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MAN1A2 Gene

protein-coding   GIFtS: 67
GCID: GC01P117910

Mannosidase, Alpha, Class 1A, Member 2

  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 1A, Member 21 2     EC 3.2.1.1133 8
Alpha-1,2-Mannosidase IB2 3     alpha1,2-mannosidase2
Processing Alpha-1,2-Mannosidase IB2 3     Mannosyl-Oligosaccharide 1,2-Alpha-Mannosidase IB2
MAN1B2 3     Mannosidase Alpha Class 1A Member 23

External Ids:    HGNC: 68221   Entrez Gene: 109052   Ensembl: ENSG000001981627   OMIM: 6043455   UniProtKB: O604763   

Export aliases for MAN1A2 gene to outside databases

Previous GC identifers: GC01P118369 GC01P116748 GC01P117057 GC01P117256 GC01P117623 GC01P117711 GC01P115766


(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 MAN1A2 Gene:
Alpha-mannosidases function at different stages of N-glycan maturation in mammalian cells. See MAN2A1 (MIM 154582)
for general information.(supplied by OMIM, Mar 2008)

GeneCards Summary for MAN1A2 Gene:
MAN1A2 (mannosidase, alpha, class 1A, member 2) is a protein-coding gene. Diseases associated with MAN1A2 include fanconi's anemia, and hiv-1. GO annotations related to this gene include mannosyl-oligosaccharide 1,2-alpha-mannosidase activity and calcium ion binding. An important paralog of this gene is MAN1A1.

UniProtKB/Swiss-Prot: MA1A2_HUMAN, O60476
Function: Involved in the maturation of Asn-linked oligosaccharides. Progressively trim alpha-1,2-linked mannose
residues from Man(9)GlcNAc(2) to produce Man(5)GlcNAc(2)

summary for MAN1A2 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 MAN1A2 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_000001.11  NT_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MAN1A2 gene promoter:
         E2F-3a   E2F-4   E2F-5   MEF-2   E2F-2   Evi-1   FAC1   E2F   E2F-1   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMAN1A2 promoter sequence
   Search Chromatin IP Primers for MAN1A2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MAN1A2


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

Entrez Gene cytogenetic band: 1p13   Ensembl cytogenetic band:  1p12   HGNC cytogenetic band: 1p13

MAN1A2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MAN1A2 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P117910:  view genomic region     (about GC identifiers)

Start:
117,910,071 bp from pter      End:
118,071,494 bp from pter
Size:
161,424 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: MA1A2_HUMAN, O60476 (See protein sequence)
Recommended Name: Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB  
Size: 641 amino acids; 73004 Da
Cofactor: Calcium
Secondary accessions: Q9H510

Explore the universe of human proteins at neXtProt for MAN1A2: NX_O60476

Explore proteomics data for MAN1A2 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn631
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for MAN1A2 (O60476) (see all 12)
     QSFFLAE  DSFYEYL  FNTEAHP  FFLPDSSK 


    See MAN1A2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_006690.1  
    ENSEMBL proteins: 
     ENSP00000348959   ENSP00000412706   ENSP00000396362   ENSP00000402416  
    Reactome Protein details: O60476

    MAN1A2 Human Recombinant Protein Products:

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    Novus Biologicals MAN1A2 Protein
    Novus Biologicals MAN1A2 Lysate
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    Cloud-Clone Corp. Proteins for MAN1A2

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    LSBio Antibodies in human, mouse, rat for MAN1A2

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    Cloud-Clone Corp. CLIAs for MAN1A2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR001382 Glyco_hydro_47

    Graphical View of Domain Structure for InterPro Entry O60476

    ProtoNet protein and cluster: O60476

    1 Blocks protein domain: IPB001382 Glycosyl hydrolase family 47 signature

    UniProtKB/Swiss-Prot: MA1A2_HUMAN, O60476
    Similarity: Belongs to the glycosyl hydrolase 47 family


    MAN1A2 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: MA1A2_HUMAN, O60476
    Function: Involved in the maturation of Asn-linked oligosaccharides. Progressively trim alpha-1,2-linked mannose
    residues from Man(9)GlcNAc(2) to produce Man(5)GlcNAc(2)
    Catalytic activity: Hydrolysis of the terminal (1->2)-linked alpha-D-mannose residues in the oligo-mannose
    oligosaccharide Man(9)(GlcNAc)(2)
    Enzyme regulation: Inhibited by both 1-deoxymannojirimycin and kifunensine

         Genatlas biochemistry entry for MAN1A2:
    alpha-mannosidase,class 1A,member 2,membrane type,expressed in brain placenta and lymphocytes,involved in
    processing of Asp-linked (N) glycans

         Enzyme Number (IUBMB): EC 3.2.1.1131 2

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004571mannosyl-oligosaccharide 1,2-alpha-mannosidase activity IEA--
    GO:0005509calcium ion binding IEA--
         
    MAN1A2 for ontologies           About GeneDecksing


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Man1a2):
     cardiovascular system  homeostasis/metabolism  mortality/aging  no phenotypic analysis  respiratory system 

    MAN1A2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Man1a2tm1.1Ahe for MAN1A2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MAN1A2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for MAN1A2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MAN1A2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MAN1A2

    miRNA
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    miRTarBase miRNAs that target MAN1A2:
    hsa-mir-155-5p (MIRT020840), hsa-mir-142-3p (MIRT021625), hsa-mir-130b-3p (MIRT044165), hsa-mir-30a-5p (MIRT028615)

    Block miRNA regulation of human, mouse, rat MAN1A2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MAN1A2 (see all 42):
    hsa-miR-2052 hsa-miR-4307 hsa-miR-607 hsa-miR-19b-2* hsa-miR-30d hsa-miR-9 hsa-miR-30a hsa-miR-133a
    SwitchGear 3'UTR luciferase reporter plasmidMAN1A2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat MAN1A2

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: MAN1A2 (NM_006699)
    Sino Biological Human cDNA Clone for MAN1A2
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MAN1A2

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAN1A2


    (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
    MA1A2_HUMAN, O60476: Golgi apparatus membrane; Single-pass type II membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    nucleus4
    cytosol2
    mitochondrion2
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0005730nucleolus IDA--
    GO:0005794Golgi apparatus IDA--
    GO:0016020membrane TAS9592125
    GO:0016021integral component of membrane IEA--

    MAN1A2 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 MAN1A2 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 trimming and elongation in the cis-Golgi0.00
    Post-translational protein modification0.43
    Progressive trimming of alpha-1,2-linked mannose residues from Man9/8/7GlcNAc2 to produce Man5GlcNAc20.00
    Transport to the Golgi and subsequent modification0.40
    2Metabolism
    Metabolic pathways0.38
    3Protein processing in endoplasmic reticulum
    Protein processing in endoplasmic reticulum

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for MAN1A2
        Progressive trimming of alpha-1,2-linked mannose residues from Man9/8/7GlcNAc2 to produce Man5GlcNAc2


    3 Kegg Pathways  (Kegg details for MAN1A2):
        N-Glycan biosynthesis
    Metabolic pathways
    Protein processing in endoplasmic reticulum

    UniProtKB/Swiss-Prot: MA1A2_HUMAN, O60476
    Pathway: Protein modification; protein glycosylation


    MAN1A2 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including MAN1A2: 

              Glycosylation in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for MAN1A2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    Selected Interacting proteins for MAN1A2 (O604762, 3 ENSP000003489594) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMAD9O151982, 3MINT-62130 I2D: score=3 
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    CYTH1Q154383I2D: score=3 
    FOSP011003I2D: score=1 
    GTF2F2P139843I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006491N-glycan processing TAS9592125
    GO:0007585respiratory gaseous exchange IEA--
    GO:0009100glycoprotein metabolic process ----
    GO:0018279protein N-linked glycosylation via asparagine TAS--
    GO:0043687post-translational protein modification TAS--

    MAN1A2 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 MAN1A2 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]

    3 HMDB Compounds for MAN1A2    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    D-MannoseDL-mannose (see all 13)3458-28-4--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    5 Novoseek inferred chemical compound relationships for MAN1A2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    man5glcnac2 90.6 2 11714724 (1), 10672024 (1)
    1-deoxynojirimycin 88.7 3 16615997 (2), 10764822 (1)
    man9(glcnac)2 85 2 11714724 (1)
    mannose 71.4 1 16615997 (1)
    calcium 8.67 3 10764822 (1), 9271078 (1)



    MAN1A2 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 MAN1A2 gene: 
    NM_006699.3  

