AMELX (amelogenin X-linked)

Gene

• Entrez ID: 265
• Gene name: Amelogenin X-linked
• Gene symbol: AMELX
• Synonyms (NCBI Gene): AI1E, AIH1, ALGN, AMG, AMGL, AMGX
• Chromosome: X
• Chromosome location: Xp22.2
• Summary: This gene encodes a member of the amelogenin family of extracellular matrix proteins. Amelogenins are involved in biomineralization during tooth enamel development. Mutations in this gene cause X-linked amelogenesis imperfecta. Alternative splicing result

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT048030	hsa-miR-148a-3p	CLASH	23622248
MIRT044727	hsa-miR-320a	CLASH	23622248

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001649	Process	Osteoblast differentiation	ISS	1734713
GO:0001837	Process	Epithelial to mesenchymal transition	ISS	1734713
GO:0002062	Process	Chondrocyte differentiation	ISS	1734713
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	18434575
GO:0005576	Component	Extracellular region	IEA
GO:0005604	Component	Basement membrane	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0007155	Process	Cell adhesion	IEA
GO:0007155	Process	Cell adhesion	ISS	1734713
GO:0007165	Process	Signal transduction	TAS	16674683
GO:0007584	Process	Response to nutrient	IEA
GO:0008083	Function	Growth factor activity	IEA
GO:0008083	Function	Growth factor activity	ISS	1734713
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0009986	Component	Cell surface	IEA
GO:0009986	Component	Cell surface	ISS	1734713
GO:0030139	Component	Endocytic vesicle	IEA
GO:0030345	Function	Structural constituent of tooth enamel	IBA
GO:0030345	Function	Structural constituent of tooth enamel	IDA	1734713, 2509010
GO:0030345	Function	Structural constituent of tooth enamel	IEA
GO:0030345	Function	Structural constituent of tooth enamel	IMP	1483698
GO:0031012	Component	Extracellular matrix	IBA
GO:0031012	Component	Extracellular matrix	IDA	2509010
GO:0031214	Process	Biomineral tissue development	IEA
GO:0031214	Process	Biomineral tissue development	TAS	2509010
GO:0031402	Function	Sodium ion binding	IEA
GO:0032967	Process	Positive regulation of collagen biosynthetic process	ISS	1734713
GO:0032991	Component	Protein-containing complex	IEA
GO:0034505	Process	Tooth mineralization	IEA
GO:0034505	Process	Tooth mineralization	IMP	1483698
GO:0034505	Process	Tooth mineralization	ISS	1734713
GO:0042127	Process	Regulation of cell population proliferation	IEA
GO:0042127	Process	Regulation of cell population proliferation	ISS	1734713
GO:0042475	Process	Odontogenesis of dentin-containing tooth	IEA
GO:0042475	Process	Odontogenesis of dentin-containing tooth	ISS	1734713
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	ISS	1734713
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0046848	Function	Hydroxyapatite binding	IEA
GO:0046848	Function	Hydroxyapatite binding	ISS	1734713
GO:0051592	Process	Response to calcium ion	IEA
GO:0070166	Process	Enamel mineralization	IBA
GO:0070166	Process	Enamel mineralization	IEA
GO:0070166	Process	Enamel mineralization	IMP	1916828
GO:0070166	Process	Enamel mineralization	ISS
GO:0070172	Process	Positive regulation of tooth mineralization	TAS	2509010
GO:0097186	Process	Amelogenesis	IEA
GO:0097186	Process	Amelogenesis	ISS
GO:0099080	Component	Supramolecular complex	IEA

Other IDs

• MIM: 300391
• HGNC: 461
• e!Ensembl: ENSG00000125363

Protein

• UniProt ID: Q99217
• Protein name: Amelogenin, X isoform
• Protein function: Plays a role in biomineralization. Seems to regulate the formation of crystallites during the secretory stage of tooth enamel development. Thought to play a major role in the structural organization and mineralization of developing enamel.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02948	Amelogenin	21 → 191		Family

• Sequence:

  MGTWILFACLLGAAFAMPLPPHPGHPGYINFSYEVLTPLKWYQSIRPPYPSYGYEPMGGW
  LHHQIIPVLSQQHPPTHTLQPHHHIPVVPAQQPVIPQQPMMPVPGQHSMTPIQHHQPNLP
  PPAQQPYQPQPVQPQPHQPMQPQPPVHPMQPLPPQPPLPPMFPMQPLPPMLPDLTLEAWP
  STDKTKREEVD

• Sequence length: 191

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	Pathogenic	rs1603038146	RCV000789003
Amelogenesis imperfecta type 1E	Likely pathogenic; Pathogenic	rs2147573600, rs2518744193, rs387906487, rs387906488, rs387906489, rs104894733, rs104894734, rs104894736, rs387906490, rs387906491, rs104894737, rs104894738	RCV001785917 RCV003154644 RCV000011887 RCV000011888 RCV000011889 RCV000011890 RCV000011891 RCV000011892 RCV000011893 RCV000011894 RCV000011895 RCV000011896
AMELX-related disorder	Pathogenic	rs104894736	RCV004757103

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2	not provided	rs431825176, rs431825177, rs431825178	RCV000083240 RCV000083241 RCV000083242

Associations from Text Mining
Disease Name	Relationship Type	References
Amelogenesis Imperfecta	Associate	19530186, 20938048, 21597265, 22243262, 31999931, 35886055, 37985977
Amelogenesis imperfecta hypoplastic hypomaturation X linked 1	Associate	1734713, 19610109, 22243262, 35886055
Amelogenesis imperfecta local hypoplastic form	Associate	37985977
Axenfeld Rieger syndrome	Associate	37895297
Burnett Schwartz Berberian syndrome	Associate	37985977
Carcinoma Renal Cell	Associate	35945780
Cleft Lip	Associate	25166767
Corneal Diseases	Associate	39766903
Dental Caries	Associate	29068589, 36422720
Dental Enamel Hypoplasia	Associate	31999931, 39766903
Developmental Defects of Enamel	Associate	25166767, 28382465
Developmental Disabilities	Associate	39766903
Eye Abnormalities	Associate	37895297
Glaucoma	Associate	39766903
Heart Septal Defects Atrial	Associate	39766903
Schimke immunoosseous dysplasia	Associate	25849153
Tooth Eruption Ectopic	Associate	19419450