAct	Q05BS2
	Polymorphism : SNP, mutations, diseases
OMIM	144700;602773    [ map ]
GENECLINICS	144700;602773
SNP	DIRC2 [dbSNP-NCBI]
SNP	NM_032839 [SNP-NCI]
SNP	DIRC2 [GeneSNPs - Utah]  DIRC2] [HGBASE - SRS]
HAPMAP	DIRC2 [HAPMAP]
HGMD	DIRC2
	General knowledge
Family Browser	DIRC2 [UCSC Family Browser]
SOURCE	NM_032839
SMD	Hs.477346
SAGE	Hs.477346
GO	transport [Amigo]  transport
GO	membrane [Amigo]  membrane
GO	integral to membrane [Amigo]  integral to membrane
PubGene	DIRC2
TreeFam	DIRC2
CTD	84925 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
Probe	DIRC2 Related clones (RZPD - Berlin)
	PubMed
PubMed	7 Pubmed reference(s) in Entrez

Bibliography

An alternative route for multistep tumorigenesis in a novel case of hereditary renal cell cancer and a t(2;3)(q35;q21) chromosome translocation.

Bodmer D, Eleveld MJ, Ligtenberg MJ, Weterman MA, Janssen BA, Smeets DF, de Wit PE, van den Berg A, van den Berg E, Koolen MI, Geurts van Kessel A

American journal of human genetics. 1998 ; 62 (6) : 1475-1483.

PMID 9585616

A familial case of renal cell carcinoma and a t(2;3) chromosome translocation.

Koolen MI, van der Meyden AP, Bodmer D, Eleveld M, van der Looij E, Brunner H, Smits A, van den Berg E, Smeets D, Geurts van Kessel A

Kidney international. 1998 ; 53 (2) : 273-275.

PMID 9461085

Characterization of a familial RCC-associated t(2;3)(q33;q21) chromosome translocation.

Podolski J, Byrski T, Zajaczek S, Druck T, Zimonjic DB, Popescu NC, Kata G, Borowka A, Gronwald J, Lubinski J, Huebner K

Journal of human genetics. 2001 ; 46 (12) : 685-693.

PMID 11776380

Disruption of a novel MFS transporter gene, DIRC2, by a familial renal cell carcinoma-associated t(2;3)(q35;q21).

Bodmer D, Eleveld M, Kater-Baats E, Janssen I, Janssen B, Weterman M, Schoenmakers E, Nickerson M, Linehan M, Zbar B, van Kessel AG

Human molecular genetics. 2002 ; 11 (6) : 641-649.

PMID 11912179

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, Danièlle 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 . DIRC2. Atlas Genet Cytogenet Oncol Haematol. October 2003 . URL : http://AtlasGeneticsOncology.org/Genes/DIRC2ID497.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Tue Oct 14 21:17:58 2008