Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



MANBA Gene

protein-coding   GIFtS: 61
GCID: GC04M103552

Mannosidase, Beta A, Lysosomal

  See MANBA-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

TryGeneCards Plus

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

TryGeneCards Plus

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 alpha-mannosidosis. GO annotations related to this gene include beta-mannosidase activity and mannose 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000004.12  NC_018915.2  NT_016354.20  
Regulatory elements:
   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 Chromatin IP Primers for MANBA

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: MANBA_HUMAN, O00462 (See protein sequence)
Recommended Name: Beta-mannosidase precursor  
Size: 879 amino acids; 100895 Da
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: 

  • Glycosylation2 at Asn28, Asn35, Asn77, Asn280, Asn284, Asn297, Asn302, Asn763
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for MANBA (O00462) (see all 7)
     KTETEFY  DYVTLYVK  AKVYFRTV  MFACALYPT 


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

    REFSEQ proteins: NP_005899.3  
    ENSEMBL proteins: 
     ENSP00000226578   ENSP00000427322   ENSP00000422001  

    MANBA Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    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.

     
    Search eBioscience for Proteins for MANBA 

    MANBA Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of MANBA
    Browse R&D Systems for Antibodies
    OriGene Antibodies for MANBA
    OriGene Custom Antibody Services for MANBA
    Novus Biologicals MANBA Antibodies
    Search for Antibodies for MANBA at Abcam
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibodies for MANBA
    LSBio Antibodies in human, mouse, rat for MANBA

    MANBA Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for MANBA
    Browse R&D Systems for biochemical assays
    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.
    Search eBioscience for ELISAs for MANBA 


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

    TryGeneCards Plus
    Selected InterPro protein domains (see all 8):
     IPR017853 Glycoside_hydrolase_SF
     IPR028369 Mannanase
     IPR008979 Galactose-bd-like
     IPR013812 Glyco_hydro_2/20_Ig-like
     IPR013781 Glyco_hydro_catalytic_dom

    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


    Find genes that share domains with MANBA           About GenesLikeMe


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

    TryGeneCards Plus

    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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004553hydrolase activity, hydrolyzing O-glycosyl compounds ----
    GO:0004567beta-mannosidase activity IEA--
    GO:0005537mannose binding IEA--
         
    Find genes that share ontologies with MANBA           About GenesLikeMe


    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 

    Find genes that share phenotypes with MANBA           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Manbatm1Khf for MANBA

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MANBA
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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
    Products:
        
    miRTarBase miRNAs that target MANBA:
    hsa-mir-335-5p (MIRT017002)

    Block miRNA regulation of human, mouse, rat MANBA using miScript Target Protectors
    3 qRT-PCR 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:
        
    OriGene RNAi products in human, mouse, rat for MANBA
    Predesigned siRNA for gene silencing in human, mouse, rat MANBA

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

    Clone
    Products:
         
    OriGene clones in human, mouse for MANBA (see all 6)
    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

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

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MANBA


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    MANBA_HUMAN, O00462: Lysosome
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    lysosome5
    vacuole5
    extracellular2
    endoplasmic reticulum1
    peroxisome1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005764lysosome IEA--
    GO:0043231intracellular membrane-bounded organelle IDA--

    Find genes that share ontologies with MANBA           About GenesLikeMe


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

    TryGeneCards Plus

    SuperPaths for MANBA About    
    See pathways by source

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


    Find genes that share SuperPaths with MANBA           About GenesLikeMe

    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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including MANBA: 

              Glycosylation in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network 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): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process ----
    GO:0006464cellular protein modification process NAS9384606
    GO:0006516glycoprotein catabolic process IEA--
    GO:0046355mannan catabolic process IEA--

    Find genes that share ontologies with MANBA           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

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

    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)



    Find genes that share compounds with MANBA           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

    TryGeneCards Plus

    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:
         
    Block miRNA regulation of human, mouse, rat MANBA using miScript Target Protectors
    3 qRT-PCR 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:
         
    OriGene RNAi products in human, mouse, rat for MANBA
    Predesigned siRNA for gene silencing in human, mouse, rat MANBA
    Clone
    Products:
         
    OriGene clones in human, mouse for MANBA (see all 6)
    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
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for MANBA
    OriGene qSTAR qPCR primer pairs in human, mouse for MANBA
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MANBA
      QuantiTect SYBR Green Assays in human, mouse, rat MANBA
      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 

    Selected AceView cDNA sequences (see all 79):

    Z42440 BX474024 AW130191 CD514822 BP357245 BX283800 BE167799 AI079197 
    AU132611 AA582086 AU124517 CR596300 U60337 NM_005908 CD370027 AI783984 
    BI964151 AI688849 BF940213 AA985442 BE409701 BX389814 AI678583 BM762375 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    MANBA expression in normal human tissues (normalized intensities)
    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
     
     Kidney (Urinary System)
             Metanephros
    MANBA Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MANBA Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.480415
        Pathway & Disease-focused RT2 Profiler PCR Arrays including MANBA: 
              Glycosylation in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for MANBA
    OriGene qSTAR qPCR primer pairs in human, mouse for MANBA
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MANBA
    QuantiTect SYBR Green Assays in human, mouse, rat MANBA
    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

    TryGeneCards Plus

    This gene was present in the common ancestor of animals.

