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Aliases for MAN2B1 Gene

Aliases for MAN2B1 Gene

  • Mannosidase, Alpha, Class 2B, Member 1 2 3
  • MANB 3 4 6
  • Lysosomal Acid Alpha-Mannosidase 3 4
  • Mannosidase Alpha-B 3 4
  • EC 3.2.1.24 4 63
  • LAMAN 3 4
  • Mannosidase Alpha Class 2B Member 1 4
  • Mannosidase, Alpha B, Lysosomal 3
  • Lysosomal Alpha-Mannosidase 3
  • EC 3.2.1 63

External Ids for MAN2B1 Gene

Previous Symbols for MAN2B1 Gene

  • MANB

Summaries for MAN2B1 Gene

Entrez Gene Summary for MAN2B1 Gene

  • 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 of glycosyl hydrolases. The full length protein is processed in two steps. First, a 49 aa leader sequence is cleaved off and the remainder of the protein is processed into 3 peptides of 70 kDa, 42 kDa (D) and 13/15 kDa (E). Next, the 70 kDa peptide is further processed into three peptides (A, B and C). The A, B and C peptides are disulfide-linked. Defects in this gene have been associated with lysosomal alpha-mannosidosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]

GeneCards Summary for MAN2B1 Gene

MAN2B1 (Mannosidase, Alpha, Class 2B, Member 1) is a Protein Coding gene. Diseases associated with MAN2B1 include mannosidosis, alpha-, types i and ii and alpha-mannosidosis, infantile form. Among its related pathways are Lysosome and Other glycan degradation. GO annotations related to this gene include carbohydrate binding and alpha-mannosidase activity. An important paralog of this gene is MAN2A2.

UniProtKB/Swiss-Prot for MAN2B1 Gene

  • Necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover. Cleaves all known types of alpha-mannosidic linkages

Tocris Summary for MAN2B1 Gene

  • Mannosidases are divided into two subtypes; I and II, (EC numbers 3.2.1.113 and 3.2.1.114 respectively) which display a wide expression pattern. Mannosidase I hydrolyzes (1,2)-linked alpha-D-mannose residues in the oligo-mannose oligosaccharide Man9(GlcNAc)2 and mannosidase II hydrolyzes (1,3)- and (1,6)-linked alpha-D-mannose residues in Man5(GlcNAc)3. Both subtypes require a divalent cation cofactor. Mutations in mannosidases can cause mannosidosis (mannosidase I deficiency).

No data available for Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MAN2B1 Gene

Genomics for MAN2B1 Gene

Genomic Location for MAN2B1 Gene

Start:
12,646,508 bp from pter
End:
12,666,777 bp from pter
Size:
20,270 bases
Orientation:
Minus strand

Genomic View for MAN2B1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MAN2B1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MAN2B1 Gene

Regulatory Elements for MAN2B1 Gene

Proteins for MAN2B1 Gene

  • Protein details for MAN2B1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00754-MA2B1_HUMAN
    Recommended name:
    Lysosomal alpha-mannosidase
    Protein Accession:
    O00754
    Secondary Accessions:
    • G5E928
    • O15330
    • Q16680
    • Q93094
    • Q9BW13

    Protein attributes for MAN2B1 Gene

    Size:
    1011 amino acids
    Molecular mass:
    113744 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Note=Binds 1 zinc ion per subunit.;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAB03816.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAC50812.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for MAN2B1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MAN2B1 Gene

Proteomics data for MAN2B1 Gene at MOPED

Post-translational modifications for MAN2B1 Gene

  • First processed into 3 peptides of 70 kDa, 42 kDa (D) and 13/15 kDa (E). The 70 kDa peptide is further processed into three peptides (A, B and C). The A, B and C peptides are disulfide-linked
  • Heavily glycosylated.
  • Glycosylation at Asn133, Asn310, Asn367, Asn497, Asn645, Asn651, Asn692, Asn766, Asn832, Asn930, and Asn989

Other Protein References for MAN2B1 Gene

Domains for MAN2B1 Gene

Suggested Antigen Peptide Sequences for MAN2B1 Gene

Graphical View of Domain Structure for InterPro Entry

O00754

UniProtKB/Swiss-Prot:

MA2B1_HUMAN
Family:
  • Belongs to the glycosyl hydrolase 38 family.:
    • O00754
genes like me logo Genes that share domains with MAN2B1: view

No data available for Gene Families for MAN2B1 Gene

Function for MAN2B1 Gene

Molecular function for MAN2B1 Gene

GENATLAS Biochemistry: mannosidase alpha B isoform,exoglycosidase,110kDa,lysosomal,Golgi,involved in processing of Asp-linked (N) glycans
UniProtKB/Swiss-Prot CatalyticActivity: Hydrolysis of terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides
UniProtKB/Swiss-Prot Function: Necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover. Cleaves all known types of alpha-mannosidic linkages

