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DIRC2 (disrupted in renal carcinoma 2)

Written2003-10Anita Bonné, Danièlle 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)FLJ14784
RCC4
Other alias
HGNC (Hugo) DIRC2
LocusID (NCBI) 84925
Atlas_Id 497
Location 3q21.1  [Link to chromosome band 3q21]
Location_base_pair Starts at 122513901 and ends at 122599986 bp from pter ( according to hg19-Feb_2009)  [Mapping DIRC2.png]
 
  Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics
Fusion genes
(updated 2016)
CHCHD6 (3q21.3) / DIRC2 (3q21.1)DIRC2 (3q21.1) / CFLAR (2q33.1)DIRC2 (3q21.1) / DDT (22q11.23)
PDIA5 (3q21.1) / DIRC2 (3q21.1)TIA1 (2p13.3) / DIRC2 (3q21.1)

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

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.
  

Bibliography

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
 
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
 

Citation

This paper should be referenced as such :
Bonné, A ; Bodmer, D ; Eleveld, M ; Schoenmakers, EFPMG ; Geurts, van Kessel A
DIRC2 (disrupted in renal carcinoma 2)
Atlas Genet Cytogenet Oncol Haematol. 2004;8(1):3-3.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/DIRC2ID497.html


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Prostate tumors: an overview


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


External links

Nomenclature
HGNC (Hugo)DIRC2   16628
Cards
AtlasDIRC2ID497
Entrez_Gene (NCBI)DIRC2  84925  disrupted in renal carcinoma 2
AliasesRCC4
GeneCards (Weizmann)DIRC2
Ensembl hg19 (Hinxton)ENSG00000138463 [Gene_View]  chr3:122513901-122599986 [Contig_View]  DIRC2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000138463 [Gene_View]  chr3:122513901-122599986 [Contig_View]  DIRC2 [Vega]
ICGC DataPortalENSG00000138463
TCGA cBioPortalDIRC2
AceView (NCBI)DIRC2
Genatlas (Paris)DIRC2
WikiGenes84925
SOURCE (Princeton)DIRC2
Genetics Home Reference (NIH)DIRC2
Genomic and cartography
GoldenPath hg19 (UCSC)DIRC2  -     chr3:122513901-122599986 +  3q21.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)DIRC2  -     3q21.1   [Description]    (hg38-Dec_2013)
EnsemblDIRC2 - 3q21.1 [CytoView hg19]  DIRC2 - 3q21.1 [CytoView hg38]
Mapping of homologs : NCBIDIRC2 [Mapview hg19]  DIRC2 [Mapview hg38]
OMIM144700   602773   
Gene and transcription
Genbank (Entrez)AA625541 AI079410 AI799012 AK027690 AK075158
RefSeq transcript (Entrez)NM_032839
RefSeq genomic (Entrez)NC_000003 NC_018914 NG_023324 NT_005612 NW_004929311
Consensus coding sequences : CCDS (NCBI)DIRC2
Cluster EST : UnigeneHs.477346 [ NCBI ]
CGAP (NCI)Hs.477346
Alternative Splicing GalleryENSG00000138463
Gene ExpressionDIRC2 [ NCBI-GEO ]   DIRC2 [ EBI - ARRAY_EXPRESS ]   DIRC2 [ SEEK ]   DIRC2 [ MEM ]
Gene Expression Viewer (FireBrowse)DIRC2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)84925
GTEX Portal (Tissue expression)DIRC2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96SL1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96SL1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96SL1
Splice isoforms : SwissVarQ96SL1
PhosPhoSitePlusQ96SL1
Domains : Interpro (EBI)MFS_dom   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)DIRC2
DMDM Disease mutations84925
Blocks (Seattle)DIRC2
SuperfamilyQ96SL1
Human Protein AtlasENSG00000138463
Peptide AtlasQ96SL1
HPRD04142
IPIIPI00045792   IPI00168349   IPI00979332   
Protein Interaction databases
DIP (DOE-UCLA)Q96SL1
IntAct (EBI)Q96SL1
FunCoupENSG00000138463
BioGRIDDIRC2
STRING (EMBL)DIRC2
ZODIACDIRC2
Ontologies - Pathways
QuickGOQ96SL1
Ontology : AmiGOlysosomal membrane  transport  integral component of membrane  
Ontology : EGO-EBIlysosomal membrane  transport  integral component of membrane  
NDEx NetworkDIRC2
Atlas of Cancer Signalling NetworkDIRC2
Wikipedia pathwaysDIRC2
Orthology - Evolution
OrthoDB84925
GeneTree (enSembl)ENSG00000138463
Phylogenetic Trees/Animal Genes : TreeFamDIRC2
HOVERGENQ96SL1
HOGENOMQ96SL1
Homologs : HomoloGeneDIRC2
Homology/Alignments : Family Browser (UCSC)DIRC2
Gene fusions - Rearrangements
Fusion : MitelmanCHCHD6/DIRC2 [3q21.3/3q21.1]  [t(3;3)(q21;q21)]  
Fusion : MitelmanDIRC2/DDT [3q21.1/22q11.23]  [t(3;22)(q21;q11)]  
Fusion : MitelmanPDIA5/DIRC2 [3q21.1/3q21.1]  [t(3;3)(q21;q21)]  
Fusion : MitelmanTIA1/DIRC2 [2p13.3/3q21.1]  [t(2;3)(p13;q21)]  
Fusion: TCGADIRC2 3q21.1 DDT 22q11.23 PRAD
Fusion: TCGAPDIA5 3q21.1 DIRC2 3q21.1 OV
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDIRC2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DIRC2
dbVarDIRC2
ClinVarDIRC2
1000_GenomesDIRC2 
Exome Variant ServerDIRC2
ExAC (Exome Aggregation Consortium)DIRC2 (select the gene name)
Genetic variants : HAPMAP84925
Genomic Variants (DGV)DIRC2 [DGVbeta]
DECIPHER (Syndromes)3:122513901-122599986  ENSG00000138463
CONAN: Copy Number AnalysisDIRC2 
Mutations
ICGC Data PortalDIRC2 
TCGA Data PortalDIRC2 
Broad Tumor PortalDIRC2
OASIS PortalDIRC2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDIRC2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDIRC2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch DIRC2
DgiDB (Drug Gene Interaction Database)DIRC2
DoCM (Curated mutations)DIRC2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DIRC2 (select a term)
intoGenDIRC2
NCG5 (London)DIRC2
Cancer3DDIRC2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM144700    602773   
Orphanet
MedgenDIRC2
Genetic Testing Registry DIRC2
NextProtQ96SL1 [Medical]
TSGene84925
GENETestsDIRC2
Huge Navigator DIRC2 [HugePedia]
snp3D : Map Gene to Disease84925
BioCentury BCIQDIRC2
ClinGenDIRC2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD84925
Chemical/Pharm GKB GenePA27341
Clinical trialDIRC2
Miscellaneous
canSAR (ICR)DIRC2 (select the gene name)
Probes
Litterature
PubMed8 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDIRC2
EVEXDIRC2
GoPubMedDIRC2
iHOPDIRC2
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Apr 12 11:30:34 CEST 2017

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