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

MED13L Gene

protein-coding   GIFtS: 55
GCID: GC12M116396

Mediator Complex Subunit 13-Like

(Previous name: thyroid hormone receptor associated protein 2)
(Previous symbol: THRAP2)
  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 13-Like1 2 3     Thyroid Hormone Receptor-Associated Protein Complex 240 KDa Component-Like2 3
THRAP21 2 3 5     KIAA10253 5
PROSIT2402 3 5     Thyroid Hormone Receptor Associated Protein 21
TRAP240L2 3 5     Mediator Of RNA Polymerase II Transcription Subunit 13-Like2
Thyroid Hormone Receptor-Associated Protein 22 3     

External Ids:    HGNC: 229621   Entrez Gene: 233892   Ensembl: ENSG000001230667   OMIM: 6087715   UniProtKB: Q71F563   

Export aliases for MED13L gene to outside databases

Previous GC identifers: GC12M114880 GC12M113408


(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 MED13L Gene:
The protein encoded by this gene is a subunit of the Mediator complex, a large complex of proteins that functions
as a transcriptional coactivator for most RNA polymerase II-transcribed genes. The encoded protein is involved in
early development of the heart and brain. Defects in this gene are a cause of transposition of the great
arteries, dextro-looped (DTGA).(provided by RefSeq, Jul 2010)

GeneCards Summary for MED13L Gene: 
MED13L (mediator complex subunit 13-like) is a protein-coding gene. Diseases associated with MED13L include transposition of the great arteries, and transposition of the great arteries, dextro-looped 1, and among its related super-pathways are Axon guidance. GO annotations related to this gene include RNA polymerase II transcription cofactor activity. An important paralog of this gene is MED13.

UniProtKB/Swiss-Prot: MD13L_HUMAN, Q71F56
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. This subunit may specifically
regulate transcription of targets of the Wnt signaling pathway and SHH signaling pathway




(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_000012.11  NT_009775.17  NC_018923.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for MED13L
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMED13L promoter sequence
   Search SABiosciences Chromatin IP Primers for MED13L

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MED13L


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

Entrez Gene cytogenetic band: 12q24.21   Ensembl cytogenetic band:  12q24.21   HGNC cytogenetic band: 12q24.22

MED13L Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MED13L gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M116396:  view genomic region     (about GC identifiers)

Start:
116,395,711 bp from pter      End:
116,715,143 bp from pter
Size:
319,433 bases      Orientation:
minus 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: MD13L_HUMAN, Q71F56 (See protein sequence)
Recommended Name: Mediator of RNA polymerase II transcription subunit 13-like  
Size: 2210 amino acids; 242602 Da
Subunit: 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
Subcellular location: Nucleus (Probable)
Sequence caution: Sequence=BAB14697.1; Type=Erroneous initiation;
Secondary accessions: A1L469 Q68DN4 Q9H8C0 Q9NSY9 Q9UFD8 Q9UPX5

Explore the universe of human proteins at neXtProt for MED13L: NX_Q71F56

Explore proteomics data for MED13L at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q71F56

  • MED13L Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MED13L Protein Expression
    REFSEQ proteins: NP_056150.1  
    ENSEMBL proteins: 
     ENSP00000281928   ENSP00000449895   ENSP00000449876   ENSP00000446782   ENSP00000448553  
    Reactome Protein details: Q71F56
    Human Recombinant Protein Products for MED13L: 
    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 MED13L
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for MED13L
    GenScript Custom Purified and Recombinant Proteins Services for MED13L
    Novus Biologicals MED13L Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    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--

    MED13L for ontologies           About GeneDecksing



    MED13L Antibody Products: 
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    Novus Biologicals MED13L Antibodies
    Abcam antibodies for MED13L
    Browse Antibodies at Cloud-Clone Corp. 
    Search ThermoFisher Antibodies for MED13L
    LSBio Antibodies in human, mouse, rat for MED13L 

    Assay Products for MED13L: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for MED13L
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    GenScript Custom Assay Services for MED13L
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    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR021643 Mediator_Med13_N_met/fun
     IPR009401 Mediator_Med13

    Graphical View of Domain Structure for InterPro Entry Q71F56

    ProtoNet protein and cluster: Q71F56

    UniProtKB/Swiss-Prot: MD13L_HUMAN, Q71F56
    Similarity: Belongs to the Mediator complex subunit 13 family


    MED13L 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: MD13L_HUMAN, Q71F56
    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. This subunit may specifically
    regulate transcription of targets of the Wnt signaling pathway and SHH signaling pathway

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001104RNA polymerase II transcription cofactor activity IEA--
         
    MED13L for ontologies           About GeneDecksing


    Phenotypes:
         5 GenomeRNAi human phenotypes for MED13L:
     Decreased NANOG protein expres  Decreased OCT4 protein express  Decreased POU5F1-GFP protein e  Increased G1 DNA content 
     Synthetic lethal with Ras 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for MED13L 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for MED13L

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MED13L 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MED13L 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MED13L
    8/80 QIAGEN miScript miRNA Assays for microRNAs that regulate MED13L (see all 80):
    hsa-miR-607 hsa-miR-361-5p hsa-miR-520e hsa-miR-520f hsa-miR-300 hsa-miR-1260b hsa-miR-3653 hsa-miR-3074-3p
    SwitchGear 3'UTR luciferase reporter plasmidMED13L 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for MED13L
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MED13L

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for MED13L
    Sirion Biotech Customized adenovirus for overexpression of MED13L

    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for MED13L (see all 5)
    OriGene ORF clones in mouse, rat for MED13L
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MED13L (NM_015335)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MED13L
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MED13L

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for MED13L
    Search LifeMap BioReagents cell lines for MED13L
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MED13L


    (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

    SuperPaths for MED13L About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Axon guidance
    Developmental Biology0.69
    2Transcriptional Regulation of White Adipocyte Differentiation
    Transcriptional Regulation of White Adipocyte Differentiation

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2        Reactome Pathways for MED13L
        Developmental Biology
    Transcriptional Regulation of White Adipocyte Differentiation



    MED13L for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MED13L

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

    5/80 Interacting proteins for MED13L (Q71F563 ENSP000002819284) via UniProtKB, MINT, STRING, and/or I2D (see all 80)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CCNCP248633, ENSP000003582224I2D: score=2 STRING: ENSP00000358222
    CDK8P493363, ENSP000003709384I2D: score=2 STRING: ENSP00000370938
    MED10Q9BTT43, ENSP000002557644I2D: score=2 STRING: ENSP00000255764
    MED19A0JLT23, ENSP000003373404STRING: ENSP00000337340 I2D: score=2 
    MED12LQ86YW93, ENSP000004172354I2D: score=1 STRING: ENSP00000417235
    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 ----

    MED13L 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 MED13L (MD13L)

    Search CenterWatch for drugs/clinical trials and news about MED13L / MD13L

    (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 MED13L gene: 
    NM_015335.4  

    Unigene Clusters for MED13L:

    Mediator complex subunit 13-like
    Hs.603766  [show with all ESTs], Hs.715095  [show with all ESTs]
    Unigene Representative Sequences: AY338463, AV733758
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000552023 ENST00000281928(uc001tvw.3) ENST00000548784 ENST00000552447
    ENST00000548694 ENST00000552340 ENST00000549786 ENST00000549755 ENST00000551197
    ENST00000548743
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MED13L
    8/80 QIAGEN miScript miRNA Assays for microRNAs that regulate MED13L (see all 80):
    hsa-miR-607 hsa-miR-361-5p hsa-miR-520e hsa-miR-520f hsa-miR-300 hsa-miR-1260b hsa-miR-3653 hsa-miR-3074-3p
    SwitchGear 3'UTR luciferase reporter plasmidMED13L 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for MED13L
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MED13L
    Clone
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    OriGene clones in human, mouse for MED13L (see all 5)
    OriGene ORF clones in mouse, rat for MED13L
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MED13L (NM_015335)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MED13L
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MED13L
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for MED13L
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat MED13L
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MED13L
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MED13L

    Additional mRNA sequence: BC038768.1 

    13 DOTS entries:

    DT.442989  DT.100792447  DT.95105809  DT.97814523  DT.40124732  DT.92440054  DT.99977854  DT.100792448 
    DT.121125967  DT.40191682  DT.95083227  DT.95108096  DT.95177733 

    24/309 AceView cDNA sequences (see all 309):

    BU622270 AV704416 BX103984 BX482668 BF224108 AA007546 AK127706 BU657836 
    BX112603 AI468815 BQ580385 BM699496 BX498028 AA668778 AW849228 BC038768 
    BX113541 BU737344 BM667028 AW849545 AI702078 AI636492 BX644969 AA551771 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for MED13L (see all 8)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22a · 22b ^ 23a · 23b · 23c ·
    SP1:                    -                                                                                                                                       
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 23d ^ 24a · 24b · 24c ^ 25a · 25b · 25c ^ 26a · 26b · 26c ^ 27a · 27b ^ 28a · 28b ^ 29 ^ 30 ^ 31 ^ 32
    SP1:  -                 -                 -     -                 -                                             
    SP2:  -                 -                 -                                                                     
    SP3:                                                                                                            
    SP4:                                                                                                            
    SP5:  -                                                                                                         


    ECgene alternative splicing isoforms for MED13L

    (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

    MED13L expression in normal human tissues (normalized intensities)      MED13L embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGGTGGAGGT
    MED13L Expression
    About this image


    MED13L expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/5 selected tissues (see all 5) fully expand
     
     Lung (Respiratory System)
             trachea   
     
     Testis (Reproductive System)
             Testis Somatic Cells Primitive Gonad
     
     Inner Cell Mass (Early Embryonic Tissues)
             Blimp1- mVenus and stella-ECFP genetically modified stem cells
     
     Gonad (Reproductive System)
             Testis Somatic Cells Primitive Gonad
     
     Blood (Hematopoietic System)
             neutrophils   

    See MED13L Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MED13L

    SOURCE GeneReport for Unigene clusters: Hs.603766 Hs.715095

    UniProtKB/Swiss-Prot: MD13L_HUMAN, Q71F56
    Tissue specificity: Highly expressed in brain (cerebellum), heart (aorta), skeletal muscle, kidney, placenta and
    peripheral blood leukocytes. Highly expressed in fetal brain

        SABiosciences Custom PCR Arrays for MED13L
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for MED13L
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat MED13L
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MED13L
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MED13L
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MED13L

    (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 MED13L gene from 5/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Med13l1 , 5 mediator complex subunit 13-like1, 5 88.01(n)1
    92.73(a)1
      5 (59.10 cM)5
    761991  NM_172424.41  NP_766012.31 
     1185607195 
    chicken
    (Gallus gallus)
    Aves MED13L1 mediator complex subunit 13-like 81.1(n)
    87.48(a)
      417027  XM_415317.2  XP_415317.2 
    lizard
    (Anolis carolinensis)
    Reptilia MED13L6
    Uncharacterized protein
    72(a)
    1 ↔ 1
    LGb(2832962-2920266)
    fruit fly
    (Drosophila melanogaster)
    Insecta skd1 skuld 46.92(n)
    37.92(a)
      43906  NM_168880.2  NP_730591.2 
    worm
    (Caenorhabditis elegans)
    Secernentea let-196
    Mediator of RNA polymerase II transcription subuni...
    15(a)
    1 → many
    II(8770975-8782021)


    ENSEMBL Gene Tree for MED13L (if available)
    TreeFam Gene Tree for MED13L (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MED13L gene
    MED132  
    1 SIMAP similar gene for MED13L using alignment to 5 protein entries:     MD13L_HUMAN (see all proteins):
    MED13

