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MED17 Gene

protein-coding   GIFtS: 58
GCID: GC11P093517

Mediator Complex Subunit 17

(Previous names: cofactor required for Sp1 transcriptional activation, subunit...)
(Previous symbol: CRSP6)
  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
Mediator Complex Subunit 171 2 3     ARC772 3
CRSP61 2 3 5     CRSP Complex Subunit 62 3
DRIP802 3 5     CRSP772 5
TRAP802 3 5     Cofactor Required For Sp1 Transcriptional Activation, Subunit 6 (77kD)1
Cofactor Required For Sp1 Transcriptional Activation, Subunit 6, 77kDa1 2     Mediator Of RNA Polymerase II Transcription Subunit 172
Activator-Recruited Cofactor 77 KDa Component2 3     DRIP773
Thyroid Hormone Receptor-Associated Protein Complex 80 KDa Component2 3     Trap803
Transcriptional Coactivator CRSP772 3     Cofactor Required For Sp1 Transcriptional Activation Subunit 63
Vitamin D3 Receptor-Interacting Protein Complex 80 KDa Component2 3     

External Ids:    HGNC: 23751   Entrez Gene: 94402   Ensembl: ENSG000000424297   OMIM: 6038105   UniProtKB: Q9NVC63   

Export aliases for MED17 gene to outside databases

Previous GC identifers: GC11P093158 GC11P089594


(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 MED17 Gene:
The activation of gene transcription is a multistep process that is triggered by factors that recognize
transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation
by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required
for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein
is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which
interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and
cofactors. (provided by RefSeq, Jul 2008)

GeneCards Summary for MED17 Gene:
MED17 (mediator complex subunit 17) is a protein-coding gene. Diseases associated with MED17 include microcephaly, postnatal progressive, with seizures and brain atrophy, and conjunctivitis. GO annotations related to this gene include transcription coactivator activity and transcription cofactor activity.

UniProtKB/Swiss-Prot: MED17_HUMAN, Q9NVC6
Function: Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all
RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific
regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by
direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional
preinitiation complex with RNA polymerase II and the general transcription factors

Gene Wiki entry for MED17 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_000011.10  NT_033899.9  NC_018922.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MED17 gene promoter:
         Sox5   POU3F1   HNF-4alpha2   LCR-F1   HNF-4alpha1   PPAR-alpha   PPAR-gamma1   FOXO1a   PPAR-gamma2   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMED17 promoter sequence
   Search Chromatin IP Primers for MED17

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MED17


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

Entrez Gene cytogenetic band: 11q14   Ensembl cytogenetic band:  11q21   HGNC cytogenetic band: 11q21

MED17 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MED17 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P093517:  view genomic region     (about GC identifiers)

Start:
93,517,393 bp from pter      End:
93,547,861 bp from pter
Size:
30,469 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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: MED17_HUMAN, Q9NVC6 (See protein sequence)
Recommended Name: Mediator of RNA polymerase II transcription subunit 17  
Size: 651 amino acids; 72890 Da
Subunit: Interacts with GATA1 and PPARG (By similarity). Component of the Mediator complex, which is composed of
MED1, MED4, MED6, MED7, MED8, MED9, MED10, MED11, MED12, MED13, MED13L, MED14, MED15, MED16, MED17, MED18, MED19,
MED20, MED21, MED22, MED23, MED24, MED25, MED26, MED27, MED29, MED30, MED31, CCNC, CDK8 and CDC2L6/CDK11. The
MED12, MED13, CCNC and CDK8 subunits form a distinct module termed the CDK8 module. Mediator containing the CDK8
module is less active than Mediator lacking this module in supporting transcriptional activation. Individual
preparations of the Mediator complex lacking one or more distinct subunits have been variously termed ARC, CRSP,
DRIP, PC2, SMCC and TRAP. Interacts with STAT2
Sequence caution: Sequence=AAD30856.1; Type=Frameshift; Positions=333, 335, 341, 346;
Secondary accessions: B3KN07 Q9HA81 Q9UNP7 Q9Y2W0 Q9Y660
Alternative splicing: 2 isoforms:  Q9NVC6-1   Q9NVC6-2   

Explore the universe of human proteins at neXtProt for MED17: NX_Q9NVC6

Explore proteomics data for MED17 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys123, Lys178, Lys623
  • Modification sites at PhosphoSitePlus

  • See MED17 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_004259.3  
    ENSEMBL proteins: 
     ENSP00000251871   ENSP00000434459   ENSP00000431524   ENSP00000433090   ENSP00000433626  
    Reactome Protein details: Q9NVC6

    MED17 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for MED17
    OriGene Custom MassSpec
    OriGene Custom Protein Services for MED17
    GenScript Custom Purified and Recombinant Proteins Services for MED17
    Novus Biologicals MED17 Proteins
    Novus Biologicals MED17 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MED17

    MED17 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for MED17
    OriGene Custom Antibody Services for MED17
    Novus Biologicals MED17 Antibodies
    Abcam antibodies for MED17
    Cloud-Clone Corp. Antibodies for MED17
    ThermoFisher Antibody for MED17
    LSBio Antibodies in human, mouse, rat for MED17

    MED17 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for MED17
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for MED17
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for MED17
    Cloud-Clone Corp. CLIAs for MED17


    (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:
     IPR019313 Mediator_Med17

    Graphical View of Domain Structure for InterPro Entry Q9NVC6

    ProtoNet protein and cluster: Q9NVC6

    UniProtKB/Swiss-Prot: MED17_HUMAN, Q9NVC6
    Similarity: Belongs to the Mediator complex subunit 17 family


    MED17 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: MED17_HUMAN, Q9NVC6
    Function: Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all
    RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific
    regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by
    direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional
    preinitiation complex with RNA polymerase II and the general transcription factors

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001104RNA polymerase II transcription cofactor activity IDA10198638
    GO:0003712transcription cofactor activity IDA12218053
    GO:0003713transcription coactivator activity IDA12037571
    GO:0004872receptor activity IDA12218053
    GO:0030374ligand-dependent nuclear receptor transcription coactivator activity NAS10235266
         
    MED17 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for MED17:
     Decreased POU5F1-GFP protein e 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MED17
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for MED17

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MED17
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MED17

    miRNA
    Products:
        
    miRTarBase miRNAs that target MED17:
    hsa-mir-185-5p (MIRT045353)

    Block miRNA regulation of human, mouse, rat MED17 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MED17 (see all 23):
    hsa-miR-142-5p hsa-miR-607 hsa-miR-875-3p hsa-miR-106a hsa-miR-340 hsa-miR-218 hsa-miR-93 hsa-miR-330-3p
    SwitchGear 3'UTR luciferase reporter plasmidMED17 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for MED17
    Predesigned siRNA for gene silencing in human, mouse, rat MED17

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for MED17

    Clone
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    OriGene clones in human, mouse for MED17 (see all 7)
    OriGene ORF clones in mouse, rat for MED17
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MED17 (NM_004268)
    Sino Biological Human cDNA Clone for MED17
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MED17
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MED17

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for MED17
    Browse ESI BIO Cell Lines and PureStem Progenitors for MED17 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MED17


    (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
    MED17_HUMAN, Q9NVC6: Nucleus (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA10235267
    GO:0005654nucleoplasm TAS--
    GO:0005667transcription factor complex IDA9989412
    GO:0016592mediator complex IDA10198638

    MED17 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 MED17 About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Fatty acid, triacylglycerol, and ketone body metabolism
    Fatty acid, triacylglycerol, and ketone body metabolism0.65
    PPARA Activates Gene Expression0.63
    Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)0.65
    Transcriptional Regulation of White Adipocyte Differentiation0.38
    2Gene Expression
    Generic Transcription Pathway0.40
    Gene Expression0.40
    3Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    4L1CAM interactions
    Developmental Biology0.63
    5Transcription Ligand Dependent Transcription of Retinoid Target genes
    Transcription Ligand Dependent Transcription of Retinoid Target genes

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for MED17
        Transcription Ligand-Dependent Transcription of Retinoid-Target genes


    3 Reactome Pathways for MED17
        Transcriptional regulation of white adipocyte differentiation
    Generic Transcription Pathway
    PPARA activates gene expression


    1 Kegg Pathway  (Kegg details for MED17):
        Thyroid hormone signaling pathway


    MED17 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including MED17: 
              Nuclear Receptors & Coregulators in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for MED17

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

    Selected Interacting proteins for MED17 (Q9NVC62, 3 ENSP000002518714) via UniProtKB, MINT, STRING, and/or I2D (see all 160)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KAT2AQ928302, 3, ENSP000002259164MINT-6744331 I2D: score=1 STRING: ENSP00000225916
    MED1Q156482, 3, ENSP000003006514MINT-6744331 I2D: score=1 STRING: ENSP00000300651
    MED14O602442, 3, ENSP000003237204MINT-6744331 I2D: score=1 STRING: ENSP00000323720
    TRRAPQ9Y4A52, 3, ENSP000003477334MINT-6744331 I2D: score=1 STRING: ENSP00000347733
    MED12Q930742, 3, ENSP000003631934MINT-6744331 I2D: score=1 STRING: ENSP00000363193
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006357regulation of transcription from RNA polymerase II promoter IDA9989412
    GO:0006367transcription initiation from RNA polymerase II promoter TAS--
    GO:0010467gene expression TAS--
    GO:0019827stem cell maintenance IEA--
    GO:0030518intracellular steroid hormone receptor signaling pathway IDA11867769

