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

MAN2B1 Gene

protein-coding   GIFtS: 62
GCID: GC19M012757

mannosidase, alpha, class 2B, member 1


(Previous symbol: MANB)
 Explore 13 diseases affiliated with
MAN2B1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for MAN2B1    

Aliases
for MAN2B1 gene

(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 11 2     Lysosomal Alpha-Mannosidase2
MANB1 2 3 5     Mannosidase, Alpha B, Lysosomal2
LAMAN1 2 3     Laman3
Lysosomal Acid Alpha-Mannosidase2 3     Mannosidase Alpha Class 2B Member 13
Mannosidase Alpha-B2 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


Summaries
for MAN2B1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for MAN2B1:
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)

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:
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).




Genomic Views
for MAN2B1 gene

(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_000019.9  NC_018930.1  NT_011295.11  
Regulatory elements:
   SABiosciences 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 plasmid: MAN2B1 promoter sequence
   Search SABiosciences Chromatin IP Primers for MAN2B1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MAN2B1


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

Entrez Gene cytogenetic band: 19cen-q13.1   Ensembl cytogenetic band:  19p13.2   HGNC cytogenetic band: 19cen-q13.1

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

Proteins
for MAN2B1 gene

(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: 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)
Subcellular location: Lysosome
Sequence caution: Sequence=AAB03816.1; Type=Erroneous initiation; Sequence=AAC50812.1; Type=Erroneous initiation;
Secondary accessions: O15330 Q16680 Q93094 Q9BW13

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

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
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O00754

    • 4/25 DME Specific Peptides for MAN2B1 (O00754) (see all 25)
     RHLELEW  LNISICP  IDPFGHS  RIYITDG 

    MAN2B1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000395473   ENSP00000221363   ENSP00000390583  

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    OriGene Protein Over-expression Lysate: MAN2B1
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    Novus Biologicals MAN2B1 Protein
    Novus Biologicals MAN2B1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for MAN2B1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005625soluble fraction ----
    GO:0005764lysosome IEA--


    MAN2B1 for ontologies           About GeneDecksing



    MAN2B1 Antibody Products: 
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    Uscn Antibodies for MAN2B1
    Search ThermoFisher Antibodies for MAN2B1

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    Uscn ELISAs and CLIAs for MAN2B1

    Protein Domains /
    Families
    for MAN2B1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    MAN2B1 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 O00754

    ProtoNet protein and cluster: O00754

    1 Blocks protein family: IPB000602 Glycoside hydrolase

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


    Function
    for MAN2B1 gene

    (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: 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

    miRNA
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    Inhib. RNA
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    OriGene shRNA RFP: MAN2B1
    OriGene siRNA: MAN2B1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MAN2B1

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

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MAN2B1 (see all 4)
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    Cell Line
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    Search LifeMap BioReagents cell lines for MAN2B1

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAN2B1

    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:0005537mannose binding ----
    GO:0008270zinc ion binding IEA--
    GO:0030246carbohydrate binding IEA--


    MAN2B1 for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-out Man2b1tm1Psa for MAN2B1
         15/16 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  hearing/vestibular/ear  hematopoietic system  homeostasis/metabolism  immune system 
     liver/biliary system  muscle  nervous system  renal/urinary system  skeleton 

    MAN2B1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for MAN2B1 gene

    (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
    2Lysosome
    		Lysosome1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways



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


    MAN2B1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MAN2B1

    4 Interacting proteins for MAN2B1 (O007542, 3) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BTKQ061873I2D: score=2 
    SMAD9O151983I2D: score=1 
    --P031072MINT-72634 MINT-72632
    --P040132MINT-72633
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006013mannose metabolic process IEA--
    GO:0006464cellular protein modification process IDA8910458
    GO:0006517protein deglycosylation TAS8910458
    GO:0007611learning or memory ----


    MAN2B1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for MAN2B1 gene

    (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

    MAN2B1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Enzo Life Sciences drugs & compounds for MAN2B1

    Compounds for MAN2B1 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]
    4 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about MAN2B1 / MA2B1 

    Transcripts
    for MAN2B1 gene

    (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 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
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000469423 ENST00000480851 ENST00000493218 ENST00000456935(uc010dyv.1 uc002mub.2)
    ENST00000221363 ENST00000466794 ENST00000433513 ENST00000495617 ENST00000465830
    ENST00000462144 ENST00000486847

    miRNA
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    Browse SwitchGear 3'UTR luciferase reporter plasmids
    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 MAN2B1 (see all 7)
    OriGene shRNA RFP: MAN2B1
    OriGene siRNA: MAN2B1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MAN2B1
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MAN2B1 (see all 4)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MAN2B1 (see all 2)
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    GenScript: all cDNA clones in your preferred vector (see all 2): MAN2B1 (NM_000528)
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MAN2B1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MAN2B1

    Additional cDNA sequence: 

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

    24/32 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 

    24/96 AceView cDNA sequences (see all 96):

    BU195425 CD518475 BM680924 CB127193 BQ636846 Z41813 BU557788 BU633655 
    BQ881554 BM561618 BQ056907 BQ941919 BM746075 CA413967 BC005870 CR602746 
    BQ951078 NM_032332 BQ446577 BF981501 BU738580 AK074525 CB143206 AI864001 

    GeneLoc Exon Structure


    Expression
    for MAN2B1 gene

    (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

    MAN2B1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GAAATCCGCA

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

    MAN2B1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    HeartAtrioventricular CanalAtrioventricular Canal CellsMyocardium
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See MAN2B1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MAN2B1

    SOURCE GeneReport for Unigene cluster: Hs.356769
        SABiosciences Expression via Pathway-Focused PCR Array including MAN2B1: 
              Glycosylation in human mouse rat

    Primer
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAN2B1

    Orthologs
    for MAN2B1 gene

    (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 eukaryotes.

    Orthologs for MAN2B1 gene from 6/23 species (see all 23)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    lizard
    (Anolis carolinensis)    		 Reptilia MAN2B16
    		 --
    		 63(a)
    		 1 → many
    		 GL343286.1(582927-605453)
    zebrafish
    (Danio rerio)    		 Actinopterygii zgc:1108151 zgc:110815 60.26(n)
    60.3(a)    		   541519  NM_001014332.1  NP_001014354.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta BcDNA:GH024193
    CG62061    		 alpha-mannosidase3
    CG62061    		 45(a)
    (best of 6)3
    53.3(n)1
    48.3(a)1    		   31E53
    344371  NM_135564.31  NP_609408.11 
    worm
    (Caenorhabditis elegans)    		 Secernentea F55D10.13
    aman-11    		 Alpha-mannosidase3
    Protein AMAN-11    		 38(a)3
    47.86(n)1
    40.58(a)1    		   X(4768381-4773774)3
    1807491  NM_076410.21  NP_508811.11 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT5G139801 Glycosyl hydrolase family 38 protein 48.13(n)
    42.92(a)    		   831246  NM_180706.2  NP_851037.2 
    rice
    (Oryza sativa)    		 Liliopsida Os11g05256001 hypothetical protein 49.19(n)
    43.55(a)    		   4350617  NM_001074525.1  NP_001067993.1 


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

    Paralogs
    for MAN2B1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MAN2B1 gene
    MAN2B22  MAN2A22  MAN2A12  
    1 SIMAP similar gene for MAN2B1 using alignment to 6 protein entries:     MA2B1_HUMAN (see all proteins):
    MANB

    MAN2B1 for paralogs           About GeneDecksing



    Genomic Variants
    for MAN2B1 gene

    (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

    10/438 NCBI SNPs in MAN2B1 are shown (see all 438)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 19 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs803386801,2
    		C,pathogenic12760746(-) ATGGCC/TGGGAG 4 R W mis10--------
    rs803386771,2
    		Cpathogenic12766507(-) ATGAGC/GTGAGA 2 -- spd10--------
    rs360183121,2
    		C--12333248(+) CACTC-/TTTTTT 1 -- int11Minor allele frequency- T:0.00NA 2
    rs355325331,2
    		C--12334127(+) AATTC-/TTTTTT 1 -- int11Minor allele frequency- T:0.00NA 2
    rs342464671,2
    		C,F--12348748(+) TGCCAG/AGCCAC 2 -- us2k13Minor allele frequency- A:0.03NA 74
    rs360379531,2
    		F--12348882(+) CTCCAG/AGCGCC 2 -- us2k11Minor allele frequency- A:0.05NA 64
    rs1137463811,2
    		C--12349710(+) TGTCTC/GCACAG 2 -- us2k11Minor allele frequency- G:0.00CSA 1
    rs13766441,2
    		C--12349999(+) GGAGGT/GGGGGT 2 -- us2k11Minor allele frequency- G:0.00NA 2
    rs13766451,2
    		C--12350179(+) GCCACC/GTCCTG 2 -- us2k10--------
    rs15601621,2
    		C--12351622(-) TCAGCC/GTGCCA 3 -- us2k1 int10--------

    HapMap Linkage Disequilibrium report for MAN2B1 (12757322 - 12777591 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for MAN2B1
         1 Indel: 12017
    Human Gene Mutation Database (HGMD): MAN2B1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MAN2B1
    DNA2.0 Custom Variant and Variant Library Synthesis for MAN2B1

    Disorders / Diseases
    for MAN2B1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    MAN2B1 for disorders           About GeneDecksing

    OMIM gene information: 609458   
    OMIM disorders: 248500  
    UniProtKB/Swiss-Prot: MA2B1_HUMAN, O00754
  • Defects in MAN2B1 are the cause of 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

    13 diseases for MAN2B1:    About MalaCards
    alpha-mannosidosis    mannosidosis    mannosidosis, alpha-, types i and ii    lysosomal storage disease
    mannosidase deficiency disease    systemic lupus erythematosus    lupus erythematosus    mucolipidosis
    dysostosis    tuberculosis    immunodeficiency    neuronitis
    mycobacterium tuberculosis

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

    1 Novoseek 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
    Alpha-Mannosidosis

    Human Genome Epidemiology (HuGE) Navigator: MAN2B1 (1 document)

    Export disorders for MAN2B1 gene to outside databases

    Publications
    for MAN2B1 gene

    (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 MAN2B1 gene, integrated from 9 sources (see all 71):
    (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. (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. (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. (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. (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. (1996)
    6. Spectrum of mutations in alpha-mannosidosis. (PubMed id 9915946)1, 2, 9 Berg T.... Nilssen O. (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. (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. (1994)
    9. 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)
    10. Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry. (PubMed id 12754519)1, 2 Zhang H.... Aebersold R. (2003)

    External Searches for MAN2B1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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    Genome Databases showing MAN2B1 gene

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

    Other Databases showing MAN2B1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing MAN2B1 gene

    (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 MAN2B1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MAN2B1

    Intellectual Property
    for MAN2B1 gene

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

    GeneCards and IP:
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