AMY2A (amylase alpha 2A)

Gene

• Entrez ID: 279
• Gene name: Amylase alpha 2A
• Gene symbol: AMY2A
• Synonyms (NCBI Gene): AMY2, PA
• Chromosome: 1
• Chromosome location: 1p21.1
• Summary: This gene encodes a member of the alpha-amylase family of proteins. Amylases are secreted proteins that hydrolyze 1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides, catalyzing the first step in digestion of dietary starch and glycogen. Thi

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003824	Function	Catalytic activity	IEA
GO:0004556	Function	Alpha-amylase activity	IBA
GO:0004556	Function	Alpha-amylase activity	IDA	10769135
GO:0004556	Function	Alpha-amylase activity	IEA
GO:0004556	Function	Alpha-amylase activity	TAS	6336237
GO:0005509	Function	Calcium ion binding	IDA	10769135
GO:0005509	Function	Calcium ion binding	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	10769135
GO:0005615	Component	Extracellular space	IEA
GO:0005615	Component	Extracellular space	TAS	6336237
GO:0005975	Process	Carbohydrate metabolic process	IBA
GO:0005975	Process	Carbohydrate metabolic process	IEA
GO:0005975	Process	Carbohydrate metabolic process	NAS	2788608
GO:0016052	Process	Carbohydrate catabolic process	IDA	10769135
GO:0016787	Function	Hydrolase activity	IEA
GO:0016798	Function	Hydrolase activity, acting on glycosyl bonds	IEA
GO:0031404	Function	Chloride ion binding	IDA	10769135
GO:0031404	Function	Chloride ion binding	IEA
GO:0043169	Function	Cation binding	IEA
GO:0044245	Process	Polysaccharide digestion	TAS
GO:0046872	Function	Metal ion binding	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145

Other IDs

• MIM: 104650
• HGNC: 477
• e!Ensembl: ENSG00000243480

Protein

• UniProt ID: P04746
• Protein name: Pancreatic alpha-amylase (PA) (EC 3.2.1.1) (1,4-alpha-D-glucan glucanohydrolase)
• PDB: 1B2Y, 1BSI, 1CPU, 1HNY, 1KB3, 1KBB, 1KBK, 1KGU, 1KGW, 1KGX, 1U2Y, 1U30, 1U33, 1XCW, 1XCX, 1XD0, 1XD1, 1XGZ, 1XH0, 1XH1, 1XH2, 2CPU, 2QMK, 2QV4, 3BAI, 3BAJ, 3BAK, 3BAW, 3BAX, 3BAY, 3CPU, 3IJ7, 3IJ8, 3IJ9, 3OLD, 3OLE, 3OLG, 3OLI, 4GQQ, 4GQR, 4W93, 4X9Y, 5E0F, 5EMY, 5KEZ, 5TD4, 5U3A, 5VA9, 6OBX, 6OCN, 6Z8L
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00128	Alpha-amylase	46 → 348	Alpha amylase, catalytic domain	Domain
  PF02806	Alpha-amylase_C	421 → 508	Alpha amylase, C-terminal all-beta domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Detected in pancreas (at protein level). {ECO:0000269|PubMed:8528071}.
• Sequence:

  MKFFLLLFTIGFCWAQYSPNTQQGRTSIVHLFEWRWVDIALECERYLAPKGFGGVQVSPP
  NENVAIYNPFRPWWERYQPVSYKLCTRSGNEDEFRNMVTRCNNVGVRIYVDAVINHMCGN
  AVSAGTSSTCGSYFNPGSRDFPAVPYSGWDFNDGKCKTGSGDIENYNDATQVRDCRLTGL
  LDLALEKDYVRSKIAEYMNHLIDIGVAGFRLDASKHMWPGDIKAILDKLHNLNSNWFPAG
  SKPFIYQEVIDLGGEPIKSSDYFGNGRVTEFKYGAKLGTVIRKWNGEKMSYLKNWGEGWG
  FVPSDRALVFVDNHDNQRGHGAGGASILTFWDARLYKMAVGFMLAHPYGFTRVMSSYRWP
  RQFQNGNDVNDWVGPPNNNGVIKEVTINPDTTCGNDWVCEHRWRQIRNMVIFRNVVDGQP
  FTNWYDNGSNQVAFGRGNRGFIVFNNDDWSFSLTLQTGLPAGTYCDVISGDKINGNCTGI
  KIYVSDDGKAHFSISNSAEDPFIAIHAESKL

• Sequence length: 511

Pathways

KEGG:

Starch and sucrose metabolism
Metabolic pathways
Salivary secretion
Pancreatic secretion
Carbohydrate digestion and absorption

Reactome:

Digestion of dietary carbohydrate

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
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute intermittent porphyria	Intermittent Porphyria	BEFREE	19001184, 19520060		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	26297502	Associate	★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	941905	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	19520060		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	19520060		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	19001184, 19520060		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	21111049, 28743229, 29967287, 31546678		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	28124052, 28170007, 28743229		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	28124052		★☆☆☆☆ Found in Text Mining only
Lafora Disease	Lafora Disease	BEFREE	31329461		★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma	Leiomyosarcoma	Pubtator	22419440	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	7507116	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	7507116		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20428766		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	25788522		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	25788522, 28659346	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	LHGDN	19001184		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	879170	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	20428766		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	38631604	Associate	★☆☆☆☆ Found in Text Mining only