CDX2

Chr 13q12.2

caudal type homeobox 2

MANE:: ENST00000381020.8

OMIM: 600297 ↗NCBI: 1045 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

CDX2 · Q99626

v62025-08-01

Predicted Aligned Error matrix for CDX2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

61.6/ 100

Low

313 residues

Confidence breakdown

Very high(≥ 90)19%
Confident(70–90)7%
Low(50–70)36%
Very low(< 50)38%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
VACTERL-like phenotypes
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Non-syndromic familial congenital anorectal malformations
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

neurodegenerative disease
0.53
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
0.50
lung carcinoma
0.39
gastrointestinal stromal tumor
0.37
nodular malignant melanoma
0.37
superficial spreading melanoma
0.37
endometrial endometrioid adenocarcinoma
0.37
breast carcinoma
0.30
gastric carcinoma
0.30
esophageal adenocarcinoma
0.30

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Homeobox protein CDX-2

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 to the DNA sequence 5'-ATAAAAACTTAT-3' in the promoter region of VDR and activates VDR transcription (By similarity). Binds to and activates transcription of LPH (By similarity). Activates transcription of CLDN2 and intestinal mucin MUC2 (By similarity). Binds to the 5'-AATTTTTTACAACACCT-3' DNA sequence in the promoter region of CA1 and activates CA1 transcription (By similarity). Important in broad range of functions from early differentiation to maintenance of the intestinal epithelial lining of both the small and large intestine. Binds preferentially to methylated DNA (PubMed:28473536)