CDX2 (caudal-related homeobox 2)

2000-04-01   Nick CP Cross 

Wessex Regional Genetics Laboratory Salisbury District Hospital Salisbury, SP2 8BJ, UK

Identity

HGNC
CDX2
LOCATION
13q12.2
IMAGE
Atlas Image
LEGEND
CDX2 (13q12) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
LOCUSID
1045
ALIAS
CDX-3,CDX2/AS,CDX3
FUSION GENES
Show Gene Fusions

DNA/RNA

Description

Three exons transcribed from telomere to centromere.

Proteins

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 name
t(12;13)(p13;q12) acute myeloid leukemia --> ETV6/ CDX2
Fusion 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.

Bibliography

Pubmed IDLast YearTitleAuthors
99208521999Fusion of ETV6 to the caudal-related homeobox gene CDX2 in acute myeloid leukemia with the t(12;13)(p13;q12).Chase A et al
94590011997Cloning and chromosome assignment of the human CDX2 gene.Drummond F et al
97049321998CDX2, a human homologue of Drosophila caudal, is mutated in both alleles in a replication error positive colorectal cancer.Wicking C et al
104908371999CDX2 is mutated in a colorectal cancer with normal APC/beta-catenin signaling.da Costa LT et al

Other Information

Locus ID:

NCBI: 1045
MIM: 600297
HGNC: 1806
Ensembl: ENSG00000165556

Variants:

dbSNP: 1045
ClinVar: 1045
TCGA: ENSG00000165556
COSMIC: CDX2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000165556ENST00000381020Q99626

Expression (GTEx)

0
10
20
30
40
50
60
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Peptide hormone metabolismREACTOMER-HSA-2980736
Incretin synthesis, secretion, and inactivationREACTOMER-HSA-400508
Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1)REACTOMER-HSA-381771

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
152405682004SOX9 is an intestine crypt transcription factor, is regulated by the Wnt pathway, and represses the CDX2 and MUC2 genes.172
218163652011BRACHYURY and CDX2 mediate BMP-induced differentiation of human and mouse pluripotent stem cells into embryonic and extraembryonic lineages.116
267898702016CDX2 as a Prognostic Biomarker in Stage II and Stage III Colon Cancer.104
210747212010Differentiation-specific histone modifications reveal dynamic chromatin interactions and partners for the intestinal transcription factor CDX2.91
250427022014NANOG and CDX2 pattern distinct subtypes of human mesoderm during exit from pluripotency.64
212256312011MiR-9 downregulates CDX2 expression in gastric cancer cells.49
145764772003Cdx2 as a marker of epithelial intestinal differentiation in the esophagus.47
117333732001Loss of CDX2 expression and microsatellite instability are prominent features of large cell minimally differentiated carcinomas of the colon.46
195841502009Relationship of CDX2 loss with molecular features and prognosis in colorectal cancer.46
225478302012Transcription factors c-Myc and CDX2 mediate E-selectin ligand expression in colon cancer cells undergoing EGF/bFGF-induced epithelial-mesenchymal transition.46

Citation

Nick CP Cross

CDX2 (caudal-related homeobox 2)

Atlas Genet Cytogenet Oncol Haematol. 2000-04-01

Online version: http://atlasgeneticsoncology.org/gene/326/cdx2