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

MED17 Gene

protein-coding   GIFtS: 52
GCID: GC11P093517

mediator complex subunit 17

(Previous names: cofactor required for Sp1 transcriptional activation, subunit...)
(Previous symbol: CRSP6)
 Explore 8 diseases affiliated with
MED17 via our new
 Human Malady Compendium 
Biological research products
for MED17
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Mediator Complex Subunit 171 2 3     Vitamin D3 Receptor-Interacting Protein Complex 80 KDa Component2 3
CRSP61 2 3 5     ARC772 3
DRIP801 2 3 5     CRSP Complex Subunit 62 3
TRAP801 2 3 5     Cofactor Required For Sp1 Transcriptional Activation, Subunit 6 (77kD)1
CRSP771 2 5     Mediator Of RNA Polymerase II Transcription Subunit 172
Cofactor Required For Sp1 Transcriptional Activation, Subunit 6, 77kDa1 2     DRIP773
Activator-Recruited Cofactor 77 KDa Component2 3     Trap803
Thyroid Hormone Receptor-Associated Protein Complex 80 KDa Component2 3     Cofactor Required For Sp1 Transcriptional Activation Subunit 63
Transcriptional Coactivator CRSP772 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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for MED17:
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)

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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.1  NT_167190.1  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for MED17

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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
Subcellular location: Nucleus (Probable)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9NVC6

  • MED17 Protein expression data from MOPED and PaxDb:    About this image 
    MED17 Protein Expression
    REFSEQ proteins: NP_004259.3  
    ENSEMBL proteins: 
     ENSP00000251871   ENSP00000434459   ENSP00000431524   ENSP00000433090   ENSP00000433626  
    Reactome Protein details: Q9NVC6
    Human Recombinant Protein Products for MED17: 
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    Novus Biologicals MED17 Proteins
    Novus Biologicals MED17 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for MED17

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA10235267
    GO:0005654nucleoplasm TAS--
    GO:0005667transcription factor complex IDA9989412
    GO:0016592mediator complex IDA14638676

    MED17 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for MED17


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    MED17 for domains           About GeneDecksing

    1 InterPro domain/family:
     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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    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): 5/7 molecular function terms (GO ID links to tree view) (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 - Customizable classic, inducible, and humanized mouse model solutions for MED17 

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    8/23 QIAGEN miScript miRNA 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
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MED17


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Generic Transcription Pathway
    Generic Transcription Pathway1.00
    Gene Expression0.46
    2HIV Infection
    Transcription Ligand-Dependent Transcription of Retinoid-Target genes0.28
    Transcription_Ligand-Dependent Transcription of Retinoid-Target genes0.28
    3Transcriptional Regulation of White Adipocyte Differentiation
    Transcriptional Regulation of White Adipocyte Differentiation1.00
    4Axon guidance
    Developmental Biology0.69

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for MED17
        Transcription Ligand-Dependent Transcription of Retinoid-Target genes


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

    4        Reactome Pathways for MED17
        Developmental Biology
    Transcriptional Regulation of White Adipocyte Differentiation
    Generic Transcription Pathway
    Gene Expression



    MED17 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MED17

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

    5/123 Interacting proteins for MED17 (Q9NVC62, 3 ENSP000002518714) via UniProtKB, MINT, STRING, and/or I2D (see all 123)
    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): 5/8 biological process terms (GO ID links to tree view) (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 HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for MED17
    Search CenterWatch for drugs/clinical trials and news about MED17 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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

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    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
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    Additional cDNA 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 

    24/197 AceView cDNA sequences (see all 197):

    BX115998 AA135940 NM_004268 BX099106 AI439124 BU621496 AA832410 AW473841 
    AI733527 AU126099 CR604067 AI095773 BM719539 AW242072 AA903578 BP375633 
    AI911664 AW135298 AI921279 CB054273 CA868018 AA565681 AW080471 BC021101 

    GeneLoc Exon Structure

    5/10 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MED17 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --
    MED17 Expression
    About this image
    See MED17 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MED17

    SOURCE GeneReport for Unigene cluster: Hs.444931

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

        SABiosciences Expression via Pathway-Focused PCR Array including MED17: 
              Nuclear Receptors & Coregulators in human mouse rat

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for MED17 gene from 7/21 species (see all 21)    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 79.99(n)
    90.82(a)
      419000  NM_001006280.1  NP_001006280.1 
    lizard
    (Anolis carolinensis)
    Reptilia MED176
    --
    89(a)
    1 ↔ 1
    3(196080759-196094400)
    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 49.89(n)
    45.15(a)
      42175  NM_142429.2  NP_650686.1 
    worm
    (Caenorhabditis elegans)
    Secernentea mdt-176
    --
    20(a)
    1 ↔ 1
    V(20250784-20267209)


    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)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/577 NCBI SNPs in MED17 are shown (see all 577    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1410443431,2
    --93515409(+) GTTGGC/GAACAA 1 -- us2k10--------
    rs1923944251,2
    --93515598(+) TACTTC/TCAGGA 1 -- us2k10--------
    rs1849850101,2
    --93515629(+) AGGTTA/GTGCTT 1 -- us2k10--------
    rs1889629011,2
    --93515673(+) AACCTA/GCAAAT 1 -- us2k10--------
    rs6642571,2
    C,F,A,H--93515709(-) CACAGA/GATGAA 1 -- us2k123Minor allele frequency- G:0.23NS EA NA WA CSA 2337
    rs1154873591,2
    F--93515771(+) GAAGAT/CGTTAT 1 -- us2k11Minor allele frequency- C:0.03WA 118
    rs1498170481,2
    --93515894(+) TTTTGA/GCATAC 1 -- us2k10--------
    rs14289191,2
    C,F,O,A,H--93516016(+) CAACTT/AACCTT 1 -- us2k1 tfbs316Minor allele frequency- A:0.46NS EA NA WA 928
    rs6391001,2
    C--93516096(+) GCTTTA/GCTTAT 1 -- us2k112Minor allele frequency- G:0.01NA WA CSA EA 374
    rs6620701,2
    C--93516204(-) AAAAAA/TTTTTT 1 -- us2k16Minor allele frequency- T:0.49NA WA EA 364

    HapMap Linkage Disequilibrium report for MED17 (93517393 - 93547861 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for MED17: --
    Human Gene Mutation Database (HGMD): MED17

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    MED17 for disorders           About GeneDecksing

    OMIM gene information: 603810   
    OMIM disorders: 613668  
    UniProtKB/Swiss-Prot: MED17_HUMAN, Q9NVC6
  • Defects in MED17 are the cause of microcephaly postnatal progressive with seizures and brain atrophy (MCPHSBA)
  • [MIM:613668]. It is 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

    8 diseases for MED17:    About MalaCards
    microcephaly, postnatal progressive, with seizures and brain atrophy    thyroiditis    microcephaly    conjunctivitis
    seizures    spasticity    cerebritis    cholesterol


    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)
    About This Section

    PubMed articles for MED17 gene, integrated from 9 sources (see all 54):
    (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. (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. (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. (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. (2005)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (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. (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. (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. (2003)
    9. Role of metazoan mediator proteins in interferon-responsive transcription. (PubMed id 12509459)1, 2 Lau J.F.... Horvath C.M. (2003)
    10. Ligand-dependent transcription activation by nuclear receptors requires the DRIP complex. (PubMed id 10235266)1, 2 Rachez C.... Freedman L.P. (1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
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      (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)
    About This Section
    Entrez Gene: 9440 HGNC: 2375 AceView: CRSP6 Ensembl:ENSG00000042429 euGenes: HUgn9440
    ECgene: MED17 H-InvDB: MED17

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for MED17 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for 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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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