CDX2 Chromosome 13
Caudal type homeobox 2
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What This Gene Does
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 development of the intestinal tract. Aberrant expression of this gene is associated with intestinal inflammation and tumorigenesis. [provided by RefSeq, Jan 2012]
Gene Info
Gene Group
HOXL subclass homeoboxes
Locus Type
gene with protein product
Location
13q12.2
Ensembl
ENSG00000165556
Associated Conditions (2)
Anorectal malformation
Sirenomelia
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2500255754 | Health Risk | Conflicting classifications of pathogenicity | Anorectal malformation, Anorectal malformation |
| RS1593181774 | Health Risk | Likely pathogenic | Sirenomelia, Sirenomelia |