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MAN2A1 Gene

protein-coding   GIFtS: 66
GCID: GC05P109053

Mannosidase, Alpha, Class 2A, Member 1


(Previous symbol: MANA2)
  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)
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Aliases
Mannosidase, Alpha, Class 2A, Member 11 2     GOLIM72
MANA21 2 3 5     MANII2
Golgi Integral Membrane Protein 71 2     Alpha-Mannosidase 22
Mannosyl-Oligosaccharide 1,3-1,6-Alpha-Mannosidase2 3     Mannosidase, Alpha Type II2
AMan II2 3     Man II3
Golgi Alpha-Mannosidase II2 3     Mannosidase Alpha Class 2A Member 13
EC 3.2.1.1143 8     EC 3.2.18

External Ids:    HGNC: 68241   Entrez Gene: 41242   Ensembl: ENSG000001128937   OMIM: 1545825   UniProtKB: Q167063   

Export aliases for MAN2A1 gene to outside databases

Previous GC identifers: GC05P108644 GC05P109467 GC05P109056 GC05P109101 GC05P104197


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for MAN2A1 Gene:
This gene encodes a glycosyl hydrolase that localizes to the Golgi and catalyzes the final hydrolytic step in the
asparagine-linked oligosaccharide (N-glycan) maturation pathway. Mutations in the mouse homolog of this gene have
been shown to cause a systemic autoimmune disease similar to human systemic lupus erythematosus. (provided by
RefSeq, Dec 2013)

GeneCards Summary for MAN2A1 Gene:
MAN2A1 (mannosidase, alpha, class 2A, member 1) is a protein-coding gene. Diseases associated with MAN2A1 include alpha-mannosidosis, and congenital disorder of glycosylation type ii. GO annotations related to this gene include carbohydrate binding and mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity. An important paralog of this gene is MAN2B1.

UniProtKB/Swiss-Prot: MA2A1_HUMAN, Q16706
Function: Catalyzes the first committed step in the biosynthesis of complex N-glycans. It controls conversion of
high mannose to complex N-glycans; the final hydrolytic step in the N-glycan maturation pathway

summary for MAN2A1 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).

Gene Wiki entry for MAN2A1 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)
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RefSeq DNA sequence:
NC_000005.10  NT_034772.7  NC_018916.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MAN2A1 gene promoter:
         TBP   IRF-1   E47   Arnt   AREB6   MZF-1   E2F   E2F-1   TFIID   En-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMAN2A1 promoter sequence
   Search Chromatin IP Primers for MAN2A1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MAN2A1


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

Entrez Gene cytogenetic band: 5q21.3   Ensembl cytogenetic band:  5q21.3   HGNC cytogenetic band: 5q21.3

MAN2A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MAN2A1 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P109053:  view genomic region     (about GC identifiers)

Start:
109,025,067 bp from pter      End:
109,205,326 bp from pter
Size:
180,260 bases      Orientation:
plus 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: MA2A1_HUMAN, Q16706 (See protein sequence)
Recommended Name: Alpha-mannosidase 2  
Size: 1144 amino acids; 131141 Da
Cofactor: Binds 1 zinc ion per subunit (By similarity)
Subunit: Homodimer; disulfide-linked (By similarity)
Secondary accessions: Q16767

Explore the universe of human proteins at neXtProt for MAN2A1: NX_Q16706

Explore proteomics data for MAN2A1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn78, Asn93, Ser105, Asn1125
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for MAN2A1 (Q16706) (see all 11)
     IDPFGHS  TSRPFYK  KLPLQAN  SGAYLFLP 


    See MAN2A1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_002363.2  
    ENSEMBL proteins: 
     ENSP00000261483  
    Reactome Protein details: Q16706

    MAN2A1 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for MAN2A1
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    Novus Biologicals MAN2A1 Protein
    Novus Biologicals MAN2A1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MAN2A1

    MAN2A1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of MAN2A1
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    Abcam antibodies for MAN2A1
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    ThermoFisher Antibodies for MAN2A1
    LSBio Antibodies in human, mouse, rat for MAN2A1

    MAN2A1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for MAN2A1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for MAN2A1
    Cloud-Clone Corp. CLIAs for MAN2A1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 7):
     IPR027291 Glyco_hydro_38/57_N
     IPR011682 Glyco_hydro_38_C
     IPR015341 Glyco_hydro_38_cen
     IPR000602 Glyco_hydro_38_N
     IPR011013 Gal_mutarotase_SF_dom