    Unigene Cluster for MAN1A2:

    Mannosidase, alpha, class 1A, member 2
    Hs.435938  [show with all ESTs]
    Unigene Representative Sequence: BC052954
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000356554(uc009whg.1 uc001ehd.1) ENST00000482811 ENST00000449370
    ENST00000421535 ENST00000422329
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate MAN1A2 (see all 42):
    hsa-miR-2052 hsa-miR-4307 hsa-miR-607 hsa-miR-19b-2* hsa-miR-30d hsa-miR-9 hsa-miR-30a hsa-miR-133a
    SwitchGear 3'UTR luciferase reporter plasmidMAN1A2 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat MAN1A2
      QuantiFast Probe-based Assays in human, mouse, rat MAN1A2

    Additional mRNA sequence: 

    AF027156.1 AK001970.1 AK090840.1 AK307842.1 BC015874.1 BC052954.1 BC063300.1 HQ234305.1 

    7 DOTS entries:

    DT.95269950  DT.86853467  DT.121406992  DT.75155982  DT.95294363  DT.40109874  DT.95175951 

    Selected AceView cDNA sequences (see all 264):

    BX102058 AA829976 AI285106 BE219253 AI417585 W37459 AW779493 AI379549 
    AA478864 BG623246 AA394233 BC063300 AL119741 AI539018 AA235544 BG564455 
    AA479201 Z39056 CR619125 BM765284 AI468741 NM_006699 AI861966 BF772756 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for MAN1A2    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15a · 15b
    SP1:                                                                                            -                     
    SP2:                                                                                                                  
    SP3:                                                                                            -                     
    SP4:              -     -                                                                                             


    ECgene alternative splicing isoforms for MAN1A2

    (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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    MAN1A2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGCCAAGCAT
    MAN1A2 Expression
    About this image


    MAN1A2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Midbrain tegmentum
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Lung (Respiratory System)    fully expand to see all 2 entries
             Stem Bronchi
     
     Thymus (Hematopoietic System)
             Thymus
     
     Kidney (Urinary System)
             Metanephros
    MAN1A2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MAN1A2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.435938

    UniProtKB/Swiss-Prot: MA1A2_HUMAN, O60476
    Tissue specificity: Highest levels of expression in placenta and testis

        Pathway & Disease-focused RT2 Profiler PCR Array including MAN1A2: 
              Glycosylation in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat MAN1A2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAN1A2

    (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)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for MAN1A2 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Man1a21 , 5 mannosidase, alpha, class 1A, member 21, 5 89.6(n)1
    94.54(a)1
      3 (43.71 cM)5
    171561  NM_010763.21  NP_034893.11 
     1005622085 
    chicken
    (Gallus gallus)
    Aves MAN1A21 mannosidase, alpha, class 1A, member 2 80.86(n)
    89.24(a)
      418265  XM_416490.4  XP_416490.2 
    lizard
    (Anolis carolinensis)
    Reptilia MAN1A26
    mannosidase, alpha, class 1A, member 2
    84(a)
    1 ↔ 1
    GL343218.1(331057-367064)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia man1a21 mannosidase, alpha, class 1A, member 2 72.65(n)
    84.09(a)
      100216029  XM_002943445.2  XP_002943491.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.187662 Transcribed sequence with moderate similarity to protein more 77.26(n)    BQ479592.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta alpha-Man-I1 , 3 N-linked glycosylation
    mannosyl-oligosaccharide
    more3
    alpha Mannosidase I1
    58(a)3
    53.32(n)1
    51.35(a)1
      319571  NM_206673.21  NP_996396.11 
    worm
    (Caenorhabditis elegans)
    Secernentea C52E4.51 , 3 alpha 1,2, mannosidase3
    C52E4.51
    46(a)
    (best of 2)3
    52.21(n)1
    46.17(a)1
      V(11985739-11988071)3
    1796421  NM_001269459.11  NP_001256388.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MNS16
    Alpha-1,2-mannosidase involved in ER quality contr...
    33(a)
    1 → many
    X(667644-669293) YJR131W


    ENSEMBL Gene Tree for MAN1A2 (if available)
    TreeFam Gene Tree for MAN1A2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MAN1A2 gene
    MAN1A12  MAN1C12  MAN1B12  
    6 SIMAP similar genes for MAN1A2 using alignment to 4 protein entries:     MA1A2_HUMAN (see all proteins):
    pp6318    MAN1C1    MAN1A1    DKFZp434I213    EDEM3    MAN1B1

    MAN1A2 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for MAN1A2
    PGOHUM00000259323


    (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

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    Selected SNPs for MAN1A2 (see all 2765)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1924461321,2
    --117908106(+) CTGAAA/CTTTTC 1 -- us2k10--------
    rs1157433701,2
    F--117908178(+) CCCCCC/TACTTT 1 -- us2k11Minor allele frequency- T:0.03WA 118
    rs1448368211,2
    --117908205(+) ACATTA/TGAGAC 1 -- us2k10--------
    rs1387656101,2
    --117908312(+) GGGACC/TGGGCA 1 -- us2k10--------
    rs1838308341,2
    --117908352(+) CTGGTA/GAGAGG 1 -- us2k10--------
    rs1888456151,2
    --117908505(+) GAACAC/TGAGAC 1 -- us2k10--------
    rs1140139281,2
    F--117908584(+) CCAGTC/TATCAG 1 -- us2k11Minor allele frequency- T:0.01WA 118
    rs13423891,2
    C,F,A,H--117908772(+) TATTGT/CCGCCT 1 -- us2k113Minor allele frequency- C:0.12NS NA WA 1712
    rs1488748431,2
    --117908942(+) GAAGGA/CGCAGG 1 -- us2k10--------
    rs1435771531,2
    --117908943(+) AAGGAA/GCAGGG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for MAN1A2 (117910071 - 118071494 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for MAN1A2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1005427CNV Deletion20482838
    esv2224574CNV Deletion18987734
    esv2661362CNV Deletion23128226
    nsv506956CNV Insertion20534489
    nsv819679CNV Loss19587683
    nsv872166CNV Loss21882294
    nsv519780CNV Gain19592680
    nsv831170CNV Gain17160897

    Human Gene Mutation Database (HGMD): MAN1A2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MAN1A2
    DNA2.0 Custom Variant and Variant Library Synthesis for MAN1A2

    (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.)
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    OMIM gene information: 604345    OMIM disorders: --

    4 diseases for MAN1A2:    
    About MalaCards
    fanconi's anemia    hiv-1    cerebritis    malaria


    MAN1A2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): MAN1A2
    Human Genome Epidemiology (HuGE) Navigator: MAN1A2 (2 documents)

    Export disorders for MAN1A2 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 MAN1A2 gene, integrated from 10 sources (see all 43):
    (articles sorted by number of sources associating them with MAN1A2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning, chromosomal mapping and tissue-specific expression of a novel human alpha-1,2-mannosidase gene involved in N-glycan maturation. (PubMed id 9592125)1, 2, 3, 9 Tremblay L.O.... Herscovics A. (Glycobiology 1998)
    2. 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)
    3. Screening for replication of genome-wide SNP associations in sporadic ALS. (PubMed id 18987618)1, 4 Cronin S....Hardiman O. (Eur. J. Hum. Genet. 2009)
    4. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    5. 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)
    6. Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-I+-acetylation features. (PubMed id 22223895)2 Bienvenut W.V....Giglione C. (amp 2012)
    7. N-terminal acetylome analyses and functional insights of the N- terminal acetyltransferase NatB. (PubMed id 22814378)2 Van Damme P....Aldabe R. (Proc. Natl. Acad. Sci. U.S.A. 2012)
    8. TLR8-dependent TNF-(alpha) overexpression in Fanconi anemia group C cells. (PubMed id 19850743)1 Vanderwerf S.M....Bagby G.C. (Blood 2009)
    9. Proteomic analysis of human parotid gland exosomes by multidimensional protein identification technology (MudPIT). (PubMed id 19199708)1 Gonzalez-Begne M....Yates J.R. (J. Proteome Res. 2009)
    10. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (amp 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 10905 HGNC: 6822 AceView: MAN1A2 Ensembl:ENSG00000198162 euGenes: HUgn10905
    ECgene: MAN1A2 Kegg: 10905 H-InvDB: MAN1A2

    (According to HUGE)
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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)
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    NameDescription
    PharmGKB entry for MAN1A2 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 MAN1A2 gene:
    Search GeneIP for patents involving MAN1A2

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



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