• Gene id: 4124

Gene Summary

• Gene Symbol: MAN2A1   Gene   UCSC   Ensembl
• Aliases: AMan II, GOLIM7, MANA2, MANII
• Gene name: mannosidase alpha class 2A member 1
• Alternate names: alpha-mannosidase 2, Golgi alpha-mannosidase II, golgi integral membrane protein 7, mannosidase, alpha type II, mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase,
• Gene location: 5q21.3 (109689365: 109869624)     Exons: 25     NC_000005.10
• Gene summary(Entrez): This gene encodes a glycosyl hydrolase that localizes to the Golgi and catalyzes the final hydrolytic step in the asparagine-linked oligosaccharide (N-glycan) maturation pathway. Mutations in the mouse homolog of this gene have been shown to cause a syste
• OMIM: 154582

Protein Summary

• Protein general information: Q16706  
  • Name: Alpha mannosidase 2 (EC 3.2.1.114) (Golgi alpha mannosidase II) (AMan II) (Man II) (Mannosidase alpha class 2A member 1) (Mannosyl oligosaccharide 1,3 1,6 alpha mannosidase)
  • Length: 1144  
  • Mass: 131141
• Sequence:

  MKLSRQFTVFGSAIFCVVIFSLYLMLDRGHLDYPRNPRREGSFPQGQLSMLQEKIDHLERLLAENNEIISNIRDS
  VINLSESVEDGPKSSQSNFSQGAGSHLLPSQLSLSVDTADCLFASQSGSHNSDVQMLDVYSLISFDNPDGGVWKQ
  GFDITYESNEWDTEPLQVFVVPHSHNDPGWLKTFNDYFRDKTQYIFNNMVLKLKEDSRRKFIWSEISYLSKWWDI
  IDIQKKDAVKSLIENGQLEIVTGGWVMPDEATPHYFALIDQLIEGHQWLENNIGVKPRSGWAIDPFGHSPTMAYL
  LNRAGLSHMLIQRVHYAVKKHFALHKTLEFFWRQNWDLGSVTDILCHMMPFYSYDIPHTCGPDPKICCQFDFKRL
  PGGRFGCPWGVPPETIHPGNVQSRARMLLDQYRKKSKLFRTKVLLAPLGDDFRYCEYTEWDLQFKNYQQLFDYMN
  SQSKFKVKIQFGTLSDFFDALDKADETQRDKGQSMFPVLSGDFFTYADRDDHYWSGYFTSRPFYKRMDRIMESHL
  RAAEILYYFALRQAHKYKINKFLSSSLYTALTEARRNLGLFQHHDAITGTAKDWVVVDYGTRLFHSLMVLEKIIG
  NSAFLLILKDKLTYDSYSPDTFLEMDLKQKSQDSLPQKNIIRLSAEPRYLVVYNPLEQDRISLVSVYVSSPTVQV
  FSASGKPVEVQVSAVWDTANTISETAYEISFRAHIPPLGLKVYKILESASSNSHLADYVLYKNKVEDSGIFTIKN
  MINTEEGITLENSFVLLRFDQTGLMKQMMTKEDGKHHEVNVQFSWYGTTIKRDKSGAYLFLPDGNAKPYVYTTPP
  FVRVTHGRIYSEVTCFFDHVTHRVRLYHIQGIEGQSVEVSNIVDIRKVYNREIAMKISSDIKSQNRFYTDLNGYQ
  IQPRMTLSKLPLQANVYPMTTMAYIQDAKHRLTLLSAQSLGVSSLNSGQIEVIMDRRLMQDDNRGLEQGIQDNKI
  TANLFRILLEKRSAVNTEEEKKSVSYPSLLSHITSSLMNHPVIPMANKFSSPTLELQGEFSPLQSSLPCDIHLVN
  LRTIQSKVGNGHSNEAALILHRKGFDCRFSSKGTGLFCSTTQGKILVQKLLNKFIVESLTPSSLSLMHSPPGTQN
  ISEINLSPMEISTFRIQLR

• Structural information:
  • Interpro: IPR011013  IPR011330  IPR011682  IPR015341  IPR037094   IPR000602  IPR027291  IPR028995  IPR013780  
  • STRING: ENSP00000261483
• Other Databases: GeneCards:  MAN2A1  Malacards:  MAN2A1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006517	protein deglycosylation	IBA	biological process
GO:0006491	N-glycan processing	IBA	biological process
GO:0006013	mannose metabolic process	IBA	biological process
GO:0004559	alpha-mannosidase activity	IBA	molecular function
GO:0000139	Golgi membrane	IBA	cellular component
GO:0004559	alpha-mannosidase activity	IEA	molecular function
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0006013	mannose metabolic process	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0030246	carbohydrate binding	IEA	molecular function
GO:0008152	metabolic process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016798	hydrolase activity, acting on glycosyl bonds	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0004572	mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity	TAS	molecular function
GO:0004572	mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity	IEA	molecular function
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0005615	extracellular space	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005801	cis-Golgi network	IEA	cellular component
GO:0006491	N-glycan processing	IEA	biological process
GO:0007005	mitochondrion organization	IEA	biological process
GO:0007033	vacuole organization	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016799	hydrolase activity, hydrolyzing N-glycosyl compounds	IEA	molecular function
GO:0050769	positive regulation of neurogenesis	IEA	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:0001889	liver development	IEA	biological process
GO:0007585	respiratory gaseous exchange by respiratory system	IEA	biological process
GO:0015923	mannosidase activity	IEA	molecular function
GO:0048286	lung alveolus development	IEA	biological process
GO:0060042	retina morphogenesis in camera-type eye	IEA	biological process
GO:0000139	Golgi membrane	IEA	cellular component
GO:0006486	protein glycosylation	IEA	biological process
GO:0005797	Golgi medial cisterna	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0016020	membrane	HDA	cellular component

KEGG pathways

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

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq