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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...)
  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)
About This Section

Aliases
Mediator Complex Subunit 12-Like1 2     KIAA16353 5
Thyroid Hormone Receptor-Associated-Like Protein2 3     Mediator Of RNA Polymerase II Transcription, Subunit 12 Homolog (S.
Cerevisiae)-Like1
Trinucleotide Repeat-Containing Gene 11 Protein-Like2 3     Mediator Of RNA Polymerase II Transcription Subunit 12-Like Protein2
TNRC11L2 3     Mediator Of RNA Polymerase II Transcription, Subunit 12 Homolog-Like2
TRALP2 3     No Opposite Paired Repeat Protein2
TRALPUSH2 3     Mediator Complex Subunit 12-Like Protein3
NOPAR2 5     

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 Gene:
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)

GeneCards Summary for MED12L Gene: 
MED12L (mediator complex subunit 12-like) is a protein-coding gene. Diseases associated with MED12L include usher syndrome type 3, and usher syndrome. GO annotations related to this gene include RNA polymerase II transcription cofactor activity and beta-catenin binding. An important paralog of this gene is MED12.

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NT_005612.16  NC_018914.2  
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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for MED12L at MOPED 

Post-translational modifications:

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

  • MED12L Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    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 MassSpec 
    OriGene Custom Protein Services for MED12L
    GenScript Custom Purified and Recombinant Proteins Services for MED12L
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. 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
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    Novus Biologicals MED12L Antibody
    Search for Antibodies for MED12L at Abcam
    Cloud-Clone Corp. Antibodies for MED12L 
    Search ThermoFisher Antibodies for MED12L
    Search LSBio for Antibodies for MED12L 

    Assay Products for MED12L: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for MED12L
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for MED12L
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for MED12L 
    Cloud-Clone Corp. CLIAs for MED12L


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     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


    MED12L 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, 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, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 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 - Custom generated mouse model solutions for MED12L 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for MED12L

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MED12L 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MED12L 

    miRNA
    Products:
        
    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 RNAi products in human, mouse, rat for MED12L
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MED12L

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

    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for MED12L (see all 5)
    OriGene ORF clones in 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
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    GenScript Custom overexpressing Cell Line Services for MED12L
    Search LifeMap BioReagents cell lines 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, Sino Biological, 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 Oct 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)

    5/589 Interacting proteins for MED12L (Q86YW92, 3 ENSP000004172354) via UniProtKB, MINT, STRING, and/or I2D (see all 589)
    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

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006357regulation of transcription from RNA polymerase II promoter ----

    MED12L for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MED12L (MD12L)

    Search CenterWatch for drugs/clinical trials and news about MED12L / MD12L

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, 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:
         
    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 RNAi products in human, mouse, rat for MED12L
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MED12L
    Clone
    Products:
         
    OriGene clones in human, mouse for MED12L (see all 5)
    OriGene ORF clones in 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 qSTAR qPCR primer pairs in human, mouse for MED12L
    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 mRNA 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):

    AK128165 AK022714 AA292658 AU132578 BX484379 AI018271 AF388365 NM_053002 
    BX956402 AF399708 AU125717 AF388364 H97302 BF970855 AA827655 AK124913 
    AA648291 BG620396 AU154084 BQ429110 AA428945 AF090917 AA284420 AA931311 

    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)      MED12L embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCTATGGCTG
    MED12L Expression
    About this image


    MED12L expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 3 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
     
     Liver (Hepatobiliary System)
             Hematopoietic Stem Cells Liver Bud
     
     Yolk Sac (Extraembryonic Tissues)
             Definitive Hematopoietic Stem Cells Definitive Yolk Sac

    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 qSTAR qPCR primer pairs in human, mouse for MED12L
    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 4/12 species (see all 12)    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
    Uncharacterized protein
    79(a)
    1 ↔ 1
    3(17993620-18157698)
    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, 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) 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

    10/7377 SNPs in MED12L are shown (see all 7377)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1502967781,2
    Cuntested1150897849(+) AAATCG/AGCTGT 1 -- int11Minor allele frequency- A:0.00NA 4542
    rs1438295051,2
    Cuntested1151037383(+) AAAAAA/C/TAATAA 1 -- int10--------
    rs105779081,2
    C--148229044(+) TAGTC-/CTTCATTG 1 -- int10--------
    rs355768281,2
    C--148229045(+) AGTCCTTC/-ATTGT 1 -- int11Minor allele frequency- -:0.50NA 2
    rs1413538891,2
    C--148242897(+) TTTTT-/TTTTT 
            
    GGAGA
    1 -- int10--------
    rs58535081,2
    C--148293806(+) GATGC-/TTTTTTTT 1 -- cds1 trp30--------
    rs789157071,2
    C--148314959(+) TATCT-/TTGGAG 1 -- int10--------
    rs667005421,2
    C--148326547(+) AATAAATAA/-  
            
    GTAAA
    1 -- int11Minor allele frequency- -:0.50NA 2
    rs114532941,2
    C--148344762(+) TTTTT-/TGTTAA 1 -- int1 trp30--------
    rs1462509921,2
    C--148373051(+) TTTTT-/TGTTTG 1 -- int10--------

    HapMap Linkage Disequilibrium report for MED12L (150803484 - 151053484 bp, first 250kb of MED12L)

    Structural Variations
         Database of Genomic Variants (DGV) 10/23 variations for MED12L (see all 23):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2726057CNV Deletion23290073
    esv2400186CNV Deletion18987734
    esv2726058CNV Deletion23290073
    esv2726056CNV Deletion23290073
    esv1169457CNV Deletion17803354
    esv2673993CNV Deletion23128226
    esv2726054CNV Deletion23290073
    esv2726053CNV Deletion23290073
    esv2726055CNV Deletion23290073
    esv2726052CNV Deletion23290073

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    (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.)
    About This Section
    OMIM gene information: 611318    OMIM disorders: --

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


    MED12L for disorders           About GeneDecksing

    Genetic Association Database (GAD): MED12L
    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 (see all 15):
    (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. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    3. 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, 4 Bailey S.D....Anand S. (2010)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. 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)
    6. The SH3 domain of postsynaptic density 95 mediates inf lammatory pain through phosphatidylinositol-3-kinase recruitment. (PubMed id 20467438)1 Arbuckle M.I....Grant S.G. (2010)
    7. Gene-centric association signals for lipids and apoli poproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (2009)
    8. 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)
    9. Chromosome 6p22 locus associated with clinically aggressive neuroblastoma. (PubMed id 18463370)4 Maris J.M....Hakonarson H. (2008)
    10. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)

    (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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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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