ODAPH (odontogenesis associated phosphoprotein)

Gene Gene information from NCBI Gene database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
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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Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all (5)
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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Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all (5)
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.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
614829 26300 ENSG00000174792
Protein Protein information from UniProt database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
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
Sequence length 130
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Amelogenesis imperfecta hypomaturation type 2A4 Pathogenic; Likely pathogenic rs866941536, rs1560562738, rs1560562630, rs146645381, rs1560558455 RCV000030791
RCV000030792
RCV000030793
RCV000030794
RCV000030795
ODAPH-related disorder Likely pathogenic rs146645381, rs1560558455 RCV003407374
RCV003407375
Show/Hide Text Mining Associations (3)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Amelogenesis Imperfecta Associate 22901946
Amelogenesis Imperfecta Type III Associate 22901946
Carcinoma Hepatocellular Associate 28230858