ALG2 alpha-1,3/1,6-mannosyltransferase

Summary
Gene Symbol
  • ALG2
Aliases
  • CDG1I
  • CDGIi
  • FLJ14511
  • NET38
  • hALPG2
Organism
Homo sapiens (human)
NCBI Gene
85365
GGDB ID
HGNC
23159
mRNA
map
  • 9q22-31
Protein
OMIM
KEGG Gene ID
hsa:85365
PubChem
85365
Alliance of Genome Resources
Annotation
Keyword
  • Alternative splicing
  • Congenital disorder of glycosylation
  • Congenital myasthenic syndrome
  • Disease variant
  • Endoplasmic reticulum
  • Glycosyltransferase
  • Reference proteome
  • Transmembrane helix
Proteins
Displaying 1 entry
UniProt Protein Name
Q9H553
  • Asparagine-linked glycosylation protein 2 homolog
  • GDP-Man:Man(1)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase
  • GDP-Man:Man(1)GlcNAc(2)-PP-dolichol mannosyltransferase
  • GDP-Man:Man(2)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase
Gene Ontology (GO)
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
alpha-
Functional Category
  • C: Energy production and conversion
  • E: Amino acid transport and metabolism
  • T: Signal transduction mechanisms
Human Protein Atlas
ENSG00000119523

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

GlycoGene Database (GGDB)
GGDB ID
gg143
Gene Symbol
  • ALG2
Reactions
Displaying all 2 entries
Donor Acceptor Reducing terminal(Acceptor) Product Reducing terminal(Product) Reference
GDP-Man
G65996GC
G53394BX
GDP-Man
G53394BX
G43547MI
Displaying all 2 entries
Donor Acceptor Reducing terminal(Acceptor) Product Reducing terminal(Product) Reference
GDP-Man
G65996GC
G53394BX
GDP-Man
G53394BX
G43547MI
Orthologous Gene
KEGG BRITE Database
Orthology
K03843
Name
alpha-1,3/alpha-1,6-mannosyltransferase [EC:2.4.1.132 2.4.1.257]
References
Reactions
Displaying all 2 entries
KEGG Reaction Enzyme Acceptor Product
R05973
R06238
Disease
Disease Ontology
Displaying all 3 entries
DO ID Disease Name Source
DOID:0050571 congenital disorder of glycosylation type II
DOID:0080561 congenital disorder of glycosylation Ii
DOID:0110669 congenital myasthenic syndrome 14
The Human Phenotype Ontology
Displaying entries 31 - 40 of 91 in total
HPO ID HPO Term
HP:0001763 Pes planus
HP:0001891 Iron deficiency anemia
HP:0001928 Abnormality of coagulation
HP:0001929 Reduced factor XI activity
HP:0001999 Abnormal facial shape
HP:0002014 Diarrhea
HP:0002020 Gastroesophageal reflux
HP:0002079 Hypoplasia of the corpus callosum
HP:0002119 Ventriculomegaly
HP:0002188 Delayed CNS myelination
Displaying all 4 entries
Disease ID Disease Name
ORPHA:353327
  • obsolete congenital myasthenic syndromes with glycosylation defect
OMIM:616228
  • congenital myasthenic syndrome 14
OMIM:607906
  • ALG2-congenital disorder of glycosylation
ORPHA:79326
  • ALG2-congenital disorder of glycosylation

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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024