• Gene id: 4126

Gene Summary

• Gene Symbol: MANBA   Gene   UCSC   Ensembl
• Aliases: MANB1
• Gene name: mannosidase beta
• Alternate names: beta-mannosidase, beta-mannosidase A, lysosomal beta A mannosidase, mannanase, mannase, mannosidase, beta A, lysosomal,
• Gene location: 4q24 (102760967: 102630769)     Exons: 21     NC_000004.12
• Gene summary(Entrez): This gene encodes a member of the glycosyl hydrolase 2 family. The encoded protein localizes to the lysosome where it is the final exoglycosidase in the pathway for N-linked glycoprotein oligosaccharide catabolism. Mutations in this gene are associated wi
• OMIM: 609489

SNPs

rs2292596

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.422840C>G
NC_000005.10   g.422840C>T
NC_000005.9   g.422955C>G
NC_000005.9   g.422955C>T
NG_029834.2   g.123665C>G
NG_029834.2   g.123665C>T
NG_029834.1   g.123665C>G
NG_029834.1   g.123665C>T
NM_020731.4   c.565C>G
NM_020731.4   c.565C>T
NM_001242412.1  

Protein Summary

• Protein general information: O00462  
  • Name: Beta mannosidase (EC 3.2.1.25) (Lysosomal beta A mannosidase) (Mannanase) (Mannase)
  • Length: 879  
  • Mass: 100895
  • Tissue specificity: Ubiquitous. Detected in pancreas, kidney and placenta, ands at lower levels in liver, lung, brain, heart and muscle. {ECO
• Sequence:

  MRLHLLLLLALCGAGTTAAELSYSLRGNWSICNGNGSLELPGAVPGCVHSALFQQGLIQDSYYRFNDLNYRWVSL
  DNWTYSKEFKIPFEISKWQKVNLILEGVDTVSKILFNEVTIGETDNMFNRYSFDITNVVRDVNSIELRFQSAVLY
  AAQQSKAHTRYQVPPDCPPLVQKGECHVNFVRKEQCSFSWDWGPSFPTQGIWKDVRIEAYNICHLNYFTFSPIYD
  KSAQEWNLEIESTFDVVSSKPVGGQVIVAIPKLQTQQTYSIELQPGKRIVELFVNISKNITVETWWPHGHGNQTG
  YNMTVLFELDGGLNIEKSAKVYFRTVELIEEPIKGSPGLSFYFKINGFPIFLKGSNWIPADSFQDRVTSELLRLL
  LQSVVDANMNTLRVWGGGIYEQDEFYELCDELGIMVWQDFMFACALYPTDQGFLDSVTAEVAYQIKRLKSHPSII
  IWSGNNENEEALMMNWYHISFTDRPIYIKDYVTLYVKNIRELVLAGDKSRPFITSSPTNGAETVAEAWVSQNPNS
  NYFGDVHFYDYISDCWNWKVFPKARFASEYGYQSWPSFSTLEKVSSTEDWSFNSKFSLHRQHHEGGNKQMLYQAG
  LHFKLPQSTDPLRTFKDTIYLTQVMQAQCVKTETEFYRRSRSEIVDQQGHTMGALYWQLNDIWQAPSWASLEYGG
  KWKMLHYFAQNFFAPLLPVGFENENTFYIYGVSDLHSDYSMTLSVRVHTWSSLEPVCSRVTERFVMKGGEAVCLY
  EEPVSELLRRCGNCTRESCVVSFYLSADHELLSPTNYHFLSSPKEAVGLCKAQITAIISQQGDIFVFDLETSAVA
  PFVWLDVGSIPGRFSDNGFLMTEKTRTILFYPWEPTSKNELEQSFHVTSLTDIY

• Structural information:
  • Interpro: IPR036156  IPR041625  IPR008979  IPR006103  IPR017853   IPR013783  IPR041447  
  • STRING: ENSP00000226578
• Other Databases: GeneCards:  MANBA  Malacards:  MANBA

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005764	lysosome	IBA	cellular component
GO:0004567	beta-mannosidase activity	IBA	molecular function
GO:0006516	glycoprotein catabolic process	IBA	biological process
GO:0004567	beta-mannosidase activity	IDA	molecular function
GO:0006516	glycoprotein catabolic process	ISS	biological process
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0004553	hydrolase activity, hydrolyzing O-glycosyl compounds	IEA	molecular function
GO:0005764	lysosome	IEA	cellular component
GO:0008152	metabolic process	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016798	hydrolase activity, acting on glycosyl bonds	IEA	molecular function
GO:0004567	beta-mannosidase activity	IEA	molecular function
GO:0004567	beta-mannosidase activity	TAS	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0009313	oligosaccharide catabolic process	TAS	biological process
GO:0035577	azurophil granule membrane	TAS	cellular component
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0005764	lysosome	IEA	cellular component
GO:0005537	mannose binding	IEA	molecular function
GO:0004567	beta-mannosidase activity	IEA	molecular function
GO:0005764	lysosome	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0006464	cellular protein modification process	NAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04142	Lysosome
hsa00511	Other glycan degradation

Diseases

Associated diseases	References
Glycoproteinoses	KEGG:H00422
beta-Mannosidosis	KEGG:H00140
Glycoproteinoses	KEGG:H00422
beta-Mannosidosis	KEGG:H00140
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq