CDON Cell Adhesion Associated, Oncogene Regulated
Key regulator in Hedgehog signaling and muscle development
Gene Information Card
| Symbol | CDON |
|---|---|
| Full Name | Cell Adhesion Associated, Oncogene Regulated |
| Gene Type | Protein coding |
| Chromosomal Location | 11q24.2 |
| NCBI Gene ID | 50937 ncbi.nlm.nih.gov/gene/50937 |
| Ensembl ID | ENSG00000164309 |
| UniProt ID | Q4KMG0 |
| OMIM ID | 608707 |
| HGNC ID | 17104 |
| Aliases | CDO, HPE11, Cdon homolog |
Description
CDON (Cell Adhesion Associated, Oncogene Regulated) encodes a transmembrane protein that functions as a coreceptor in the Hedgehog signaling pathway. It is involved in cell adhesion, myogenic differentiation, and embryonic development. Mutations in CDON are associated with holoprosencephaly and other developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Holoprosencephaly 11 | Loss-of-function mutations impair Hedgehog signaling, disrupting forebrain development | OMIM #608707 |
| Holoprosencephaly (non-syndromic) | Heterozygous missense variants reduce CDON activity | ClinVar |
| Medulloblastoma | Altered CDON expression may contribute to SHH-subtype medulloblastoma | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 12.5 | Medium |
| Heart | 8.3 | Medium |
| Brain | 6.1 | Low |
| Lung | 4.2 | Low |
| Liver | 1.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| RH-30 (rhabdomyosarcoma) | 15.2 | High expression |
| SH-SY5Y (neuroblastoma) | 9.8 | Medium expression |
| HEK 293 | 7.1 | Medium expression |
| HepG2 (hepatocellular carcinoma) | 2.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.226C>T (p.Arg76Trp) | Missense | Rare | Reduced Hedgehog signaling |
| c.1054G>A (p.Gly352Ser) | Missense | Rare | Impaired cell adhesion |
| c.1342delC (p.Leu448Trpfs*12) | Frameshift | Very rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Most CDON mutations are loss-of-function, reducing Hedgehog pathway activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Some missense variants may exert dominant-negative effects by interfering with wild-type CDON.
View complete mutation data：
Gene Ontology (GO)
| • cell adhesion (GO:0007155) | • smoothened signaling pathway (GO:0007224) |
| • myoblast differentiation (GO:0014909) | • plasma membrane (GO:0005886) |
| • identical protein binding (GO:0042802) |
Pathways
• Hedgehog signaling pathway (Reactome R-HSA-5358351)
• Cell adhesion molecules (CAMs) (KEGG hsa04514)
Protein Summary
CDON is a single-pass type I transmembrane protein with five immunoglobulin-like domains and three fibronectin type III domains in its extracellular region. It acts as a coreceptor for Sonic Hedgehog (SHH) by binding SHH and forming a complex with BOC and PTCH1, thereby promoting pathway activation. CDON also mediates cell-cell adhesion and is essential for myogenic differentiation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CDON Knockout HEK293 Cell Line | EDJ-KQ885 | Human | 50937 | Details Get a Quote |
| CDON Knockout A-549 Cell Line | EDJ-KQ19714 | Human | 50937 | Details Get a Quote |
| CDON Knockout HCT 116 Cell Line | EDJ-KQ19715 | Human | 50937 | Details Get a Quote |
| CDON Knockout HeLa Cell Line | EDJ-KQ19716 | Human | 50937 | Details Get a Quote |
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