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

MAN2A1 Gene

protein-coding   GIFtS: 63
GCID: GC05P109053

mannosidase, alpha, class 2A, member 1


(Previous symbol: MANA2)
 Explore 21 diseases affiliated with
MAN2A1 via our new
 Human Malady Compendium 
Biological research products
for MAN2A1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Mannosidase, Alpha, Class 2A, Member 11 2     EC 3.2.1.1143 8
MANA21 2 3 5     MANII2
GOLIM71 2     Alpha-Mannosidase 22
Man II2 3     Golgi Integral Membrane Protein 72
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:
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)

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:
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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.1  NT_034772.6  
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-q22   Ensembl cytogenetic band:  5q21.3   HGNC chromosome: 5

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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • 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 MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_002363.2  
    ENSEMBL proteins: 
     ENSP00000261483  
    Reactome Protein details: Q16706
    Human Recombinant Protein Products: 
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    Uscn 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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    Uscn ELISAs and CLIAs for MAN2A1


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

    MAN2A1 for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR011682 Glyco_hydro_38_C
     IPR015341 Glyco_hydro_38_cen_dom
     IPR000602 Glyco_hydro_38_N
     IPR011013 Gal_mutarotase_SF_dom
     IPR011330 Glyco_hydro/deAcase_b/a-brl

    Graphical View of Domain Structure for InterPro Entry Q16706

    ProtoNet protein and cluster: Q16706

    1 Blocks protein family: IPB000602 Glycoside hydrolase

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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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
    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

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    hsa-miR-137 hsa-miR-128 hsa-miR-25 hsa-miR-218 hsa-miR-1297 hsa-miR-649 hsa-miR-4325 hsa-miR-3119
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    Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004559alpha-mannosidase activity ----
    GO:0004572mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity IEA--
    GO:0008270zinc ion binding IEA--
    GO:0015923mannosidase activity ----
    GO:0016799hydrolase activity, hydrolyzing N-glycosyl compounds IEA--


    MAN2A1 for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-out Man2a1tm1Jxm for MAN2A1
         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


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Asparagine N-linked glycosylation
    Asparagine N-linked glycosylation1.00
    Post-translational protein modification0.44
    N-Glycan biosynthesis0.52
    Metabolism of proteins0.15
    2N-glycan antennae elongation in the medial/trans-Golgi
    N-glycan antennae elongation in the medial/trans-Golgi1.00
    Transport to the Golgi and subsequent modification0.56
    3Reactions specific to the complex N-glycan synthesis pathway
    Reactions specific to the complex N-glycan synthesis pathway1.00
    4Metabolism
    Metabolic pathways0.38

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    5/6        Reactome Pathways for MAN2A1 (see all 6)
        N-glycan antennae elongation in the medial/trans-Golgi
    Transport to the Golgi and subsequent modification
    Reactions specific to the complex N-glycan synthesis pathway
    Asparagine N-linked glycosylation
    Metabolism of proteins


    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): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001701in utero embryonic development IEA--
    GO:0001889liver development IEA--
    GO:0006013mannose metabolic process IEA--
    GO:0006491N-glycan processing IEA--
    GO:0007005mitochondrion organization IEA--


    MAN2A1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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]
    SwainsonineInhibitor of alpha-mannosidase II[72741-87-8]
    1-Deoxymannojirimycin hydrochloridealpha-Mannosidase I inhibitor[84444-90-6]

    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 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 235 Homo sapiens; Mar 10 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,
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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

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    Additional cDNA 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):

    BE350575 BU622989 BU623832 BF002566 AA336249 BM904920 AU121370 F06281 
    AU132856 BE301804 AI800668 AI277559 AA447868 BF055014 CA417340 H69562 
    BP379558 BU732013 AW300139 AA505861 AA705862 BQ775832 AA327480 CD678049 

    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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    MAN2A1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    PureStem™ mesenchymal progenitor SM30 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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 eukaryotes.

    Orthologs for MAN2A1 gene from 9/25 species (see all 25)    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
    --
    69(a)
    1 ↔ 1
    GL343193.1(5572208-5661799)
    African clawed frog
    (Xenopus laevis)
    Amphibia 480480502   -- 78.2(n)    48048050 
    zebrafish
    (Danio rerio)
    Actinopterygii man2a16
    mannosidase, alpha, class 2A, member 1
    62(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 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons GMII6
    alpha-mannosidase II
    35(a)
    1 → many
    5(4837152-4841942)
    rice
    (Oryza sativa)
    Liliopsida --
    alpha-mannosidase 2, putative, expressed
    36(a)
    1 → many
    6(7562725-7570103)


    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  
    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, UniProtKB, 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

    10/3192 NCBI SNPs in MAN2A1 are shown (see all 3192    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1885935711,2
    --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
    F,--109023426(+) TTGTCG/AGTTTC 1 -- us2k12Minor allele frequency- A:0.05WA NA 238
    rs1837036821,2
    --109023478(+) AAAAAA/TTAACA 1 -- us2k10--------
    rs1512983021,2
    --109023483(+) ATAACA/TCCATT 1 -- us2k10--------
    rs1405704631,2
    --109023672(+) TGCTTA/GTCATT 1 -- us2k10--------
    rs1902527091,2
    --109023702(+) AAGCAC/TGCAAA 1 -- us2k10--------
    rs8457351,2
    C,F,H,--109023871(+) CATTTC/GCCTTT 1 -- us2k1 tfbs317Minor allele frequency- G:0.26MN NS EA NA WA 2522

    HapMap Linkage Disequilibrium report for MAN2A1 (109025067 - 109205326 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for MAN2A1
         1 CNV: 99253
         2 Indels: 60546 60545

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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.)
    About This Section

    MAN2A1 for disorders           About GeneDecksing

    OMIM gene information: 154582    OMIM disorders: --

    20/21 diseases for MAN2A1 (see all 21):    About MalaCards
    systemic lupus erythematosus    lupus erythematosus    mannosidosis    alpha-mannosidosis
    alcohol withdrawal delirium    diffuse large b-cell lymphoma    congenital disorder of glycosylation type ii    b-cell lymphomas
    dyserythropoietic anemia    congenital disorder of glycosylation    congenital dyserythropoietic anemia    herpes simplex
    anemia    choriocarcinoma    alcoholism    twinning
    gastric cancer    immunodeficiency    hepatitis    leukemia

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

    4 Novoseek 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)

    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 87):
    (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. Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)1, 2 Liu T.... Smith R.D. (2005)
    4. 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)
    5. Genetic remodeling of protein glycosylation in vivo induces autoimmune disease. (PubMed id 11158608)1, 9 Chui D....Marth J. (2001)
    6. Disruption of alpha-mannosidase processing induces non-canonical hybrid-type glycosylation. (PubMed id 17466984)1, 9 Crispin M....Harvey D.J. (2007)
    7. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    8. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    9. 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 Zhou J.B....Xin Z. (2010)
    10. Genome-wide association study of childhood acute lymp hoblastic leukemia in Korea. (PubMed id 20189245)1 Han S....Kang D. (2010)

    (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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