    MED17 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 MED17



    (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,
    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 MED17 gene: 
    NM_004268.4  

    Unigene Cluster for MED17:

    Mediator complex subunit 17
    Hs.444931  [show with all ESTs]
    Unigene Representative Sequence: NM_004268
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000251871(uc001pem.4) ENST00000530819(uc001pel.2) ENST00000533359
    ENST00000533133 ENST00000528786 ENST00000525026 ENST00000533367 ENST00000507258
    ENST00000531920 ENST00000525613 ENST00000529626
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat MED17 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MED17 (see all 23):
    hsa-miR-142-5p hsa-miR-607 hsa-miR-875-3p hsa-miR-106a hsa-miR-340 hsa-miR-218 hsa-miR-93 hsa-miR-330-3p
    SwitchGear 3'UTR luciferase reporter plasmidMED17 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for MED17
    Predesigned siRNA for gene silencing in human, mouse, rat MED17
    Clone
    Products:
         
    OriGene clones in human, mouse for MED17 (see all 7)
    OriGene ORF clones in mouse, rat for MED17
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MED17 (NM_004268)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MED17
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MED17
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for MED17
    OriGene qSTAR qPCR primer pairs in human, mouse for MED17
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MED17
      QuantiTect SYBR Green Assays in human, mouse, rat MED17
      QuantiFast Probe-based Assays in human, mouse, rat MED17

    Additional mRNA sequence: 

    AF104254.1 AF105421.1 AF117657.2 AK001674.1 AK023209.1 AK299702.1 BC021101.1 

    17 DOTS entries:

    DT.444693  DT.97794521  DT.100689424  DT.120738262  DT.100754659  DT.91755009  DT.100766972  DT.120738114 
    DT.120738151  DT.120738132  DT.100754655  DT.120738173  DT.120738179  DT.70102891  DT.100775947  DT.120738187 
    DT.91843376 

    Selected AceView cDNA sequences (see all 197):

    AI439124 BM719539 CR604067 AW242072 BQ219561 NM_004268 AI921279 AA429141 
    AA280718 BX350721 AA889373 AI733527 BX099106 AA832410 CA868265 BC021101 
    AI655718 AA903578 BQ181817 AK001674 BX328343 AI266196 AW135298 AA565681 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for MED17 (see all 10)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c ^ 10a · 10b ^ 11a · 11b · 11c · 11d ^ 12a · 12b · 12c ^ 13 ^
    SP1:                    -                       -                 -     -           -                             -                       -                     
    SP2:                                                              -     -     -     -                             -                       -                     
    SP3:                                            -                 -     -     -     -                             -                                             
    SP4:                                                                                                              -                                             
    SP5:                                                                    -           -                                                                           

    ExUns: 14a · 14b
    SP1:            
    SP2:            
    SP3:            
    SP4:            
    SP5:            


    ECgene alternative splicing isoforms for MED17

    (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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    MED17 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    MED17 Expression
    About this image

    MED17 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MED17 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.444931

    UniProtKB/Swiss-Prot: MED17_HUMAN, Q9NVC6
    Tissue specificity: Ubiquitous

        Pathway & Disease-focused RT2 Profiler PCR Array including MED17: 
              Nuclear Receptors & Coregulators in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for MED17
    OriGene qSTAR qPCR primer pairs in human, mouse for MED17
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MED17
    QuantiTect SYBR Green Assays in human, mouse, rat MED17
    QuantiFast Probe-based Assays in human, mouse, rat MED17
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MED17

    (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.

    Orthologs for MED17 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Med171 , 5 mediator complex subunit 171, 5 86.44(n)1
    95.99(a)1
      9 (4.74 cM)5
    2349591  NM_144933.11  NP_659182.11 
     152603525 
    chicken
    (Gallus gallus)
    Aves MED171 mediator complex subunit 17 80.25(n)
    91.07(a)
      419000  NM_001006280.1  NP_001006280.1 
    lizard
    (Anolis carolinensis)
    Reptilia MED176
    mediator complex subunit 17
    89(a)
    1 ↔ 1
    3(196080759-196094570)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.101922 Transcribed sequence with weak similarity to protein more 77.33(n)    142000488 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc733072 hypothetical protein MGC73307 76.13(n)   393756  AJ006838.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta MED171 Mediator complex subunit 17 50.24(n)
    45.38(a)
      42175  NM_142429.3  NP_650686.1 
    worm
    (Caenorhabditis elegans)
    Secernentea mdt-171 mdt-17 41.28(n)
    28.09(a)
      180325  NM_001269981.1  NP_001256910.1 


