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

MED12L Gene

protein-coding   GIFtS: 49
GCID: GC03P150803

mediator complex subunit 12-like

(Previous names: mediator of RNA polymerase II transcription, subunit 12...)
 Explore 3 diseases affiliated with
MED12L via our new
 Human Malady Compendium 
Biological research products
for MED12L
    

(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 12-Like1 2     NOPAR2 5
TNRC11L1 2 3     Mediator Of RNA Polymerase II Transcription, Subunit 12 Homolog (S.
Cerevisiae)-Like1
TRALP1 2 3     Mediator Of RNA Polymerase II Transcription Subunit 12-Like Protein2
TRALPUSH1 2 3     Mediator Of RNA Polymerase II Transcription, Subunit 12 Homolog-Like2
KIAA16351 3 5     No Opposite Paired Repeat Protein2
Thyroid Hormone Receptor-Associated-Like Protein2 3     Mediator Complex Subunit 12-Like Protein3
Trinucleotide Repeat-Containing Gene 11 Protein-Like2 3     

External Ids:    HGNC: 160501   Entrez Gene: 1169312   Ensembl: ENSG000001448937   OMIM: 6113185   UniProtKB: Q86YW93   

Export aliases for MED12L gene to outside databases

Previous GC identifers: GC03P152287 GC03P148177


(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 MED12L:
The protein encoded by this gene is part of the Mediator complex, which is involved in transcriptional coactivation of
nearly all RNA polymerase II-dependent genes. The Mediator complex links gene-specific transcriptional activators with
the basal transcription machinery. (provided by RefSeq, May 2010)

UniProtKB/Swiss-Prot: MD12L_HUMAN, Q86YW9
Function: May be a 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 (By similarity)




(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_000003.11  NC_018914.1  NT_005612.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MED12L gene promoter:
         USF1   Elk-1   Pax-5   USF2   USF-1:USF-2   LCR-F1   Evi-1   CP2   Zic1   USF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMED12L promoter sequence
   Search SABiosciences Chromatin IP Primers for MED12L

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MED12L


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

Entrez Gene cytogenetic band: 3q25.1   Ensembl cytogenetic band:  3q25.1   HGNC cytogenetic band: 3q25.1

MED12L Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MED12L gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P150803:  view genomic region     (about GC identifiers)

Start:
150,803,484 bp from pter      End:
151,154,860 bp from pter
Size:
351,377 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: MD12L_HUMAN, Q86YW9 (See protein sequence)
Recommended Name: Mediator of RNA polymerase II transcription subunit 12-like protein  
Size: 2145 amino acids; 240120 Da
Subunit: May be a component of the Mediator complex, which is known to be 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 (By similarity)
Subcellular location: Nucleus (Probable)
Sequence caution: Sequence=AAF24035.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown
origin in the N-terminal part and potential poly-A sequence; Sequence=BAB14198.1; Type=Erroneous initiation;
Secondary accessions: Q96PC7 Q96PC8 Q9H9M5 Q9HCD7 Q9UI69
Alternative splicing: 4 isoforms:  Q86YW9-1   Q86YW9-2   Q86YW9-3   Q86YW9-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MED12L: NX_Q86YW9

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q86YW9

  • MED12L Protein expression data from MOPED and PaxDb:    About this image 
    MED12L Protein Expression
    REFSEQ proteins: NP_443728.3  
    ENSEMBL proteins: 
     ENSP00000403308   ENSP00000310760   ENSP00000417235   ENSP00000273432   ENSP00000417420  

    Human Recombinant Protein Products for MED12L: 
    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
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom Protein Services for MED12L 
    GenScript Custom Purified and Recombinant Proteins Services for MED12L
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for MED12L

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016592mediator complex IEA--

    MED12L for ontologies           About GeneDecksing



    MED12L Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for MED12L 
    GenScript Custom Superior Antibodies Services for MED12L
    Novus Biologicals MED12L Antibody
    Search for Antibodies for MED12L at Abcam  
    Uscn Antibodies for MED12L
    Search ThermoFisher Antibodies for MED12L

    Assay Products for MED12L: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for MED12L
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for MED12L


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

    MED12L for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR021989 Mediator_Med12_catenin-bd
     IPR019035 Mediator_Med12
     IPR021990 Mediator_Med12_LCEWAV

    Graphical View of Domain Structure for InterPro Entry Q86YW9

    ProtoNet protein and cluster: Q86YW9

    UniProtKB/Swiss-Prot: MD12L_HUMAN, Q86YW9
    Similarity: Belongs to the Mediator complex subunit 12 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: MD12L_HUMAN, Q86YW9
    Function: May be a 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 (By similarity)

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001104RNA polymerase II transcription cofactor activity IEA--
    GO:0008013beta-catenin binding IEA--
         
