Gene Gene information from NCBI Gene database.
Entrez ID 1045
Gene name Caudal type homeobox 2
Gene symbol CDX2
Synonyms (NCBI Gene)
CDX-3CDX2/ASCDX3
Chromosome 13
Chromosome location 13q12.2
Summary This gene is a member of the caudal-related homeobox transcription factor gene family. The encoded protein is a major regulator of intestine-specific genes involved in cell growth an differentiation. This protein also plays a role in early embryonic devel
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs1593181774 A>G Likely-pathogenic Stop lost, terminator codon variant, 3 prime UTR variant, genic downstream transcript variant, downstream transcript variant
miRNA miRNA information provided by mirtarbase database.
75
miRTarBase ID miRNA Experiments Reference
MIRT000245 hsa-miR-181a-5p Luciferase reporter assay 19585654
MIRT000240 hsa-miR-181b-5p Luciferase reporter assay 19585654
MIRT000235 hsa-miR-181c-5p Luciferase reporter assay 19585654
MIRT005783 hsa-miR-9-5p FlowImmunohistochemistryLuciferase reporter assayWestern blot 21225631
MIRT005783 hsa-miR-9-5p FlowImmunohistochemistryLuciferase reporter assayWestern blot 21225631
Transcription factors Transcription factors information provided by TRRUST V2 database.
5
Transcription factor Regulation Reference
GATA3 Activation 19700764
KLF4 Unknown 23202735
NANOG Repression 15983365
POU2F1 Unknown 16278805
POU5F1 Repression 17068183
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
53
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 15677472
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000785 Component Chromatin ISA
GO:0000794 Component Condensed nuclear chromosome IEA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600297 1806 ENSG00000165556
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q99626
Protein name Homeobox protein CDX-2 (CDX-3) (Caudal-type homeobox protein 2)
Protein function Transcription factor which regulates the transcription of multiple genes expressed in the intestinal epithelium (By similarity). Binds to the promoter of the intestinal sucrase-isomaltase SI and activates SI transcription (By similarity). Binds
PDB 5LTY , 6ES2 , 6ES3 , 7Q4N
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04731 Caudal_act 13 179 Caudal like protein activation region Family
PF00046 Homeodomain 187 243 Homeodomain Domain
Tissue specificity TISSUE SPECIFICITY: Detected in small intestine, colon and pancreas. {ECO:0000269|PubMed:9933478}.
Sequence
Sequence length 313
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Gastric cancer   Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1)
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Sirenomelia Likely pathogenic rs1593181774 RCV001003392
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Anorectal malformation Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLONIC NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PEPTIC ULCER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute leukemia Leukemia BEFREE 22189105, 22547580
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 19158837
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 11733373, 15205684, 15362373, 15722794, 15894926, 16291394, 17549351, 17852856, 18038313, 18156982, 18500171, 18753946
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 12548159, 15894926, 15910596, 15974817, 16027724, 16291394, 16314840, 16361536, 17458588, 17852856, 18665037, 19795349, 21935353, 21950830, 22963903
View all (19 more)
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of ampulla of Vater Adenocarcinoma BEFREE 31689805
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of colon Adenocarcinoma Of Colon BEFREE 31520753, 9396760
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 15452161, 16291394, 17534889, 19415720, 21935353, 24117650
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer BEFREE 15894926, 16470859, 20514449, 29519711, 29924451
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 12548159, 15141379, 23108025, 26341558, 26469326, 30018118
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of pancreas Pancreatic adenocarcinoma BEFREE 23887294, 26269116
★☆☆☆☆
Found in Text Mining only