AMY2B (amylase alpha 2B)

Gene

• Entrez ID: 280
• Gene name: Amylase alpha 2B
• Gene symbol: AMY2B
• Synonyms (NCBI Gene): AMY2, AMY3, HXA
• Chromosome: 1
• Chromosome location: 1p21.1
• Summary: Amylases are secreted proteins that hydrolyze 1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides, and thus catalyze the first step in digestion of dietary starch and glycogen. The human genome has a cluster of several amylase genes that are

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	IEA
GO:0004556	Function	Alpha-amylase activity	ISS	2401405
GO:0005509	Function	Calcium ion binding	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IEA
GO:0005975	Process	Carbohydrate metabolic process	IBA
GO:0005975	Process	Carbohydrate metabolic process	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016798	Function	Hydrolase activity, acting on glycosyl bonds	IEA
GO:0031404	Function	Chloride ion binding	IEA
GO:0043169	Function	Cation binding	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145

Other IDs

• MIM: 104660
• HGNC: 478
• e!Ensembl: ENSG00000240038

Protein

• UniProt ID: P19961
• Protein name: Alpha-amylase 2B (EC 3.2.1.1) (1,4-alpha-D-glucan glucanohydrolase 2B) (Carcinoid alpha-amylase)
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00128	Alpha-amylase	52 → 348	Alpha amylase, catalytic domain	Domain
  PF02806	Alpha-amylase_C	421 → 508	Alpha amylase, C-terminal all-beta domain	Domain

• Sequence:

  MKFFLLLFTIGFCWAQYSPNTQQGRTSIVHLFEWRWVDIALECERYLAPKGFGGVQVSPP
  NENVAIHNPFRPWWERYQPVSYKLCTRSGNEDEFRNMVTRCNNVGVRIYVDAVINHMSGN
  AVSAGTSSTCGSYFNPGSRDFPAVPYSGWDFNDGKCKTGSGDIENYNDATQVRDCRLVGL
  LDLALEKDYVRSKIAEYMNHLIDIGVAGFRLDASKHMWPGDIKAILDKLHNLNSNWFPAG
  SKPFIYQEVIDLGGEPIKSSDYFGNGRVTEFKYGAKLGTVIRKWNGEKMSYLKNWGEGWG
  FMPSDRALVFVDNHDNQRGHGAGGASILTFWDARLYKMAVGFMLAHPYGFTRVMSSYRWP
  RQFQNGNDVNDWVGPPNNNGVIKEVTINPDTTCGNDWVCEHRWRQIRNMVNFRNVVDGQP
  FTNWYDNGSNQVAFGRGNRGFIVFNNDDWTFSLTLQTGLPAGTYCDVISGDKINGNCTGI
  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	Relationship Type	References	Evidence Score
Carcinoma Hepatocellular	Associate	36894454	★☆☆☆☆ Found in Text Mining only
Neoplasm Invasiveness	Associate	36894454	★☆☆☆☆ Found in Text Mining only