• Gene id: 85365

Gene Summary

• Gene Symbol: ALG2   Gene   UCSC   Ensembl
• Aliases: CDG1I, CDGIi, CMS14, CMSTA3, NET38, hALPG2
• Gene name: ALG2 alpha-1,3/1,6-mannosyltransferase
• Alternate names: alpha-1,3/1,6-mannosyltransferase ALG2, 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, alpha-1,3-mannosyltransferase ALG2, asp,
• Gene location: 9q22.33 (99221941: 99216424)     Exons: 3     NC_000009.12
• Gene summary(Entrez): This gene encodes a member of the glycosyltransferase 1 family. The encoded protein acts as an alpha 1,3 mannosyltransferase, mannosylating Man(2)GlcNAc(2)-dolichol diphosphate and Man(1)GlcNAc(2)-dolichol diphosphate to form Man(3)GlcNAc(2)-dolichol diph
• OMIM: 607905

Protein Summary

• Protein general information: Q9H553  
  • Name: Alpha 1,3/1,6 mannosyltransferase ALG2 (EC 2.4.1.132) (EC 2.4.1.257) (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(
  • Length: 416  
  • Mass: 47092
• Sequence:

  MAEEQGRERDSVPKPSVLFLHPDLGVGGAERLVLDAALALQARGCSVKIWTAHYDPGHCFAESRELPVRCAGDWL
  PRGLGWGGRGAAVCAYVRMVFLALYVLFLADEEFDVVVCDQVSACIPVFRLARRRKKILFYCHFPDLLLTKRDSF
  LKRLYRAPIDWIEEYTTGMADCILVNSQFTAAVFKETFKSLSHIDPDVLYPSLNVTSFDSVVPEKLDDLVPKGKK
  FLLLSINRYERKKNLTLALEALVQLRGRLTSQDWERVHLIVAGGYDERVLENVEHYQELKKMVQQSDLGQYVTFL
  RSFSDKQKISLLHSCTCVLYTPSNEHFGIVPLEAMYMQCPVIAVNSGGPLESIDHSVTGFLCEPDPVHFSEAIEK
  FIREPSLKATMGLAGRARVKEKFSPEAFTEQLYRYVTKLLV

• Structural information:
  • Interpro: IPR027054  IPR001296  IPR028098  
  • STRING: ENSP00000417764
• Other Databases: GeneCards:  ALG2  Malacards:  ALG2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0033577	protein glycosylation in endoplasmic reticulum	IBA	biological process
GO:0006490	oligosaccharide-lipid intermediate biosynthetic process	IBA	biological process
GO:0000033	alpha-1,3-mannosyltransferase activity	IBA	molecular function
GO:0006486	protein glycosylation	IEA	biological process
GO:0004378	GDP-Man:Man1GlcNAc2-PP-Dol alpha-1,3-mannosyltransferase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0004378	GDP-Man:Man1GlcNAc2-PP-Dol alpha-1,3-mannosyltransferase activity	IEA	molecular function
GO:0102704	GDP-Man:Man2GlcNAc2-PP-dolichol alpha-1,6-mannosyltransferase activity	IEA	molecular function
GO:0000033	alpha-1,3-mannosyltransferase activity	TAS	molecular function
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006488	dolichol-linked oligosaccharide biosynthetic process	TAS	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0015629	actin cytoskeleton	IDA	cellular component
GO:0097502	mannosylation	IEA	biological process
GO:0097502	mannosylation	IEA	biological process
GO:0097502	mannosylation	IEA	biological process
GO:0097502	mannosylation	IEA	biological process
GO:0097502	mannosylation	IEA	biological process
GO:0006486	protein glycosylation	IEA	biological process
GO:0051592	response to calcium ion	IDA	biological process
GO:0016020	membrane	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0051592	response to calcium ion	IDA	biological process
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0000033	alpha-1,3-mannosyltransferase activity	IDA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0048306	calcium-dependent protein binding	IPI	molecular function
GO:0048306	calcium-dependent protein binding	IPI	molecular function
GO:0048306	calcium-dependent protein binding	IPI	molecular function
GO:0048306	calcium-dependent protein binding	IMP	molecular function
GO:0047485	protein N-terminus binding	IPI	molecular function
GO:0046982	protein heterodimerization activity	IPI	molecular function
GO:0048306	calcium-dependent protein binding	IPI	molecular function
GO:0047485	protein N-terminus binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0033577	protein glycosylation in endoplasmic reticulum	IGI	biological process
GO:0006488	dolichol-linked oligosaccharide biosynthetic process	IGI	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00510	N-Glycan biosynthesis
hsa00513	Various types of N-glycan biosynthesis

Diseases

Associated diseases	References
Congenital myasthenic syndrome	KEGG:H00770
Congenital disorders of glycosylation type I	KEGG:H00118
Congenital myasthenic syndrome	KEGG:H00770
Congenital disorders of glycosylation type I	KEGG:H00118
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)