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MAN2B1 Gene

protein-coding   GIFtS: 64
GCID: GC19M012757

Mannosidase, Alpha, Class 2B, Member 1


(Previous symbol: MANB)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Mannosidase, Alpha, Class 2B, Member 11 2     Lysosomal Alpha-Mannosidase2
MANB1 2 3 5     Mannosidase, Alpha B, Lysosomal2
Lysosomal Acid Alpha-Mannosidase2 3     Laman3
Mannosidase Alpha-B2 3     Mannosidase Alpha Class 2B Member 13
LAMAN2 3     EC 3.2.18
EC 3.2.1.243 8     

External Ids:    HGNC: 68261   Entrez Gene: 41252   Ensembl: ENSG000001047747   OMIM: 6094585   UniProtKB: O007543   

Export aliases for MAN2B1 gene to outside databases

Previous GC identifers: GC19M012888 GC19M012980 GC19M012602 GC19M012618 GC19M012330


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 alpha-mannosidosis, adult form, and mannosidosis, alpha-, types i and ii. GO annotations related to this gene include carbohydrate binding and alpha-mannosidase activity. An important paralog of this gene is MAN2B2.

UniProtKB/Swiss-Prot: MA2B1_HUMAN, O00754
Function: Necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover. Cleaves
all known types of alpha-mannosidic linkages

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).




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000019.10  NT_011295.12  NC_018930.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MAN2B1 gene promoter:
         NF-1   NF-1/L   RFX1   Sp1   Bach2   GATA-1   POU2F1   NRF-2   POU2F1a   HOXA5   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMAN2B1 promoter sequence
   Search Chromatin IP Primers for MAN2B1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MAN2B1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19p13.2   Ensembl cytogenetic band:  19p13.2   HGNC cytogenetic band: 19p13.2

MAN2B1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MAN2B1 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M012757:  view genomic region     (about GC identifiers)

Start:
12,757,322 bp from pter      End:
12,777,591 bp from pter
Size:
20,270 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: MA2B1_HUMAN, O00754 (See protein sequence)
Recommended Name: Lysosomal alpha-mannosidase precursor  
Size: 1011 amino acids; 113744 Da
Cofactor: Binds 1 zinc ion per subunit (By similarity)
Sequence caution: Sequence=AAB03816.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAC50812.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: G5E928 O15330 Q16680 Q93094 Q9BW13
Alternative splicing: 2 isoforms:  O00754-1   O00754-2   (Gene prediction based on EST data)

Explore the universe of human proteins at neXtProt for MAN2B1: NX_O00754

Explore proteomics data for MAN2B1 at MOPED

Post-translational modifications: 

  • 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-linked1
  • Heavily glycosylated1
  • Glycosylation2 at Asn133, Asn310, Asn367, Asn497, Asn645, Asn651, Asn692, Asn766, Asn832, Asn930,
                                 Asn989
  • Selected DME Specific Peptides for MAN2B1 (O00754) (see all 25)
     RHLELEW  LNISICP  IDPFGHS  RIYITDG 


    See MAN2B1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_000519.2  NP_001166969.1  

    ENSEMBL proteins: 
     ENSP00000395473   ENSP00000221363   ENSP00000469456   ENSP00000471685   ENSP00000470174  
     ENSP00000470533  

    MAN2B1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Protein Over-expression Lysate for MAN2B1
    OriGene Custom MassSpec
    OriGene Custom Protein Services for MAN2B1
    GenScript Custom Purified and Recombinant Proteins Services for MAN2B1
    Novus Biologicals MAN2B1 Protein
    Novus Biologicals MAN2B1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MAN2B1

    MAN2B1 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for MAN2B1
    Novus Biologicals MAN2B1 Antibodies
    Abcam antibodies for MAN2B1
    Cloud-Clone Corp. Antibodies for MAN2B1
    Search ThermoFisher Antibodies for MAN2B1
    Search LSBio for Antibodies for MAN2B1

    MAN2B1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for MAN2B1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for MAN2B1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for MAN2B1
    Cloud-Clone Corp. CLIAs for MAN2B1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 7):
     IPR027291 Glyco_hydro_38/57_N
     IPR011682 Glyco_hydro_38_C
     IPR015341 Glyco_hydro_38_cen
     IPR000602 Glyco_hydro_38_N
     IPR011013 Gal_mutarotase_SF_dom

    Graphical View of Domain Structure for InterPro Entry O00754

    ProtoNet protein and cluster: O00754

    1 Blocks protein domain: IPB000602 Glycoside hydrolase

    UniProtKB/Swiss-Prot: MA2B1_HUMAN, O00754
    Similarity: Belongs to the glycosyl hydrolase 38 family


    MAN2B1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MA2B1_HUMAN, O00754
    Function: Necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover. Cleaves
    all known types of alpha-mannosidic linkages
    Catalytic activity: Hydrolysis of terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides

         Genatlas biochemistry entry for MAN2B1:
    mannosidase alpha B isoform,exoglycosidase,110kDa,lysosomal,Golgi,involved in processing of Asp-linked (N) glycans

         Enzyme Numbers (IUBMB): EC 3.2.1.241 2 EC 3.2.12

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004553hydrolase activity, hydrolyzing O-glycosyl compounds ----
    GO:0004559alpha-mannosidase activity IEA--
    GO:0008270zinc ion binding IEA--
    GO:0015923mannosidase activity ----
         
    MAN2B1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for MAN2B1:
     Decreased influenza A H1N1 (A/  Decreased influenza A/WSN/33 r 

         Selected MGI mutant phenotypes (inferred from 1 allele(MGI details for Man2b1) (see all 16):
     behavior/neurological  cardiovascular system  cellular  digestive/alimentary  endocrine/exocrine gland 
     growth/size/body  hearing/vestibular/ear  hematopoietic system  homeostasis/metabolism  immune system 
     liver/biliary system  muscle  nervous system  renal/urinary system  skeleton 

    MAN2B1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Man2b1tm1Psa for MAN2B1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MAN2B1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for MAN2B1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MAN2B1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MAN2B1

    miRNA
    Products:
        
    miRTarBase miRNAs that target MAN2B1:
    hsa-mir-30a-5p (MIRT028480)

    Block miRNA regulation of human, mouse, rat MAN2B1 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate MAN2B1
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for MAN2B1
    Predesigned siRNA for gene silencing in human, mouse, rat MAN2B1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for MAN2B1

    Clone
    Products:
         
    OriGene clones in human, mouse for MAN2B1 (see all 11)
    OriGene ORF clones in mouse, rat for MAN2B1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): MAN2B1 (NM_000528)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MAN2B1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MAN2B1

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for MAN2B1
    Browse ESI BIO Cell Lines and PureStem Progenitors for MAN2B1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAN2B1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MA2B1_HUMAN, O00754: Lysosome
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    lysosome5
    vacuole5
    endoplasmic reticulum2
    extracellular1
    golgi apparatus1
    mitochondrion1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005764lysosome IEA--

    MAN2B1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for MAN2B1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Other glycan degradation
    Other glycan degradation
    2Lysosome
    Lysosome

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    2 Kegg Pathways  (Kegg details for MAN2B1):
        Other glycan degradation
    Lysosome


    MAN2B1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including MAN2B1: 
              Glycosylation in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for MAN2B1

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    Selected Interacting proteins for MAN2B1 (O007542, 3 ENSP000003954734) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BTKQ061873I2D: score=2 
    SMAD9O151983I2D: score=1 
    NRF1ENSP000002231904STRING: ENSP00000223190
    GLAENSP000002185164STRING: ENSP00000218516
    NAGAENSP000003796804STRING: ENSP00000379680
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process ----
    GO:0006013mannose metabolic process IEA--
    GO:0006464cellular protein modification process IDA8910458
    GO:0006517protein deglycosylation TAS8910458

    MAN2B1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Enzo Life Sciences drugs & compounds for MAN2B1
      Browse compounds at ApexBio 

    Compounds for MAN2B1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    KifunensineInhibitor of class I alpha-mannosidases[109944-15-2]
    1-DeoxynojirimycinGlucosidase I and II inhibitor[19130-96-2]
    1-Deoxymannojirimycin hydrochloridealpha-Mannosidase I inhibitor[73465-43-7]
    Miglitolalpha-glucosidase inhibitor[72432-03-2]
    OGT 2115Antiangiogenic. Heparanase inhibitor[853929-59-6]

    4 Novoseek inferred chemical compound relationships for MAN2B1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gdpmannose 66.5 3 11238967 (2)
    mannose 59.6 2 18800177 (1), 11238967 (1)
    mannose 6-phosphate 50 1 15269179 (1)
    polysaccharide 31.9 3 8768520 (1), 19884343 (1), 19722277 (1)



    MAN2B1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for MAN2B1 gene (2 alternative transcripts): 
    NM_000528.3  NM_001173498.1  

    Unigene Cluster for MAN2B1:

    Mannosidase, alpha, class 2B, member 1
    Hs.356769  [show with all ESTs]
    Unigene Representative Sequence: NM_001173498
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000469423 ENST00000480851 ENST00000493218 ENST00000456935(uc010dyv.1 uc002mub.2)
    ENST00000221363 ENST00000466794 ENST00000596591 ENST00000595880 ENST00000433513
    ENST00000593686 ENST00000495617 ENST00000465830 ENST00000462144 ENST00000486847
    ENST00000596512 ENST00000598876 ENST00000600281
    miRNA
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    Block miRNA regulation of human, mouse, rat MAN2B1 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate MAN2B1
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for MAN2B1
    Predesigned siRNA for gene silencing in human, mouse, rat MAN2B1
    Clone
    Products:
         
    OriGene clones in human, mouse for MAN2B1 (see all 11)
    OriGene ORF clones in mouse, rat for MAN2B1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): MAN2B1 (NM_000528)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MAN2B1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MAN2B1
    Primer
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    OriGene qPCR primer pairs and template standards for MAN2B1
    OriGene qSTAR qPCR primer pairs in human, mouse for MAN2B1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MAN2B1
      QuantiTect SYBR Green Assays in human, mouse, rat MAN2B1
      QuantiFast Probe-based Assays in human, mouse, rat MAN2B1

    Additional mRNA sequence: 

    AB209921.1 AK291572.1 BC000736.2 U05572.1 U60266.1 U68567.1 

    Selected DOTS entries (see all 32):

    DT.92445179  DT.101964997  DT.121449200  DT.95077146  DT.95208027  DT.99935391  DT.121449239  DT.95208107 
    DT.121449253  DT.121449392  DT.95208031  DT.75103490  DT.100713340  DT.100889303  DT.100829411  DT.100889286 
    DT.102841523  DT.121449227  DT.121449235  DT.121449240  DT.121449398  DT.121449434  DT.121449456  DT.455210 

    Selected AceView cDNA sequences (see all 96):

    BM680924 BQ446577 CB127193 CD518475 BF981501 BM726317 CA413967 BM746075 
    BQ881554 AK074525 AI864001 AI206616 BM561618 BQ636846 BI857453 BU738580 
    BQ056907 BQ951078 BU633655 BC005870 BU195425 Z41813 BU557788 BQ941919 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MAN2B1 expression in normal human tissues (normalized intensities)      MAN2B1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAAATCCGCA
    MAN2B1 Expression
    About this image


    MAN2B1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 10) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             Atrioventricular Canal Cells Atrioventricular Canal
             Outflow Tract
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Monocytes Peripheral Blood
     
     Thymus (Hematopoietic System)
             Thymus
     
     Bone (Muscoskeletal System)
             Bone Marrow
    MAN2B1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MAN2B1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.356769
        Pathway & Disease-focused RT2 Profiler PCR Array including MAN2B1: 
              Glycosylation in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for MAN2B1
    OriGene qSTAR qPCR primer pairs in human, mouse for MAN2B1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MAN2B1
    QuantiTect SYBR Green Assays in human, mouse, rat MAN2B1
    QuantiFast Probe-based Assays in human, mouse, rat MAN2B1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAN2B1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for MAN2B1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Man2b11 , 5 mannosidase 2, alpha B11, 5 77.59(n)1
    77.32(a)1
      8 (41.55 cM)5
    171591  NM_010764.21  NP_034894.21 
     850832695 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    61(a)
    1 → many
    GL343286.1(578393-604695)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia man2b11 mannosidase, alpha, class 2B, member 1 62.03(n)
    60.86(a)
      779924  NM_001079001.1  NP_001072469.1 
    zebrafish
    (Danio rerio)
    Actinopterygii man2b11 mannosidase, alpha, class 2B, member 1 60.45(n)
    60.77(a)
      541519  NM_001014332.1  NP_001014354.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta BcDNA:GH024193
    LM4081
    alpha-mannosidase3
    Lysosomal alpha-mannosidase1
    45(a)
    (best of 6)3
    53.28(n)1
    48.25(a)1
      31E53
    344371  NM_135564.41  NP_609408.11 
    worm
    (Caenorhabditis elegans)
    Secernentea F55D10.13
    aman-11
    Alpha-mannosidase3
    aman-11
    38(a)3
    47.86(n)1
    40.74(a)1
      X(4768381-4773774)3
    1807491  NM_076410.31  NP_508811.11 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G139801 AT5G13980 48.52(n)
    43.41(a)
      831246  NM_121401.4  NP_196902.2 
    rice
    (Oryza sativa)
    Liliopsida Os11g05256001 Os11g0525600 48.94(n)
    43.07(a)
      4350617  NM_001074525.1  NP_001067993.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MAN2B1 gene
    MAN2B22  MAN2A22  ENSG000002692422  ENSG000002695902  MAN2A12  
    1 SIMAP similar gene for MAN2B1 using alignment to 5 protein entries:     MA2B1_HUMAN (see all proteins):
    MANB

    MAN2B1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MAN2B1 (see all 672)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0680424
    Mannosidosis, alpha B, lysosomal (MANSA)4--see VAR_0680422 R W mis40--------
    VAR_0680404
    Mannosidosis, alpha B, lysosomal (MANSA)4--see VAR_0680402 H N mis40--------
    VAR_0680374
    Mannosidosis, alpha B, lysosomal (MANSA)4--see VAR_0680372 Y H mis40--------
    VAR_0264144
    Mannosidosis, alpha B, lysosomal (MANSA)4--see VAR_0264142 G D mis40--------
    VAR_0680634
    Mannosidosis, alpha B, lysosomal (MANSA)4--see VAR_0680632 G R mis40--------
    VAR_0033484
    Mannosidosis, alpha B, lysosomal (MANSA)4--see VAR_0033482 L P mis40--------
    VAR_0680564
    Mannosidosis, alpha B, lysosomal (MANSA)4--see VAR_0680562 C S mis40--------
    VAR_0680354
    Mannosidosis, alpha B, lysosomal (MANSA)4--see VAR_0680352 D E mis40--------
    VAR_0680394
    Mannosidosis, alpha B, lysosomal (MANSA)4--see VAR_0680392 P R mis40--------
    VAR_0680614
    Mannosidosis, alpha B, lysosomal (MANSA)4--see VAR_0680612 G W mis40--------

    HapMap Linkage Disequilibrium report for MAN2B1 (12757322 - 12777591 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for MAN2B1:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv3733n71CNV Loss21882294
    nsv138389CNV Loss16902084

    Human Gene Mutation Database (HGMD): MAN2B1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MAN2B1
    DNA2.0 Custom Variant and Variant Library Synthesis for MAN2B1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 609458   
    OMIM disorders: 248500  
    UniProtKB/Swiss-Prot: MA2B1_HUMAN, O00754
  • 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. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • Selected diseases for MAN2B1 (see all 23):    About MalaCards
    alpha-mannosidosis, adult form    mannosidosis, alpha-, types i and ii    alpha-mannosidosis, infantile form    alpha-mannosidosis
    beta-mannosidosis    mucolipidosis    dysostosis    lysosomal storage disease
    labyrinthitis    systemic lupus erythematosus    hiv-1    lupus erythematosus
    tuberculosis    mental retardation    multiple sclerosis    tonsillitis
    cerebritis    multiple myeloma    malaria    myeloma

    2 diseases from the University of Copenhagen DISEASES database for MAN2B1:
    alpha-mannosidosis     beta-mannosidosis

    MAN2B1 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for MAN2B1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mannosidosis 84.3 1 16766199 (1)

    Genatlas disease: MAN2B1
    mannosidosis alpha,characterized by progressive mental retardation,hepatosplenomegaly,severe dysostosis multiplex
    and early death,milder forms in juvenile-adult

    GeneTests: MAN2B1
    GeneReviews: MAN2B1
    Genetic Association Database (GAD): MAN2B1
    Human Genome Epidemiology (HuGE) Navigator: MAN2B1 (1 document)

    Export disorders for MAN2B1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for MAN2B1 gene, integrated from 10 sources (see all 75):
    (articles sorted by number of sources associating them with MAN2B1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genomic structure of the human lysosomal alpha-mannosidase gene (MANB). (PubMed id 9192839)1, 2, 9 Riise H.M.F....Ceccherini I. (Genomics 1997)
    2. Missense and nonsense mutations in the lysosomal alpha-mannosidase gene (MANB) in severe and mild forms of alpha-mannosidosis. (PubMed id 9758606)1, 2, 9 Gotoda Y.... Matsumoto T. (Am. J. Hum. Genet. 1998)
    3. Identification and characterization of five novel MAN2B1 mutations in Italian patients with alpha-mannosidosis. (PubMed id 15712269)1, 2, 9 Sbaragli M.... Beccari T. (Hum. Mutat. 2005)
    4. Alpha-mannosidosis: functional cloning of the lysosomal alpha- mannosidase cDNA and identification of a mutation in two affected siblings. (PubMed id 9158146)1, 2, 9 Nilssen O.... Tollersrud O.-K. (Hum. Mol. Genet. 1997)
    5. Cloning, expression, purification, and characterization of the human broad specificity lysosomal acid alpha-mannosidase. (PubMed id 8910458)1, 2, 9 Liao Y.-F.... Moremen K.W. (J. Biol. Chem. 1996)
    6. Spectrum of mutations in alpha-mannosidosis. (PubMed id 9915946)1, 2, 9 Berg T.... Nilssen O. (Am. J. Hum. Genet. 1999)
    7. Partial sequence of the purified protein confirms the identity of cDNA coding for human lysosomal alpha-mannosidase B. (PubMed id 7832746)1, 2, 9 Emiliani C.... Orlacchio A. (Biochem. J. 1995)
    8. Human lysosomal alpha-mannosidase: isolation and nucleotide sequence of the full-length cDNA. (PubMed id 8166692)1, 2, 9 Nebes V.L. and Schmidt M.C. (Biochem. Biophys. Res. Commun. 1994)
    9. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PubMed id 20800603)1, 4 Flachsbart F....Nebel A. (Mutat. Res. 2010)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 4125 HGNC: 6826 AceView: MGC4238 Ensembl:ENSG00000104774 euGenes: HUgn4125
    ECgene: MAN2B1 Kegg: 4125 H-InvDB: MAN2B1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for MAN2B1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=MAN2B1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MAN2B1 gene:
    Search GeneIP for patents involving MAN2B1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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