    Orthologs for MANBA gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Manba1 , 5 mannosidase, beta A, lysosomal1, 5 78.1(n)1
    75.75(a)1
      3 (62.65 cM)5
    1101731  NM_027288.31  NP_081564.31 
     1354856115 
    chicken
    (Gallus gallus)
    Aves MANBA1 mannosidase, beta A, lysosomal 71.6(n)
    70.14(a)
      422712  XM_420666.3  XP_420666.3 
    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
    46.64(n)1
    39.07(a)1
      82A13
    405241  NM_141179.41  NP_649436.21 
    worm
    (Caenorhabditis elegans)
    Secernentea C33G3.41 , 3 beta-mannosidase3
    C33G3.41
    33(a)3
    46.75(n)1
    36.3(a)1
      X(14106424-14111421)3
    1815171  NM_077941.51  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

    TryGeneCards Plus
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for MANBA (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
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MANBA
    DNA2.0 Custom Variant and Variant Library Synthesis for MANBA

    (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

    TryGeneCards Plus
    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

  • 3 diseases for MANBA:    
    About MalaCards
    beta-mannosidosis    alpha-mannosidosis    angiokeratoma

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

    Find genes that share disorders with MANBA           About GenesLikeMe

    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

    TryGeneCards Plus

    PubMed articles for MANBA gene, integrated from 10 sources (see all 71):
    (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. (Acta Oncol 2008)
    2. Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. (PubMed id 21833088)1, 4  ....Compston A. (Nature 2011)
    3. A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts. (PubMed id 20332099)1, 4 Kalsi G....Riley B.P. (Hum. Mol. Genet. 2010)
    4. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PubMed id 20800603)1, 4 Flachsbart F....Nebel A. (Mutat. Res. 2010)
    5. Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity. (PubMed id 19773279)1, 4 Hosgood H.D....Lan Q. (Occup Environ Med 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. (Genome Res. 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. (Hum. Mol. Genet. 1998)
    8. Molecular cloning and characterization of bovine beta-mannosidase. (PubMed id 7876128)1, 3 Chen H....Friderici K.H. (J. Biol. Chem. 1995)
    9. A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant. (PubMed id 19728872)1, 9 Sabourdy F....Levade T. (BMC Med. Genet. 2009)
    10. Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. (PubMed id 23128233)1 Jostins L....Cho J.H. (Nature 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     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

    TryGeneCards Plus
    Entrez Gene: 4126 HGNC: 6831 AceView: MANBA Ensembl:ENSG00000109323 euGenes: HUgn4126
    ECgene: MANBA Kegg: 4126 H-InvDB: MANBA

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    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/books/NBK1116/?term=MANBA[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     EMD Millipore Mono- and Polyclonal Antibodies for the study of MANBA
     Browse Small Molecules at EMD Millipore
     Browse Kits and Assays available from EMD Millipore
     Browse Purified and Recombinant Proteins at EMD Millipore
     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for MANBA   OriGene RNAi products in human, mouse, rat for MANBA  
     OriGene qPCR primer pairs and template standards for MANBA   OriGene Protein Over-expression Lysate for MANBA  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for MANBA  
     OriGene qSTAR qPCR primer pairs in human, mouse for MANBA   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for MANBA   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for MANBA   OriGene Custom Protein Services for MANBA  

     
     
     Block miRNA regulation of human, mouse, rat MANBA using miScript Target Protectors SeqTarget long-range PCR primers for resequencing MANBA
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MANBA Predesigned siRNA for gene silencing in human, mouse, rat MANBA
     QuantiFast Probe-based Assays in human, mouse, rat MANBA QuantiTect SYBR Green Assays in human, mouse, rat MANBA
     PCR Arrays including human, mouse, rat MANBA Search Chromatin IP Primers for MANBA
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MANBA  Search GeneGlobe Interaction Network for MANBA
     Regulatory tfbs in MANBA promoter
     GenScript Custom Purified and Recombinant Proteins Services for MANBA GenScript cDNA clones with any tag delivered in your preferred vector for MANBA
     GenScript Custom Assay Services for MANBA GenScript Custom overexpressing Cell Line Services for MANBA
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for MANBA
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     MANBA antibodies
     MANBA proteins
     MANBA lysates
     Search for Antibodies for MANBA at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for MANBA
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Browse Proteins at Cloud-Clone Corp.
     Browse Antibodies at Cloud-Clone Corp.
     Browse ELISAs at Cloud-Clone Corp.
     Browse CLIAs at Cloud-Clone Corp.



     Browse ESI BIO Cell Lines and PureStem Progenitors for MANBA
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MANBA
     SwitchGear 3'UTR luciferase reporter plasmids for MANBA
     SwitchGear Promoter luciferase reporter plasmids for MANBA
     ThermoFisher Antibodies for MANBA
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MANBA
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MANBA
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for MANBA
     LSBio Antibodies in human, mouse, rat for MANBA
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
     Search Addgene for plasmids for MANBA
      Search eBioscience for proteins for MANBA
      Search eBioscience for elisas for MANBA
      eBioscience FlowRNA Probe Sets
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      MANBA gene at Home site.
    Version: 3.12.202 14 Sep 2014
    hostname: 356977-web1.xennexinc.com index build: 128 solr: 1.4