    Graphical View of Domain Structure for InterPro Entry Q16706

    ProtoNet protein and cluster: Q16706

    1 Blocks protein domain: IPB000602 Glycoside hydrolase

    UniProtKB/Swiss-Prot: MA2A1_HUMAN, Q16706
    Similarity: Belongs to the glycosyl hydrolase 38 family


    MAN2A1 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MA2A1_HUMAN, Q16706
    Function: Catalyzes the first committed step in the biosynthesis of complex N-glycans. It controls conversion of
    high mannose to complex N-glycans; the final hydrolytic step in the N-glycan maturation pathway
    Catalytic activity: Hydrolysis of the terminal (1->3)- and (1->6)-linked alpha-D-mannose residues in the
    mannosyl-oligosaccharide Man(5)(GlcNAc)(3)

         Genatlas biochemistry entry for MAN2A1:
    Golgi alpha-mannosidase,class 2A,member 1,membrane type,involved in the processing of newly synthesized N-glycans
    mainly expressed in erythroid cells, hepatic tissue

         Enzyme Numbers (IUBMB): EC 3.2.1.1141 2 EC 3.2.12

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004553hydrolase activity, hydrolyzing O-glycosyl compounds ----
    GO:0004559alpha-mannosidase activity ----
    GO:0004572mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity IEA--
    GO:0008270zinc ion binding IEA--
         
    MAN2A1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for MAN2A1:
     Increased HDAC inhibitor resis  Increased gamma-H2AX phosphory 

         11 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Man2a1):
     cellular  growth/size/body  hematopoietic system  homeostasis/metabolism  immune system 
     integument  liver/biliary system  mortality/aging  no phenotypic analysis  renal/urinary system 
     respiratory system 

    MAN2A1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Man2a1tm1Jxm for MAN2A1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MAN2A1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for MAN2A1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MAN2A1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MAN2A1

    miRNA
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    miRTarBase miRNAs that target MAN2A1:
    hsa-mir-124-3p (MIRT002612), hsa-mir-149-5p (MIRT045458), hsa-mir-320a (MIRT044543)

    Block miRNA regulation of human, mouse, rat MAN2A1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MAN2A1 (see all 24):
    hsa-miR-137 hsa-miR-128 hsa-miR-25 hsa-miR-218 hsa-miR-1297 hsa-miR-649 hsa-miR-4325 hsa-miR-3119
    SwitchGear 3'UTR luciferase reporter plasmidMAN2A1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for MAN2A1
    Predesigned siRNA for gene silencing in human, mouse, rat MAN2A1

    Gene Editing
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    Clone
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    OriGene clones in human, mouse for MAN2A1 (see all 6)
    OriGene ORF clones in mouse, rat for MAN2A1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MAN2A1 (NM_002372)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MAN2A1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MAN2A1

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for MAN2A1 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAN2A1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MA2A1_HUMAN, Q16706: Golgi apparatus membrane; Single-pass type II membrane protein (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    cytosol3
    plasma membrane2
    endoplasmic reticulum1
    extracellular1
    peroxisome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0005794Golgi apparatus ----
    GO:0016021integral component of membrane IEA--
    GO:0070062extracellular vesicular exosome IDA19056867

    MAN2A1 for ontologies           About GeneDecksing


    (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).
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    SuperPaths for MAN2A1 About    
    See pathways by source

    SuperPathContained pathways About
    1Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Asparagine N-linked glycosylation0.49
    Metabolism of proteins0.30
    N-Glycan biosynthesis0.49
    N-glycan antennae elongation in the medial/trans-Golgi0.00
    Post-translational protein modification0.43
    Reactions specific to the complex N-glycan synthesis pathway0.00
    Transport to the Golgi and subsequent modification0.40
    2Metabolism
    Metabolic pathways0.38

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for MAN2A1
        Reactions specific to the complex N-glycan synthesis pathway


    2 Kegg Pathways  (Kegg details for MAN2A1):
        N-Glycan biosynthesis
    Metabolic pathways

    UniProtKB/Swiss-Prot: MA2A1_HUMAN, Q16706
    Pathway: Protein modification; protein glycosylation


    MAN2A1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including MAN2A1: 

