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

MANBA Gene

protein-coding   GIFtS: 60
GCID: GC04M103552

Mannosidase, Beta A, Lysosomal

  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, Beta A, Lysosomal1 2     mannanase2
MANB12 3 5     mannase2
Lysosomal Beta A Mannosidase2 3     Mannanase3
EC 3.2.1.253 8     Mannase3
beta-mannosidase2     

External Ids:    HGNC: 68311   Entrez Gene: 41262   Ensembl: ENSG000001093237   OMIM: 6094895   UniProtKB: O004623   

Export aliases for MANBA gene to outside databases

Previous GC identifers: GC04M103951 GC04M104011 GC04M103909 GC04M103771 GC04M099288


(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 MANBA Gene:
This gene encodes a member of the glycosyl hydrolase 2 family. The encoded protein localizes to the lysosome where
it is the final exoglycosidase in the pathway for N-linked glycoprotein oligosaccharide catabolism. Mutations in
this gene are associated with beta-mannosidosis, a lysosomal storage disease that has a wide spectrum of
neurological involvement. (provided by RefSeq, Jul 2008)

GeneCards Summary for MANBA Gene: 
MANBA (mannosidase, beta A, lysosomal) is a protein-coding gene. Diseases associated with MANBA include beta-mannosidosis, and gastric dilatation. GO annotations related to this gene include beta-mannosidase activity and cation binding.

UniProtKB/Swiss-Prot: MANBA_HUMAN, O00462
Function: Exoglycosidase that cleaves the single beta-linked mannose residue from the non-reducing end of all
N-linked glycoprotein oligosaccharides

Gene Wiki entry for MANBA (Beta-mannosidase) 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NT_016354.19  NC_018915.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MANBA gene promoter:
         LHX3b/Lhx3b   p53   Sp1   Nkx2-2   Pax-6   POU3F2   Nkx6-1   Ik-2   SEF-1 (1)   Cart-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMANBA promoter sequence
   Search SABiosciences Chromatin IP Primers for MANBA

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


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

Entrez Gene cytogenetic band: 4q24   Ensembl cytogenetic band:  4q24   HGNC cytogenetic band: 4q24

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

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M103552:  view genomic region     (about GC identifiers)

Start:
103,552,643 bp from pter      End:
103,682,151 bp from pter
Size:
129,509 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: MANBA_HUMAN, O00462 (See protein sequence)
Recommended Name: Beta-mannosidase precursor  
Size: 879 amino acids; 100895 Da
Subcellular location: Lysosome
Secondary accessions: Q96BC3 Q9NYX9

Explore the universe of human proteins at neXtProt for MANBA: NX_O00462

Explore proteomics data for MANBA at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O00462

  • 4/7 DME Specific Peptides for MANBA (O00462) (see all 7)
     KTETEFY  DYVTLYVK  AKVYFRTV  MFACALYPT 

    MANBA Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MANBA Protein Expression
    REFSEQ proteins: NP_005899.3  
    ENSEMBL proteins: 
     ENSP00000226578   ENSP00000427322   ENSP00000422001  

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

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

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

    MANBA for ontologies           About GeneDecksing



    MANBA Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Search for Antibodies for MANBA at Abcam
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    ThermoFisher Antibodies for MANBA
    LSBio Antibodies in human, mouse, rat for MANBA 

    Assay Products for MANBA: 
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    GenScript Custom Assay Services for MANBA
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/6 InterPro protein domains (see all 6):
     IPR017853 Glycoside_hydrolase_SF
     IPR008979 Galactose-bd-like
     IPR013812 Glyco_hydro_2/20_Ig-like
     IPR013781 Glyco_hydro_catalytic_dom
     IPR006103 Glyco_hydro_2_TIM

    Graphical View of Domain Structure for InterPro Entry O00462

    ProtoNet protein and cluster: O00462

    UniProtKB/Swiss-Prot: MANBA_HUMAN, O00462
    Similarity: Belongs to the glycosyl hydrolase 2 family


    MANBA 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: MANBA_HUMAN, O00462
    Function: Exoglycosidase that cleaves the single beta-linked mannose residue from the non-reducing end of all
    N-linked glycoprotein oligosaccharides
    Catalytic activity: Hydrolysis of terminal, non-reducing beta-D-mannose residues in beta-D-mannosides

