AMY2B (amylase alpha 2B)

2014-11-01  

Identity

HGNC
AMY2B
LOCATION
1p21.1
LOCUSID
280
ALIAS
AMY2,AMY3,HXA
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 280
MIM: 104660
HGNC: 478
Ensembl: ENSG00000240038

Variants:

dbSNP: 280
ClinVar: 280
TCGA: ENSG00000240038
COSMIC: AMY2B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000240038ENST00000361355P19961
ENSG00000240038ENST00000435302C9J2Z5
ENSG00000240038ENST00000453959C9JWK7
ENSG00000240038ENST00000477657P19961
ENSG00000240038ENST00000610648P19961

Expression (GTEx)

0
100
200
300
400
500
600
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
314782422020α-Amylase expressed in human small intestinal epithelial cells is essential for cell proliferation and differentiation.10
314782422020α-Amylase expressed in human small intestinal epithelial cells is essential for cell proliferation and differentiation.10
309384722019Serum amylase activity altered by the ABO blood group system in Chinese subjects.2
309384722019Serum amylase activity altered by the ABO blood group system in Chinese subjects.2
286593462017Starch Digestion-Related Amylase Genetic Variant Affects 2-Year Changes in Adiposity in Response to Weight-Loss Diets: The POUNDS Lost Trial.13
286593462017Starch Digestion-Related Amylase Genetic Variant Affects 2-Year Changes in Adiposity in Response to Weight-Loss Diets: The POUNDS Lost Trial.13
161527702005On the genetic polymorphism of the serum alpha-amylase in the population of the south western Bulgaria (second communication).0
161527702005On the genetic polymorphism of the serum alpha-amylase in the population of the south western Bulgaria (second communication).0

Citation

Dessen P

AMY2B (amylase alpha 2B)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60283/case-report-explorer/js/lib/favicon/favicon-16x16.png