AMTN (amelotin)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
401138
Gene name Gene Name - the full gene name approved by the HGNC.
Amelotin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
AMTN
Synonyms (NCBI Gene) Gene synonyms aliases
AI3B, UNQ689
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q13.3
Summary Summary of gene provided in NCBI Entrez Gene.
The mineralized portions of teeth, the dentin and enamel, are formed by mesenchyme-derived odontoblasts and epithelium-derived ameloblasts, respectively. As ameloblasts differentiate, they deposit specific proteins necessary for enamel formation, includin
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(3)
miRTarBase ID miRNA Experiments Reference
MIRT1930448 hsa-miR-23a CLIP-seq
MIRT1930449 hsa-miR-23b CLIP-seq
MIRT1930450 hsa-miR-23c CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(20)
GO ID Ontology Definition Evidence Reference
GO:0003674 Function Molecular_function ND
GO:0005515 Function Protein binding IPI 25789606, 32296183
GO:0005576 Component Extracellular region IEA
GO:0005604 Component Basement membrane IBA
GO:0005604 Component Basement membrane IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
610912 33188 ENSG00000187689
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q6UX39
Protein name Amelotin
Protein function Is a promoter of calcium phosphate mineralization, playing a critical role in the formation of the compact, mineralized, aprismatic enamel surface layer during the maturation stage of amelogenesis.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15757 Amelotin 17 → 207 Amelotin Family
Sequence
Sequence length 209
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Post-translational protein phosphorylation
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (2)
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
Amelogenesis imperfecta amelogenesis imperfecta, type 3A, amelogenesis imperfecta type 3B N/A N/A GenCC
Uterine Fibroids Uterine fibroids N/A N/A GWAS
Show/Hide Text Mining Associations (5)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Esophageal Neoplasms Inhibit 30758105
Esophageal Neoplasms Associate 33794814, 34716287
Geographic Atrophy Associate 32160961, 39325754
Macular Degeneration Associate 32160961
Macular Degeneration Stimulate 39325754