AGL (amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase)

2016-08-01  

Identity

HGNC
AGL
LOCATION
1p21.2
LOCUSID
178
ALIAS
GDE

Other Information

Locus ID:

NCBI: 178
MIM: 610860
HGNC: 321
Ensembl: ENSG00000162688

Variants:

dbSNP: 178
ClinVar: 178
TCGA: ENSG00000162688
COSMIC: AGL

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000162688ENST00000294724P35573
ENSG00000162688ENST00000294724A0A0S2A4E4
ENSG00000162688ENST00000361302A0A1C7CYW1
ENSG00000162688ENST00000361915P35573
ENSG00000162688ENST00000361915A0A0S2A4E4
ENSG00000162688ENST00000370161P35573
ENSG00000162688ENST00000370163P35573
ENSG00000162688ENST00000370163A0A0S2A4E4
ENSG00000162688ENST00000370165P35573
ENSG00000162688ENST00000370165A0A0S2A4E4

Expression (GTEx)

0
10
20
30
40
50
60
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
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Glucose metabolismREACTOMER-HSA-70326
Glycogen breakdown (glycogenolysis)REACTOMER-HSA-70221
Neutrophil degranulationREACTOMER-HSA-6798695

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
322220312020Spectrum of amyloglucosidase mutations in Asian Indian patients with Glycogen storage disease type III.5
322220312020Spectrum of amyloglucosidase mutations in Asian Indian patients with Glycogen storage disease type III.5
310286542019Intron retention is among six unreported AGL mutations identified in Malaysian GSD III patients.1
310286542019Intron retention is among six unreported AGL mutations identified in Malaysian GSD III patients.1
297945752018Distinct Clinical and Genetic Findings in Iranian Patients With Glycogen Storage Disease Type 3.5
297945752018Distinct Clinical and Genetic Findings in Iranian Patients With Glycogen Storage Disease Type 3.5
264903122016Loss of Glycogen Debranching Enzyme AGL Drives Bladder Tumor Growth via Induction of Hyaluronic Acid Synthesis.19
269750212016Metabolic phenotype of bladder cancer.132
269845622016Spectrum of AGL mutations in Chinese patients with glycogen storage disease type III: identification of 31 novel mutations.10
264903122016Loss of Glycogen Debranching Enzyme AGL Drives Bladder Tumor Growth via Induction of Hyaluronic Acid Synthesis.19
269750212016Metabolic phenotype of bladder cancer.132
269845622016Spectrum of AGL mutations in Chinese patients with glycogen storage disease type III: identification of 31 novel mutations.10
254519502015Molecular and clinical delineation of 12 patients with glycogen storage disease type III in Western Turkey.1
256020082015A founder AGL mutation causing glycogen storage disease type IIIa in Inuit identified through whole-exome sequencing: a case series.9
262520942015[Analysis of clinical features and AGL gene mutations in a family with glycogen storage disease type IIIa].1

Citation

Dessen P

AGL (amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase)

Atlas Genet Cytogenet Oncol Haematol. 2016-08-01

Online version: http://atlasgeneticsoncology.org/gene/55879/case-report-explorer/gene-fusions-explorer/favicon/favicon-16x16.png