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MEPCE Gene

protein-coding   GIFtS: 49
GCID: GC07P100026

Methylphosphate Capping Enzyme

(Previous names: bin3, bicoid-interacting 3, homolog (Drosophila))
(Previous symbol: BCDIN3)
  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
Methylphosphate Capping Enzyme1 2     7SK SnRNA Methylphosphate Capping Enzyme2
BCDIN31 2 3 5     Bin3, Bicoid-Interacting 3, Homolog2
Bicoid-Interacting Protein 3 Homolog2 3     EC 2.1.1.-3
Bin3 Homolog2 3     MePCE3
Bin3, Bicoid-Interacting 3, Homolog (Drosophila)1     

External Ids:    HGNC: 202471   Entrez Gene: 562572   Ensembl: ENSG000001468347   OMIM: 6114785   UniProtKB: Q7L2J03   

Export aliases for MEPCE gene to outside databases

Previous GC identifers: GC07P099866 GC07P094659


(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 MEPCE Gene:
MEPCE (methylphosphate capping enzyme) is a protein-coding gene. Diseases associated with MEPCE include pthirus pubis infestation, and chronic myeloid leukemia. GO annotations related to this gene include S-adenosylmethionine-dependent methyltransferase activity and RNA methyltransferase activity.

UniProtKB/Swiss-Prot: MEPCE_HUMAN, Q7L2J0
Function: S-adenosyl-L-methionine-dependent methyltransferase that adds a methylphosphate cap at the 5'-end of 7SK
snRNA, leading to stabilize it




(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_000007.14  NC_018918.2  NT_007933.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the MEPCE gene promoter:
         Nkx2-5   Roaz   C/EBPalpha   Egr-2   CREB   HOXA5   deltaCREB   FOXO1a   Zic3   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): MEPCE promoter sequence
   Search Chromatin IP Primers for MEPCE

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


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

Entrez Gene cytogenetic band: 7q22.1   Ensembl cytogenetic band:  7q22.1   HGNC cytogenetic band: 7q22.1

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

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P100026:  view genomic region     (about GC identifiers)

Start:
100,026,413 bp from pter      End:
100,031,749 bp from pter
Size:
5,337 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 99,386,498-99,391,834     

(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: MEPCE_HUMAN, Q7L2J0 (See protein sequence)
Recommended Name: 7SK snRNA methylphosphate capping enzyme  
Size: 689 amino acids; 74355 Da
Subunit: Component of the 7SK snRNP complex at least composed of P-TEFb (composed of CDK9 and CCNT1/cyclin-T1),
HEXIM1, HEXIM2, MEPCE/BCDIN3, SART3 proteins and 7SK and U6 snRNAs
Sequence caution: Sequence=AAF74767.1; Type=Erroneous initiation; Sequence=AAH16396.1; Type=Erroneous initiation;
Sequence=BAA91040.1; Type=Erroneous initiation;
1 PDB 3D structure from and Proteopedia for MEPCE:
3G07 (3D)    
Secondary accessions: B3KP86 D6W5V7 Q9NPD4
Alternative splicing: 2 isoforms:  Q7L2J0-1   Q7L2J0-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MEPCE: NX_Q7L2J0

Explore proteomics data for MEPCE at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys635
  • Modification sites at PhosphoSitePlus

  • See MEPCE Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001181919.1  NP_001181920.1  NP_001181921.1  NP_062552.2  

    ENSEMBL proteins: 
     ENSP00000400875   ENSP00000308546  

    MEPCE Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for MEPCE
    OriGene Protein Over-expression Lysate for MEPCE
    OriGene MassSpec for MEPCE
    OriGene Custom Protein Services for MEPCE
    GenScript Custom Purified and Recombinant Proteins Services for MEPCE
    Novus Biologicals MEPCE Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MEPCE

    MEPCE Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for MEPCE
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    Novus Biologicals MEPCE Antibodies
    Abcam antibodies for MEPCE
    Cloud-Clone Corp. Antibodies for MEPCE
    ThermoFisher Antibodies for MEPCE
    LSBio Antibodies in human, mouse, rat for MEPCE