    MED13L 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

    10/5273 SNPs in MED13L are shown (see all 5273)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0240264
    Transposition of the great arteries dextro-looped 1 (DTGA1)4--see VAR_0240262 D G mis40--------
    rs289403101,2,4
    CTransposition of the great arteries dextro-looped 1 (DTGA1)4 pathogenic1113424064(-) TGCACA/GTAAAA 2 H R mis1 ese30--------
    rs1924572571,2
    --113406861(+) TGCAGC/GCAACA 1 -- ds50010--------
    rs1393603551,2
    C--113406984(+) GCTGAA/C/GACTGT 1 -- ds50010--------
    rs1837962651,2
    --113407050(+) CCACAA/GTCTTA 1 -- ds50010--------
    rs1455101461,2
    --113407100(+) GTTGAC/TTCGGT 1 -- ds50010--------
    rs1473317611,2
    --113407102(+) TGATTC/GGGTGT 1 -- ds50010--------
    rs1881734801,2
    --113407191(+) GTTAGC/GGGGGT 1 -- ds50010--------
    rs1410499731,2
    --113407240(+) GGAAGG/TTAGAG 1 -- ds50010--------
    rs1806984181,2
    --113407252(+) CCTGGA/CTACTA 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for MED13L (116395711 - 116645711 bp, first 250kb of MED13L)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for MED13L:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2677842CNV Deletion23128226
    nsv52565CNV Insertion16902084
    nsv832522CNV Loss17160897
    esv21461CNV Loss19812545
    esv29009CNV Loss19812545
    dgv1495n71CNV Gain21882294
    nsv826519CNV Gain20364138


    Human Gene Mutation Database (HGMD): MED13L
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing MED13L
    DNA2.0 Custom Variant and Variant Library Synthesis for MED13L

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 608771   
    OMIM disorders: 608808  
    UniProtKB/Swiss-Prot: MD13L_HUMAN, Q71F56
  • Transposition of the great arteries dextro-looped 1 (DTGA1) [MIM:608808]: A congenital heart defect
    consisting of complete inversion of the great vessels, so that the aorta incorrectly arises from the right
    ventricle and the pulmonary artery incorrectly arises from the left ventricle. This creates completely separate
    pulmonary and systemic circulatory systems, an arrangement that is incompatible with life. The presence or
    absence of associated cardiac anomalies defines the clinical presentation and surgical management of patients
    with transposition of the great arteries. Note=The disease is caused by mutations affecting the gene represented
    in this entry
  • Note=A chromosomal aberration involving MED13L is found in a patient with transposition of the great
    arteries, dextro-looped and mental retardation. Translocation t(12;17)(q24.1;q21)

  • 10 diseases for MED13L:    About MalaCards
    transposition of the great arteries    transposition of the great arteries, dextro-looped 1    thyroiditis    ventricular septal defect
    congenital heart defect    situs inversus    mental retardation    blindness
    obesity    colorectal cancer


    MED13L for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for MED13L gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    heart defects congenital 51 2 15175163 (1), 14638541 (1)
    mental retardation 45.3 1 14638541 (1)

    Genetic Association Database (GAD): MED13L
    Human Genome Epidemiology (HuGE) Navigator: MED13L (1 document)

    Export disorders for MED13L 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 MED13L gene, integrated from 9 sources (see all 23):
    (articles sorted by number of sources associating them with MED13L)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (transposition of the great arteries). (PubMed id 14638541)1, 2, 9 Muncke N.... Rappold G. (2003)
    2. cDNA cloning and characterization of the human THRAP2 gene which maps to chromosome 12q24, and its mouse ortholog Thrap2. (PubMed id 15145061)1, 2, 9 Musante L.... Kalscheuer V.M. (2004)
    3. A set of consensus mammalian mediator subunits identified by multidimensional protein identification technology. (PubMed id 15175163)1, 2, 9 Sato S....Conaway R.C. (2004)
    4. 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)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PubMed id 12168954)1, 2 Nakajima D.... Nagase T. (2002)
    7. Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10470851)1, 2 Kikuno R....Ohara O. (1999)
    8. The SCF-Fbw7 ubiquitin ligase degrades MED13 and MED13 L and regulates CDK8 module association with Mediator. (PubMed id 23322298)1 Davis M.A....Clurman B.E. (2013)
    9. A role for Mediator complex subunit MED13L in Rb/E2F-i nduced growth arrest. (PubMed id 22249253)1 Angus S.P. and Nevins J.R. (2012)
    10. Meta-analysis of new genome-wide association studies o f colorectal cancer risk. (PubMed id 21761138)1 Peters U....Casey G. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    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: 23389 HGNC: 22962 AceView: THRAP2 Ensembl:ENSG00000123066 euGenes: HUgn23389
    ECgene: MED13L H-InvDB: MED13L

    (According to HUGE)
    About This Section
    HUGE: KIAA1025

    (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 MED13L 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 MED13L gene:
    Search GeneIP for patents involving MED13L

    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: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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