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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 4** entries
GO Term	Evidence Code	PMID
oligosaccharide-lipid intermediate biosynthetic process
protein glycosylation	IGI	12684507
protein N-linked glycosylation	IDA	35136180
dolichol-linked oligosaccharide biosynthetic process	IBA IDA IGI TAS	12684507 35136180

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

Displaying **all 4** entries
GO Term	Evidence Code	PMID
membrane	HDA	19946888
endoplasmic reticulum membrane	TAS
cytoplasmic side of endoplasmic reticulum membrane	IDA	35136180
endomembrane system	IBA

GO Hierarchy

cellular component

cellular anatomical entity [inference]

endomembrane system

membrane

organelle membrane [inference]

endoplasmic reticulum membrane

side of membrane [inference]

cytoplasmic side of membrane [inference]

cytoplasmic side of endoplasmic reticulum membrane

Displaying **all 4** entries
GO Term	Evidence Code	PMID
protein binding	IPI	32814053
alpha-1,3-mannosyltransferase activity	IBA IDA TAS	35136180
GDP-Man:Man1GlcNAc2-PP-Dol alpha-1,3-mannosyltransferase activity	IDA	12684507 35136180
GDP-Man:Man2GlcNAc2-PP-dolichol alpha-1,6-mannosyltransferase activity	IDA	12684507 35136180

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

Gene Ontology information from NCBI Gene and UniProt.

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

Displaying **all 5** entries
Gene Ontology
GDP-Man
GDP-Man
alpha-1,3-mannosyltransferase activity
oligosaccharide-lipid intermediate biosynthetic process
transferase activity

Displaying **all 3** entries
InterPro
Glycosyl transferase, family 1
Glycosyltransferase subfamily 4-like, N-terminal domain
Mannosyltransferase ALG2

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	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

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

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
R05973	2.4.1.132	G65996GC	G53394BX
R06238	2.4.1.257	G53394BX	G43547MI

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 **all 3** entries
DO ID	Disease Name	Source
DOID:0050571	congenital disorder of glycosylation type II	Glyco-Disease Genes Database
DOID:0080561	congenital disorder of glycosylation Ii	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0110669	congenital myasthenic syndrome 14	Alliance of Genome Resources

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
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

PubChem Disease

MedGen Diseases

OMIM Phenotypes

KEGG Diseases

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

Ortholog

Displaying entries **31 - 40** of 83 in total

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Species	Gene ID	OrthoDB	Orthologous MAtrix
Ovis aries	101101953		SHEEP08964
Gorilla gorilla gorilla	101128869	9595_0:002d59	GORGO41562
Oryzias latipes	101167069		ORYLA05675
Tursiops truncatus	101320767		TURTR08879
Octodon degus	101576195		OCTDE23578
Jaculus jaculus	101615254		JACJA08377
Mustela putorius furo	101691293		MUSPF15531
Heterocephalus glaber	101717738		HETGA08001
Chrysemys picta bellii	101942628		CHRPI12294
Ictidomys tridecemlineatus	101963704		ICTTR00661

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

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Other Information

Tools

Search Tools

Summary

External Links

Annotation

OrthoDB (Group)

GlycoGene Database (GGDB)

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements