CDX2 (caudal type homeobox 2)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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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.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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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.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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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.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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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.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
600297 1806 ENSG00000165556
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Gastric cancer   Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1)
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Sirenomelia Likely pathogenic rs1593181774 RCV001003392
Show/Hide Unknown Diseases (2)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Anorectal malformation Conflicting classifications of pathogenicity rs2500255754 RCV003127191
See cases Uncertain significance rs2500278420 RCV004527498
Show/Hide Text Mining Associations (186)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 15205684, 15211476, 15333652, 15452161, 15803184, 15974817, 17425380, 17967182, 17979487, 20563874, 21221877, 22268990, 23382633, 24489794, 25690258
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Adenocarcinoma Inhibit 30173239, 38155448
Adenocarcinoma Stimulate 34563241
Adenocarcinoma Mucinous Associate 20139757, 24342438, 26797858, 29698701, 38155448
Adenocarcinoma of Lung Associate 17967182, 21731750
Adenoma Associate 21154739, 30229897
Adenomatous Polyposis Coli Associate 19820687, 35074964
Anodontia Associate 36928082
Anorectal Malformations Associate 34671974, 37816608
Anus Imperforate Associate 34671974