Atlas of Genetics and Cytogenetics in Oncology and Haematology

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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)


Alias_symbol (synonym)FLJ14784
Other alias
LocusID (NCBI) 84925
Atlas_Id 497
Location 3q21.1  [Link to chromosome band 3q21]
Location_base_pair Starts at 122795054 and ends at 122881139 bp from pter ( according to hg19-Feb_2009)  [Mapping DIRC2.png]
  Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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)


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.


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.


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


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 :

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 5 ]
  Prostate tumors: an overview
t(2;3)(p13;q21) TIA1/DIRC2
CHCHD6/DIRC2 (3q21)
PDIA5/DIRC2 (3q21)
t(3;22)(q21;q11) DIRC2/DDT

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

External links

HGNC (Hugo)DIRC2   16628
Entrez_Gene (NCBI)DIRC2  84925  disrupted in renal carcinoma 2
GeneCards (Weizmann)DIRC2
Ensembl hg19 (Hinxton)ENSG00000138463 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000138463 [Gene_View]  ENSG00000138463 [Sequence]  chr3:122795054-122881139 [Contig_View]  DIRC2 [Vega]
ICGC DataPortalENSG00000138463
TCGA cBioPortalDIRC2
Genatlas (Paris)DIRC2
SOURCE (Princeton)DIRC2
Genetics Home Reference (NIH)DIRC2
Genomic and cartography
GoldenPath hg38 (UCSC)DIRC2  -     chr3:122795054-122881139 +  3q21.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DIRC2  -     3q21.1   [Description]    (hg19-Feb_2009)
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)
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]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)84925
GTEX Portal (Tissue expression)DIRC2
Human Protein AtlasENSG00000138463-DIRC2 [pathology]   [cell]   [tissue]
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
Domains : Interpro (EBI)MFS_dom    MFS_trans_sf   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)DIRC2
DMDM Disease mutations84925
Blocks (Seattle)DIRC2
Human Protein Atlas [tissue]ENSG00000138463-DIRC2 [tissue]
Peptide AtlasQ96SL1
IPIIPI00045792   IPI00168349   IPI00979332   
Protein Interaction databases
IntAct (EBI)Q96SL1
Ontologies - Pathways
Ontology : AmiGOlysosomal membrane  membrane  integral component of membrane  intracellular membrane-bounded organelle  intracellular membrane-bounded organelle  cofactor transmembrane transporter activity  
Ontology : EGO-EBIlysosomal membrane  membrane  integral component of membrane  intracellular membrane-bounded organelle  intracellular membrane-bounded organelle  cofactor transmembrane transporter activity  
NDEx NetworkDIRC2
Atlas of Cancer Signalling NetworkDIRC2
Wikipedia pathwaysDIRC2
Orthology - Evolution
GeneTree (enSembl)ENSG00000138463
Phylogenetic Trees/Animal Genes : TreeFamDIRC2
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 PortalDIRC2 3q21.1 DDT 22q11.23 PRAD
Fusion PortalPDIA5 3q21.1 DIRC2 3q21.1 OV
Fusion : QuiverDIRC2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDIRC2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DIRC2
Exome Variant ServerDIRC2
ExAC (Exome Aggregation Consortium)ENSG00000138463
GNOMAD BrowserENSG00000138463
Varsome BrowserDIRC2
Genetic variants : HAPMAP84925
Genomic Variants (DGV)DIRC2 [DGVbeta]
DECIPHERDIRC2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDIRC2 
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)
NCG5 (London)DIRC2
Cancer3DDIRC2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
OMIM144700    602773   
Genetic Testing Registry DIRC2
NextProtQ96SL1 [Medical]
Target ValidationDIRC2
Huge Navigator DIRC2 [HugePedia]
snp3D : Map Gene to Disease84925
BioCentury BCIQDIRC2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD84925
Chemical/Pharm GKB GenePA27341
Clinical trialDIRC2
canSAR (ICR)DIRC2 (select the gene name)
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 : Mon Sep 3 15:48:36 CEST 2018

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