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CDX2 (caudal-related homeobox 2)

Identity

Other namesCDX3
HGNC (Hugo) CDX2
Location 13q12.3
Location_base_pair Starts at 28536279 and ends at 28543317 bp from pter ( according to hg19-Feb_2009)  [Mapping]
Local_order IPF1-CDX2- FLT3 -FLT1
 
  CDX2 (13q12) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics. Laboratories willing to validate the probes are welcome : contact rocchi@biologia.uniba.it

DNA/RNA

Description Three exons transcribed from telomere to centromere.

Protein

Description 311 amino acid protein of MW 33kDa. Class I homeobox gene related to Drosophila caudal.
Expression Nuclear protein normally expressed almost exclusively in the intestine, where it plays a role in the proliferation and differentiation of intestinal epithelial cells.

Mutations

Somatic Found to be mutated in rare cases of colorectal carcinoma

Implicated in

Entity t(12;13)(p13;q12) acute non lymphocytic leukaemia --> ETV6/ CDX2
Abnormal Protein Fusion of ETV6 exon 2 to CDX2 exon 2. The predicted protein contains the N-terminal region of ETV6 38 fused to the entire homeobox of CDX2. The single case described that harbours this fusion also expressed normal CDX2, which is not normally expressed in haemopoietic cells.
  

External links

Nomenclature
HGNC (Hugo)CDX2   1806
Entrez_Gene (NCBI)CDX2  1045  caudal type homeobox 2
Cards
AtlasCDX2ID326
GeneCards (Weizmann)CDX2
Ensembl (Hinxton)ENSG00000165556 [Gene_View]  CDX2 [Vega]
AceView (NCBI)CDX2
Genatlas (Paris)CDX2
euGene (Indiana)1045
SOURCE (Stanford)NM_001265
Gene Expression (Array Express) ENSG00000165556
Genomic and cartography
GoldenPath (UCSC)CDX2  -  13q12.3   chr13:28536279-28543317 -  13q12.3   [Description]    (hg19-Feb_2009)
EnsemblCDX2 - 13q12.3 [CytoView]
Mapping of homologs : NCBICDX2 [Mapview]
OMIM600297   
Gene and transcription
Gene : Genbank (Entrez)BC014461 DQ893626 EU176674 U51096 Y13709
Reference sequence (RefSeq transcript) :SRSNM_001265
Reference transcript : EntrezNM_001265
RefSeq genomic : SRSAC_000056 AC_000145 NC_000013 NT_024524 NW_001838071 NW_925473
RefSeq genomic : EntrezAC_000056 AC_000145 NC_000013 NT_024524 NW_001838071 NW_925473
Consensus coding sequences : CCDS NCBICDX2
Cluster EST : UnigeneHs.174249 [ SRS ] Hs.174249 [ NCBI ]
Alternative Splicing : Fast-db (Paris)1920
Protein : pattern, domain, 3D structure
Protein : UniProt/SwissProtQ99626 (SRS) Q99626 (Expasy) Q99626 (Uniprot)
With graphics : InterProQ99626
Splice isoforms : VarSplice FASTAQ99626(VarSplice FASTA)
Domaine pattern : Prosite (SRS)HOMEOBOX_1 (PS00027)    HOMEOBOX_2 (PS50071)   
Domain pattern : Prosite (Expaxy)HOMEOBOX_1 (PS00027)    HOMEOBOX_2 (PS50071)   
Domains : Interpro (SRS)Caudal_activation_dom    Homeobox    Homeobox-prot_Cdx    Homeobox_CS    Homeobox_region    Homeodomain-like    Homeodomain-rel    HTH_lambrepressr   
Domains : Interpro (EBI)Caudal_activation_dom    Homeobox    Homeobox-prot_Cdx    Homeobox_CS    Homeobox_region    Homeodomain-like    Homeodomain-rel    HTH_lambrepressr   
Related proteins : CluSTrQ99626
Domain families : Pfam SRSCaudal_act (PF04731)    Homeobox (PF00046)   
Domain families : Pfam SangerCaudal_act (PF04731)    Homeobox (PF00046)   
Domain families : Pfam NCBIpfam04731    pfam00046   
Domain families : Smart EMBLHOX (SM00389)  
Blocks (Seattle)Q99626
Crystal structure of protein : PDB SRS
Crystal structure of protein : PDBSum
Crystal structure of protein : IMB
Crystal structure of protein : PDB RSDB
Human Protein AtlasENSG00000165556
HPRD02622
Protein Interaction databases
DIP (DOE-UCLA)Q99626
IntAct (EBI)Q99626
FunCoupENSG00000165556
Polymorphism : SNP, mutations, diseases
Single Nucleotide Polymorphism (SNP) : dbSNP NCBICDX2
SNP : GeneSNP UtahCDX2
SNP : HGBaseCDX2
Genetic variants : HAPMAPCDX2
Cancer Gene: CensusCDX2 
Somatic Mutations in Cancer : COSMICCDX2 
Translocation Breakpoints in Cancer : TICdbCDX2 
Mutations and Diseases : HGMDCDX2
Hereditary diseases : OMIM600297   
Hereditary diseases : GENETests600297   
Diseases : Genetic AssociationCDX2
General knowledge
Homologs : HomoloGeneCDX2
Homology/Alignments : Family Browser UCSCCDX2
Phylogenetic Trees/Animal Genes : TreeFamCDX2
Chemical/Protein Interactions : CTD1045
Keywords Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  condensed nuclear chromosome  blood vessel development  blastocyst development  trophectodermal cell differentiation  placenta development  double-stranded DNA binding  transcription factor activity  transcription corepressor activity  protein binding  nucleus  transcription from RNA polymerase II promoter  pattern specification process  positive regulation of cell proliferation  organ morphogenesis  transcriptional repressor complex  somatic stem cell maintenance  sequence-specific DNA binding  positive regulation of cell differentiation  positive regulation of transcription, DNA-dependent  
Keywords Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  condensed nuclear chromosome  blood vessel development  blastocyst development  trophectodermal cell differentiation  placenta development  double-stranded DNA binding  transcription factor activity  transcription corepressor activity  protein binding  nucleus  transcription from RNA polymerase II promoter  pattern specification process  positive regulation of cell proliferation  organ morphogenesis  transcriptional repressor complex  somatic stem cell maintenance  sequence-specific DNA binding  positive regulation of cell differentiation  positive regulation of transcription, DNA-dependent  
Pathways : BIOCARTA
Pathways : KEGG
Other databases
Probes
ProbeCancer Cytogenetics (Bari)
Probes : ImagenesCDX2 Related clones (RZPD - Berlin)
Literature
PubMed123 Pubmed reference(s) in Entrez
PubGeneCDX2