    ENSEMBL Gene Tree for MED17 (if available)
    TreeFam Gene Tree for MED17 (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 MED17 (see all 725)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0650664
    Microcephaly, postnatal progressive, with seizures and brain atrophy (MCPHSBA)4--see VAR_0650662 L P mis40--------
    rs1410443431,2
    C--93385934(+) GTTGGC/GAACAA 1 -- us2k10--------
    rs1923944251,2
    --93386123(+) TACTTC/TCAGGA 1 -- us2k10--------
    rs1849850101,2
    --93386154(+) AGGTTA/GTGCTT 1 -- us2k10--------
    rs1889629011,2
    --93386198(+) AACCTA/GCAAAT 1 -- us2k10--------
    rs6642571,2
    C,F,A,H--93386234(-) CACAGA/GATGAA 1 -- us2k123Minor allele frequency- G:0.23NS EA NA WA CSA 2337
    rs1154873591,2
    C,F--93386296(+) GAAGAT/CGTTAT 1 -- us2k11Minor allele frequency- C:0.03WA 118
    rs1498170481,2
    C--93386419(+) TTTTGA/GCATAC 1 -- us2k10--------
    rs14289191,2
    C,F,O,A,H--93386541(+) CAACTT/AACCTT 1 -- us2k1 tfbs316Minor allele frequency- A:0.46NS EA NA WA 928
    rs6391001,2
    C--93386621(+) GCTTTA/GCTTAT 1 -- us2k112Minor allele frequency- G:0.01NA WA CSA EA 374

    HapMap Linkage Disequilibrium report for MED17 (93517393 - 93547861 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for MED17:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv898173CNV Loss21882294
    nsv832232CNV Gain17160897
    nsv898182CNV Gain21882294
    nsv898181CNV Gain21882294

    Human Gene Mutation Database (HGMD): MED17
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MED17
    DNA2.0 Custom Variant and Variant Library Synthesis for MED17

    (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.)
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    OMIM gene information: 603810   
    OMIM disorders: 613668  
    UniProtKB/Swiss-Prot: MED17_HUMAN, Q9NVC6
  • Microcephaly, postnatal progressive, with seizures and brain atrophy (MCPHSBA) [MIM:613668]: A disorder
    characterized by postnatal progressive microcephaly and severe developmental retardation associated with cerebral
    and cerebellar atrophy. Infants manifest swallowing difficulties leading to failure to thrive, jitteriness, poor
    visual fixation, truncal arching, seizures. There is no acquisition of developmental milestones and patients
    suffer from marked spasticity and profound retardation. Progressive microcephaly becomes evident few months after
    birth. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 12 diseases for MED17:    About MalaCards
    microcephaly, postnatal progressive, with seizures and brain atrophy    conjunctivitis    microcephaly    thyroiditis
    spasticity    cerebritis    hypoxia    melanoma
    multiple myeloma    myeloma    malaria    breast cancer


    MED17 for disorders           About GeneDecksing


    Export disorders for MED17 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 MED17 gene, integrated from 10 sources (see all 60):
    (articles sorted by number of sources associating them with MED17)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The transcriptional cofactor complex CRSP is required for activity of the enhancer-binding protein Sp1. (PubMed id 9989412)1, 2, 3 Ryu S.... Tjian R. (Nature 1999)
    2. Identity between TRAP and SMCC complexes indicates novel pathways for the function of nuclear receptors and diverse mammalian activators. (PubMed id 10198638)1, 2, 3 Ito M.... Roeder R.G. (Mol. Cell 1999)
    3. Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex. (PubMed id 20950787)1, 2 Kaufmann R.... Elpeleg O. (Am. J. Hum. Genet. 2010)
    4. MED1/TRAP220 exists predominantly in a TRAP/Mediator subpopulation enriched in RNA polymerase II and is required for ER-mediated transcription. (PubMed id 15989967)1, 2 Zhang X....Roeder R.G. (Mol. Cell 2005)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. 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)
    7. A set of consensus mammalian mediator subunits identified by multidimensional protein identification technology. (PubMed id 15175163)1, 2 Sato S.... Conaway R.C. (Mol. Cell 2004)
    8. Identification of mammalian Mediator subunits with similarities to yeast Mediator subunits Srb5, Srb6, Med11, and Rox3. (PubMed id 12584197)1, 2 Sato S....Conaway J.W. (J. Biol. Chem. 2003)
    9. Role of metazoan mediator proteins in interferon-responsive transcription. (PubMed id 12509459)1, 2 Lau J.F.... Horvath C.M. (Mol. Cell. Biol. 2003)
    10. Ligand-dependent transcription activation by nuclear receptors requires the DRIP complex. (PubMed id 10235266)1, 2 Rachez C.... Freedman L.P. (Nature 1999)

    (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: 9440 HGNC: 2375 AceView: CRSP6 Ensembl:ENSG00000042429 euGenes: HUgn9440
    ECgene: MED17 Kegg: 9440 H-InvDB: MED17

    (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 MED17 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 MED17 gene:
    Search GeneIP for patents involving MED17

    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
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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