AlphaFold predicted structure
CDON · Q4KMG0

Mean pLDDT
62.0/ 100
Low
1,287 residues
Confidence breakdown
- Very high(≥ 90)10%
- Confident(70–90)42%
- Low(50–70)12%
- Very low(< 50)37%
AlphaFold (Jumper et al., 2021) · CC BY 4.0
cell adhesion associated, oncogene regulated
Annotations refreshed 10 hours ago.
Diagnostic Grade (Green)
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownHoloprosencephaly
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedStructural eye disease
BIALLELIC, autosomal or pseudoautosomalPituitary hormone deficiency
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFamilial Neural Tube Defects
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownholoprosencephaly
pituitary stalk interruption syndrome
alobar holoprosencephaly
microform holoprosencephaly
septopreoptic holoprosencephaly
semilobar holoprosencephaly
midline interhemispheric variant of holoprosencephaly
lobar holoprosencephaly
coloboma
benign thyroid gland neoplasm
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Cell adhesion molecule-related/down-regulated by oncogenes
Together with BOC, forms a coreceptor required for sonic hedgehog (SHH) handoff to its patched receptor (PTCH1 or PTCH2), thereby allowing activation of the smoothened signaling pathway (By similarity). Binds to the dually lipid-modified Sonic hedgehog protein N-product (ShhN) downstream of SCUBE2 carrier and promotes its release to GAS1 (By similarity). ShhN is then directly transferred to patched receptor by GAS1 (By similarity). May also mediate cell-cell interactions between muscle precursor cells, promoting differentiation of myogenic cells (By similarity)
CDON · Q4KMG0

Mean pLDDT
62.0/ 100
Low
1,287 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0