ODAPH (odontogenesis associated phosphoprotein)

Gene
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
152816
Gene name Gene Name - the full gene name approved by the HGNC.
Odontogenesis associated phosphoprotein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ODAPH
Synonyms (NCBI Gene) Gene synonyms aliases
AI2A4, C4orf26
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q21.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
614829 26300 ENSG00000174792
Protein
Gene SNPs Gene ontology Other IDs Protein Associated diseases
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
Sequence length 130
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Amelogenesis imperfecta Amelogenesis imperfecta hypomaturation type 2A4 rs866941536, rs1560562738, rs1560562630, rs146645381, rs1560558455 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Diabetes Type 2 diabetes N/A N/A GWAS
Show/Hide Text Mining Associations (3)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Amelogenesis Imperfecta Associate 22901946
Amelogenesis Imperfecta Type III Associate 22901946
Carcinoma Hepatocellular Associate 28230858