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

MAN2A1 Gene

protein-coding   GIFtS: 65
GCID: GC05P109053

Mannosidase, Alpha, Class 2A, Member 1


(Previous symbol: MANA2)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Mannosidase, Alpha, Class 2A, Member 11 2     EC 3.2.1.1143 8
MANA21 2 3 5     GOLIM72
Golgi Integral Membrane Protein 71 2     MANII2
Man II2 3     Alpha-Mannosidase 22
Mannosyl-Oligosaccharide 1,3-1,6-Alpha-Mannosidase2 3     Mannosidase, Alpha Type II2
AMan II2 3     Mannosidase Alpha Class 2A Member 13
Golgi Alpha-Mannosidase II2 3     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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for MAN2A1 Gene:
This gene encodes a protein which is a member of family 38 of the glycosyl hydrolases. The protein is located in
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, Jul 2008)

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, and among its related super-pathways are WNT ligand biogenesis and trafficking and N-Glycan antennae elongation. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NT_034772.6  NC_018916.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for MAN2A1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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)
Subcellular location: Golgi apparatus membrane; Single-pass type II membrane protein (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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q16706

  • 4/11 DME Specific Peptides for MAN2A1 (Q16706) (see all 11)
     IDPFGHS  TSRPFYK  KLPLQAN  SGAYLFLP 

    MAN2A1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MAN2A1 Protein Expression
    REFSEQ proteins: NP_002363.2  
    ENSEMBL proteins: 
     ENSP00000261483  
    Reactome Protein details: Q16706
    Human Recombinant Protein Products for MAN2A1: 
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    Novus Biologicals MAN2A1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MAN2A1 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0005794Golgi apparatus ----
    GO:0016021integral to membrane IEA--

    MAN2A1 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for MAN2A1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/7 InterPro protein domains (see all 7):
     IPR027291 Glyco_hydro_38/57_N
     IPR011682 Glyco_hydro_38_C
     IPR015341 Glyco_hydro_38_cen_dom
     IPR000602 Glyco_hydro_38_N
     IPR011013 Gal_mutarotase_SF_dom

    Graphical View of Domain Structure for InterPro Entry 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,
    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: 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): 5/8 molecular function terms (GO ID links to tree view) (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  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 - Custom generated mouse model solutions for MAN2A1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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 

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    Inhib. RNA
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    (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 MAN2A1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Asparagine N-linked glycosylation
    Asparagine N-linked glycosylation0.77
    N-Glycan biosynthesis0.52
    WNT ligand biogenesis and trafficking0.77
    Post-translational protein modification0.44
    Signaling by Wnt0.62
    Metabolism of proteins0.35
    2N-glycan antennae elongation in the medial/trans-Golgi
    N-glycan antennae elongation in the medial/trans-Golgi0.75
    Transport to the Golgi and subsequent modification0.56
    3Signaling by GPCR
    Signal Transduction0.55
    4Metabolism
    Metabolic pathways0.40
    5Reactions specific to the complex N-glycan synthesis pathway
    Reactions specific to the complex N-glycan synthesis pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5/9        Reactome Pathways for MAN2A1 (see all 9)
        Reactions specific to the complex N-glycan synthesis pathway
    Signaling by Wnt
    Asparagine N-linked glycosylation
    N-glycan antennae elongation in the medial/trans-Golgi
    Transport to the Golgi and subsequent modification


    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

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MAN2A1

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5 Interacting proteins for MAN2A1 (Q167062 ENSP000002614834) via UniProtKB, MINT, STRING, and/or I2D

    InteractantInteraction Details
    GeneCardExternal ID(s)
    MGAT1ENSP000003118884STRING: ENSP00000311888
    MGAT2ENSP000003074234STRING: ENSP00000307423
    MBTPS1ENSP000003442234STRING: ENSP00000344223
    GOLGA2ENSP000004160974STRING: ENSP00000416097
    --Q100452MINT-6167093
    About this table

    Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12):    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 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

    MAN2A1 for compounds           About GeneDecksing

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

    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)

    Search CenterWatch for drugs/clinical trials and news about MAN2A1 / MA2A1

    (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,
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    About This Section

    REFSEQ mRNAs for MAN2A1 gene: 
    NM_002372.2  

    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
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    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 

    24/205 AceView cDNA sequences (see all 205):

    AA705862 AL700597 BM708165 CD678049 AW614629 BQ694012 AA327480 BU622989 
    AU132856 AA505861 CA417340 AA236982 AI379540 CA393661 AI277559 AI167915 
    NM_002372 F02566 BM904920 AU120676 AA235924 BQ775832 AU121370 BU623832 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MAN2A1 expression in normal human tissues (normalized intensities)      MAN2A1 embryonic expression: see
    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 
     5/2 selected tissues (see all 2) fully expand
     
     Neural Crest (Gastrulation Derivatives)
             PureStem SM30, NCr-fac & Meso-latp Progenitor
     
     Lateral Plate Mesoderm (Gastrulation Derivatives)
             PureStem SM30, NCr-fac & Meso-latp Progenitor

    See MAN2A1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MAN2A1

    SOURCE GeneReport for Unigene cluster: Hs.432822
        SABiosciences Expression via Pathway-Focused PCR Array including MAN2A1: 
              Glycosylation in human mouse rat

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    In Situ
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    (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 MAN2A1 gene from 7/16 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_003643046.1  XP_003643094.1 
    lizard
    (Anolis carolinensis)
    Reptilia MAN2A16
    Uncharacterized protein
    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)
    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
    aman-21
    alpha-mannosidase3
    Protein AMAN-21
    36(a)3
    49.95(n)1
    39.6(a)1
      V(11930428-11935823)3
    1796321  NM_001047672.21  NP_001041137.11 


    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)
    About This Section
    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) 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

    10/3796 SNPs in MAN2A1 are shown (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

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

    16 diseases for MAN2A1:    About MalaCards
    alpha-mannosidosis    congenital disorder of glycosylation type ii    congenital dyserythropoietic anemia    systemic lupus erythematosus
    lupus erythematosus    congenital disorder of glycosylation    diffuse large b-cell lymphoma    anemia
    b-cell lymphomas    choriocarcinoma    herpes simplex    alcoholism
    gastric cancer    hepatitis    leukemia    neuronitis

    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)
    About This Section

    PubMed articles for MAN2A1 gene, integrated from 9 sources (see all 98):
    (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. (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. (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. (2010)
    4. Genome-wide association study of childhood acute lymp hoblastic leukemia in Korea. (PubMed id 20189245)1, 4 Han S....Kang D. (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. (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. (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. (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. (2004)
    9. Genetic remodeling of protein glycosylation in vivo induces autoimmune disease. (PubMed id 11158608)1, 9 Chui D....Marth J. (2001)
    10. Disruption of alpha-mannosidase processing induces non-canonical hybrid-type glycosylation. (PubMed id 17466984)1, 9 Crispin M....Harvey D.J. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4124 HGNC: 6824 AceView: MAN2A1 Ensembl:ENSG00000112893 euGenes: HUgn4124
    ECgene: MAN2A1 Kegg: 4124 H-InvDB: MAN2A1

    (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 MAN2A1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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