              Glycosylation in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for MAN2A1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    Selected Interacting proteins for MAN2A1 (Q167062 ENSP000002614834) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MGAT1ENSP000003118884STRING: ENSP00000311888
    MGAT2ENSP000003074234STRING: ENSP00000307423
    POLR1CENSP000003614654STRING: ENSP00000361465
    POLR2CENSP000002192524STRING: ENSP00000219252
    MBTPS1ENSP000003442234STRING: ENSP00000344223
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001701in utero embryonic development IEA--
    GO:0001889liver development IEA--
    GO:0005975carbohydrate metabolic process ----
    GO:0006013mannose metabolic process IEA--
    GO:0006491N-glycan processing IEA--

    MAN2A1 for ontologies           About GeneDecksing



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

    Compounds for MAN2A1 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]

    2 HMDB Compounds for MAN2A1    About this table
    CompoundSynonyms CAS #PubMed Ids
    D-MannoseDL-mannose (see all 13)3458-28-4--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    9 DrugBank Compounds for MAN2A1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    1,5-Dideoxy-1,5-Imino-D-Mannitol-- --target--17139284 17016423 10592235
    2-Deoxy-2-Fluoro-Alpha-D-Mannosyl Fluoride-- --target--17139284 17016423 10592235
    5-Fluoro-Beta-L-Gulosyl Fluoride-- --target--17139284 17016423 10592235
    5-Thio-a/B-D-Mannopyranosylamine-- --target--17139284 17016423 10592235
    Ghavamiol-- --target--17139284 17016423 10592235
    Kifunensine-- 109944-15-2target--17139284 17016423 10592235
    Swainsonine-- 72741-87-8target--17139284 17016423 10592235
    (1R,2R,3R,4S,5R)-4-(BENZYLAMINO)-5-(METHYLTHIO)CYCLOPENTANE-1,2,3-TRIOL-- --target--10592235
    (1S,2S,3R,6R)-4-(hydroxymethyl)-6-(octylamino)cyclohex-4-ene-1,2,3-triol-- --target--10592235

    5 Novoseek inferred chemical compound relationships for MAN2A1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    swainsonine 93.2 12 8252542 (1), 15583810 (1), 10920997 (1), 15069543 (1) (see all 8)
    man5glcnac2 74.8 1 10580131 (1)
    mannose 66.2 7 16756569 (1), 19556306 (1), 1757461 (1), 10580131 (1)
    polysaccharide 51.2 3 16435400 (1), 8524845 (1), 1476702 (1)
    asparagine 28.9 4 11158608 (1)



    MAN2A1 for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for MAN2A1 gene: 
    NM_002372.3  

    Unigene Cluster for MAN2A1:

    Mannosidase, alpha, class 2A, member 1
    Hs.432822  [show with all ESTs]
    Unigene Representative Sequence: CR936691
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000261483(uc003kot.1 uc003kou.1) ENST00000502261 ENST00000508043
    ENST00000513921 ENST00000505313 ENST00000503970
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate MAN2A1 (see all 24):
    hsa-miR-137 hsa-miR-128 hsa-miR-25 hsa-miR-218 hsa-miR-1297 hsa-miR-649 hsa-miR-4325 hsa-miR-3119
    SwitchGear 3'UTR luciferase reporter plasmidMAN2A1 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: MAN2A1 (NM_002372)
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      QuantiTect SYBR Green Assays in human, mouse, rat MAN2A1
      QuantiFast Probe-based Assays in human, mouse, rat MAN2A1

    Additional mRNA sequence: 

    AK314090.1 AL833486.1 BC031659.1 BC043416.1 BC111062.1 BC142656.1 BC142696.1 BX537791.1 
    CR936691.1 D63998.1 U31520.1 

    12 DOTS entries:

    DT.212618  DT.453954  DT.95196211  DT.100694770  DT.446242  DT.99972096  DT.100682081  DT.92006830 
    DT.102832306  DT.214230  DT.100749465  DT.120834520 

    Selected AceView cDNA sequences (see all 205):

    BE350575 BF002566 AA447868 AU132856 F02566 CD678049 AA327480 BU623832 
    F06281 AI277559 AA236982 AA235924 AA505861 AW628979 BX426036 AA336249 
    AW300139 CA393661 BM708165 BQ694012 BU622989 C16608 NM_002372 H69562 