         Genatlas biochemistry entry for MANBA:
    mannosidase beta A isoform,100kDa,lysosomal,expressed in pancreas,kidney,placenta

         Enzyme Number (IUBMB): EC 3.2.1.251 2

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004553hydrolase activity, hydrolyzing O-glycosyl compounds ----
    GO:0004567beta-mannosidase activity IEA--
    GO:0005537mannose binding IEA--
         
    MANBA for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for MANBA:
     Decreased TP53 protein express 

         11 MGI mutant phenotypes (inferred from 1 allele(MGI details for Manba):
     behavior/neurological  cardiovascular system  cellular  digestive/alimentary  endocrine/exocrine gland 
     hematopoietic system  immune system  liver/biliary system  nervous system  renal/urinary system 
     reproductive system 

    MANBA for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Manbatm1Khf for MANBA

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

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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MANBA
    3 QIAGEN miScript miRNA Assays for microRNAs that regulate MANBA:
    hsa-miR-4297 hsa-miR-181a-2* hsa-miR-1224-5p
    SwitchGear 3'UTR luciferase reporter plasmidMANBA 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for MANBA
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MANBA

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for MANBA
    Sirion Biotech Customized adenovirus for overexpression of MANBA

    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for MANBA (see all 7)
    OriGene ORF clones in mouse, rat for MANBA
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MANBA (NM_005908)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MANBA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MANBA
    Sirion Biotech Customized lentivirus for stable overexpression of MANBA 
                         Customized lentivirus expression plasmids for stable overexpression of MANBA 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for MANBA
    Search LifeMap BioReagents cell lines for MANBA
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MANBA


    (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 MANBA 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 MANBA):
        Other glycan degradation
    Lysosome

    UniProtKB/Swiss-Prot: MANBA_HUMAN, O00462
    Pathway: Glycan metabolism; N-glycan degradation


    MANBA for pathways           About GeneDecksing

    Interactions:

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

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

    1 Interacting protein for MANBA (ENSP000002265784) via UniProtKB, MINT, STRING, and/or I2D

    InteractantInteraction Details
    GeneCardExternal ID(s)
    DNAJC3ENSP000003659914STRING: ENSP00000365991
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process IEA--
    GO:0006464cellular protein modification process NAS9384606
    GO:0006516glycoprotein catabolic process IEA--

    MANBA 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

    MANBA for compounds           About GeneDecksing

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

    Browse Tocris compounds for MANBA

    4 Novoseek inferred chemical compound relationships for MANBA gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mannan 75.4 2 16175204 (1), 17068754 (1)
    mannose 40.4 3 9335173 (1), 19441796 (1)
    polysaccharide 30.2 1 11702407 (1)
    cellulose 23.9 1 16175204 (1)

    Search CenterWatch for drugs/clinical trials and news about MANBA

    (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 MANBA gene: 
    NM_005908.3  

    Unigene Cluster for MANBA:

    Mannosidase, beta A, lysosomal
    Hs.480415  [show with all ESTs]
    Unigene Representative Sequence: NM_005908
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000514430(uc003hwg.3 uc011ces.2) ENST00000226578 ENST00000505239
    ENST00000508141 ENST00000506478 ENST00000511813 ENST00000507358
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MANBA
    3 QIAGEN miScript miRNA Assays for microRNAs that regulate MANBA:
    hsa-miR-4297 hsa-miR-181a-2* hsa-miR-1224-5p
    SwitchGear 3'UTR luciferase reporter plasmidMANBA 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for MANBA
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MANBA
    Clone
    Products:
         
    OriGene clones in human, mouse for MANBA (see all 7)
    OriGene ORF clones in mouse, rat for MANBA
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MANBA (NM_005908)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MANBA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MANBA
    Sirion Biotech Customized lentivirus for stable overexpression of MANBA 
                         Customized lentivirus expression plasmids for stable overexpression of MANBA 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for MANBA
    OriGene qSTAR qPCR primer pairs in human, mouse for MANBA
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat MANBA
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MANBA
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MANBA

    Additional mRNA sequence: 

