AMBN (ameloblastin)

Gene

• Entrez ID: 258
• Gene name: Ameloblastin
• Gene symbol: AMBN
• Synonyms (NCBI Gene): AI1F
• Chromosome: 4
• Chromosome location: 4q13.3
• Summary: This gene encodes the nonamelogenin enamel matrix protein ameloblastin. The encoded protein may be important in enamel matrix formation and mineralization. This gene is located in the calcium-binding phosphoprotein gene cluster on chromosome 4. Mutations

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs146238585	G>A,C	Pathogenic	Splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT779527	hsa-miR-4318	CLIP-seq
MIRT779528	hsa-miR-4766-3p	CLIP-seq
MIRT779529	hsa-miR-548m	CLIP-seq
MIRT779530	hsa-miR-548p	CLIP-seq
MIRT1920245	hsa-miR-298	CLIP-seq
MIRT1920246	hsa-miR-3154	CLIP-seq
MIRT1920247	hsa-miR-3158-5p	CLIP-seq
MIRT1920248	hsa-miR-595	CLIP-seq
MIRT1920245	hsa-miR-298	CLIP-seq
MIRT1920246	hsa-miR-3154	CLIP-seq
MIRT1920247	hsa-miR-3158-5p	CLIP-seq
MIRT1920248	hsa-miR-595	CLIP-seq
MIRT1920245	hsa-miR-298	CLIP-seq
MIRT1920246	hsa-miR-3154	CLIP-seq
MIRT1920247	hsa-miR-3158-5p	CLIP-seq
MIRT1920248	hsa-miR-595	CLIP-seq
MIRT1920245	hsa-miR-298	CLIP-seq
MIRT1920246	hsa-miR-3154	CLIP-seq
MIRT1920247	hsa-miR-3158-5p	CLIP-seq
MIRT1920248	hsa-miR-595	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25789606, 32296183, 32814053
GO:0005576	Component	Extracellular region	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0007155	Process	Cell adhesion	IBA
GO:0007155	Process	Cell adhesion	ISS
GO:0007165	Process	Signal transduction	IEA
GO:0008083	Function	Growth factor activity	IBA
GO:0008083	Function	Growth factor activity	ISS
GO:0030345	Function	Structural constituent of tooth enamel	IEA
GO:0031214	Process	Biomineral tissue development	IEA
GO:0042127	Process	Regulation of cell population proliferation	ISS
GO:0042475	Process	Odontogenesis of dentin-containing tooth	IEA

Other IDs

• MIM: 601259
• HGNC: 452
• e!Ensembl: ENSG00000178522

Protein

• UniProt ID: Q9NP70
• Protein name: Ameloblastin
• Protein function: Involved in the mineralization and structural organization of enamel.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF05111	Amelin	5 → 447	Ameloblastin precursor (Amelin)	Family

• Tissue specificity: TISSUE SPECIFICITY: Ameloblast-specific. Located at the Tomes processes of secretory ameloblasts and in the sheath space between rod-interrod enamel.
• Sequence:

  MSASKIPLFKMKDLILILCLLEMSFAVPFFPQQSGTPGMASLSLETMRQLGSLQRLNTLS
  QYSRYGFGKSFNSLWMHGLLPPHSSLPWMRPREHETQQYEYSLPVHPPPLPSQPSLKPQQ
  PGLKPFLQSAAATTNQATALKEALQPPIHLGHLPLQEGELPLVQQQVAPSDKPPKPELPG
  VDFADPQGPSLPGMDFPDPQGPSLPGLDFADPQGSTIFQIARLISHGPMPQNKQSPLYPG
  MLYVPFGANQLNAPARLGIMSSEEVAGGREDPMAYGAMFPGFGGMRPGFEGMPHNPAMGG
  DFTLEFDSPVAATKGPENEEGGAQGSPMPEANPDNLENPAFLTELEPAPHAGLLALPKDD
  IPGLPRSPSGKMKGLPSVTPAAADPLMTPELADVYRTYDADMTTSVDFQEEATMDTTMAP
  NSLQTSMPGNKAQEPEMMHDAWHFQEP

• Sequence length: 447

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Amelogenesis imperfecta type 1F	Pathogenic; Likely pathogenic	rs2545315463, rs2545307219, rs146238585	RCV003389271 RCV003389272 RCV000412617	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AMBN-related disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMELOGENESIS IMPERFECTA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMELOGENESIS IMPERFECTA LOCAL HYPOPLASTIC FORM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMELOGENESIS IMPERFECTA TYPE 1	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMELOGENESIS IMPERFECTA, TYPE IF	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTIN DYSPLASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTINOGENESIS IMPERFECTA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Ameloblastoma	Ameloblastoma	BEFREE	11054529, 15288841, 19648121, 29974993		★☆☆☆☆ Found in Text Mining only
Amelogenesis Imperfecta	Amelogenesis imperfecta	BEFREE	10618637, 10831092, 10946765, 11330937, 22243262, 24858907, 26223266, 26426912, 30174330, 31402633, 9126491		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amelogenesis Imperfecta	Amelogenesis imperfecta	Pubtator	19530186, 22243262, 30174330	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amelogenesis Imperfecta	Amelogenesis imperfecta	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amelogenesis imperfecta local hypoplastic form	Amelogenesis Imperfecta	BEFREE	11330937, 31402633		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amelogenesis imperfecta local hypoplastic form	Amelogenesis Imperfecta	ORPHANET_DG	24858907		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amelogenesis Imperfecta, Type IB	Amelogenesis Imperfecta	BEFREE	11330937		★☆☆☆☆ Found in Text Mining only
AMELOGENESIS IMPERFECTA, TYPE IF	Amelogenesis imperfecta	GENOMICS_ENGLAND_DG	26502894		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMELOGENESIS IMPERFECTA, TYPE IF	Amelogenesis imperfecta	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMELOGENESIS IMPERFECTA, TYPE IF	Amelogenesis imperfecta	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dental Caries	Dental caries	Pubtator	24203249, 25373699, 29068589, 32567944	Associate	★☆☆☆☆ Found in Text Mining only
Dental Enamel Hypoplasia	Dental Enamel Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dentin Dysplasia	Dentin dysplasia	Pubtator	30174330	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dentinogenesis Imperfecta	Dentinogenesis imperfecta	Pubtator	30174330	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gingivitis	Gingival diseases	Pubtator	28937892	Associate	★☆☆☆☆ Found in Text Mining only
Hypoplastic amelogenesis imperfecta	Hypoplastic Amelogenesis Imperfecta	Orphanet			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28054649		★☆☆☆☆ Found in Text Mining only
Odontogenic Tumors	Odontogenic Tumor	BEFREE	15288841, 19648121, 19661317		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	21149578, 28054649		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	30286759	Associate	★☆☆☆☆ Found in Text Mining only