    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™, 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)
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    MAN2A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    MAN2A1 Expression
    About this image


    MAN2A1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Neural Crest (Gastrulation Derivatives)
             PureStem SM30, NCr-fac & Meso-latp Progenitor
     
     Ovary (Reproductive System)
             Oviduct
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Lateral Plate Mesoderm (Gastrulation Derivatives)
             PureStem SM30, NCr-fac & Meso-latp Progenitor
    MAN2A1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MAN2A1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.432822
        Pathway & Disease-focused RT2 Profiler PCR Array including MAN2A1: 
              Glycosylation in human mouse rat

    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for MAN2A1
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    QuantiFast Probe-based Assays in human, mouse, rat MAN2A1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAN2A1

    (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

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    This gene was present in the common ancestor of animals.

    Orthologs for MAN2A1 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Man2a11 , 5 mannosidase 2, alpha 11, 5 81.39(n)1
    81.01(a)1
      17 (33.76 cM)5
    171581  NM_008549.21  NP_032575.21 
     646007365 
    chicken
    (Gallus gallus)
    Aves MAN2A11 mannosidase, alpha, class 2A, member 1 73.69(n)
    72.64(a)
      415611  XM_003643046.2  XP_003643094.1 
    lizard
    (Anolis carolinensis)
    Reptilia MAN2A16
    mannosidase, alpha, class 2A, member 1
    70(a)
    1 ↔ 1
    GL343193.1(5571738-5664700)
    African clawed frog
    (Xenopus laevis)
    Amphibia 480480502   -- 78.2(n)    48048050 
    zebrafish
    (Danio rerio)
    Actinopterygii man2a16
    mannosidase, alpha, class 2A, member 1
    63(a)
    1 ↔ 1
    5(58415371-58611483) ENSDARG00000059669
    fruit fly
    (Drosophila melanogaster)
    Insecta alpha-Man-II3 N-linked glycosylation
    mannosyl-oligosaccharide
    more
    39(a)
    (best of 2)
        --
    worm
    (Caenorhabditis elegans)
    Secernentea F58H1.13 alpha-mannosidase 36(a)   V(11930428-11935823)   --


    ENSEMBL Gene Tree for MAN2A1 (if available)
    TreeFam Gene Tree for MAN2A1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MAN2A1 gene
    MAN2B12  MAN2B22  MAN2A22  ENSG000002692422  ENSG000002695902  
    2 SIMAP similar genes for MAN2A1 using alignment to 3 protein entries:     MA2A1_HUMAN (see all proteins):
    MAN2A2    MANB

    MAN2A1 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), 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)
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    Selected SNPs for MAN2A1 (see all 3796)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs675068271,2
    C--104287919(+) ACACA-/AACACAC
    ACA
    /CACACA
    GTCTT
    2 -- int1 cds11NA 2
    rs1885935711,2
    C--109023221(+) GTACAC/TGTGCG 1 -- us2k10--------
    rs1806888381,2
    --109023228(+) TGCGCC/TCACCT 1 -- us2k10--------
    rs8457331,2
    C,F--109023401(+) AGAGAA/GAGAGT 1 -- us2k1 trp36Minor allele frequency- G:0.23MN NA CSA WA EA 546
    rs8457341,2
    C,F,A,H--109023410(+) GTTGGC/AGTGTT 1 -- us2k124Minor allele frequency- A:0.45MN NS EA NA WA CSA 2578
    rs752376311,2
    C,F--109023426(+) TTGTCG/AGTTTC 1 -- us2k12Minor allele frequency- A:0.05WA NA 238
    rs1837036821,2
    C--109023478(+) AAAAAA/G/TTAACA 1 -- us2k10--------
    rs1512983021,2
    --109023483(+) ATAACA/TCCATT 1 -- us2k10--------
    rs1405704631,2
    --109023672(+) TGCTTA/GTCATT 1 -- us2k10--------
    rs1902527091,2
    --109023702(+) AAGCAC/TGCAAA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for MAN2A1 (109025067 - 109205326 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for MAN2A1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2656631CNV Deletion23128226
    nsv327532CNV Insertion16902084
    esv267470CNV Insertion20981092
    esv273187CNV Insertion20981092
    esv2540552CNV Insertion19546169
    esv267440CNV Insertion20981092
    nsv462380CNV Loss19166990
    esv6990CNV Gain19470904
    esv6208CNV Gain19470904

