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GeneE
7 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ODAPH
odontogenesis associated phosphoprotein
Chromosome 4 Β· 4q21.1
NCBI Gene: 152816Ensembl: ENSG00000174792.11HGNC: HGNC:26300UniProt: A0A087WV33
11PubMed Papers
21Diseases
0Drugs
7Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingpositive regulation of biomineral tissue developmentpositive regulation of enamel mineralizationextracellular regionamelogenesis imperfecta hypomaturation type 2A4Hypomaturation amelogenesis imperfectabreast diseaseovarian neoplasm
✦AI Summary

ODAPH (odontogenesis-associated phosphoprotein) is a specialized protein critical for enamel formation, functioning primarily during the maturation stage of amelogenesis. ODAPH is specifically expressed by ameloblasts from the post-secretory transition phase through mid-maturation 1 and localizes to the atypical basal lamina at the interface between maturation ameloblasts and developing enamel 2. Mechanistically, ODAPH promotes ameloblast adhesion and enamel mineralization through the LAMC2/ITGB6/TGF-Ξ²1/alkaline phosphatase signaling pathway 3. ODAPH directly interacts with laminin-Ξ³2 (LAMC2), facilitating integrin-Ξ²6-dependent TGF-Ξ²1 signaling that activates alkaline phosphatase, essential for mineralization 3. The protein maintains integrity of the atypical basal lamina by preserving expression of maturation-stage genes including AMTN, KLK4, and SLC24A4 2. Loss-of-function ODAPH mutations cause autosomal recessive amelogenesis imperfecta (AI), specifically hypocalcified type IIIB and hypomaturation phenotypes 4. ODAPH-deficient mice exhibit failed ameloblast transition to maturation stage, with ameloblasts losing polarity and forming cyst-like structures, resulting in severely reduced enamel mineralization and retention of enamel matrix 21. ODAPH transcript variant 2 (TV2) is the critical isoform for normal enamel and dentin-pulp development 4.

Sources cited
1
ODAPH is specifically expressed by ameloblasts during post-secretory transition through mid-maturation; truncation mutations block ameloblast transition into maturation stage
PMID: 33441959
2
ODAPH localizes to atypical basal lamina; maintains integrity through LAMC2 and AMTN expression; Odaph knockout causes maturation stage defects and reduced mineralization
PMID: 33772937
3
ODAPH promotes ameloblast adhesion and mineralization via LAMC2/ITGB6/TGF-Ξ²1/ALP signaling; directly interacts with LAMC2
PMID: 40680053
4
Novel ODAPH mutations cause hypocalcified amelogenesis imperfecta type IIIB; ODAPH TV2 is critical isoform for enamel and dentin-pulp development
PMID: 38303846
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
amelogenesis imperfecta hypomaturation type 2A4Open Targets
0.60Moderate
Hypomaturation amelogenesis imperfectaOpen Targets
0.47Moderate
breast diseaseOpen Targets
0.27Weak
ovarian neoplasmOpen Targets
0.14Weak
type 2 diabetes mellitusOpen Targets
0.10Weak
musculoskeletal system diseaseOpen Targets
0.10Weak
nervous system diseaseOpen Targets
0.10Weak
Hypoplastic amelogenesis imperfectaOpen Targets
0.10Weak
frozen shoulderOpen Targets
0.10Suggestive
amelogenesis imperfectaOpen Targets
0.09Suggestive
amelogenesis imperfecta, type ijOpen Targets
0.08Suggestive
dentin dysplasia type IOpen Targets
0.08Suggestive
Dental ankylosisOpen Targets
0.07Suggestive
tooth agenesisOpen Targets
0.07Suggestive
amelogenesis imperfecta, IIa 1KOpen Targets
0.07Suggestive
cleft palateOpen Targets
0.07Suggestive
amelogenesis imperfecta type 3BOpen Targets
0.07Suggestive
keratosis pilaris atrophicansOpen Targets
0.07Suggestive
amelogenesis imperfecta type 1AOpen Targets
0.07Suggestive
dentin dysplasia type IIOpen Targets
0.07Suggestive
Amelogenesis imperfecta, hypomaturation type, 2A4UniProt
Pathogenic Variants7
NM_178497.5(ODAPH):c.225dup (p.Pro76fs)Likely pathogenic
Amelogenesis imperfecta hypomaturation type 2A4
β˜…β˜†β˜†β˜†2026β†’ Residue 76
NM_178497.5(ODAPH):c.229C>T (p.Arg77Ter)Pathogenic
Amelogenesis imperfecta hypomaturation type 2A4|not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 77
NM_178497.5(ODAPH):c.51_56delinsATGCTGGTTACTGGTA (p.Val18fs)Likely pathogenic
Amelogenesis imperfecta hypomaturation type 2A4|ODAPH-related disorder
β˜…β˜†β˜†β˜†2023β†’ Residue 18
NM_178497.3(C4orf26):c.318G>ALikely pathogenic
Amelogenesis imperfecta hypomaturation type 2A4|ODAPH-related disorder
β˜…β˜†β˜†β˜†2022
NM_178497.5(ODAPH):c.68-2A>GLikely pathogenic
ODAPH-related disorder
β˜†β˜†β˜†β˜†2024
NM_178497.5(ODAPH):c.129C>A (p.Cys43Ter)Pathogenic
Amelogenesis imperfecta hypomaturation type 2A4
β˜†β˜†β˜†β˜†2012β†’ Residue 43
NM_178497.5(ODAPH):c.68-2A>TPathogenic
Amelogenesis imperfecta hypomaturation type 2A4
β˜†β˜†β˜†β˜†2012
View on ClinVar β†—
Related Genes
WDR72Protein interaction97%AMBNProtein interaction73%AMELXProtein interaction73%MMP20Protein interaction73%AMTNProtein interaction68%ENAMProtein interaction64%
Tissue Expression6 tissues
Brain
100%
Ovary
94%
Liver
78%
Lung
65%
Bone Marrow
0%
Heart
0%
Gene Interaction Network
Click a node to explore
ODAPHWDR72AMBNAMELXMMP20AMTNENAM
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q17RF5
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.70LoF Tolerant
pLIβ“˜
0.07Tolerant
Observed/Expected LoF0.74 [0.33–1.70]
RankingsWhere ODAPH stands among ~20K protein-coding genes
  • #16,840of 20,598
    Most Researched11
  • #3,276of 5,498
    Most Pathogenic Variants7
  • #16,125of 17,882
    Most Constrained (LOEUF)1.70
Genes detectedODAPH
Sources retrieved7 papers
Response timeβ€”
πŸ“„ Sources
7β–Ό
1
A novel
PMID: 38303846
J Dent Sci Β· 2024
1.00
2
Maturation stage enamel defects in Odontogenesis-associated phosphoprotein (Odaph) deficient mice.
PMID: 33772937
Dev Dyn Β· 2021
0.86
3
Identification of disulfidptosis-associated genes and characterization of immune cell infiltration in thyroid carcinoma.
PMID: 38836761
Aging (Albany NY) Β· 2024
0.71
4
Odontogenesis-associated phosphoprotein truncation blocks ameloblast transition into maturation in Odaph
PMID: 33441959
Sci Rep Β· 2021
0.57
5
Odontogenesis-associated phosphoprotein (ODAPH) Promotes Ameloblast adhesion and alkaline phosphatase (ALP) expression via LAMC2/ ITGB6/TGF-Ξ²1 signaling pathway.
PMID: 40680053
PLoS One Β· 2025
0.43