    AK291598.1 AK300015.1 AK312827.1 BC015743.1 EU009130.1 U60337.1 

    13 DOTS entries:

    DT.211061  DT.86849091  DT.86845965  DT.92039445  DT.95179208  DT.100666605  DT.100717022  DT.101960940 
    DT.121244335  DT.121244346  DT.121244359  DT.86838949  DT.95373098 

    24/79 AceView cDNA sequences (see all 79):

    AW130191 AA582086 U60337 CR596300 BX474024 Z42440 AU132611 AU124517 
    BX283800 CD370027 AI079197 BE167799 BP357245 CD514822 NM_005908 BX389815 
    CK903778 AI688849 AI678583 AW371871 BX443604 BG721746 AI861799 AI655603 

    GeneLoc Exon Structure

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

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


    ECgene alternative splicing isoforms for MANBA

    (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

    MANBA expression in normal human tissues (normalized intensities)      MANBA embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGAAATTATA
    MANBA Expression
    About this image


    MANBA expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/13 selected tissues (see all 13) fully expand
     
     Blood (Respiratory System)    fully expand to see all 4 entries
             monocyte-derived macrophage   
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             heart/atrium   
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 2 entries
             visceral organ   
     
     Neural Crest (Gastrulation Derivatives)
             skeleton/cranium   
     
     Gut Tube (Gastrointestinal Tract)
             Foregut

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

    SOURCE GeneReport for Unigene cluster: Hs.480415
        SABiosciences Expression via Pathway-Focused PCR Arrays including MANBA: 
              Glycosylation in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Primer
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    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MANBA
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MANBA
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MANBA

    (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 animals.

    Orthologs for MANBA gene from 6/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Manba1 , 5 mannosidase, beta A, lysosomal1, 5 77.93(n)1
    75.65(a)1
      3 (62.65 cM)5
    1101731  NM_027288.31  NP_081564.31 
     1354856115 
    chicken
    (Gallus gallus)
    Aves MANBA1 mannosidase, beta A, lysosomal 71.14(n)
    69.11(a)
      422712  XM_420666.2  XP_420666.2 
    African clawed frog
    (Xenopus laevis)
    Amphibia CF287510.12   -- 68.94(n)    CF287510.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc554932 similar to mannosidase, beta A, lysosomal 72.54(n)   393128  BC045360.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG125821 , 3 beta-mannosidase3
    CG125821
    38(a)3
    46.34(n)1
    38.88(a)1
      82A13
    405241  NM_141179.31  NP_649436.21 
    worm
    (Caenorhabditis elegans)
    Secernentea C33G3.41 , 3 beta-mannosidase3
    Protein C33G3.41
    33(a)3
    46.2(n)1
    35.54(a)1
      X(14106424-14111421)3
    1815171  NM_077941.41  NP_510342.11 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (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

    10/2671 SNPs in MANBA are shown (see all 2671)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1896017751,2
    --99288259(+) CTCCCA/TGCCTC 1 -- ds50010--------
    rs606126941,2
    C--99288381(+) AGGCT-/TTGTGT
            
    GTGTG
    1 -- ds50011Minor allele frequency- TTGTGT:0.00NA 2
    rs68131571,2
    C,A,H--99291723(+) CTATGC/AGGTGA 1 -- int15Minor allele frequency- A:0.46NA WA EA 362
    rs2001745091,2
    C--99346634(+) AAAAA-/AATAT 
            
    ATATA
    1 -- int10--------
    rs581603981,2
    C--99346635(+) AAAAA-/A/    
       ATATA
    TATAT
    1 -- int11NA 2
    rs2007220921,2
    --99346636(+) AAAAA-/TATATA 1 -- int10--------
    rs1415163171,2
    C--99366550(+) AAAGA-/AAGG  
            
    AAGGA
    1 -- int10--------
    rs1999977961,2
    C--99366577(+) GAAAAA/GAAAAG 1 -- int10--------
    rs114544381,2
    C--99381824(+) AAAAA-/ATGAGA 1 -- int1 trp31Minor allele frequency- A:0.50NA 2
    rs769883041,2
    C,F--103354524(+) CAATGC/TTTTGC 1 -- ds50013Minor allele frequency- T:0.10CSA WA 122

