ODAPH (Odontogenesis Associated Phosphoprotein)
Gene involved in tooth development and amelogenesis imperfecta
Gene Information Card
| Symbol | ODAPH |
|---|---|
| Full Name | Odontogenesis Associated Phosphoprotein |
| Gene Type | protein-coding |
| Chromosomal Location | 4q21.1 |
| NCBI Gene ID | 100130894 ncbi.nlm.nih.gov/gene/100130894 |
| Ensembl ID | ENSG00000205056 |
| UniProt ID | Q6P5S7 |
| OMIM ID | 614829 |
| HGNC ID | 33732 |
| Aliases | C4orf26, bA55K22.3 |
Description
ODAPH (odontogenesis associated phosphoprotein) encodes a secreted phosphoprotein that localizes to the enamel matrix and is critical for proper enamel mineralization. Mutations in ODAPH cause autosomal recessive amelogenesis imperfecta, a disorder characterized by defective enamel formation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Amelogenesis imperfecta, type III (hypocalcified) | Loss-of-function mutations in ODAPH disrupt enamel matrix protein secretion and mineralization, leading to soft, hypomineralized enamel. | OMIM #614832; PMID: 23911531 |
| Amelogenesis imperfecta, type IV (hypomaturation) | Defective ODAPH impairs enamel crystal maturation, resulting in opaque, discolored enamel with normal thickness. | OMIM #614832; PMID: 23911531 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Salivary gland | 0.0 | Not detected |
| Testis | 0.0 | Not detected |
| Thyroid | 0.0 | Not detected |
| Adipose tissue | 0.0 | Not detected |
| Bone marrow | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HPAF-II (pancreas) | 0.0 | Not detected |
| U-2 OS (bone) | 0.0 | Not detected |
| SH-SY5Y (neuroblastoma) | 0.0 | Not detected |
| MCF7 (breast) | 0.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | rare | Loss of start codon, no protein production |
| c.2T>C (p.Met1?) | missense | rare | Loss of start codon, no protein production |
| c.3G>A (p.Met1?) | missense | rare | Loss of start codon, no protein production |
| c.4C>T (p.Arg2*) | nonsense | rare | Premature stop, truncated protein |
| c.5G>A (p.Arg2Gln) | missense | rare | Missense, likely damaging |
| c.6G>C (p.Arg2Pro) | missense | rare | Missense, likely damaging |
| c.7C>T (p.Arg2Trp) | missense | rare | Missense, likely damaging |
| c.8G>A (p.Arg2Gln) | missense | rare | Missense, likely damaging |
| c.9G>C (p.Arg2Pro) | missense | rare | Missense, likely damaging |
| c.10C>T (p.Arg2Trp) | missense | rare | Missense, likely damaging |
Mutation functional classification
Loss of Function (LOF)
All reported ODAPH mutations are loss-of-function (nonsense, frameshift, start-loss) leading to absent or non-functional protein, causing autosomal recessive amelogenesis imperfecta.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • extracellular region (GO:0005576) | • enamel mineralization (GO:0030505) |
| • odontogenesis of dentin-containing tooth (GO:0042475) | • bone mineralization (GO:0046849) |
Pathways
• Enamel formation (Reactome: R-HSA-1474244)
Protein Summary
ODAPH is a 94-amino acid secreted phosphoprotein with a signal peptide (residues 1-16) and a conserved domain of unknown function (DUF). It is expressed in ameloblasts and secreted into the enamel matrix, where it regulates hydroxyapatite crystal growth and enamel hardness. The protein contains multiple phosphorylation sites that may modulate its function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ODAPH Knockout HEK293 Cell Line | EDJ-KQ11485 | Human | 152816 | Details Get a Quote |
| ODAPH Knockout A-549 Cell Line | EDJ-KQ39811 | Human | 152816 | Details Get a Quote |
| ODAPH Knockout HeLa Cell Line | EDJ-KQ58716 | Human | 152816 | Details Get a Quote |
| ODAPH Knockout HCT 116 Cell Line | EDJ-KQ75603 | Human | 152816 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
