AMTN (amelotin)

Download as csv Download as pdf
Log in to bookmark this gene

Bookmark This Gene

Gene Gene information from NCBI Gene database.
Download as csvDownload as pdf
Entrez ID 401138
Gene name Amelotin
Gene symbol AMTN
Synonyms (NCBI Gene)
AI3BUNQ689
Chromosome 4
Chromosome location 4q13.3
Summary 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.
3
Download as csvDownload as pdf
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20 Show/Hide all (20)
Download as csvDownload as pdf
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Download as csvDownload as pdf
MIM HGNC e!Ensembl
610912 33188 ENSG00000187689
Protein Protein information from UniProt database.
Download as csvDownload as pdf
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 
MRSTILLFCLLGSTRSLPQLKPALGLPPTKLAPDQGTLPNQQQSNQVFPSLSLIPLTQML
TLGPDLHLLNPAAGMTPGTQTHPLTLGGLNVQQQLHPHVLPIFVTQLGAQGTILSSEELP
QIFTSLIIHSLFPGGILPTSQAGANPDVQDGSLPAGGAGVNPATQGTPAGRLPTPSGTDD
DFAVTTPAGIQRSTHAIEEATTESANGIQ
Sequence length 209
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Download as csvDownload as pdf
Reactome Pathway
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Post-translational protein phosphorylation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
10
Download as csvDownload as pdf
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)
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 (10)
Phenotype Name Clinical Significance Source Reference Evidence Score
AMELOGENESIS IMPERFECTA TYPE 3B — ClinVar, GWAS catalog 25715379, 26620968, 27412008
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMELOGENESIS IMPERFECTA, TYPE 3A — GWAS catalog 27412008
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMELOGENESIS IMPERFECTA, TYPE III — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMELOGENESIS IMPERFECTA, TYPE IIIA — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMELOGENESIS IMPERFECTA, TYPE IIIB — Disgenet, HPO
Disgenet, HPO 		27412008
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (15)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Amelogenesis Imperfecta Amelogenesis imperfecta BEFREE 27412008, 31074140
★★★★★
★☆☆☆☆
Found in Text Mining only
Amelogenesis Imperfecta Amelogenesis imperfecta GENOMICS_ENGLAND_DG 27412008
★★★★★
★☆☆☆☆
Found in Text Mining only
Amelogenesis Imperfecta Amelogenesis imperfecta HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Amelogenesis Imperfecta hypomaturation type Amelogenesis Imperfecta GENOMICS_ENGLAND_DG 27412008
★★★★★
★☆☆☆☆
Found in Text Mining only
Amelogenesis Imperfecta, Type III Amelogenesis Imperfecta ORPHANET_DG 27412008
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMELOGENESIS IMPERFECTA, TYPE IIIB Amelogenesis Imperfecta GENOMICS_ENGLAND_DG 27412008
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Chronic Periodontitis Periodontitis BEFREE 25500923
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer UNIPROT_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Esophageal Neoplasms Esophageal neoplasm Pubtator 30758105 Inhibit
★★★★★
★☆☆☆☆
Found in Text Mining only
Esophageal Neoplasms Esophageal neoplasm Pubtator 33794814, 34716287 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Sort by:
ENAM 1 shared diseaseAmelogenesis imperfecta 2 shared pathwaysRegulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs), Post-translational protein phosphorylation 4 shared evidence sourcesDisgenet (Amelogenesis imperfecta), GWAS catalog (Amelogenesis imperfecta), ClinVar (Amelogenesis imperfecta), HPO (Amelogenesis imperfecta) Related via 2 shared pathways including Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs), Post-translational protein phosphorylation — evidence mostly Disgenet. AMBN 1 shared diseaseAmelogenesis imperfecta 2 shared pathwaysRegulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs), Post-translational protein phosphorylation 4 shared evidence sourcesDisgenet (Amelogenesis imperfecta), GWAS catalog (Amelogenesis imperfecta), ClinVar (Amelogenesis imperfecta), HPO (Amelogenesis imperfecta) Related via 2 shared pathways including Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs), Post-translational protein phosphorylation — evidence mostly Disgenet. AMELX 1 shared diseaseAmelogenesis imperfecta 2 shared pathwaysRegulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs), Post-translational protein phosphorylation 4 shared evidence sourcesDisgenet (Amelogenesis imperfecta), GWAS catalog (Amelogenesis imperfecta), ClinVar (Amelogenesis imperfecta), HPO (Amelogenesis imperfecta) Related via 2 shared pathways including Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs), Post-translational protein phosphorylation — evidence mostly Disgenet. FAM20A 1 shared diseaseAmelogenesis imperfecta 2 shared pathwaysRegulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs), Post-translational protein phosphorylation 4 shared evidence sourcesDisgenet (Amelogenesis imperfecta), GWAS catalog (Amelogenesis imperfecta), ClinVar (Amelogenesis imperfecta), HPO (Amelogenesis imperfecta) Related via 2 shared pathways including Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs), Post-translational protein phosphorylation — evidence mostly Disgenet. MUC7 2 shared diseasesDiabetic neuropathy, Esophageal squamous cell carcinoma 2 shared evidence sourcesGWAS catalog (Diabetic neuropathy), GWAS catalog (Esophageal squamous cell carcinoma) Related via 2 shared diseases including Diabetic neuropathy, Esophageal squamous cell carcinoma — evidence mostly GWAS catalog.
Dentin dysplasia Linked via 4 of 5 related genesENAM, AMBN, AMELX, FAM20A Dentinogenesis imperfecta Linked via 4 of 5 related genesENAM, AMBN, AMELX, FAM20A Coronary artery disease Linked via 2 of 5 related genesENAM, AMBN Bone fragility with contractures, arterial rupture, and deafness Linked via 1 of 5 related genesAMBN Osteoporosis-pseudoglioma syndrome Linked via 1 of 5 related genesAMBN