Enzyme Numbers (IUBMB) for MAN2B1 Gene

Gene Ontology (GO) - Molecular Function for MAN2B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds --
GO:0004559 alpha-mannosidase activity IEA --
GO:0008270 zinc ion binding IEA --
GO:0015923 mannosidase activity --
genes like me logo Genes that share ontologies with MAN2B1: view
genes like me logo Genes that share phenotypes with MAN2B1: view

Animal Models for MAN2B1 Gene

MGI Knock Outs for MAN2B1:

miRNA for MAN2B1 Gene

miRTarBase miRNAs that target MAN2B1

No data available for Transcription Factor Targeting and HOMER Transcription for MAN2B1 Gene

Localization for MAN2B1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MAN2B1 Gene

Lysosome.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MAN2B1 Gene COMPARTMENTS Subcellular localization image for MAN2B1 gene
Compartment Confidence
lysosome 5
vacuole 5
endoplasmic reticulum 2
extracellular 1
golgi apparatus 1
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for MAN2B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IEA --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with MAN2B1: view

Pathways for MAN2B1 Gene

SuperPathways for MAN2B1 Gene

genes like me logo Genes that share pathways with MAN2B1: view

Pathways by source for MAN2B1 Gene

2 KEGG pathways for MAN2B1 Gene

Interacting Proteins for MAN2B1 Gene

Gene Ontology (GO) - Biological Process for MAN2B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process --
GO:0006013 mannose metabolic process IEA --
GO:0006464 cellular protein modification process IDA 8910458
GO:0006517 protein deglycosylation TAS 8910458
genes like me logo Genes that share ontologies with MAN2B1: view

Compounds for MAN2B1 Gene

(5) Tocris Compounds for MAN2B1 Gene

Compound Action Cas Number
1-Deoxymannojirimycin hydrochloride alpha-Mannosidase I inhibitor [73465-43-7]
1-Deoxynojirimycin Glucosidase I and II inhibitor [19130-96-2]
Kifunensine Inhibitor of class I alpha-mannosidases [109944-15-2]
Miglitol alpha-glucosidase inhibitor [72432-03-2]
OGT 2115 Antiangiogenic. Heparanase inhibitor [853929-59-6]

(4) Novoseek inferred chemical compound relationships for MAN2B1 Gene

Compound -log(P) Hits PubMed IDs
gdpmannose 66.5 2
mannose 59.6 2
mannose 6-phosphate 50 1
polysaccharide 31.9 3
genes like me logo Genes that share compounds with MAN2B1: view

Transcripts for MAN2B1 Gene

Unigene Clusters for MAN2B1 Gene

Mannosidase, alpha, class 2B, member 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MAN2B1 Gene

No ASD Table

Relevant External Links for MAN2B1 Gene

GeneLoc Exon Structure for
MAN2B1
ECgene alternative splicing isoforms for
MAN2B1

Expression for MAN2B1 Gene

mRNA expression in normal human tissues for MAN2B1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MAN2B1 Gene

This gene is overexpressed in Whole Blood (5.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for MAN2B1 Gene

SOURCE GeneReport for Unigene cluster for MAN2B1 Gene Hs.356769

genes like me logo Genes that share expressions with MAN2B1: view

No data available for mRNA Expression by UniProt/SwissProt for MAN2B1 Gene

Orthologs for MAN2B1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MAN2B1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MAN2B1 35
  • 99.29 (n)
  • 98.93 (a)
MAN2B1 36
  • 99 (a)
OneToMany
cow
(Bos Taurus)
Mammalia MAN2B1 35
  • 83.05 (n)
  • 81.14 (a)
MANB 36
  • 81 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 36
  • 82 (a)
OneToMany
MAN2B1 35
  • 84.72 (n)
  • 83.26 (a)
mouse
(Mus musculus)
Mammalia Man2b1 35
  • 77.59 (n)
  • 77.32 (a)
Man2b1 16
Man2b1 36
  • 75 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 69 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Man2b1 35
  • 77.66 (n)
  • 76.59 (a)
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 61 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia man2b1 35
  • 62.03 (n)
  • 60.86 (a)
zebrafish
(Danio rerio)
Actinopterygii man2b1 35
  • 60.45 (n)
  • 60.77 (a)
man2b1 36
  • 57 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008584 35
  • 55.34 (n)
  • 49.23 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG5322 36
  • 42 (a)
ManyToMany
CG6206 36
  • 42 (a)
ManyToMany
CG9463 36
  • 39 (a)
ManyToMany
CG9465 36
  • 40 (a)
ManyToMany
CG9466 36
  • 40 (a)
ManyToMany
CG9468 36
  • 39 (a)
ManyToMany
LM408 35
  • 53.28 (n)
  • 48.25 (a)
CG9466 37
  • 39 (a)
CG5322 37
  • 42 (a)
CG9465 37
  • 40 (a)
CG9468 37
  • 39 (a)
CG9463 37
  • 38 (a)
BcDNA:GH02419 37
  • 45 (a)
worm
(Caenorhabditis elegans)
Secernentea aman-1 35
  • 47.86 (n)
  • 40.74 (a)
aman-1 36
  • 38 (a)
OneToMany
F55D10.1 37
  • 38 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G13980 35
  • 48.52 (n)
  • 43.41 (a)
rice
(Oryza sativa)
Liliopsida Os11g0525600 35
  • 48.94 (n)
  • 43.07 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 50 (a)
OneToMany
Species with no ortholog for MAN2B1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MAN2B1 Gene