    MEPCE Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for MEPCE
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for MEPCE
    Cloud-Clone Corp. CLIAs for MEPCE


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR010675 Bin3
     IPR024160 BIN3_SAM-bd_dom

    Graphical View of Domain Structure for InterPro Entry Q7L2J0

    ProtoNet protein and cluster: Q7L2J0

    UniProtKB/Swiss-Prot: MEPCE_HUMAN, Q7L2J0
    Similarity: Belongs to the methyltransferase superfamily
    Similarity: Contains 1 Bin3-type SAM domain


    MEPCE 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: MEPCE_HUMAN, Q7L2J0
    Function: S-adenosyl-L-methionine-dependent methyltransferase that adds a methylphosphate cap at the 5'-end of 7SK
    snRNA, leading to stabilize it

         Enzyme Number (IUBMB): EC 2.1.1.-1

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008168methyltransferase activity ----
    GO:0008173RNA methyltransferase activity IDA17643375
    GO:0008757S-adenosylmethionine-dependent methyltransferase activity IDA17643375
    GO:0044822poly(A) RNA binding IDA--
         
    MEPCE for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for MEPCE:
     Decreased viability with pacli  Increased circadian period len  Increased gamma-H2AX phosphory 

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

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

    miRNA
    Products:
        
    miRTarBase miRNAs that target MEPCE:
    hsa-mir-196b-5p (MIRT042658), hsa-mir-125b-5p (MIRT046065), hsa-mir-181b-5p (MIRT047259), hsa-mir-671-5p (MIRT039292), hsa-mir-193b-3p (MIRT041225), hsa-mir-7-5p (MIRT025825), hsa-let-7a-5p (MIRT052367), hsa-mir-16-5p (MIRT031627)

    Block miRNA regulation of human, mouse, rat MEPCE using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MEPCE (see all 13):
    hsa-miR-513a-5p hsa-miR-27a hsa-miR-26b* hsa-miR-545 hsa-miR-181a-2* hsa-miR-218 hsa-miR-132 hsa-miR-455-3p
    SwitchGear 3'UTR luciferase reporter plasmidMEPCE 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for MEPCE
    Predesigned siRNA for gene silencing in human, mouse, rat MEPCE

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for MEPCE

    Clone
    Products:
         
    OriGene clones in human, mouse for MEPCE (see all 10)
    OriGene ORF clones in mouse, rat for MEPCE
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): MEPCE (NM_019606)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MEPCE
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MEPCE

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for MEPCE
    Browse ESI BIO Cell Lines and PureStem Progenitors for MEPCE 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MEPCE


    (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
    nucleus3
    cytosol2

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

        Search GeneGlobe Interaction Network for MEPCE

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for MEPCE (Q7L2J03 ENSP000003085464) via UniProtKB, MINT, STRING, and/or I2D (see all 195)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000228881Q128993, ENSP000004153284I2D: score=1 STRING: ENSP00000415328
    ENSG00000137313Q128993I2D: score=1 
    ENSG00000224774P678703, ENSP000004156154I2D: score=1 STRING: ENSP00000415615
    ENSG00000226060Q128993I2D: score=1 
    ENSG00000230230Q128993I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
    GO:0001510RNA methylation IDA17643375
    GO:0016073snRNA metabolic process IDA17643375
    GO:0035562negative regulation of chromatin binding IEA--
    GO:0040031snRNA modification IDA17643375

    MEPCE 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 

    Browse Tocris compounds for MEPCE

    1 HMDB Compound for MEPCE    About this table
    CompoundSynonyms CAS #PubMed Ids
    S-Adenosylmethionine(3S)-5'-[(3-amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine (see all 16)29908-03-0--



    (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 MEPCE gene (4 alternative transcripts): 
    NM_001194990.1  NM_001194991.1  NM_001194992.1  NM_019606.5  

    Unigene Cluster for MEPCE:

