ODAPH (odontogenesis associated phosphoprotein)

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Gene Gene information from NCBI Gene database.
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Entrez ID 152816
Gene name Odontogenesis associated phosphoprotein
Gene symbol ODAPH
Synonyms (NCBI Gene)
AI2A4C4orf26
Chromosome 4
Chromosome location 4q21.1
Summary Dental enamel forms the outer cap of teeth and is the hardest substance found in vertebrates. This gene is thought to encode an extracellular matrix acidic phosphoprotein that has a function in enamel mineralization during amelogenesis. Mutations in this
SNPs SNP information provided by dbSNP.
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SNP ID Visualize variation Clinical significance Consequence
rs146645381 G>A Pathogenic Missense variant, intron variant, stop gained, coding sequence variant
rs866941536 C>T Pathogenic Synonymous variant, coding sequence variant, intron variant, stop gained
rs1560558455 GGTAAC>ATGCTGGTTACTGGTA Pathogenic Frameshift variant, non coding transcript variant, coding sequence variant
rs1560562630 A>T Pathogenic Splice acceptor variant
rs1560562738 C>A Pathogenic Stop gained, non coding transcript variant, coding sequence variant, missense variant
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 32296183
GO:0005576 Component Extracellular region IEA
GO:0070169 Process Positive regulation of biomineral tissue development IMP 22901946
GO:0070175 Process Positive regulation of enamel mineralization IBA
GO:0070175 Process Positive regulation of enamel mineralization IMP 22901946
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
614829 26300 ENSG00000174792
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q17RF5
Protein name Odontogenesis associated phosphoprotein
Protein function May promote nucleation of hydroxyapatite.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15848 ODAPH 25 → 129 Odontogenesis associated phosphoprotein Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in placenta. {ECO:0000269|PubMed:22901946}.
Sequence 
MARRHCFSYWLLVCWLVVTVAEGQEEVFTPPGDSQNNADATDCQIFTLTPPPAPRSPVTR
AQPITKTPRCPFHFFPRRPRIHFRFPNRPFVPSRCNHRFPFQPFYWPHRYLTYRYFPRRR
LQRGSSSEES
Sequence length 130
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Amelogenesis imperfecta hypomaturation type 2A4 Pathogenic; Likely pathogenic rs866941536, rs1560562738, rs1560562630, rs146645381, rs1560558455 RCV000030791
RCV000030792
RCV000030793
RCV000030794
RCV000030795
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ODAPH-related disorder Likely pathogenic rs146645381, rs1560558455 RCV003407374
RCV003407375
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (9)
Phenotype Name Clinical Significance Source Reference Evidence Score
AMELOGENESIS IMPERFECTA — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMELOGENESIS IMPERFECTA HYPOMATURATION TYPE — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMELOGENESIS IMPERFECTA TYPE 2 — GWAS catalog 22901946
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA4 — CTD, Disgenet, HPO
CTD, Disgenet, HPO
CTD, Disgenet, HPO 		—
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DENTIN DYSPLASIA — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (12)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Amelogenesis Imperfecta Amelogenesis imperfecta BEFREE 22901946, 27558265
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Amelogenesis Imperfecta Amelogenesis imperfecta Pubtator 22901946 Associate
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Amelogenesis Imperfecta Amelogenesis imperfecta HPO_DG
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Amelogenesis Imperfecta hypomaturation type Amelogenesis Imperfecta ORPHANET_DG 22901946
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Amelogenesis Imperfecta Type III Amelogenesis imperfecta Pubtator 22901946 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA4 Amelogenesis Imperfecta GENOMICS_ENGLAND_DG 22901946
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA4 Amelogenesis Imperfecta CTD_human_DG
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA4 Amelogenesis Imperfecta CLINVAR_DG
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 28230858 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Dental Enamel Hypoplasia Dental Enamel Hypoplasia HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Sort by:
AMELX 4 shared diseasesAmelogenesis imperfecta, Dentin dysplasia, Dentinogenesis imperfecta, Hypomaturation amelogenesis imperfecta 8 shared evidence sourcesDisgenet (Amelogenesis imperfecta), CTD (Amelogenesis imperfecta), GWAS catalog (Amelogenesis imperfecta), ClinVar (Amelogenesis imperfecta), HPO (Amelogenesis imperfecta), Disgenet (Dentin dysplasia), Disgenet (Dentinogenesis imperfecta), Orphanet (Hypomaturation amelogenesis imperfecta) Related via 4 shared diseases including Amelogenesis imperfecta, Dentin dysplasia — evidence mostly Disgenet. KLK4 4 shared diseasesAmelogenesis imperfecta, Dentin dysplasia, Dentinogenesis imperfecta, Hypomaturation amelogenesis imperfecta 8 shared evidence sourcesDisgenet (Amelogenesis imperfecta), CTD (Amelogenesis imperfecta), GWAS catalog (Amelogenesis imperfecta), ClinVar (Amelogenesis imperfecta), HPO (Amelogenesis imperfecta), Disgenet (Dentin dysplasia), Disgenet (Dentinogenesis imperfecta), Orphanet (Hypomaturation amelogenesis imperfecta) Related via 4 shared diseases including Amelogenesis imperfecta, Dentin dysplasia — evidence mostly Disgenet. MMP20 4 shared diseasesAmelogenesis imperfecta, Dentin dysplasia, Dentinogenesis imperfecta, Hypomaturation amelogenesis imperfecta 8 shared evidence sourcesDisgenet (Amelogenesis imperfecta), CTD (Amelogenesis imperfecta), GWAS catalog (Amelogenesis imperfecta), ClinVar (Amelogenesis imperfecta), HPO (Amelogenesis imperfecta), Disgenet (Dentin dysplasia), Disgenet (Dentinogenesis imperfecta), Orphanet (Hypomaturation amelogenesis imperfecta) Related via 4 shared diseases including Amelogenesis imperfecta, Dentin dysplasia — evidence mostly Disgenet. ENAM 3 shared diseasesAmelogenesis imperfecta, Dentin dysplasia, Dentinogenesis imperfecta 7 shared evidence sourcesDisgenet (Amelogenesis imperfecta), CTD (Amelogenesis imperfecta), GWAS catalog (Amelogenesis imperfecta), ClinVar (Amelogenesis imperfecta), HPO (Amelogenesis imperfecta), Disgenet (Dentin dysplasia), Disgenet (Dentinogenesis imperfecta) Related via 3 shared diseases including Amelogenesis imperfecta, Dentin dysplasia — evidence mostly Disgenet. SLC24A4 4 shared diseasesAmelogenesis imperfecta, Dentin dysplasia, Dentinogenesis imperfecta, Hypomaturation amelogenesis imperfecta 8 shared evidence sourcesDisgenet (Amelogenesis imperfecta), CTD (Amelogenesis imperfecta), GWAS catalog (Amelogenesis imperfecta), ClinVar (Amelogenesis imperfecta), HPO (Amelogenesis imperfecta), Disgenet (Dentin dysplasia), Disgenet (Dentinogenesis imperfecta), Orphanet (Hypomaturation amelogenesis imperfecta) Related via 4 shared diseases including Amelogenesis imperfecta, Dentin dysplasia — evidence mostly Disgenet.
Male infertility Linked via 1 of 5 related genesKLK4 Obesity Linked via 1 of 5 related genesKLK4 Intellectual developmental disorder Linked via 1 of 5 related genesMMP20 Neuroblastoma Linked via 1 of 5 related genesMMP20 Prostate cancer Linked via 1 of 5 related genesMMP20