ODAPH (odontogenesis associated phosphoprotein)

Gene

• Entrez ID: 152816
• Gene name: Odontogenesis associated phosphoprotein
• Gene symbol: ODAPH
• Synonyms (NCBI Gene): AI2A4, C4orf26
• 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 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)

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

• MIM: 614829
• HGNC: 26300
• e!Ensembl: ENSG00000174792

Protein

• UniProt ID: 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

Associated diseases

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
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
Phenotype Name	Clinical Significance	Source	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	★★☆☆☆ 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
DENTINOGENESIS IMPERFECTA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOMATURATION AMELOGENESIS IMPERFECTA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
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
Hypomaturation amelogenesis imperfecta	Hypomaturation Amelogenesis Imperfecta	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypomineralization of enamel of tooth	Hypomineralization Of Enamel Of Tooth	HPO_DG			★☆☆☆☆ Found in Text Mining only