    Methylphosphate capping enzyme
    Hs.178011  [show with all ESTs]
    Unigene Representative Sequence: BC016396
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000497759 ENST00000414441(uc022ain.1 uc022aio.1 uc003uuv.3)
    ENST00000479201 ENST00000310512(uc003uuw.3)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat MEPCE using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MEPCE (see all 13):
    hsa-miR-513a-5p hsa-miR-27a hsa-miR-26b* hsa-miR-545 hsa-miR-181a-2* hsa-miR-218 hsa-miR-132 hsa-miR-455-3p
    SwitchGear 3'UTR luciferase reporter plasmidMEPCE 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for MEPCE
    Predesigned siRNA for gene silencing in human, mouse, rat MEPCE
    Clone
    Products:
         
    OriGene clones in human, mouse for MEPCE (see all 10)
    OriGene ORF clones in mouse, rat for MEPCE
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): MEPCE (NM_019606)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MEPCE
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MEPCE
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for MEPCE
    OriGene qSTAR qPCR primer pairs in human, mouse for MEPCE
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MEPCE
      QuantiTect SYBR Green Assays in human, mouse, rat MEPCE
      QuantiFast Probe-based Assays in human, mouse, rat MEPCE

    Additional mRNA sequence: 

    AK000264.1 AK055964.1 AK291366.1 BC000556.2 BC016396.1 BC018935.2 

    17 DOTS entries:

    DT.443815  DT.217074  DT.101956832  DT.95366710  DT.100739462  DT.100817114  DT.121113959  DT.95215543 
    DT.95235351  DT.95235364  DT.100817106  DT.121113953  DT.121113955  DT.40107867  DT.92455077  DT.92455079 
    DT.92455073 

    Selected AceView cDNA sequences (see all 241):

    AW328515 BE264436 BM771857 AL042964 AW405615 BM751806 AV652613 AA310677 
    AI360974 BM771090 AI983467 AI476775 BM770322 BQ051555 CK904175 BQ962692 
    BG236334 AL532490 CD672398 BU185037 BM022000 BM760899 AA307695 CB152355 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for MEPCE (see all 7)    About this scheme

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


    ECgene alternative splicing isoforms for MEPCE

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


    MEPCE 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
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Pancreas (Endocrine System)
             Islets of Langerhans
    MEPCE Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MEPCE Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.178011

    UniProtKB/Swiss-Prot: MEPCE_HUMAN, Q7L2J0
    Tissue specificity: Expressed in chronic myeloid leukemia cells, adrenal gland, brain, cerebellum, kidney, lung,
    mammary gland and testis. Weakly or not expressed in other tissues

        Custom PCR Arrays for MEPCE
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for MEPCE
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MEPCE
    QuantiTect SYBR Green Assays in human, mouse, rat MEPCE
    QuantiFast Probe-based Assays in human, mouse, rat MEPCE
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MEPCE

    (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 eukaryotes.

    Orthologs for MEPCE gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mepce1 , 5 methylphosphate capping enzyme1, 5 86.99(n)1
    89.11(a)1
      5 (76.70 cM)5
    2318031  NM_144913.31  NP_659162.31 
     1377819065 
    lizard
    (Anolis carolinensis)
    Reptilia MEPCE6
    methylphosphate capping enzyme
    56(a)
    1 ↔ 1
    GL343895.1(862-10707)
    African clawed frog
    (Xenopus laevis)
    Amphibia BJ089409.12   -- 74.46(n)    BJ089409.1 
    zebrafish
    (Danio rerio)
    Actinopterygii CD752637.12   -- 78.15(n)    CD752637.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG12396
    bin36
    bicoid-interacting protein 3
    39(a)
    15(a)
    many → 1
    many → 1
    3R(1559263-1560424)
    2R(2102078-2127321)
    worm
    (Caenorhabditis elegans)
    Secernentea Y17G7B.186
    Protein Y17G7B.18, isoform b (Y17G7B.18) mRNA, com...
    38(a)
    1 ↔ 1
    II(12103417-12107857) WBGene00012469
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G511301 AT5G51130 47.88(n)
    43.63(a)
      835187  NM_124492.2  NP_568752.1 
    rice
    (Oryza sativa)
    Liliopsida Os08g05405001 Os08g0540500 46.83(n)
    39.43(a)
      4346188  NM_001068919.1  NP_001062384.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (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 MEPCE (see all 130)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2002575801,2
    --100028468(+) GGCAGC/TCGGAG 5 A V mis1 ut51 int10--------
    rs69621511,2
    C,F,A--100028484(+) GAGAGT/CCACCC 5 /S syn1 ut51 int1 ese39Minor allele frequency- C:0.22MN NA CSA WA EU 5999
    rs1398056991,2
    C--100028488(+) GTCACC/TCCGTG 5 P S mis1 ut51 int11Minor allele frequency- T:0.00NA 4474
    rs2018984801,2
    --100028490(+) CACCCC/TGTGCC 5 P syn1 ut51 int10--------
    rs2015635971,2
    --100028541(+) GCCTCA/GCAGCA 5 S syn1 ut51 int10--------
    rs2006843381,2
    --100028569(+) AGAACC/TGGGAT 5 R W mis1 ut51 int10--------
    rs1997117181,2
    C--100028667(+) GGCTCC/TCTATC 5 S syn1 ut510--------
    rs1484019181,2
    C,F--100028757(+) AAGTCG/TGAGGC 5 S syn1 ut512Minor allele frequency- T:0.01NA EU 5713
    rs2016549591,2
    --100028767(+) CAGGGG/TCTAGG 5 A S mis1 ut510--------
    rs2008158951,2
    --100028837(+) CCACCA/CCCCAC 5 H P mis1 ut510--------

    HapMap Linkage Disequilibrium report for MEPCE (100026413 - 100031749 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for MEPCE:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2734888CNV Deletion23290073
    dgv1226e199CNV Deletion23128226
    dgv7398n71CNV Loss21882294
    nsv527107CNV Loss19592680
    nsv831071CNV Loss17160897
    nsv888779CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
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    (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: 611478    OMIM disorders: --

    10 diseases for MEPCE:    
    About MalaCards
    pthirus pubis infestation    chronic myeloid leukemia    brain cancer    intrahepatic cholangiocarcinoma
    cholangiocarcinoma    myeloid leukemia    hiv-1    retinitis
    leukemia    malaria


    MEPCE for disorders           About GeneDecksing


    Export disorders for MEPCE 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 MEPCE gene, integrated from 10 sources (see all 40):
    (articles sorted by number of sources associating them with MEPCE)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Systematic analysis of the protein interaction network for the human transcription machinery reveals the identity of the 7SK capping enzyme. (PubMed id 17643375)1, 2, 3 Jeronimo C.... Coulombe B. (Mol. Cell 2007)
    2. Identification and characterization of a novel gene encoding a SEREX antigen in chronic myeloid leukaemia. (PubMed id 12358911)1, 2, 3 Rogers S.A.... Lim S.H. (Br. J. Haematol. 2002)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (Science 2003)
    5. Interlaboratory reproducibility of large-scale human protein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (Nat. Methods 2013)
    6. The protein interaction landscape of the human CMGC kinase group. (PubMed id 23602568)1 Varjosalo M....Gstaiger M. (Cell Rep 2013)
    7. The SOX2-interactome in brain cancer cells identifies the requirement of MSI2 and USP9X for the growth of brain tumor cells. (PubMed id 23667531)1 Cox J.L....Rizzino A. (PLoS ONE 2013)
    8. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    9. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (Sci Signal 2012)
    10. A high-throughput approach for measuring temporal changes in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (Nat. Methods 2012)

    (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: 56257 HGNC: 20247 AceView: FLJ20257 Ensembl:ENSG00000146834 euGenes: HUgn56257
    ECgene: MEPCE H-InvDB: MEPCE

    (According to HUGE)
    About This Section

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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)
    About This Section

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    NameDescription
    PharmGKB entry for MEPCE 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 MEPCE gene:
    Search GeneIP for patents involving MEPCE

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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