    MED12L for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for MED12L:
     Decreased number of cells in m  Increased S DNA content  S arrest 

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for MED12L 

    miRNA
    Products:
        
    OriGene 3'-UTR Clone: MED12L
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MED12L
    8/134 QIAGEN miScript miRNA Assays for microRNAs that regulate MED12L (see all 134):
    hsa-miR-26a-2* hsa-miR-520f hsa-miR-106a hsa-miR-199a-3p hsa-miR-128 hsa-miR-3653 hsa-miR-138-2* hsa-miR-130b
    SwitchGear 3'UTR luciferase reporter plasmidMED12L 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MED12L
    OriGene shRNA RFP: MED12L
    OriGene siRNA: MED12L
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MED12L
    Sirion Biotech Custom design and validation of potent shRNA sequences against MED12L 

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for MED12L
    Sirion Biotech Customized adenovirus for overexpression of MED12L 
    Sirion Biotech Customized adenovirus for potent knockdown of MED12L

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MED12L (see all 2)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MED12L
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: MED12L (NM_053002)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MED12L
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MED12L 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for MED12L
    Search LifeMap BioReagents cell lines for MED12L
    Sirion Biotech Customized stable knockdown cell line services for MED12L 
    Sirion Biotech Customized inducible knockdown cell line services for MED12L

    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MED12L


    (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



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MED12L

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

    5/562 Interacting proteins for MED12L (Q86YW92, 3 ENSP000004172354) via UniProtKB, MINT, STRING, and/or I2D (see all 562)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CCNCP248633, ENSP000003582224I2D: score=2 STRING: ENSP00000358222
    ARP102753, ENSP000003638224I2D: score=1 STRING: ENSP00000363822
    MED13LQ71F563, ENSP000002819284I2D: score=1 STRING: ENSP00000281928
    MED31Q9Y3C73, ENSP000002257284I2D: score=1 STRING: ENSP00000225728
    MYCP011063, ENSP000003672074I2D: score=1 STRING: ENSP00000367207
    About this table

    (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

    MED12L for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MED12L
    1 PharmGKB related drug/compound annotation for MED12L gene    About this table
    Drug/compound PharmGKB Annotation
    clopidogrelCA  
    Search CenterWatch for drugs/clinical trials and news about MED12L / MD12L 

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    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 MED12L gene: 
    NM_053002.4  

    Unigene Cluster for MED12L:

    Mediator complex subunit 12-like
    Hs.744234  [show with all ESTs]
    Unigene Representative Sequence: NM_053002
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000469768 ENST00000422248(uc003eym.1 uc003eyo.3) ENST00000309237(uc003eyn.3)
    ENST00000474524(uc003eyp.3 uc011bnz.2) ENST00000273432(uc003eyy.1)
    ENST00000480026 ENST00000491549 ENST00000468305 ENST00000488092

    miRNA
    Products:
         
    OriGene 3'-UTR Clone: MED12L
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MED12L
    8/134 QIAGEN miScript miRNA Assays for microRNAs that regulate MED12L (see all 134):
    hsa-miR-26a-2* hsa-miR-520f hsa-miR-106a hsa-miR-199a-3p hsa-miR-128 hsa-miR-3653 hsa-miR-138-2* hsa-miR-130b
    SwitchGear 3'UTR luciferase reporter plasmidMED12L 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MED12L
    OriGene shRNA RFP: MED12L
    OriGene siRNA: MED12L
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MED12L
    Sirion Biotech Custom design and validation of potent shRNA sequences against MED12L 
    Clone
    Products:
         
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MED12L (see all 2)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MED12L
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: MED12L (NM_053002)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MED12L
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MED12L 
    Primer
    Products:
        
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MED12L
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse / rat MED12L
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MED12L
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MED12L

    Additional cDNA sequence: 

    AB046855.1 AF087980.1 AF090917.1 AF388364.1 AF388365.1 AF399708.1 AK022714.1 AK124913.1 
    AK128165.1 

    7 DOTS entries:

    DT.40128724  DT.101978528  DT.97821934  DT.95083041  DT.120862017  DT.404239  DT.97811078 

    24/35 AceView cDNA sequences (see all 35):

    AK022714 AU125717 AF399708 BX484379 AF388365 AA292658 AF388364 BX956402 
    AK128165 AI018271 NM_053002 AU132578 BF970855 AU154084 AK124913 AA931311 
    AF090917 AB046855 BG620396 AA428945 BX108326 AA648291 H97302 AF087980 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for MED12L    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19 ^ 20
    SP1:                                                                                                                              
    SP2:                                                                                -                                             
    SP3:                                                                                                                              
    SP4:                                                                                            -                                 


    ECgene alternative splicing isoforms for MED12L

    (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

    MED12L expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CCTATGGCTG
    MED12L Expression
    About this image
    See MED12L Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MED12L