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MAN2A1
    DNA2.0 Custom Variant and Variant Library Synthesis for MAN2A1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 154582    OMIM disorders: --

    18 diseases for MAN2A1:    
    About MalaCards
    alpha-mannosidosis    congenital disorder of glycosylation type ii    congenital dyserythropoietic anemia    congenital disorder of glycosylation, type it
    systemic lupus erythematosus    lupus erythematosus    congenital disorder of glycosylation    diffuse large b-cell lymphoma
    b-cell lymphomas    choriocarcinoma    herpes simplex    lymphoblastic leukemia
    hiv-1    alzheimer's disease    hepatitis    leukemia
    neuronitis    endotheliitis

    1 disease from the University of Copenhagen DISEASES database for MAN2A1:
    Congenital dyserythropoietic anemia

    MAN2A1 for disorders           About GeneDecksing

    4 Novoseek inferred disease relationships for MAN2A1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    anemia dyserythropoietic congenital 88.3 3 2217175 (2), 2136385 (1)
    autoimmune diseases 0 4 11158608 (1)
    metastasis 0 1 10920997 (1)
    cancer 0 2 11406577 (1), 20209559 (1)

    Genetic Association Database (GAD): MAN2A1
    Human Genome Epidemiology (HuGE) Navigator: MAN2A1 (5 documents)

    Export disorders for MAN2A1 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)
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    PubMed articles for MAN2A1 gene, integrated from 10 sources (see all 101):
    (articles sorted by number of sources associating them with MAN2A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and expression of cDNAs encoding human alpha- mannosidase II and a previously unrecognized alpha-mannosidase IIx isozyme. (PubMed id 8524845)1, 2, 9 Misago M....Fukuda M.N. (Proc. Natl. Acad. Sci. U.S.A. 1995)
    2. Isolation, characterization, and expression of cDNAs encoding murine alpha-mannosidase II, a Golgi enzyme that controls conversion of high mannose to complex N-glycans. (PubMed id 1757461)1, 3, 9 Moremen K.W. and Robbins P.W. (J. Cell Biol. 1991)
    3. Variants in KCNQ1, AP3S1, MAN2A1, and ALDH7A1 and the risk of type 2 diabetes in the Chinese Northern Han population: a case-control study and meta-analysis. (PubMed id 20512086)1, 4 Zhou J.B....Xin Z. (Med. Sci. Monit. 2010)
    4. Genome-wide association study of childhood acute lymphoblastic leukemia in Korea. (PubMed id 20189245)1, 4 Han S.... Kang D. (Leuk. Res. 2010)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    6. Association of polymorphisms in complement component C3 gene with susceptibility to systemic lupus erythematosus. (PubMed id 18174230)1, 4 Miyagawa H....Horiuchi T. (Rheumatology (Oxford) 2008)
    7. Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)1, 2 Liu T.... Smith R.D. (J. Proteome Res. 2005)
    8. The COG and COPI complexes interact to control the abundance of GEARs, a subset of Golgi integral membrane proteins. (PubMed id 15004235)1, 3 Oka T....Krieger M. (Mol. Biol. Cell 2004)
    9. Incomplete synthesis of N-glycans in congenital dyserythropoietic anemia type II caused by a defect in the gene encoding alpha-mannosidase II. (PubMed id 2217175)1, 9 Fukuda M.N....Moremen K.W. (Proc. Natl. Acad. Sci. U.S.A. 1990)
    10. Modulation of therapeutic antibody effector functions by glycosylation engineering: influence of Golgi enzyme localization domain and co-expression of heterologous beta1, 4-N-acetylglucosaminyltransferase III and Golgi alpha-mannosidase II. (PubMed id 16435400)1, 9 Ferrara C....UmaA+a P. (Biotechnol. Bioeng. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 4124 HGNC: 6824 AceView: MAN2A1 Ensembl:ENSG00000112893 euGenes: HUgn4124
    ECgene: MAN2A1 Kegg: 4124 H-InvDB: MAN2A1

    (According to HUGE)
    About This Section

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      --

    (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

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    NameDescription
    PharmGKB entry for MAN2A1 Pharmacogenomics, SNPs, Pathways

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

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    Patent Information for MAN2A1 gene:
    Search GeneIP for patents involving MAN2A1

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



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