Download Gene Section CDX2 (caudal-related homeobox 2) Atlas of Genetics and Cytogenetics

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Transcript
Atlas of Genetics and Cytogenetics
in Oncology and Haematology
OPEN ACCESS JOURNAL AT INIST-CNRS
Gene Section
Short Communication
CDX2 (caudal-related homeobox 2)
Nick CP Cross
Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, SP2 8BJ, UK (NCPC)
Published in Atlas Database: April 2000
Online updated version : http://AtlasGeneticsOncology.org/Genes/CDX2ID326.html
DOI: 10.4267/2042/37611
This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence.
© 2000 Atlas of Genetics and Cytogenetics in Oncology and Haematology
Expression
Identity
Nuclear protein normally expressed almost exclusively
in the intestine, where it plays a role in the proliferation
and differentiation of intestinal epithelial cells.
Other names: CDX3
HGNC (Hugo): CDX2
Location: 13q12.3
Local order: IPF1-CDX2- FLT3 -FLT1.
Mutations
Somatic
Found to be mutated in rare cases of colorectal
carcinoma.
Implicated in
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.
References
CDX2 (13q12) - Courtesy Mariano Rocchi, Resources for
Molecular Cytogenetics.
Drummond F, Putt W, Fox M, Edwards YH. Cloning and
chromosome assignment of the human CDX2 gene. Ann Hum
Genet. 1997 Sep;61(Pt 5):393-400
DNA/RNA
Description
Wicking C, Simms LA, Evans T, Walsh M, Chawengsaksophak
K, Beck F, Chenevix-Trench G, Young J, Jass J, Leggett B,
Wainwright B. CDX2, a human homologue of Drosophila
caudal, is mutated in both alleles in a replication error positive
colorectal cancer. Oncogene. 1998 Aug 6;17(5):657-9
Three exons transcribed from telomere to centromere.
Protein
Chase A, Reiter A, Burci L, Cazzaniga G, Biondi A, Pickard J,
Roberts IA, Goldman JM, Cross NC. Fusion of ETV6 to the
caudal-related homeobox gene CDX2 in acute myeloid
leukemia with the t(12;13)(p13;q12). Blood. 1999 Feb
1;93(3):1025-31
Description
311 amino acid protein of MW 33kDa. Class I
homeobox gene related to Drosophila caudal.
Atlas Genet Cytogenet Oncol Haematol. 2000; 4(2)
60
CDX2 (caudal-related homeobox 2)
Cross NCP
da Costa LT, He TC, Yu J, Sparks AB, Morin PJ, Polyak K,
Laken S, Vogelstein B, Kinzler KW. CDX2 is mutated in a
colorectal cancer with normal APC/beta-catenin signaling.
Oncogene. 1999 Sep 2;18(35):5010-4
Atlas Genet Cytogenet Oncol Haematol. 2000; 4(2)
This article should be referenced as such:
Cross NCP. CDX2 (caudal-related homeobox 2). Atlas Genet
Cytogenet Oncol Haematol. 2000; 4(2):60-61.
61
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