AMY2A (amylase alpha 2A)

2010-08-01  

Identity

HGNC
AMY2A
LOCATION
1p21.1
LOCUSID
279
ALIAS
AMY2,PA

Other Information

Locus ID:

NCBI: 279
MIM: 104650
HGNC: 477
Ensembl: ENSG00000243480

Variants:

dbSNP: 279
ClinVar: 279
TCGA: ENSG00000243480
COSMIC: AMY2A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000243480ENST00000414303P04746
ENSG00000243480ENST00000423678H7BZQ8
ENSG00000243480ENST00000622339P04746

Expression (GTEx)

0
500
1000
1500
2000
2500
3000
3500
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Starch and sucrose metabolismKEGGko00500
Starch and sucrose metabolismKEGGhsa00500
Metabolic pathwaysKEGGhsa01100
Pancreatic secretionKEGGko04972
Pancreatic secretionKEGGhsa04972
Carbohydrate digestion and absorptionKEGGko04973
Carbohydrate digestion and absorptionKEGGhsa04973
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Digestion of dietary carbohydrateREACTOMER-HSA-189085

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
190011842009Amylase alpha-2A autoantibodies: novel marker of autoimmune pancreatitis and fulminant type 1 diabetes.20
153045112004In situ extension as an approach for identifying novel alpha-amylase inhibitors.5
204287662010AMY2A: a possible tumor-suppressor gene of 1p21.1 loss in gastric carcinoma.5
213663352011Chloride regulation of enzyme turnover: application to the role of chloride in photosystem II.5
225845802012Functional regulation of sugar assimilation by N-glycan-specific interaction of pancreatic α-amylase with glycoproteins of duodenal brush border membrane.5
263350112015Role of Amylase-α2A Autoantibodies in the Diagnosis of Autoimmune Pancreatitis.3
286593462017Starch Digestion-Related Amylase Genetic Variant Affects 2-Year Changes in Adiposity in Response to Weight-Loss Diets: The POUNDS Lost Trial.2
155711032004Population genetic studies of the pancreatic amylase (AMY2, E.C. 3.2.1.1) in Bulgaria.0
156488512004Phenotype and allele frequencies of some serum protein polymorphisms in populations of the Balkans.0
161527702005On the genetic polymorphism of the serum alpha-amylase in the population of the south western Bulgaria (second communication).0

Citation

Dessen P

AMY2A (amylase alpha 2A)

Atlas Genet Cytogenet Oncol Haematol. 2010-08-01

Online version: http://atlasgeneticsoncology.org/gene/51645/amy2a