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

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Amelogenesis imperfecta type 1F	Pathogenic; Likely pathogenic	rs2545315463, rs2545307219, rs146238585	RCV003389271 RCV003389272 RCV000412617

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
AMBN-related disorder	Benign; Likely benign	rs35266919, rs7680880, rs376440889, rs374742197, rs7439186, rs141384720, rs145763811, rs189846864, rs76503327, rs146167261, rs113506649, rs116601725	RCV003974431 RCV003974445 RCV003964083 RCV003954515 RCV003979098 RCV003979253 RCV003971698 RCV003970696 RCV003915905 RCV004758128 RCV003916051 RCV003958337
Familial cancer of breast	Likely benign	rs146167261	RCV005910565
Lung cancer	Likely benign	rs146167261	RCV005910566
Malignant lymphoma, large B-cell, diffuse	Benign	rs35266919	RCV005937144

Associations from Text Mining
Disease Name	Relationship Type	References
Amelogenesis Imperfecta	Associate	19530186, 22243262, 30174330
Calcifying Epithelial Odontogenic Tumor	Associate	19661317, 24118390
Dental Caries	Associate	24203249, 25373699, 29068589, 32567944
Dentin Dysplasia	Associate	30174330
Dentinogenesis Imperfecta	Associate	30174330
Developmental Defects of Enamel	Associate	28382465
Fibromatosis Gingival	Associate	28937892
Gingivitis	Associate	28937892
Neoplasms	Associate	24118390
Prostatic Neoplasms	Associate	30286759
Status Asthmaticus	Associate	24203249
Tooth Eruption Ectopic	Associate	19419450