    SOURCE GeneReport for Unigene cluster: Hs.744234
        SABiosciences Custom PCR Arrays for MED12L

    Primer
    Products:
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MED12L
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse / rat MED12L
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MED12L
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MED12L
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MED12L

    (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 MED12L gene from 4/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Med12l1 , 5 mediator of RNA polymerase II transcription, subunit more1, 5 89.25(n)1
    95.51(a)1
      3 (28.89 cM)5
    3296501  NM_177855.31  NP_808523.21 
     590069785 
    chicken
    (Gallus gallus)
    Aves MED12L1 mediator complex subunit 12-like 79.13(n)
    85.95(a)
      425036  XM_422838.3  XP_422838.3 
    lizard
    (Anolis carolinensis)
    Reptilia MED12L6
    --
    80(a)
    1 ↔ 1
    3(17993620-18157346)
    fruit fly
    (Drosophila melanogaster)
    Insecta kto1 kohtalo 49.9(n)
    44.67(a)
      44830  NM_080047.2  NP_524786.1 


    ENSEMBL Gene Tree for MED12L (if available)
    TreeFam Gene Tree for MED12L (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MED12L gene
    MED122  
    2 SIMAP similar genes for MED12L using alignment to 4 protein entries:     MD12L_HUMAN (see all proteins):
    TNRC11    MED12

    MED12L for paralogs           About GeneDecksing



    (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

    10/3313 NCBI SNPs in MED12L are shown (see all 3313    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs774163571,2
    --148175743(+) GAGAAC/TGTGAG 1 -- us2k11Minor allele frequency- T:0.01EA 120
    rs98460661,2
    C--148176797(+) GGCCGT/GGGGGA 1 -- us2k13Minor allele frequency- G:0.40NA CSA 123
    rs759651871,2
    --148177411(+) CCCTGG/CAGACA 1 -- us2k11Minor allele frequency- C:0.01WA 118
    rs746131051,2
    --148178147(+) TCACCC/GGTTTC 1 -- int10--------
    rs126357731,2
    C,H--148178199(+) GTAAAC/GTTTTT 1 -- int12Minor allele frequency- G:0.06NA WA 120
    rs730129771,2
    C--148179463(+) TCTGGA/CAAGAG 1 -- int12Minor allele frequency- C:0.25WA 120
    rs761964001,2
    F--148180185(+) GCTGAT/GTTAAT 1 -- int11Minor allele frequency- G:0.03NA 120
    rs558362681,2
    --148180343(+) GTGAGA/GAAAGC 1 -- int10--------
    rs1119496221,2
    --148181160(+) TTGCTG/CTCATG 1 -- int11Minor allele frequency- C:0.50CSA 2
    rs730129781,2
    C--148181256(+) GCCATC/TTCCCC 1 -- int12Minor allele frequency- T:0.25WA 120

    HapMap Linkage Disequilibrium report for MED12L (150803484 - 151053484 bp, first 250kb of MED12L)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 5 variations for MED12L
         4 CNVs: 4356 36082 32525 3456
         1 Indel: 46308

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MED12L
    DNA2.0 Custom Variant and Variant Library Synthesis for MED12L

    (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

    MED12L for disorders           About GeneDecksing

    OMIM gene information: 611318    OMIM disorders: --

    3 diseases for MED12L:    About MalaCards
    usher syndrome type 3    thyroiditis    usher syndrome

    Human Genome Epidemiology (HuGE) Navigator: MED12L (4 documents)

    Export disorders for MED12L 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 MED12L gene integrated from 9 sources:
    (articles sorted by number of sources associating them with MED12L)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3. (PubMed id 11524702)1, 2, 3 Joensuu T.... Sankila E.-M. (2001)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10997877)1, 2 Nagase T.... Ohara O. (2000)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    5. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1 Bailey S.D....Anand S. (2010)
    6. Gene-centric association signals for lipids and apoli poproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (2009)
    7. Functional screening of FxxLF-like peptide motifs ide ntifies SMARCD1/BAF60a as an androgen receptor cofactor that modulates TMPRSS2 expression. (PubMed id 19762545)1 van de Wijngaart D.J....Jenster G. (2009)
    8. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)
    9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    10. Gene expression profiling in human fetal liver and identification of tissue- and developmental-stage-specific genes through compiled expression profiles and efficient cloning of full-length cDNAs. (PubMed id 11483580)2 Yu Y....He F. (2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 116931 HGNC: 16050 AceView: TRALPUSH Ensembl:ENSG00000144893 euGenes: HUgn116931
    ECgene: MED12L H-InvDB: MED12L

    (According to HUGE)
    About This Section
    HUGE: KIAA1635

    (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 MED12L 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 MED12L gene:
    Search GeneIP for patents involving MED12L

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



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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 14 May 2013

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