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

Summary

Gene Symbol

ALG2

Aliases

CDG1I
CDGIi
FLJ14511
NET38
hALPG2

Organism

Homo sapiens (human)

External Links

NCBI Gene

85365

GGDB ID

gg143

HGNC

23159

mRNA

NM_033087

map

9q22-31

Protein

NP_149078

OMIM

607905

KEGG Gene ID

hsa:85365

PubChem

85365

Alliance of Genome Resources

HGNC:23159

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

Annotation information from UniProt.

Gene Ontology (GO)

Displaying **all 5** entries
GO Term	Evidence Code	PMID
protein N-linked glycosylation	IDA	35136180
dolichol-linked oligosaccharide biosynthetic process	IDA IGI TAS	12684507 35136180
protein glycosylation	IGI	12684507
oligosaccharide-lipid intermediate biosynthetic process	IBA
response to calcium ion

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

protein glycosylation

protein N-linked glycosylation

biosynthetic process [inference]

organic substance biosynthetic process [inference]

carbohydrate derivative biosynthetic process [inference]

oligosaccharide-lipid intermediate biosynthetic process

dolichol-linked oligosaccharide biosynthetic process

cellular metabolic process [inference]

cellular lipid metabolic process [inference]

oligosaccharide-lipid intermediate biosynthetic process

dolichol-linked oligosaccharide biosynthetic process

isoprenoid metabolic process [inference]

polyprenol metabolic process [inference]

dolichol metabolic process [inference]

dolichol-linked oligosaccharide biosynthetic process

primary metabolic process [inference]

lipid metabolic process [inference]

cellular lipid metabolic process [inference]

oligosaccharide-lipid intermediate biosynthetic process

dolichol-linked oligosaccharide biosynthetic process

isoprenoid metabolic process [inference]

polyprenol metabolic process [inference]

dolichol metabolic process [inference]

dolichol-linked oligosaccharide biosynthetic process

protein metabolic process [inference]

protein modification process [inference]

protein glycosylation

protein N-linked glycosylation

small molecule metabolic process [inference]

alcohol metabolic process [inference]

polyprenol metabolic process [inference]

dolichol metabolic process [inference]

dolichol-linked oligosaccharide biosynthetic process

glycosylation [inference]

macromolecule glycosylation [inference]

protein glycosylation

protein N-linked glycosylation

organic substance metabolic process [inference]

lipid metabolic process [inference]

cellular lipid metabolic process [inference]

oligosaccharide-lipid intermediate biosynthetic process

dolichol-linked oligosaccharide biosynthetic process

isoprenoid metabolic process [inference]

polyprenol metabolic process [inference]

dolichol metabolic process [inference]

dolichol-linked oligosaccharide biosynthetic process

macromolecule metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

protein glycosylation

protein N-linked glycosylation

macromolecule modification [inference]

protein modification process [inference]

protein glycosylation

protein N-linked glycosylation

macromolecule glycosylation [inference]

protein glycosylation

protein N-linked glycosylation

carbohydrate derivative metabolic process [inference]

carbohydrate derivative biosynthetic process [inference]

oligosaccharide-lipid intermediate biosynthetic process

dolichol-linked oligosaccharide biosynthetic process

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

protein glycosylation

protein N-linked glycosylation

organic substance biosynthetic process [inference]

carbohydrate derivative biosynthetic process [inference]

oligosaccharide-lipid intermediate biosynthetic process

dolichol-linked oligosaccharide biosynthetic process

organic hydroxy compound metabolic process [inference]

alcohol metabolic process [inference]

polyprenol metabolic process [inference]

dolichol metabolic process [inference]

dolichol-linked oligosaccharide biosynthetic process

cellular process [inference]

cellular metabolic process [inference]

cellular lipid metabolic process [inference]

oligosaccharide-lipid intermediate biosynthetic process

dolichol-linked oligosaccharide biosynthetic process

isoprenoid metabolic process [inference]

polyprenol metabolic process [inference]

dolichol metabolic process [inference]

dolichol-linked oligosaccharide biosynthetic process

response to stimulus [inference]

response to chemical [inference]

response to organic substance [inference]

response to calcium ion

response to inorganic substance [inference]

response to metal ion [inference]

response to calcium ion

response to oxygen-containing compound [inference]

response to calcium ion

response to salt [inference]

response to calcium ion

Displaying entry **6 - 6** of 6 in total

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GO Term	Evidence Code	PMID
perinuclear region of cytoplasm

GO Hierarchy

cellular component

cellular anatomical entity [inference]

cytoplasm

membrane

organelle membrane [inference]

endoplasmic reticulum membrane

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

nucleus

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

nucleus

perinuclear region of cytoplasm

side of membrane [inference]

cytoplasmic side of membrane [inference]

cytoplasmic side of endoplasmic reticulum membrane

Displaying entry **6 - 6** of 6 in total

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GO Term	Evidence Code	PMID
protein heterodimerization activity

GO Hierarchy

molecular function

catalytic activity [inference]

transferase activity [inference]

glycosyltransferase activity [inference]

hexosyltransferase activity [inference]

mannosyltransferase activity [inference]

alpha-1,3-mannosyltransferase activity

glycolipid mannosyltransferase activity [inference]

GDP-Man:Man1GlcNAc2-PP-Dol alpha-1,3-mannosyltransferase activity

GDP-Man:Man2GlcNAc2-PP-dolichol alpha-1,6-mannosyltransferase activity

binding [inference]

protein binding

protein dimerization activity [inference]

protein heterodimerization activity

calcium-dependent protein binding

Gene Ontology information from NCBI Gene and UniProt.

