CDX2 (Homeobox protein CDX-2) variants and mutations

CDX2 (also known as Homeobox protein CDX-2) is a human protein-coding gene encoding a homeobox protein CDX-2 protein. It establishes and maintains intestinal epithelial identity by activating intestine-specific transcriptional programs. Loss or altered expression can accompany gastrointestinal tumor progression, while retained expression is widely used as a marker of intestinal differentiation. This analysis covers 684 CDX2 variants and mutations. Of these, 96% have computational variant effect predictions. Disease context includes neurodegenerative disease, multiple congenital anomalies/dysmorphic syndrome-intellectual disability, and lung carcinoma. Example CDX2 variants include Y2*, V3M, and S4R.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable CDX2 variants

Examples include Y2*, V3M, S4R, Y5C, L6F, L7P, D8E, D8G. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.