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MED13L Gene

protein-coding   GIFtS: 56
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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000012.12  NT_029419.13  NC_018923.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for MED13L
         Other transcription factors

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

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: 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
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: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See MED13L Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_056150.1  
    ENSEMBL proteins: 
     ENSP00000281928   ENSP00000449895   ENSP00000449876   ENSP00000446782   ENSP00000448553  
    Reactome Protein details: Q71F56

    MED13L Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
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    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.

    MED13L Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    OriGene Antibodies for MED13L
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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

    MED13L Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for MED13L
    Browse Enzo Life Sciences for kits & assays
    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)
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    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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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:    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: Let us create your new Knockout/Knockin mouse model for MED13L
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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:
        
    miRTarBase miRNAs that target MED13L:
    hsa-mir-328-3p (MIRT043785), hsa-mir-98-5p (MIRT027821), hsa-mir-590-3p (MIRT016185), hsa-mir-18a-3p (MIRT040774), hsa-mir-615-3p (MIRT039767), hsa-mir-93-5p (MIRT028166), hsa-mir-23b-3p (MIRT046247), hsa-let-7e-5p (MIRT051444), hsa-let-7a-5p (MIRT052519)

    Block miRNA regulation of human, mouse, rat MED13L using miScript Target Protectors
    Selected qRT-PCR 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
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    OriGene RNAi products in human, mouse, rat for MED13L
    Predesigned siRNA for gene silencing in human, mouse, rat MED13L

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for 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)
    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
    Browse ESI BIO Cell Lines and PureStem Progenitors for MED13L 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MED13L


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MD13L_HUMAN, Q71F56: Nucleus (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus4
    cytosol2
    endoplasmic reticulum1
    golgi apparatus1
    peroxisome1

    Gene Ontology (GO): 1 cellular component term:    About this table

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

    MED13L for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for MED13L About    
    See pathways by source

    SuperPathContained pathways About
    1Fatty acid, triacylglycerol, and ketone body metabolism
    Fatty acid, triacylglycerol, and ketone body metabolism0.65
    PPARA Activates Gene Expression0.63
    Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)0.65
    Transcriptional Regulation of White Adipocyte Differentiation0.38
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    3L1CAM interactions
    Developmental Biology0.63
    4Thyroid hormone signaling pathway
    Thyroid hormone signaling pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Reactome Pathways for MED13L
        Transcriptional regulation of white adipocyte differentiation
    PPARA activates gene expression


    1 Kegg Pathway  (Kegg details for MED13L):
        Thyroid hormone signaling pathway


    MED13L for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MED13L
    Interactions:

        Search GeneGlobe Interaction Network for MED13L

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

    Selected Interacting proteins for MED13L (Q71F563 ENSP000002819284) via UniProtKB, MINT, STRING, and/or I2D (see all 107)
    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 
    HRASP011123, ENSP000003098454I2D: score=1 STRING: ENSP00000309845
    About this table

    Gene Ontology (GO): 1 biological process term:    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, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for MED13L gene: 
    NM_015335.4  

    Unigene Cluster for MED13L:

    Mediator complex subunit 13-like
    Hs.603766  [show with all ESTs]
    Unigene Representative Sequence: AY338463
    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:
         
    Block miRNA regulation of human, mouse, rat MED13L using miScript Target Protectors
    Selected qRT-PCR 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
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    OriGene RNAi products in human, mouse, rat for MED13L
    Predesigned 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
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MED13L
      QuantiTect SYBR Green Assays in human, mouse, rat MED13L
      QuantiFast Probe-based Assays in human, mouse, rat MED13L

    Additional mRNA sequence: 

    AB028948.2 AF515599.1 AK023837.1 AK025348.1 AK127706.1 AL133033.1 AL137644.1 AY338463.1 
    BC130422.1 CR749332.1 

    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 

    Selected AceView cDNA sequences (see all 309):

    BX281395 BQ007632 AI468815 AW290971 AW849228 BU169889 AA193218 BF224108 
    BC038768 AW849545 BU622270 AA418656 NM_015335 BM667028 BX103984 AU140855 
    AA668778 AA551771 BQ580385 BX644969 BU657836 BX112603 AA634363 BM989264 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MED13L expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 4) fully expand
     
     Testis (Reproductive System)
             Testis Somatic Cells Primitive Gonad
     
     Inner Cell Mass (Early Embryonic Tissues)
             Blimp1- mVenus and stella-ECFP genetically modified stem cells
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Gonad (Reproductive System)
             Testis Somatic Cells Primitive Gonad
    MED13L Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MED13L Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.603766

    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

        Custom PCR Arrays for MED13L
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    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)
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    This gene was present in the common ancestor of animals.

    Orthologs for MED13L gene from Selected species (see all 13)    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 87.81(n)1
    92.51(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 80.42(n)
    86.8(a)
      417027  XM_004934488.1  XP_004934545.1 
    lizard
    (Anolis carolinensis)
    Reptilia MED13L6
    mediator complex subunit 13-like
    76(a)
    1 ↔ 1
    LGb(2832962-2920266)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia med13l1 mediator complex subunit 13-like 66.84(n)
    69.81(a)
      100491622  XM_002939191.2  XP_002939237.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta skd6
    skuld
    23(a)
    1 → many
    3L(20985914-21020534)
    worm
    (Caenorhabditis elegans)
    Secernentea let-196
    Protein LET-19 (let-19) mRNA, complete cds
    15(a)
    1 → many
    II(8770975-8782021) WBGene00002295


    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)
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    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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MED13L (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
    ----------
    rs289403101,2,,4
    CTransposition of the great arteries dextro-looped 1 (DTGA1)4 pathogenic1113424064(-) TGCACA/GTAAAA 2 H R mis1 ese30--------
    VAR_0240264
    Transposition of the great arteries dextro-looped 1 (DTGA1)4--see VAR_0240262 D G mis40--------
    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
    Site Specific Mutation Identification with 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.)
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    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)

  • 14 diseases for MED13L:    
    About MalaCards
    transposition of the great arteries    transposition of the great arteries, dextro-looped 1    cardiac anomalies-developmental delay-facial dysmorphism syndrome    mental retardation, autosomal recessive 2
    thyroiditis    ventricular septal defect    situs inversus    congenital heart defect
    mental retardation    blindness    obesity    colorectal cancer
    multiple myeloma    myeloma


    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)
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    PubMed articles for MED13L gene, integrated from 10 sources (see all 24):
    (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. (Circulation 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. (Gene 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. (Mol. Cell 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. (Mol. Med. 2010)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. 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. (DNA Res. 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. (DNA Res. 1999)
    8. The protein interaction landscape of the human CMGC kinase group. (PubMed id 23602568)1 Varjosalo M....Gstaiger M. (Cell Rep 2013)
    9. The SCF-Fbw7 ubiquitin ligase degrades MED13 and MED13L and regulates CDK8 module association with Mediator. (PubMed id 23322298)1 Davis M.A....Clurman B.E. (amp 2013)
    10. A role for Mediator complex subunit MED13L in Rb/E2F-induced growth arrest. (PubMed id 22249253)1 Angus S.P. and Nevins J.R. (Oncogene 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 23389 HGNC: 22962 AceView: THRAP2 Ensembl:ENSG00000123066 euGenes: HUgn23389
    ECgene: MED13L Kegg: 23389 H-InvDB: MED13L

    (According to HUGE)
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    HUGE: KIAA1025

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    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

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    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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