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MAN2C1 Gene

protein-coding   GIFtS: 60
GCID: GC15M075648

Mannosidase, Alpha, Class 2C, Member 1


(Previous symbols: MANA1, MANA)
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(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 2C, Member 11 2     MAN6A82
MANA1 2 3 5     Alpha-Mannosidase 2C12
MANA11 2 3     Mannosidase, Alpha 6A82
Alpha Mannosidase 6A8B2 3     Mannosidase, Alpha A, Cytoplasmic2
Alpha-D-Mannoside Mannohydrolase2 3     Mannosidase Alpha Class 2C Member 13
EC 3.2.1.243 8     

External Ids:    HGNC: 68271   Entrez Gene: 41232   Ensembl: ENSG000001404007   OMIM: 1545805   UniProtKB: Q9NTJ43   

Export aliases for MAN2C1 gene to outside databases

Previous GC identifers: GC15M071525 GC15M068739 GC15M073224 GC15M073363 GC15M073435 GC15M052406


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for MAN2C1 Gene:
MAN2C1 (mannosidase, alpha, class 2C, member 1) is a protein-coding gene. GO annotations related to this gene include carbohydrate binding and alpha-mannosidase activity.

summary for MAN2C1 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).




(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 at NCBI GenBank:
NC_000015.9  NT_010194.18  NC_018926.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MAN2C1 gene promoter:
         E2F-4   E2F-3a   E2F-5   GATA-3   E2F-2   E2F   E2F-1   HSF2   STAT3   ARP-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMAN2C1 promoter sequence
   Search Chromatin IP Primers for MAN2C1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MAN2C1


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

Entrez Gene cytogenetic band: 15q24.2   Ensembl cytogenetic band:  15q24.2   HGNC cytogenetic band: 15q24.2

MAN2C1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MAN2C1 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M075648:  view genomic region     (about GC identifiers)

Start:
75,648,133 bp from pter      End:
75,660,971 bp from pter
Size:
12,839 bases      Orientation:
minus 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: MA2C1_HUMAN, Q9NTJ4 (See protein sequence)
Recommended Name: Alpha-mannosidase 2C1  
Size: 1040 amino acids; 115835 Da
Cofactor: Binds 1 zinc ion per subunit (By similarity)
Sequence caution: Sequence=AAC00190.2; Type=Frameshift; Positions=1013; Sequence=AAC00568.1; Type=Frameshift;
Positions=1013;
Secondary accessions: H3BMX2 H3BQY8 H3BUT6 Q13358 Q68EM8 Q9UL64
Alternative splicing: 4 isoforms:  Q9NTJ4-1   Q9NTJ4-2   Q9NTJ4-3   Q9NTJ4-4   (Gene prediction based on EST data)

Explore the universe of human proteins at neXtProt for MAN2C1: NX_Q9NTJ4

Explore proteomics data for MAN2C1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys750
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for MAN2C1 (Q9NTJ4) (see all 5)
     KFLKVEFP  RPTHYNTSWD  CHIDTAWLWPF  LPDTFGYSAQLPQ 


    See MAN2C1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001243423.1  NP_001243424.1  NP_001243425.1  NP_006706.2  

    ENSEMBL proteins: 
     ENSP00000455998   ENSP00000457788   ENSP00000454589   ENSP00000267978   ENSP00000456914  
     ENSP00000390738   ENSP00000456667   ENSP00000456419   ENSP00000454406   ENSP00000456257  
     ENSP00000455788   ENSP00000455803   ENSP00000457833  

    MAN2C1 Human Recombinant Protein Products:

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    OriGene Purified Protein for MAN2C1
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    Novus Biologicals MAN2C1 Proteins
    Novus Biologicals MAN2C1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MAN2C1

     
    Search eBioscience for Proteins for MAN2C1 

     
    antibodies-online proteins for MAN2C1 (3 products) 

     
    Search antibodies-online for peptides for MAN2C1

    MAN2C1 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Abcam antibodies for MAN2C1
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    Search ThermoFisher Antibodies for MAN2C1
    antibodies-online antibodies for MAN2C1 (12 products) 

