• Gene id: 10905

Gene Summary

• Gene Symbol: MAN1A2   Gene   UCSC   Ensembl
• Aliases: MAN1B
• Gene name: mannosidase alpha class 1A member 2
• Alternate names: mannosyl-oligosaccharide 1,2-alpha-mannosidase IB, alpha-1,2-mannosidase IB, alpha1,2-mannosidase, processing alpha-1,2-mannosidase IB,
• Gene location: 1p12 (117367392: 117528871)     Exons: 14     NC_000001.11
• Gene summary(Entrez): Alpha-mannosidases function at different stages of N-glycan maturation in mammalian cells. See MAN2A1 (MIM 154582) for general information.[supplied by OMIM, Mar 2008]
• OMIM: 604345

Protein Summary

• Protein general information: O60476  
  • Name: Mannosyl oligosaccharide 1,2 alpha mannosidase IB (EC 3.2.1.113) (Mannosidase alpha class 1A member 2) (Processing alpha 1,2 mannosidase IB) (Alpha 1,2 mannosidase IB)
  • Length: 641  
  • Mass: 73004
  • Tissue specificity: Highest levels of expression in placenta and testis.
• Sequence:

  MTTPALLPLSGRRIPPLNLGPPSFPHHRATLRLSEKFILLLILSAFITLCFGAFFFLPDSSKHKRFDLGLEDVLI
  PHVDAGKGAKNPGVFLIHGPDEHRHREEEERLRNKIRADHEKALEEAKEKLRKSREEIRAEIQTEKNKVVQEMKI
  KENKPLPPVPIPNLVGIRGGDPEDNDIREKREKIKEMMKHAWDNYRTYGWGHNELRPIARKGHSPNIFGSSQMGA
  TIVDALDTLYIMGLHDEFLDGQRWIEDNLDFSVNSEVSVFEVNIRFIGGLLAAYYLSGEEIFKIKAVQLAEKLLP
  AFNTPTGIPWAMVNLKSGVGRNWGWASAGSSILAEFGTLHMEFIHLSYLTGDLTYYKKVMHIRKLLQKMDRPNGL
  YPNYLNPRTGRWGQYHTSVGGLGDSFYEYLLKAWLMSDKTDHEARKMYDDAIEAIEKHLIKKSRGGLTFIGEWKN
  GHLEKKMGHLACFAGGMFALGADGSRADKAGHYLELGAEIARTCHESYDRTALKLGPESFKFDGAVEAVAVRQAE
  KYYILRPEVIETYWYLWRFTHDPRYRQWGWEAALAIEKYCRVNGGFSGVKDVYSSTPTHDDVQQSFFLAETLKYL
  YLLFSGDDLLPLDHWVFNTEAHPLPVLHLANTTLSGNPAVR

• Structural information:
  • Interpro: IPR012341  IPR001382  IPR036026  
  • STRING: ENSP00000348959
• Other Databases: GeneCards:  MAN1A2  Malacards:  MAN1A2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000139	Golgi membrane	IBA	cellular component
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0006491	N-glycan processing	IBA	biological process
GO:0004571	mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	IBA	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0004571	mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0008152	metabolic process	IEA	biological process
GO:0016798	hydrolase activity, acting on glycosyl bonds	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0004571	mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	TAS	molecular function
GO:0016020	membrane	TAS	cellular component
GO:0016021	integral component of membrane	TAS	cellular component
GO:0006491	N-glycan processing	TAS	biological process
GO:0004571	mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	IEA	molecular function
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:1904381	Golgi apparatus mannose trimming	TAS	biological process
GO:0009100	glycoprotein metabolic process	IEA	biological process
GO:0000139	Golgi membrane	IEA	cellular component
GO:0048286	lung alveolus development	IEA	biological process
GO:0007585	respiratory gaseous exchange by respiratory system	IEA	biological process
GO:0000139	Golgi membrane	IEA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0006486	protein glycosylation	IEA	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0016020	membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04141	Protein processing in endoplasmic reticulum
hsa00510	N-Glycan biosynthesis
hsa00513	Various types of N-glycan biosynthesis

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray