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

MAN2B1 Gene

protein-coding   GIFtS: 63
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)
About This Section

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

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, and alpha-mannosidosis, adult form. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NT_011295.11  NC_018930.2  
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 plasmidMAN2B1 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: 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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; 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:

  • UniProtKB: 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
  • UniProtKB: Heavily glycosylated
  • View modification sites using PhosphoSitePlus
  • 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 MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MAN2B1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_000519.2  NP_001166969.1  

    ENSEMBL proteins: 
     ENSP00000395473   ENSP00000221363   ENSP00000469456   ENSP00000471685   ENSP00000470174  
     ENSP00000470533  

    Human Recombinant Protein Products for MAN2B1: 
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    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 

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

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

    MAN2B1 for ontologies           About GeneDecksing



    MAN2B1 Antibody Products: 
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    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)
    About This Section
    5/7 InterPro protein domains (see all 7):
     IPR027291 Glyco_hydro_38/57_N
     IPR011682 Glyco_hydro_38_C
     IPR015341 Glyco_hydro_38_cen_dom
     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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004553hydrolase activity, hydrolyzing O-glycosyl compounds ----
    GO:0004559alpha-mannosidase activity IEA--
    GO:0005537mannose binding ----
    GO:0008270zinc ion binding IEA--
         
    MAN2B1 for ontologies           About GeneDecksing


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

         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

    Animal Models:
         MGI mouse knock-out Man2b1tm1Psa for MAN2B1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for MAN2B1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for MAN2B1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MAN2B1 
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAN2B1


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    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

    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): 5 biological process terms (GO ID links to tree view):    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
    GO:0007611learning or memory ----

    MAN2B1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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]
    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)

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

    (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,
    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, Sirion Biotech, 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
    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
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MAN2B1
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    GenScript: all cDNA clones in your preferred vector (see all 2): MAN2B1 (NM_000528)
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MAN2B1
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    Additional mRNA 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):

    BC005870 BQ636846 BQ941919 BU557788 AK074525 BU738580 AI206616 AI864001 
    BM680924 CB143206 BQ881554 BM726317 BM746075 Z41813 BI857453 BE887549 
    BU195425 BQ951078 BU633655 BQ446577 BM561618 BQ056907 NM_032332 CA413967 

    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™, 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)      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 
     5/39 selected tissues (see all 39) fully expand
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Blood (Hematopoietic System)    fully expand to see all 5 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             lung ; macrophages   
             mouse/organ system/cardiovascular system   
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Cerebral Cortex
             brain/forebrain/telencephalon   
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Heart (Cardiovascular System)    fully expand to see all 4 entries
             Atrioventricular Canal Cells Atrioventricular Canal
             Outflow Tract
             heart muscle ; myocytes   
             mouse/organ system/cardiovascular system   

    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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    QIAGEN 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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for MAN2B1 gene from 7/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Man2b11 , 5 mannosidase 2, alpha B11, 5 76.84(n)1
    75.84(a)1
      8 (41.55 cM)5
    171591  NM_010764.21  NP_034894.21 
     850832695 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    61(a)
    1 → many
    GL343286.1(578393-604695)
    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 according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    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) 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

    10/672 SNPs in MAN2B1 are shown (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
    SABiosciences Cancer Mutation 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.)
    About This Section
    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

  • 12 diseases for MAN2B1:    About MalaCards
    alpha-mannosidosis    alpha-mannosidosis, adult form    alpha-mannosidosis, infantile form    mannosidosis, alpha-, types i and ii
    beta-mannosidosis    mucolipidosis    dysostosis    lysosomal storage disease
    mental retardation    systemic lupus erythematosus    lupus erythematosus    tuberculosis

    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)
    About This Section

    PubMed articles for MAN2B1 gene, integrated from 9 sources (see all 73):
    (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. Investigation of genetic susceptibility factors for h uman longevity - A targeted nonsynonymous SNP study. (PubMed id 20800603)1, 4 Flachsbart F....Nebel A. (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. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 4125 HGNC: 6826 AceView: MGC4238 Ensembl:ENSG00000104774 euGenes: HUgn4125
    ECgene: MAN2B1 Kegg: 4125 H-InvDB: MAN2B1

    (According to HUGE)
    About This Section
      --

    (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

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



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