    MAN2C1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for MAN2C1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for MAN2C1
    Cloud-Clone Corp. CLIAs for MAN2C1
    Search eBioscience for ELISAs for MAN2C1 
    antibodies-online kits for MAN2C1 (6 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 6):
     IPR027291 Glyco_hydro_38/57_N
     IPR011682 Glyco_hydro_38_C
     IPR015341 Glyco_hydro_38_cen
     IPR000602 Glyco_hydro_38_N
     IPR011013 Gal_mutarotase_SF_dom

    Graphical View of Domain Structure for InterPro Entry Q9NTJ4

    ProtoNet protein and cluster: Q9NTJ4

    1 Blocks protein domain: IPB000602 Glycoside hydrolase

    UniProtKB/Swiss-Prot: MA2C1_HUMAN, Q9NTJ4
    Similarity: Belongs to the glycosyl hydrolase 38 family


    Find genes that share domains with MAN2C1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MA2C1_HUMAN, Q9NTJ4
    Catalytic activity: Hydrolysis of terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides

         Genatlas biochemistry entry for MAN2C1:
    alpha-mannosidase,class 2C,member 1,membrane type,cytoplasmic

         Enzyme Number (IUBMB): EC 3.2.1.241 2

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004553hydrolase activity, hydrolyzing O-glycosyl compounds ----
    GO:0004559alpha-mannosidase activity IEA--
    GO:0008270zinc ion binding IEA--
    GO:0015923mannosidase activity ----
         
    Find genes that share ontologies with MAN2C1           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for MAN2C1:
     Increased gamma-H2AX phosphory  Lamellipodia cells 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for MAN2C1

    miRNA
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    miRTarBase miRNAs that target MAN2C1:
    hsa-mir-744-5p (MIRT037546)

    Block miRNA regulation of human, mouse, rat MAN2C1 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate MAN2C1
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat MAN2C1

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for MAN2C1

    Clone
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    OriGene clones in human, mouse for MAN2C1 (see all 7)
    OriGene ORF clones in mouse, rat for MAN2C1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MAN2C1 (NM_006715)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MAN2C1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MAN2C1

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for MAN2C1 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAN2C1


    (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 COMPARTMENTS: 

    CompartmentConfidence
    extracellular2
    nucleus2
    cytosol1
    endoplasmic reticulum1
    mitochondrion1
    peroxisome1

    (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 MAN2C1 About    
    See pathways by source

    SuperPathContained pathways About
    1Other glycan degradation
    Other glycan degradation


    Find genes that share SuperPaths with MAN2C1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Kegg Pathway  (Kegg details for MAN2C1):
        Other glycan degradation

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MAN2C1
    Interactions:

        Search GeneGlobe Interaction Network for MAN2C1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 17)

    Selected Interacting proteins for MAN2C1 (Q9NTJ42, 3 ENSP000002679784) via UniProtKB, MINT, STRING, and/or I2D (see all 39)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000225748P486342, 3, ENSP000003874774MINT-62800 MINT-62626 MINT-62724 I2D: score=5 STRING: ENSP00000387477
    ENSG00000231825P486342, 3, ENSP000004153634MINT-62800 MINT-62626 MINT-62724 I2D: score=5 STRING: ENSP00000415363
    PRRC2AP486342, 3, ENSP000003651754MINT-62800 MINT-62626 MINT-62724 I2D: score=5 STRING: ENSP00000365175
    ENSG00000206427P486342, 3MINT-62800 MINT-62626 MINT-62724 I2D: score=5 
    ENSG00000225164P486342, 3MINT-62800 MINT-62626 MINT-62724 I2D: score=5 
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process ----
    GO:0006013mannose metabolic process IEA--

    Find genes that share ontologies with MAN2C1           About GenesLikeMe



    (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 MAN2C1 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]



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for MAN2C1 gene (4 alternative transcripts): 
    NM_001256494.1  NM_001256495.1  NM_001256496.1  NM_006715.3  

    Unigene Clusters for MAN2C1:

    Mannosidase, alpha, class 2C, member 1
    Hs.26232  [show with all ESTs], Hs.598731  [show with all ESTs]
    Unigene Representative Sequences: BX647111, BC010081
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 42):
    ENST00000562067 ENST00000564929 ENST00000569482 ENST00000565683(uc002bah.3)
    ENST00000563622(uc010bkk.3) ENST00000267978(uc002baf.3 uc002bag.3 uc010umi.1 uc010umj.1)
    ENST00000561693 ENST00000566099 ENST00000566569 ENST00000563528 ENST00000567163
    ENST00000564570 ENST00000564785 ENST00000567360 ENST00000563441 ENST00000563368
    ENST00000569176 ENST00000566013
    miRNA
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    Search for qRT-PCR Assays for microRNAs that regulate MAN2C1
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    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for MAN2C1
    Predesigned siRNA for gene silencing in human, mouse, rat MAN2C1
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MAN2C1 (NM_006715)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MAN2C1
    Primer
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    OriGene qPCR primer pairs and template standards for MAN2C1
    OriGene qSTAR qPCR primer pairs in human, mouse for MAN2C1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MAN2C1
      QuantiTect SYBR Green Assays in human, mouse, rat MAN2C1
      QuantiFast Probe-based Assays in human, mouse, rat MAN2C1

    Additional mRNA sequence: BC010081.2 

    Selected DOTS entries (see all 39):

    DT.100830878  DT.75103591  DT.100784834  DT.102839744  DT.100037002  DT.100772863  DT.87017892  DT.99938837 
    DT.95285978  DT.75103192  DT.95134376  DT.102839743  DT.121052819  DT.101984918  DT.87016070  DT.91758163 
    DT.100801898  DT.100801902  DT.121052738  DT.121052767  DT.40257454  DT.95294448  DT.95313666  DT.100801909 

    23 AceView cDNA sequences:

    CD108955 BC010081 AA236459 BM542205 BF439747 AA460369 AA774591 CD251769 
    AA460970 AI038103 AI564808 BF972814 AW195462 AW137397 CA444315 BU660448 
    AW204250 BX111851 AA476633 AA461280 AA234078 C75138 AA460803 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for MAN2C1 (see all 27)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c · 6d ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b · 11c · 11d ^
    SP1:              -                 -                       -                                               -     -                       -     -               
    SP2:              -                 -                       -                                               -     -                       -     -               
    SP3:              -                 -                                                                                                                           
    SP4:              -                 -                       -                                                                                                   
    SP5:                                                        -                                                     -                                             

    ExUns: 12 ^ 13a · 13b ^ 14a · 14b · 14c ^ 15 ^ 16a · 16b ^ 17a · 17b · 17c ^ 18a · 18b ^ 19 ^ 20 ^ 21a · 21b · 21c ^ 22 ^ 23a · 23b ^ 24a · 24b · 24c ^ 25a ·
    SP1:                                -           -           -                       -           -     -                                                     -   
    SP2:                                -           -           -                       -           -     -                                                     -   
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 25b · 25c · 25d ^ 26 ^ 27a · 27b ^ 28a · 28b · 28c ^ 29
    SP1:  -           -                                             
    SP2:  -           -           -                                 
    SP3:                                                            
    SP4:                                                            
    SP5:                                                            


    ECgene alternative splicing isoforms for MAN2C1

    (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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    MAN2C1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGGCCCACAA
    MAN2C1 Expression
    About this image


    MAN2C1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 16) fully expand
     
     Brain (Nervous System)
             Cerebral Cortex
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Colon (Gastrointestinal Tract)
     
     Uterus (Reproductive System)
     
     Thyroid (Endocrine System)
    MAN2C1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MAN2C1 Protein Expression

    SOURCE GeneReport for Unigene clusters: Hs.26232 Hs.598731
        Custom PCR Arrays for MAN2C1
    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat MAN2C1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAN2C1

    (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 MAN2C1 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Man2c11 , 5 mannosidase, alpha, class 2C, member 11, 5 87.22(n)1
    90.15(a)1
      9 (30.89 cM)5
    737441  NM_028636.21  NP_082912.11 
     571306905 
    chicken
    (Gallus gallus)
    Aves MAN2C16
    Gallus gallus mannosidase, alpha, class 2C, member...
    71(a)
    1 ↔ 1
    10(2141628-2154377)
    lizard
    (Anolis carolinensis)
    Reptilia MAN2C16
    mannosidase, alpha, class 2C, member 1
    61(a)
    1 ↔ 1
    AAWZ02040306(3769-5633)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia man2c11 mannosidase, alpha, class 2C, member 1 63.34(n)
    65.28(a)
      100036651  NM_001097209.1  NP_001090678.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BM316533.12   -- 75.23(n)    BM316533.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes AMS1(YGL156W)4
    AMS11
    Vacuolar alpha mannosidase, involved in free oligosaccharide more4
    AMS11
    44.96(n)1
    39.24(a)1
      7(210416-213667)4
    8527211, 4  NP_011359.11, 4 


    ENSEMBL Gene Tree for MAN2C1 (if available)
    TreeFam Gene Tree for MAN2C1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MAN2C1 gene
    5 SIMAP similar genes for MAN2C1 using alignment to 9 protein entries:     MA2C1_HUMAN (see all proteins):
    TNNT1    TUBA1C    ZNF799    EEF1E1    C12orf76

    Find genes that share paralogs with MAN2C1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MAN2C1 (see all 464)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1421765511,2
    Cuntested175648663(+) AATACG/AACCGC 8 /V syn11Minor allele frequency- A:0.00NA 3214
    rs1892848761,2
    --75648098(+) CAAGCA/GTGAGG 4 -- int10--------
    rs57459331,2
    C,F,H--75648138(+) TTCCCG/AATCCA 4 -- ut315Minor allele frequency- A:0.01NS EA 588
    rs2005479801,2
    C--75648207(+) GGAGTC/TCCCAG 4 -- ut310--------
    rs11289781,2
    H--75648299(-) CTTTTC/TTCCCT 8 S F mis1 ese3 trp34Minor allele frequency- T:0.00MN NS NA 388
    rs1996371321,2
    --75648356(+) CTGGTA/CGCTCC 8 R L mis10--------
    rs1822118021,2
    C--75648361(+) CGCTCC/TAAGAG 8 L syn10--------
    rs2012386291,2
    C--75648381(+) GGAGAA/GCAGGA 4 -- int10--------
    rs1868469621,2
    C--75648419(+) GACTCA/GACCCC 4 -- int10--------
    rs2007164011,2
    C--75648425(+) ACCCCC/TGCCCC 4 -- int10--------

    HapMap Linkage Disequilibrium report for MAN2C1 (75648133 - 75660971 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for MAN2C1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2749894CNV Deletion23290073
    nsv1615CNV Insertion18451855
    nsv904386CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MAN2C1
    DNA2.0 Custom Variant and Variant Library Synthesis for MAN2C1

    (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: 154580    OMIM disorders: --


    Find genes that share disorders with MAN2C1           About GenesLikeMe


    Export disorders for MAN2C1 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 MAN2C1 gene, integrated from 10 sources (see all 51):
    (articles sorted by number of sources associating them with MAN2C1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2 Wiemann S.... Poustka A. (Genome Res. 2001)
    3. 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 Moremen K.W. and Robbins P.W. (J. Cell Biol. 1991)
    4. Assignment of cytoplasmic alpha-mannosidase (MANA) and confirmation of mitochondrial isocitrate dehydrogenase (IDHM) to the q11 leads to qter region of chromosome 15 in man. (PubMed id 752528)1, 3 Champion M.J....Shows T.B. (Cytogenet. Cell Genet. 1978)
    5. Inhibition of alpha-mannosidase Man2c1 gene expression suppresses growth of esophageal carcinoma cells through mitotic arrest and apoptosis. (PubMed id 19018777)1, 9 Tian Y....Zhu L.P. (Cancer Sci. 2008)
    6. Inhibition of the alpha-mannosidase Man2c1 gene expression enhances adhesion of Jurkat cells. (PubMed id 16721356)1, 9 Qu L....Zhu L.P. (Cell Res. 2006)
    7. Dual functions for cytosolic I+-mannosidase (Man2C1): its down-regulation causes mitochondria-dependent apoptosis independently of its I+-mannosidase activity. (PubMed id 23486476)1 Wang L. and Suzuki T. (J. Biol. Chem. 2013)
    8. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (Sci Signal 2012)
    9. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    10. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)

    (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: 4123 HGNC: 6827 AceView: MAN2C1.1 Ensembl:ENSG00000140400 euGenes: HUgn4123
    ECgene: MAN2C1 Kegg: 4123 H-InvDB: MAN2C1

    (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 MAN2C1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MAN2C1 gene:
    Search GeneIP for patents involving MAN2C1

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



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