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CDON

Chr 11q24.2

cell adhesion associated, oncogene regulated

Aliases:
ORCAM, CDO, CDON1, Ihog
MANE:
ENST00000531738.6

Annotations refreshed 10 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Fetal anomalies

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Holoprosencephaly

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Intellectual disability

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Structural eye disease

    BIALLELIC, autosomal or pseudoautosomal
  • Pituitary hormone deficiency

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Familial Neural Tube Defects

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

  • holoprosencephaly

    0.80
  • pituitary stalk interruption syndrome

    0.46
  • alobar holoprosencephaly

    0.38
  • microform holoprosencephaly

    0.38
  • septopreoptic holoprosencephaly

    0.38
  • semilobar holoprosencephaly

    0.37
  • midline interhemispheric variant of holoprosencephaly

    0.37
  • lobar holoprosencephaly

    0.37
  • coloboma

    0.26
  • benign thyroid gland neoplasm

    0.24

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

Protein function (UniProt)

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)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.