AMTN (amelotin)

Gene

• Entrez ID: 401138
• Gene name: Amelotin
• Gene symbol: AMTN
• Synonyms (NCBI Gene): AI3B, UNQ689
• 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

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)

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
GO:0005604	Component	Basement membrane	ISS	16787391
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005911	Component	Cell-cell junction	IBA
GO:0005911	Component	Cell-cell junction	IEA
GO:0005911	Component	Cell-cell junction	ISS	16787391
GO:0007155	Process	Cell adhesion	IEA
GO:0031012	Component	Extracellular matrix	IEA
GO:0031012	Component	Extracellular matrix	ISS	16304441, 16787391
GO:0031214	Process	Biomineral tissue development	IEA
GO:0042475	Process	Odontogenesis of dentin-containing tooth	IBA
GO:0042475	Process	Odontogenesis of dentin-containing tooth	IEA
GO:0042475	Process	Odontogenesis of dentin-containing tooth	ISS	16304441
GO:0070169	Process	Positive regulation of biomineral tissue development	IDA	25407797
GO:0070175	Process	Positive regulation of enamel mineralization	IBA
GO:0070175	Process	Positive regulation of enamel mineralization	IEA

Other IDs

• MIM: 610912
• HGNC: 33188
• e!Ensembl: ENSG00000187689

Protein

• 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:

  MRSTILLFCLLGSTRSLPQLKPALGLPPTKLAPDQGTLPNQQQSNQVFPSLSLIPLTQML
  TLGPDLHLLNPAAGMTPGTQTHPLTLGGLNVQQQLHPHVLPIFVTQLGAQGTILSSEELP
  QIFTSLIIHSLFPGGILPTSQAGANPDVQDGSLPAGGAGVNPATQGTPAGRLPTPSGTDD
  DFAVTTPAGIQRSTHAIEEATTESANGIQ

• Sequence length: 209

Pathways

Reactome:

Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Post-translational protein phosphorylation

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AMELOGENESIS IMPERFECTA TYPE 3B	—	ClinVar, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMELOGENESIS IMPERFECTA, TYPE 3A	—	GWAS catalog	★★☆☆☆ 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	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMTN-related disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	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	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
Gingivitis	Gingivitis	BEFREE	25158173		★☆☆☆☆ Found in Text Mining only
Hypocalcified amelogenesis imperfecta	Hypocalcified Amelogenesis Imperfecta	Orphanet			★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	32160961	Associate	★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	39325754	Stimulate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	31788115		★☆☆☆☆ Found in Text Mining only