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CDX2 (caudal-related homeobox 2)

Identity

Other namesCDX3
HGNC CDX2
Location 13q12.3
Location_base_pair Starts at 27434278 and ends at 27441317 bp from pter ( according to hg18-Mar_2006).
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
HGNCCDX2   1806
Entrez_GeneCDX2  1045  caudal type homeobox 2
Cards
AtlasCDX2ID326
GeneCardsCDX2
EnsemblENSG00000165556 [Gene_View]  CDX2 [Vega]
GenatlasCDX2
Genomic and cartography
GoldenPathCDX2  -  13q12.3   chr13:27434278-27441317 -  13q12.3   [Description]    (hg18-Mar_2006)
EnsemblCDX2 - 13q12.3 [CytoView]
NCBIMapview
OMIM600297 Disease map [OMIM]
HomoloGeneCDX2
Gene and transcription
GenbankBC014461 [ ENTREZ ]
GenbankDQ893626 [ ENTREZ ]
GenbankEU176674 [ ENTREZ ]
GenbankU51096 [ ENTREZ ]
GenbankY13709 [ ENTREZ ]
RefSeqNM_001265 [ SRS ]    NM_001265 [ ENTREZ ]
RefSeqAC_000056 [ SRS ]    AC_000056 [ ENTREZ ]
RefSeqAC_000145 [ SRS ]    AC_000145 [ ENTREZ ]
RefSeqNC_000013 [ SRS ]    NC_000013 [ ENTREZ ]
RefSeqNT_024524 [ SRS ]    NT_024524 [ ENTREZ ]
RefSeqNW_001838071 [ SRS ]    NW_001838071 [ ENTREZ ]
RefSeqNW_925473 [ SRS ]    NW_925473 [ ENTREZ ]
CCDSCDX2 CCDS - NCBI
AceViewCDX2 AceView - NCBI
UnigeneHs.174249 [ SRS ]    Hs.174249 [ NCBI ]
Fast-db1920 (alternative variants)
Protein : pattern, domain, 3D structure
SwissProtQ99626 [ SRS]    Q99626 [ EXPASY ]     Q99626 [ INTERPRO ]     Q99626 [ UNIPROT ] Q99626 [ VarSplice FASTA ]
PrositePS00027 HOMEOBOX_1 [ SRS ]    PS00027 HOMEOBOX_1 [ Expasy ]
PrositePS50071 HOMEOBOX_2 [ SRS ]    PS50071 HOMEOBOX_2 [ Expasy ]
InterproIPR006820 Caudal_act [ SRS ]    IPR006820 Caudal_act [ EBI ]
InterproIPR015705 Cdx [ SRS ]    IPR015705 Cdx [ EBI ]
InterproIPR001356 Homeobox [ SRS ]    IPR001356 Homeobox [ EBI ]
InterproIPR012287 Homeodomain-rel [ SRS ]    IPR012287 Homeodomain-rel [ EBI ]
InterproIPR000047 HTH_lambrepressr [ SRS ]    IPR000047 HTH_lambrepressr [ EBI ]
CluSTrQ99626
PfamPF04731 Caudal_act [ SRS ]    PF04731 Caudal_act [ Sanger ]    pfam04731 [ NCBI-CDD ]
PfamPF00046 Homeobox [ SRS ]    PF00046 Homeobox [ Sanger ]    pfam00046 [ NCBI-CDD ]
SmartSM00389 HOX [EMBL]
ProdomPD000010 Homeobox[INRA-Toulouse]
ProdomQ99626 CDX2_HUMAN [ Domain structure ]   Q99626 CDX2_HUMAN  [ sequences sharing at least 1 domain ]
BlocksQ99626
HPRD02622
Protein Interaction databases
DIPQ99626
IntActQ99626
Polymorphism : SNP, mutations, diseases
OMIM600297    [ map ]   
GENETests600297
SNPCDX2 [dbSNP-NCBI]  
SNPNM_001265 [SNP-NCI]  
SNPCDX2 [GeneSNPs - Utah]  CDX2] [HGBASE - SRS]
HAPMAPCDX2 [HAPMAP]  
COSMICCDX2 [Somatic mutation (COSMIC-CGP-Sanger)]  
TICdbCDX2 [Translocation breakpoints In Cancer]  
HGMDCDX2
Genetic AssociationCDX2
CDC HuGECDX2
General knowledge
Family BrowserCDX2 [UCSC Family Browser]
SOURCENM_001265
SMDHs.174249
SAGEHs.174249
GOcondensed nuclear chromosome [Amigo]  condensed nuclear chromosome
GOblood vessel development [Amigo]  blood vessel development
GOblastocyst development [Amigo]  blastocyst development
GOplacenta development [Amigo]  placenta development
GOtranscription factor activity [Amigo]  transcription factor activity
GOnucleus [Amigo]  nucleus
GOregulation of transcription, DNA-dependent [Amigo]  regulation of transcription, DNA-dependent
GOtranscription from RNA polymerase II promoter [Amigo]  transcription from RNA polymerase II promoter
GOpattern specification process [Amigo]  pattern specification process
GOcell differentiation [Amigo]  cell differentiation
GOsequence-specific DNA binding [Amigo]  sequence-specific DNA binding
PubGeneCDX2
TreeFamCDX2
CTD1045 [Comparative ToxicoGenomics Database]
Other databases
Probes
ProbeCancer Cytogenetics (Bari)
ProbeCDX2 Related clones (RZPD - Berlin)
PubMed
PubMed79 Pubmed reference(s) in Entrez

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

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Dec 6 17:54:39 2008


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