AMELY (amelogenin Y-linked)

Gene

• Entrez ID: 266
• Gene name: Amelogenin Y-linked
• Gene symbol: AMELY
• Synonyms (NCBI Gene): AMGL, AMGY
• Chromosome: Y
• Chromosome location: Yp11.2
• 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 a related gene on chromosome X cause X-linked amelogenesis imperfecta. [provi

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017665	hsa-miR-335-5p	Microarray	18185580
MIRT779735	hsa-miR-125a-5p	CLIP-seq
MIRT779736	hsa-miR-125b	CLIP-seq
MIRT779737	hsa-miR-4319	CLIP-seq
MIRT779738	hsa-miR-4732-3p	CLIP-seq
MIRT779739	hsa-miR-4766-5p	CLIP-seq
MIRT779740	hsa-miR-581	CLIP-seq
MIRT779741	hsa-miR-592	CLIP-seq
MIRT779742	hsa-miR-597	CLIP-seq
MIRT779743	hsa-miR-599	CLIP-seq
MIRT779744	hsa-miR-670	CLIP-seq
MIRT1930104	hsa-miR-1263	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005576	Component	Extracellular region	IEA
GO:0030345	Function	Structural constituent of tooth enamel	IBA
GO:0030345	Function	Structural constituent of tooth enamel	IDA	1734713
GO:0031012	Component	Extracellular matrix	IBA
GO:0031012	Component	Extracellular matrix	IC	1734713
GO:0031214	Process	Biomineral tissue development	IEA
GO:0070166	Process	Enamel mineralization	IBA

Other IDs

• MIM: 410000
• HGNC: 462
• e!Ensembl: ENSG00000099721

Protein

• UniProt ID: Q99218
• Protein name: Amelogenin, Y 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 → 206		Family

• Sequence:

  MGTWILFACLVGAAFAMPLPPHPGHPGYINFSYENSHSQAINVDRIALVLTPLKWYQSMI
  RPPYSSYGYEPMGGWLHHQIIPVVSQQHPLTHTLQSHHHIPVVPAQQPRVRQQALMPVPG
  QQSMTPTQHHQPNLPLPAQQPFQPQPVQPQPHQPMQPQPPVQPMQPLLPQPPLPPMFPLR
  PLPPILPDLHLEAWPATDKTKQEEVD

• Sequence length: 206

Associated diseases

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Male infertility	Uncertain significance	rs760519968	RCV001283736

Associations from Text Mining
Disease Name	Relationship Type	References
46 XX Testicular Disorders of Sex Development	Associate	39380113
Amelogenesis Imperfecta	Associate	33903958
Carcinoma Hepatocellular	Associate	20532728
Congenital Abnormalities	Associate	17591941
Hypogonadism	Associate	33574797
Infertility Male	Associate	33574797
Liver Cirrhosis	Associate	20532728
Neoplasms	Associate	20532728