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

MAN1A2 Gene

protein-coding   GIFtS: 66
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)
About This Section

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

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 anemia, and among its related super-pathways are WNT ligand biogenesis and trafficking and Progressive trimming of alpha-1,2-linked mannose residues from Man9/8/7GlcNAc2 to produce Man5GlcNAc2. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.2  NT_032977.9  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for MAN1A2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: MA1A2_HUMAN, O60476 (See protein sequence)
Recommended Name: Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB  
Size: 641 amino acids; 73004 Da
Cofactor: Calcium
Subcellular location: Golgi apparatus membrane; Single-pass type II membrane protein
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O60476

  • 4/12 DME Specific Peptides for MAN1A2 (O60476) (see all 12)
     QSFFLAE  DSFYEYL  FNTEAHP  FFLPDSSK 

    MAN1A2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MAN1A2 Protein Expression
    REFSEQ proteins: NP_006690.1  
    ENSEMBL proteins: 
     ENSP00000348959   ENSP00000412706   ENSP00000396362   ENSP00000402416  
    Reactome Protein details: O60476
    Human Recombinant Protein Products for MAN1A2: 
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    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

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

    MAN1A2 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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,
    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: 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 (GO ID links to tree view):    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 - Custom generated mouse model solutions for MAN1A2 
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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 MAN1A2 About   (see all 6)                                                                                              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 trimming and elongation in the cis-Golgi
    N-glycan trimming and elongation in the cis-Golgi0.60
    Progressive trimming of alpha-1,2-linked mannose residues from Man9/8/7GlcNAc2 to produce Man5GlcNAc20.60
    3N-glycan antennae elongation in the medial/trans-Golgi
    Transport to the Golgi and subsequent modification0.56
    4Signaling by GPCR
    Signal Transduction0.55
    5Metabolism
    Metabolic pathways0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    5/9        Reactome Pathways for MAN1A2 (see all 9)
        Transport to the Golgi and subsequent modification
    Signaling by Wnt
    Asparagine N-linked glycosylation
    Progressive trimming of alpha-1,2-linked mannose residues from Man9/8/7GlcNAc2 to produce Man5GlcNAc2
    Signal Transduction


    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

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MAN1A2

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

    5/10 Interacting proteins for MAN1A2 (O604762, 3 ENSP000003489594) via UniProtKB, MINT, STRING, and/or I2D (see all 10)

    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): 5/7 biological process terms (GO ID links to tree view) (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 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

    MAN1A2 for compounds           About GeneDecksing

    EMD Millipore small molecules for MAN1A2:
    Small Molecule - inhibitor
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    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)

    Search CenterWatch for drugs/clinical trials and news about MAN1A2 / MA1A2

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
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    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 

    24/264 AceView cDNA sequences (see all 264):

    AW316939 BQ721798 AA832229 BF772756 AA578856 AI539018 AW966314 AL119741 
    AW204118 AA911882 BM684703 AA478626 BG403631 AW779493 AI346166 BG564455 
    AI379549 AI285106 N30624 BX102058 AA394233 AA829976 AL133955 H84925 

    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™, 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

    MAN1A2 expression in normal human tissues (normalized intensities)      MAN1A2 embryonic expression: see
    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 
     5/29 selected tissues (see all 29) fully expand
     
     Brain (Nervous System)    fully expand to see all 15 entries
             Thalamus
             Olfactory Bulb   
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Telencephalon
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             heart/atrium   
     
     Lung (Respiratory System)    fully expand to see all 2 entries
             Stem Bronchi
     
     Spinal Cord (Nervous System)    fully expand to see all 2 entries
             Dorsal Horn   

    See MAN1A2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MAN1A2

    SOURCE GeneReport for Unigene cluster: Hs.435938

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

        SABiosciences Expression via Pathway-Focused PCR Array including MAN1A2: 
              Glycosylation in human mouse rat

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    In Situ
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    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)
    About This Section

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

    Orthologs for MAN1A2 gene from 7/17 species (see all 17)    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_416490.3  XP_416490.2 
    lizard
    (Anolis carolinensis)
    Reptilia MAN1A26
    Uncharacterized protein
    84(a)
    1 ↔ 1
    GL343218.1(331057-367064)
    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
    53.62(n)1
    51.97(a)1
      319571  NM_206676.21  NP_996399.11 
    worm
    (Caenorhabditis elegans)
    Secernentea C52E4.53
    D2030.11
    alpha 1,2, mannosidase3
    Protein D2030.11
    46(a)
    (best of 2)3
    54.91(n)1
    47.36(a)1
      V(11985739-11988071)3
    1725101  NM_059715.41  NP_492116.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MNS16
    Alpha-1,2-mannosidase involved in ER quality contr...
    31(a)
    1 → many
    X(667644-669293)


    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)
    About This Section
    Paralogs for MAN1A2 gene
    MAN1A12  MAN1C12  MAN1B12  
    6 SIMAP similar genes for MAN1A2 using alignment to 4 protein entries:     MA1A2_HUMAN (see all proteins):
    MAN1C1    pp6318    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) 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

    10/2765 SNPs in MAN1A2 are shown (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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 604345    OMIM disorders: --

    2 diseases for MAN1A2:    About MalaCards
    fanconi's anemia    anemia


    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)
    About This Section

    PubMed articles for MAN1A2 gene, integrated from 9 sources (see all 40):
    (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. (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. (2010)
    3. Screening for replication of genome-wide SNP associations in sporadic ALS. (PubMed id 18987618)1, 4 Cronin S....Hardiman O. (2008)
    4. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (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. (2004)
    6. TLR8-dependent TNF-(alpha) overexpression in Fanconi anemia group C cells. (PubMed id 19850743)1 Vanderwerf S.M....Bagby G.C. (2009)
    7. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
    8. Genome-wide association study of electrocardiographic and heart rate variability traits: the Framingham Heart Study. (PubMed id 17903306)4 Newton-Cheh C....Larson M.G. (2007)
    9. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    Aliases
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 10905 HGNC: 6822 AceView: MAN1A2 Ensembl:ENSG00000198162 euGenes: HUgn10905
    ECgene: MAN1A2 Kegg: 10905 H-InvDB: MAN1A2

    (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 MAN1A2 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 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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    About This Section

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