ALG12 (ALG12 alpha-1,6-mannosyltransferase)

2014-11-01  

Identity

HGNC
LOCATION
22q13.33
LOCUSID
ALIAS
CDG1G,ECM39,PP14673,hALG12
FUSION GENES

Other Information

Locus ID:

NCBI: 79087
MIM: 607144
HGNC: 19358
Ensembl: ENSG00000182858

Variants:

dbSNP: 79087
ClinVar: 79087
TCGA: ENSG00000182858
COSMIC: ALG12

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000182858ENST00000330817Q9BV10
ENSG00000182858ENST00000330817A0A024R4V6
ENSG00000182858ENST00000486602H7C5R7
ENSG00000182858ENST00000492791H7C4I6

Expression (GTEx)

0
5
10
15
20
25

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
119837122002Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase.14
120933612002Deficiency of dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type Ig.8
315293502019ALG12-CDG: novel glycophenotype insights endorse the molecular defect.0

Citation

Dessen P

ALG12 (ALG12 alpha-1,6-mannosyltransferase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60249/alg12-(alg12-alpha-1-6-mannosyltransferase)