CDX1

Chr 5q32

caudal type homeobox 1

MANE:: ENST00000231656.13

OMIM: 600746 ↗NCBI: 1044 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

CDX1 · P47902

v62025-08-01

Predicted Aligned Error matrix for CDX1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

66.7/ 100

Low

265 residues

Confidence breakdown

Very high(≥ 90)22%
Confident(70–90)9%
Low(50–70)54%
Very low(< 50)16%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Non-syndromic familial congenital anorectal malformations
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paediatric disorders - additional genes
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

anorectal malformation
0.48
neurodegenerative disease
0.47
colorectal cancer
0.34
Familial Scheuermann disease
0.10
Scheuermann disease
0.10
spondylolisthesis
0.10
autosomal recessive spondylocostal dysostosis
0.10
gastric cancer
0.09
primary basilar invagination
0.09
Primary basilar impression
0.09

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

Protein function (UniProt)

Homeobox protein CDX-1

Plays a role in transcriptional regulation (PubMed:24623306). Involved in activated KRAS-mediated transcriptional activation of PRKD1 in colorectal cancer (CRC) cells (PubMed:24623306). Binds to the PRKD1 promoter in colorectal cancer (CRC) cells (PubMed:24623306). Could play a role in the terminal differentiation of the intestine. Binds preferentially to methylated DNA (PubMed:28473536)