Bibliography

Cloning and chromosome assignment of the human CDX2 gene.
Drummond F, Putt W, Fox M, Edwards YH
Annals of human genetics. 1997 ; 61 (Pt 5) : 393-400.
PMID 9459001
 
CDX2, a human homologue of Drosophila caudal, is mutated in both alleles in a replication error positive colorectal cancer.
Wicking C, Simms LA, Evans T, Walsh M, Chawengsaksophak K, Beck F, Chenevix-Trench G, Young J, Jass J, Leggett B, Wainwright B
Oncogene. 1998 ; 17 (5) : 657-659.
PMID 9704932
 
Fusion of ETV6 to the caudal-related homeobox gene CDX2 in acute myeloid leukemia with the t(12;13)(p13;q12).
Chase A, Reiter A, Burci L, Cazzaniga G, Biondi A, Pickard J, Roberts IA, Goldman JM, Cross NC
Blood. 1999 ; 93 (3) : 1025-1031.
PMID 9920852
 
CDX2 is mutated in a colorectal cancer with normal APC/beta-catenin signaling.
da Costa LT, He TC, Yu J, Sparks AB, Morin PJ, Polyak K, Laken S, Vogelstein B, Kinzler KW
Oncogene. 1999 ; 18 (35) : 5010-5014.
PMID 10490837
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written04-2000Nick CP Cross

Citation

This paper should be referenced as such :
Cross NCP . CDX2 (caudal-related homeobox 2). Atlas Genet Cytogenet Oncol Haematol. April 2000 .
URL : http://AtlasGeneticsOncology.org/Genes/CDX2ID326.html

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indexed on : Thu Jul 15 14:48:27 CEST 2010
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