    HapMap Linkage Disequilibrium report for MANBA (103552643 - 103682151 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for MANBA:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv4444CNV Insertion18451855
    nsv830020CNV Loss17160897
    nsv822674CNV Gain20364138
    dgv889n67CNV Gain20364138


    Human Gene Mutation Database (HGMD): MANBA
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 609489   
    OMIM disorders: 248510  
    UniProtKB/Swiss-Prot: MANBA_HUMAN, O00462
  • Note=Defects in MANBA are the cause of a mild disorder that affects peripheral and central nervous system
    myelin
  • Mannosidosis, beta A, lysosomal (MANSB) [MIM:248510]: An autosomal recessive lysosomal storage disease of
    glycoprotein catabolism. Clinical features are heterogeneous with a wide range of symptoms and age of onset. The
    disease is associated with a range of neurological involvement, including various degrees of mental retardation
    in most of the cases, hearing loss and speech impairment, hypotonia, epilepsy and peripheral neuropathy. Affected
    individuals have a profound reduction in beta A mannosidase activity in plasma, fibroblasts and leukocytes.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 16 diseases for MANBA:    About MalaCards
    beta-mannosidosis    gastric dilatation    alpha-mannosidosis    angiokeratoma
    lysosomal storage disease    fabry disease    peripheral neuropathy    spinocerebellar ataxia
    hypotonia    alcohol dependence    neuropathy    alcoholism
    ataxia    mental retardation    multiple sclerosis    colorectal cancer

    3 diseases from the University of Copenhagen DISEASES database for MANBA:
    beta-mannosidosis     Angiokeratoma     alpha-mannosidosis

    MANBA for disorders           About GeneDecksing

    Genatlas disease: MANBA
    mannosidosis beta,characterized by a range of neurological involvement with mental
    retardation,angiokeratoma,facial dysmorphism,skeletal abnormalities

    Genetic Association Database (GAD): MANBA
    Human Genome Epidemiology (HuGE) Navigator: MANBA (4 documents)

    Export disorders for MANBA 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 MANBA gene, integrated from 9 sources (see all 69):
    (articles sorted by number of sources associating them with MANBA)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. MANBA polymorphism was related to increased risk of colorectal cancer in Swedish but not in Chinese populations. (PubMed id 17899454)1, 4, 9 Gao J....Sun X.F. (2007)
    2. Genetic risk and a primary role for cell-mediated immu ne mechanisms in multiple sclerosis. (PubMed id 21833088)1, 4  ....Compston A. (2011)
    3. A systematic gene-based screen of chr4q22-q32 identif ies association of a novel susceptibility gene, DKK2, with the quantitative tra it of alcohol dependence symptom counts. (PubMed id 20332099)1, 4 Kalsi G....Riley B.P. (2010)
    4. Investigation of genetic susceptibility factors for h uman longevity - A targeted nonsynonymous SNP study. (PubMed id 20800603)1, 4 Flachsbart F....Nebel A. (2010)
    5. Association between genetic variants in VEGF, ERCC3 a nd occupational benzene haematotoxicity. (PubMed id 19773279)1, 4 Hosgood H.D....Lan Q. (2009)
    6. 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)
    7. Human beta-mannosidase cDNA characterization and first identification of a mutation associated with human beta-mannosidosis. (PubMed id 9384606)1, 2 Alkhayat A.H....Friderici K.H. (1998)
    8. Molecular cloning and characterization of bovine beta-mannosidase. (PubMed id 7876128)1, 3 Chen H....Friderici K.H. (1995)
    9. A MANBA mutation resulting in residual beta-mannosida se activity associated with severe leukoencephalopathy: a possible pseudodefici ency variant. (PubMed id 19728872)1, 9 Sabourdy F....Levade T. (2009)
    10. Host-microbe interactions have shaped the genetic arch itecture of inflammatory bowel disease. (PubMed id 23128233)1 Jostins L....Cho J.H. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4126 HGNC: 6831 AceView: MANBA Ensembl:ENSG00000109323 euGenes: HUgn4126
    ECgene: MANBA Kegg: 4126 H-InvDB: MANBA

    (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 MANBA Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MANBA Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MANBA

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

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



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