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

2009-06-01  

Identity

HGNC
LOCATION
9q22.33
LOCUSID
ALIAS
CDG1I,CDGIi,CMS14,CMSTA3,NET38,hALPG2
FUSION GENES

Other Information

Locus ID:

NCBI: 85365
MIM: 607905
HGNC: 23159
Ensembl: ENSG00000119523

Variants:

dbSNP: 85365
ClinVar: 85365
TCGA: ENSG00000119523
COSMIC: ALG2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000119523ENST00000238477A0A0A0MTE0
ENSG00000119523ENST00000319033Q9H553
ENSG00000119523ENST00000476832Q9H553
ENSG00000119523ENST00000476832A0A024R184

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50

Pathways

PathwaySourceExternal ID
N-Glycan biosynthesisKEGGko00510
N-Glycan biosynthesisKEGGhsa00510
Metabolic pathwaysKEGGhsa01100
N-glycan precursor biosynthesisKEGGhsa_M00055
N-glycan precursor biosynthesisKEGGM00055
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Asparagine N-linked glycosylationREACTOMER-HSA-446203
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent proteinREACTOMER-HSA-446193

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
234043342013Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.33
149990172004The penta-EF-hand protein ALG-2 interacts with a region containing PxY repeats in Alix/AIP1, which is required for the subcellular punctate distribution of the amino-terminal truncation form of Alix/AIP1.23
160046032005The penta-EF-hand protein ALG-2 interacts directly with the ESCRT-I component TSG101, and Ca2+-dependently co-localizes to aberrant endosomes with dominant-negative AAA ATPase SKD1/Vps4B.20

Citation

Dessen P

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

Atlas Genet Cytogenet Oncol Haematol. 2009-06-01

Online version: http://atlasgeneticsoncology.org/gene/50934/alg2