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

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
AUTISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Male infertility	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
OVARIAN CYSTS	—	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	15979380		★☆☆☆☆ Found in Text Mining only
Amelogenesis Imperfecta	Amelogenesis imperfecta	Pubtator	33903958	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	20532728	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	17591941	Associate	★☆☆☆☆ Found in Text Mining only
Corpus Luteum Cyst	Corpus Luteum Cyst	CTD_human_DG	21239663		★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	Pubtator	33574797	Associate	★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	33574797	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	20532728		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	20532728	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15979380, 9727193		★☆☆☆☆ Found in Text Mining only
Ovarian Cysts	Ovarian Cysts	CTD_human_DG	21239663		★★☆☆☆ Found in Text Mining + Unknown/Other Associations