Atlas of Genetics and Cytogenetics in Oncology and Haematology

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CDX2 (caudal-related homeobox 2)

Written2000-04Nick CP Cross
Wessex Regional Genetics Laboratory Salisbury District Hospital Salisbury, SP2 8BJ, UK

(Note : for Links provided by Atlas : click)


Other aliasCDX3
LocusID (NCBI) 1045
Atlas_Id 326
Location 13q12.2  [Link to chromosome band 13q12]
Location_base_pair Starts at and ends at bp from pter
Local_order IPF1-CDX2- FLT3 -FLT1
  CDX2 (13q12) - 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)
CDX2 (13q12.2) / ETV6 (12p13.2)ETV6 (12p13.2) / CDX2 (13q12.2)


Description Three exons transcribed from telomere to centromere.


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.


Somatic Found to be mutated in rare cases of colorectal carcinoma

Implicated in

Entity t(12;13)(p13;q12) acute myeloid leukemia --> 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.


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
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
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


This paper should be referenced as such :
Cross, NCP
CDX2 (caudal-related homeobox 2)
Atlas Genet Cytogenet Oncol Haematol. 2000;4(2):60-61.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 6 ]
  t(12;13)(p12;q12-14) ETV6/CDX2
t(12;13)(p13;q12) ETV6/CDX2
12p rearrangements in CLL
t(12;13)(p12;q12-14) ETV6/CDX2
t(12;13)(p13;q12) ETV6/FLT3
t(12;13)(p13;q12) ETV6/CDX2

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Esophagus: Barrett's esophagus, dysplasia and adenocarcinoma

External links

Genomic and cartography
Gene and transcription
RefSeq transcript (Entrez)
RefSeq genomic (Entrez)
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)1045
Protein : pattern, domain, 3D structure
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Protein Interaction databases
Ontologies - Pathways
Clinical trials, drugs, therapy
canSAR (ICR) (select the gene name)
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Oct 18 17:31:39 CEST 2018

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