• Gene id: 4125

Gene Summary

• Gene Symbol: MAN2B1   Gene   UCSC   Ensembl
• Aliases: LAMAN, MANB
• Gene name: mannosidase alpha class 2B member 1
• Alternate names: lysosomal alpha-mannosidase, lysosomal acid alpha-mannosidase, mannosidase alpha-B, mannosidase, alpha B, lysosomal,
• Gene location: 19p13.13 (12666776: 12646507)     Exons: 24     NC_000019.10
• Gene summary(Entrez): This gene encodes an enzyme that hydrolyzes terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides. Its activity is necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover and it is member of family 38 o
• OMIM: 609458

Protein Summary

• Protein general information: O00754  
  • Name: Lysosomal alpha mannosidase (Laman) (EC 3.2.1.24) (Lysosomal acid alpha mannosidase) (Mannosidase alpha class 2B member 1) (Mannosidase alpha B) [Cleaved into: Lysosomal alpha mannosidase A peptide; Lysosomal alpha mannosidase B peptide; Lysosomal alpha m
  • Length: 1011  
  • Mass: 113,744
• Sequence:

  MGAYARASGVCARGCLDSAGPWTMSRALRPPLPPLCFFLLLLAAAGARAGGYETCPTVQPNMLNVHLLPHTHDDV
  GWLKTVDQYFYGIKNDIQHAGVQYILDSVISALLADPTRRFIYVEIAFFSRWWHQQTNATQEVVRDLVRQGRLEF
  ANGGWVMNDEAATHYGAIVDQMTLGLRFLEDTFGNDGRPRVAWHIDPFGHSREQASLFAQMGFDGFFFGRLDYQD
  KWVRMQKLEMEQVWRASTSLKPPTADLFTGVLPNGYNPPRNLCWDVLCVDQPLVEDPRSPEYNAKELVDYFLNVA
  TAQGRYYRTNHTVMTMGSDFQYENANMWFKNLDKLIRLVNAQQAKGSSVHVLYSTPACYLWELNKANLTWSVKHD
  DFFPYADGPHQFWTGYFSSRPALKRYERLSYNFLQVCNQLEALVGLAANVGPYGSGDSAPLNEAMAVLQHHDAVS
  GTSRQHVANDYARQLAAGWGPCEVLLSNALARLRGFKDHFTFCQQLNISICPLSQTAARFQVIVYNPLGRKVNWM
  VRLPVSEGVFVVKDPNGRTVPSDVVIFPSSDSQAHPPELLFSASLPALGFSTYSVAQVPRWKPQARAPQPIPRRS
  WSPALTIENEHIRATFDPDTGLLMEIMNMNQQLLLPVRQTFFWYNASIGDNESDQASGAYIFRPNQQKPLPVSRW
  AQIHLVKTPLVQEVHQNFSAWCSQVVRLYPGQRHLELEWSVGPIPVGDTWGKEVISRFDTPLETKGRFYTDSNGR
  EILERRRDYRPTWKLNQTEPVAGNYYPVNTRIYITDGNMQLTVLTDRSQGGSSLRDGSLELMVHRRLLKDDGRGV
  SEPLMENGSGAWVRGRHLVLLDTAQAAAAGHRLLAEQEVLAPQVVLAPGGGAAYNLGAPPRTQFSGLRRDLPPSV
  HLLTLASWGPEMVLLRLEHQFAVGEDSGRNLSAPVTLNLRDLFSTFTITRLQETTLVANQLREAASRLKWTTNTG
  PTPHQTPYQLDPANITLEPMEIRTFLASVQWKEVDG

• Structural information:
  • Interpro: IPR011013  IPR011330  IPR011682  IPR015341  IPR037094   IPR000602  IPR027291  IPR028995  IPR013780  
  • STRING: ENSP00000395473
• Other Databases: GeneCards:  MAN2B1  Malacards:  MAN2B1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004559	alpha-mannosidase activity	TAS	molecular function
GO:0005615	extracellular space	IDA	cellular component
GO:0006013	mannose metabolic process	IBA	biological process
GO:0006464	cellular protein modification process	IDA	biological process
GO:0006517	protein deglycosylation	TAS	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0009313	oligosaccharide catabolic process	TAS	biological process
GO:0030246	carbohydrate binding	IEA	molecular function
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0003824	catalytic activity	IEA	molecular function
GO:0004553	hydrolase activity, hydrolyzing O-glycosyl compounds	IEA	molecular function
GO:0004559	alpha-mannosidase activity	IEA	molecular function
GO:0004559	alpha-mannosidase activity	IEA	molecular function
GO:0004559	alpha-mannosidase activity	TAS	molecular function
GO:0004559	alpha-mannosidase activity	TAS	molecular function
GO:0005615	extracellular space	IDA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0006013	mannose metabolic process	IEA	biological process
GO:0006013	mannose metabolic process	IBA	biological process
GO:0006464	cellular protein modification process	IDA	biological process
GO:0006517	protein deglycosylation	TAS	biological process
GO:0008152	metabolic process	IEA	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0009313	oligosaccharide catabolic process	TAS	biological process
GO:0015923	mannosidase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016798	hydrolase activity, acting on glycosyl bonds	IEA	molecular function
GO:0030246	carbohydrate binding	IEA	molecular function
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0004559	alpha-mannosidase activity	TAS	molecular function
GO:0004559	alpha-mannosidase activity	TAS	molecular function
GO:0005615	extracellular space	IDA	cellular component
GO:0006013	mannose metabolic process	IBA	biological process
GO:0006464	cellular protein modification process	IDA	biological process
GO:0006517	protein deglycosylation	TAS	biological process
GO:0009313	oligosaccharide catabolic process	TAS	biological process
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04142	Lysosome

Diseases

Associated diseases	References
Alpha-mannosidosis	KEGG: H00139
Varicocele	MIK: 11882018
Glycoproteinoses	KEGG: H00422
Male infertility with varicocele	MIK: 11882018

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
11882018	Male infertility with varicocele			62 (26 infertile men with varicocele, 36 men of normal fertility)	Male infertility	acid alpha-mannosidase beta-galactosidase beta-N-acetylglucosaminidase