CDX2 (caudal type homeobox 2)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1045
Gene name Gene Name - the full gene name approved by the HGNC.
Caudal type homeobox 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CDX2
Synonyms (NCBI Gene) Gene synonyms aliases
CDX-3, CDX2/AS, CDX3
Chromosome Chromosome number
13
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
13q12.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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 Flow, Immunohistochemistry, Luciferase reporter assay, Western blot 21225631
MIRT005783 hsa-miR-9-5p Flow, Immunohistochemistry, Luciferase reporter assay, Western blot 21225631
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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 information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
600297 1806 ENSG00000165556
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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 categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Sirenomelia sirenomelia rs1593181774 N/A
Show/Hide Text Mining Associations (186)
Associations from Text Mining Disease 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
View all (12 more)
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