ENSEMBL:
Gene Tree for MAN2B1 (if available)
TreeFam:
Gene Tree for MAN2B1 (if available)

Paralogs for MAN2B1 Gene

Paralogs for MAN2B1 Gene

Selected SIMAP similar genes for MAN2B1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with MAN2B1: view

Variants for MAN2B1 Gene

Sequence variations from dbSNP and Humsavar for MAN2B1 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs749920 -- 12,658,850(-) TTTTG(G/T)TAACA intron-variant
rs1054486 other, - 12,663,394(-) AGCCG(C/G)TGGTG reference, missense
rs1054487 other, - 12,661,351(-) CCACA(A/C/T)TGTGA missense, reference
rs1133330 other, - 12,661,276(-) CATCC(A/G)GCTGG missense, reference
rs2004492 -- 12,659,059(-) taaca(C/T)ggtga intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MAN2B1 Gene

Variant ID Type Subtype PubMed ID
nsv138389 CNV Loss 16902084
dgv3733n71 CNV Loss 21882294

Relevant External Links for MAN2B1 Gene

HapMap Linkage Disequilibrium report
MAN2B1
Human Gene Mutation Database (HGMD)
MAN2B1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MAN2B1 Gene

Disorders for MAN2B1 Gene

(1) OMIM Diseases for MAN2B1 Gene (609458)

UniProtKB/Swiss-Prot

MA2B1_HUMAN
  • Mannosidosis, alpha B, lysosomal (MANSA) [MIM:248500]: A lysosomal storage disease characterized by accumulation of unbranched oligosaccharide chains. This accumulation is expressed histologically as cytoplasmic vacuolation predominantly in the CNS and parenchymatous organs. Depending on the clinical findings at the age of onset, a severe infantile (type I) and a mild juvenile (type II) form of alpha-mannosidosis are recognized. There is considerable variation in the clinical expression with mental retardation, recurrent infections, impaired hearing and Hurler-like skeletal changes being the most consistent abnormalities. {ECO:0000269 PubMed:12718372, ECO:0000269 PubMed:15712269, ECO:0000269 PubMed:22161967, ECO:0000269 PubMed:9158146, ECO:0000269 PubMed:9758606, ECO:0000269 PubMed:9915946}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for MAN2B1 Gene

(1) Novoseek inferred disease relationships for MAN2B1 Gene

Disease -log(P) Hits PubMed IDs
mannosidosis 84.3 1

Genatlas disease for MAN2B1 Gene

mannosidosis alpha,characterized by progressive mental retardation,hepatosplenomegaly,severe dysostosis multiplex and early death,milder forms in juvenile-adult

Relevant External Links for MAN2B1

GeneTests
MAN2B1
GeneReviews
MAN2B1
Genetic Association Database (GAD)
MAN2B1
Human Genome Epidemiology (HuGE) Navigator
MAN2B1
genes like me logo Genes that share disorders with MAN2B1: view

Publications for MAN2B1 Gene

  1. Partial sequence of the purified protein confirms the identity of cDNA coding for human lysosomal alpha-mannosidase B. (PMID: 7832746) Emiliani C. … Orlacchio A. (Biochem. J. 1995) 3 4 23
  2. Human lysosomal alpha-mannosidase: isolation and nucleotide sequence of the full-length cDNA. (PMID: 8166692) Nebes V.L. … Schmidt M.C. (Biochem. Biophys. Res. Commun. 1994) 3 4 23
  3. Cloning, expression, purification, and characterization of the human broad specificity lysosomal acid alpha-mannosidase. (PMID: 8910458) Liao Y.-F. … Moremen K.W. (J. Biol. Chem. 1996) 3 4 23
  4. Alpha-mannosidosis: functional cloning of the lysosomal alpha- mannosidase cDNA and identification of a mutation in two affected siblings. (PMID: 9158146) Nilssen O. … Tollersrud O.-K. (Hum. Mol. Genet. 1997) 3 4 23
  5. Genomic structure of the human lysosomal alpha-mannosidase gene (MANB). (PMID: 9192839) Riise H.M.F. … Ceccherini I. (Genomics 1997) 3 4 23

Products for MAN2B1 Gene

Sources for MAN2B1 Gene

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