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CDX2 (caudal-related homeobox 2)

Identity

Other namesCDX3
HGNC (Hugo) CDX2
LocusID (NCBI) 1045
Location 13q12.3
Location_base_pair Starts at 28536205 and ends at 28543505 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]  chr13:28536205-28543505 [Contig_View]  CDX2 [Vega]
AceView (NCBI)CDX2
Genatlas (Paris)CDX2
euGene (Indiana)1045
SOURCE (Stanford)NM_001265
Genomic and cartography
GoldenPath (UCSC)CDX2  -  13q12.3   chr13:28536205-28543505 -  13q12.3   [Description]    (hg19-Feb_2009)
EnsemblCDX2 - 13q12.3 [CytoView]
Mapping of homologs : NCBICDX2 [Mapview]
OMIM600297   
Gene and transcription
Genbank (Entrez)BC014461 BI085425 DQ893626 EU176674 U51096
RefSeq transcript (SRS)NM_001265
RefSeq transcript (Entrez)NM_001265
RefSeq genomic (SRS)AC_000145 NC_000013 NT_024524 NW_001838071
RefSeq genomic (Entrez)AC_000145 NC_000013 NT_024524 NW_001838071
Consensus coding sequences : CCDS (NCBI)CDX2
Cluster EST : UnigeneHs.174249 [ SRS ] Hs.174249 [ NCBI ]
Alternative Splicing : Fast-db (Paris)1920
Alternative Splicing GalleryENSG00000165556
Gene ExpressionCDX2 [ NCBI-GEO ]   CDX2 [ EBI - ARRAY_EXPRESS ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ99626 (SRS) Q99626 (Uniprot)
With graphics : InterProQ99626
Splice isoforms : SwissVarQ99626(Swissvar)
Domaine pattern : Prosite (SRS)HOMEOBOX_1 (PS00027)    HOMEOBOX_2 (PS50071)   
Domaine pattern : Prosite (Expaxy)HOMEOBOX_1 (PS00027)    HOMEOBOX_2 (PS50071)   
Domains : Interpro (SRS)Caudal_activation_dom    Homeobox_CS    Homeobox_metazoa    Homeodomain    Homeodomain-like    HTH_motif   
Domains : Interpro (EBI)Caudal_activation_dom    Homeobox_CS    Homeobox_metazoa    Homeodomain    Homeodomain-like    HTH_motif   
Related proteins : CluSTrQ99626
Domain families : Pfam (SRS)Caudal_act (PF04731)    Homeobox (PF00046)   
Domain families : Pfam (Sanger)Caudal_act (PF04731)    Homeobox (PF00046)   
Domain families : Pfam (NCBI)pfam04731    pfam00046   
Domain families : Smart (EMBL)HOX (SM00389)  
Blocks (Seattle)Q99626
Human Protein AtlasENSG00000165556
HPRD02622
IPIIPI00016928   IPI01024878   
Protein Interaction databases
DIP (DOE-UCLA)Q99626
IntAct (EBI)Q99626
FunCoupENSG00000165556
REACTOMECDX2
BioGRIDCDX2
InParanoidQ99626
Interologous Interaction database Q99626
Polymorphism : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)CDX2
SNP (GeneSNP Utah)CDX2
SNP : HGBaseCDX2
Genetic variants : HAPMAPCDX2
Cancer Gene: CensusCDX2 
Somatic Mutations in Cancer : COSMICCDX2 
CONAN: Copy Number AnalysisCDX2 
Translocation Breakpoints in Cancer : TICdbCDX2 
Mutations and Diseases : HGMDCDX2
OMIM600297   
GENETests600297   
Disease Genetic AssociationCDX2
Huge Navigator CDX2 [HugePedia]  CDX2 [HugeCancerGEM]
Genomic VariantsCDX2
snp3D : Map Gene to Disease1045
General knowledge
Homologs : HomoloGeneCDX2
Homology/Alignments : Family Browser (UCSC)CDX2
Phylogenetic Trees/Animal Genes : TreeFamCDX2
Chemical/Protein Interactions : CTD1045
Chemical/Pharm GKB GenePA26352
Clinical trialCDX2
Cancer Resource (Charite)ENSG00000165556
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  condensed nuclear chromosome  transcription regulatory region sequence-specific DNA binding  blood vessel development  blastocyst development  trophectodermal cell differentiation  placenta development  sequence-specific DNA binding transcription factor activity  transcription corepressor activity  nucleus  regulation of transcription, DNA-dependent  transcription from RNA polymerase II promoter  pattern specification process  organ morphogenesis  anterior/posterior pattern specification  transcriptional repressor complex  somatic stem cell maintenance  positive regulation of cell differentiation  labyrinthine layer development  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  condensed nuclear chromosome  transcription regulatory region sequence-specific DNA binding  blood vessel development  blastocyst development  trophectodermal cell differentiation  placenta development  sequence-specific DNA binding transcription factor activity  transcription corepressor activity  nucleus  regulation of transcription, DNA-dependent  transcription from RNA polymerase II promoter  pattern specification process  organ morphogenesis  anterior/posterior pattern specification  transcriptional repressor complex  somatic stem cell maintenance  positive regulation of cell differentiation  labyrinthine layer development  
Other databases
Probes
ProbeCancer Cytogenetics (Bari)
Probes : ImagenesCDX2 Related clones (RZPD - Berlin)
Litterature
PubMed156 Pubmed reference(s) in Entrez
PubGeneCDX2
iHOPCDX2

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

This paper is referenced by INIST as such :
http://documents.irevues.inist.fr/bitstream/2042/37611/1/04-2000-CDX2ID326.pdf   [ Bibliographic record ]

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