Human Protein Atlas

ENSG00000119523

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

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

GlycoGene Database (GGDB)

GGDB ID

gg143

Gene Symbol

ALG2

Reactions

Displaying **all 2** entries
Donor	Acceptor	Product	Reference
GDP-Man	G65996GC	G53394BX
GDP-Man	G53394BX	G43547MI

Displaying **all 2** entries
Donor	Acceptor	Product	Reference
GDP-Man	G53394BX	G43547MI
GDP-Man	G65996GC	G53394BX

Orthologous Gene

Displaying **all 6** entries
Species	Protein	mRNA
Arabidopsis thaliana	NP_178001	NM_106527
Saccharomyces cerevisiae	CAA96768	Z72587
Rattus norvegicus	XP_232987	XM_232987
Drosophila melanogaster	NP_647772	NM_139515
Caenorhabditis elegans	NP_495010	NM_062609
Mus musculus	NP_064382	NM_019998

KEGG BRITE Database

Orthology

K03843

Name

alpha-1,3/alpha-1,6-mannosyltransferase [EC:2.4.1.132 2.4.1.257]

References

12684507

Reactions

Displaying **all 2** entries
KEGG Reaction	Enzyme	Acceptor	Product
R06238	2.4.1.257	G53394BX	G43547MI
R05973	2.4.1.132	G65996GC	G53394BX

Rhea

RHEA:29519

GDP-α-D-mannose

H⁺ + GDP

Enzyme

2.4.1.257

PMID

RHEA:29515

GDP-α-D-mannose

H⁺ + GDP

Enzyme

2.4.1.132

PMID

Disease

Disease Ontology

Displaying entries **1 - 10** of 37 in total

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DO ID	Disease Name	Source
DOID:0050570	congenital disorder of glycosylation type I	DisGeNET
DOID:0050571	congenital disorder of glycosylation type II	Glyco-Disease Genes Database
DOID:0060249	scoliosis	DisGeNET
DOID:0060260	ptosis	DisGeNET
DOID:0060261	congenital ptosis	DisGeNET
DOID:0080561	congenital disorder of glycosylation Ii	Glyco-Disease Genes Database DisGeNET Alliance of Genome Resources
DOID:0110669	congenital myasthenic syndrome 14	DisGeNET Alliance of Genome Resources
DOID:0111338	isolated elevated serum creatine phosphokinase levels	DisGeNET
DOID:1029	familial periodic paralysis	DisGeNET
DOID:1059	intellectual disability	DisGeNET

The Human Phenotype Ontology

Displaying entries **51 - 60** of 91 in total

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HPO ID	HPO Term
HP:0003198	Myopathy
HP:0003200	Ragged-red muscle fibers
HP:0003236	Elevated circulating creatine kinase concentration
HP:0003307	Hyperlordosis
HP:0003325	Limb-girdle muscle weakness
HP:0003388	Easy fatigability
HP:0003391	Gowers sign
HP:0003394	Muscle spasm
HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
HP:0003473	Fatigable weakness

Displaying **all 4** entries
Disease ID	Disease Name
OMIM:616228	congenital myasthenic syndrome 14
ORPHA:353327	obsolete congenital myasthenic syndromes with glycosylation defect
OMIM:607906	ALG2-congenital disorder of glycosylation
ORPHA:79326	ALG2-congenital disorder of glycosylation

PubChem Disease

MedGen Diseases

OMIM Phenotypes

KEGG Diseases

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

Ortholog

Displaying entries **1 - 10** of 82 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Caenorhabditis elegans	173912	WB:WBGene00017282
Drosophila melanogaster	38374	FB:FBgn0035401
Ciona intestinalis	100180226		CIOIN15952
Latimeria chalumnae	102353262		LATCH02813
Danio rerio	403068	ZFIN:ZDB-GENE-060502-2	DANRE11106
Astyanax mexicanus	103028771		ASTMX14613
Ictalurus punctatus	108256665		ICTPU18391
Electrophorus electricus	113590840		ELEEL45412
Salmo salar	106574526		SALSA123317
Salmo salar	106606060		SALSA123317

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

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Other Information

Tools

Search Tools

Summary

External Links

Annotation

GlycoGene Database (GGDB)

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements