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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MAN2B2 Gene

protein-coding   GIFtS: 52
GCID: GC04P006509

mannosidase, alpha, class 2B, member 2

 Explore 3 diseases affiliated with
MAN2B2 via our new
 Human Malady Compendium 
Biological research products
for MAN2B2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Mannosidase, Alpha, Class 2B, Member 21 2
KIAA09351 3
EC 3.2.1.243 8
Core-Specific Lysosomal Alpha-1,6-Mannosidase2
Epididymis-Specific Alpha-Mannosidase2
Mannosidase Alpha Class 2B Member 23

External Ids:    HGNC: 296231   Entrez Gene: 233242   Ensembl: ENSG000000132887   UniProtKB: Q9Y2E53   

Export aliases for MAN2B2 gene to outside databases

Previous GC identifers: GC04P006642 GC04P006694 GC04P006627


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

summary for MAN2B2:
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).

Gene Wiki entry for MAN2B2


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NC_018915.1  NT_006051.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MAN2B2 gene promoter:
         Elk-1   AML1a   NCX/Ncx   HTF   Bach2   AP-4   E47   Hand1   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMAN2B2 promoter sequence
   Search SABiosciences Chromatin IP Primers for MAN2B2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MAN2B2


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

Entrez Gene cytogenetic band: 4p16.1   Ensembl cytogenetic band:  4p16.1   HGNC cytogenetic band: 4p16.2

MAN2B2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MAN2B2 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P006509:  view genomic region     (about GC identifiers)

Start:
6,576,902 bp from pter      End:
6,625,089 bp from pter
Size:
48,188 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: MA2B2_HUMAN, Q9Y2E5 (See protein sequence)
Recommended Name: Epididymis-specific alpha-mannosidase precursor  
Size: 1009 amino acids; 113979 Da
Cofactor: Binds 1 zinc ion per subunit (By similarity)
Subcellular location: Secreted (Potential)
Secondary accessions: Q66MP2 Q86T67
Alternative splicing: 2 isoforms:  Q9Y2E5-1   Q9Y2E5-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MAN2B2: NX_Q9Y2E5

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9Y2E5

  • 4/8 DME Specific Peptides for MAN2B2 (Q9Y2E5) (see all 8)
     IRQYFYR  HVLWPWGCD  PKEIRTFFI  RRFIAVEQE 

    MAN2B2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_056089.1  
    ENSEMBL proteins: 
     ENSP00000285599   ENSP00000423129   ENSP00000426273  

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    Browse Proteins at Uscn

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--
    GO:0005764lysosome IEA--


    MAN2B2 for ontologies           About GeneDecksing



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    Browse ELISAs and CLIAs at Uscn


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    MAN2B2 for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR011682 Glyco_hydro_38_C
     IPR015341 Glyco_hydro_38_cen_dom
     IPR000602 Glyco_hydro_38_N
     IPR011013 Gal_mutarotase_SF_dom
     IPR011330 Glyco_hydro/deAcase_b/a-brl

    Graphical View of Domain Structure for InterPro Entry Q9Y2E5

    ProtoNet protein and cluster: Q9Y2E5

    1 Blocks protein family: IPB000602 Glycoside hydrolase

    UniProtKB/Swiss-Prot: MA2B2_HUMAN, Q9Y2E5
    Similarity: Belongs to the glycosyl hydrolase 38 family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: MA2B2_HUMAN, Q9Y2E5
    Catalytic activity: Hydrolysis of terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides

    Enzyme Number (IUBMB): EC 3.2.1.241 2

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    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAN2B2

    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004559alpha-mannosidase activity IEA--
    GO:0005515protein binding ----
    GO:0008270zinc ion binding IEA--
    GO:0030246carbohydrate binding IEA--


    MAN2B2 for ontologies           About GeneDecksing



    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Other glycan degradation
    Other glycan degradation1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways



    1         Kegg Pathway  (Kegg details for MAN2B2):
        Other glycan degradation


    MAN2B2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MAN2B2

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for MAN2B2 (ENSP000002855994) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006013mannose metabolic process IEA--


    MAN2B2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for MAN2B2 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    KifunensineInhibitor of class I alpha-mannosidases[109944-15-2]
    SwainsonineInhibitor of alpha-mannosidase II[72741-87-8]
    1-Deoxymannojirimycin hydrochloridealpha-Mannosidase I inhibitor[84444-90-6]
    Search CenterWatch for drugs/clinical trials and news about MAN2B2 / MA2B2 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for MAN2B2 gene: 
    NM_015274.1  

    Unigene Cluster for MAN2B2:

    Mannosidase, alpha, class 2B, member 2
    Hs.188464  [show with all ESTs]
    Unigene Representative Sequence: AB023152
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000285599(uc003gjf.1 uc011bwf.1) ENST00000504248 ENST00000505907(uc003gje.1)
    ENST00000504960 ENST00000510427

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MAN2B2
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    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MAN2B2 (see all 4)
    OriGene shRNA RFP: MAN2B2
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    Clone
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MAN2B2
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    Additional cDNA sequence: 

    AB023152.2 AK025803.1 AK075246.1 AK301473.1 AL832232.1 AL833071.2 BC033307.1 BC036836.1 
    BC094773.1 

    6 DOTS entries:

    DT.86821188  DT.91746681  DT.75104999  DT.91746888  DT.91746885  DT.95186161 

    24/158 AceView cDNA sequences (see all 158):

    AA936695 AW954107 AW845199 AA368940 AI567643 BQ007851 BM976813 AI582169 
    BM992724 AA915892 BU680307 AI097322 AA770632 AA761757 AI087212 AI268766 
    BU622087 AA150972 BM681476 CA307809 AA464843 BM998728 BU739137 BP873292 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for MAN2B2    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16a · 16b ^ 17 ^ 18a · 18b ^ 19 ^ 20
    SP1:                                                                                -                                               -               
    SP2:                                                                                                                                                
    SP3:                                                                                                                                                


    ECgene alternative splicing isoforms for MAN2B2

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MAN2B2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ACAGCTAACA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See MAN2B2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MAN2B2

    SOURCE GeneReport for Unigene cluster: Hs.188464
        SABiosciences Custom PCR Arrays for MAN2B2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAN2B2

    (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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for MAN2B2 gene from 2/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves MAN2B21 mannosidase, alpha, class 2B, member 2 65.56(n)
    67.07(a)
      422859  XM_420805.3  XP_420805.2 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.23572 Transcribed sequence with moderate similarity to protein more 74.23(n)    CK138883.1 


    ENSEMBL Gene Tree for MAN2B2 (if available)
    TreeFam Gene Tree for MAN2B2 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MAN2B2 gene
    MAN2B12  MAN2A22  MAN2A12  

    MAN2B2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for MAN2B2
         2 CNVs: 32572 2496
    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MAN2B2
    DNA2.0 Custom Variant and Variant Library Synthesis for MAN2B2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    MAN2B2 for disorders           About GeneDecksing

    3 diseases for MAN2B2:    About MalaCards
    mannosidosis    breast cancer    immunodeficiency

    Human Genome Epidemiology (HuGE) Navigator: MAN2B2 (2 documents)

    Export disorders for MAN2B2 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)
    About This Section

    PubMed articles for MAN2B2 gene, integrated from 9 sources (see all 33):
    (articles sorted by number of sources associating them with MAN2B2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10231032)1, 2, 3 Nagase T.... Ohara O. (1999)
    2. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W....Wilson R.K. (2005)
    3. Characterization of a human core-specific lysosomal {alpha}1,6-mannosidase involved in N-glycan catabolism. (PubMed id 16115860)1, 3 Park C....Moremen K.W. (2005)
    4. 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. (2004)
    5. Human lysosomal alpha-mannosidases exhibit different inhibition and metal binding properties. (PubMed id 19722277)1, 9 Venkatesan M....Rose D.R. (2009)
    6. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    7. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    8. Investigation of genetic susceptibility factors for h uman longevity - A targeted nonsynonymous SNP study. (PubMed id 20800603)1 Flachsbart F....Nebel A. (2010)
    9. Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry. (PubMed id 19159218)2 Chen R.... Zou H. (2009)
    10. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    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)
    About This Section
    Entrez Gene: 23324 HGNC: 29623 AceView: MAN2B2 Ensembl:ENSG00000013288 euGenes: HUgn23324
    ECgene: MAN2B2 Kegg: 23324 H-InvDB: MAN2B2

    (According to HUGE)
    About This Section
    HUGE: KIAA0935

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for MAN2B2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for MAN2B2 gene:
    Search GeneIP for patents involving MAN2B2

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    VWF
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    von Willebrand factor
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