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

MED23 Gene

protein-coding   GIFtS: 56
GCID: GC06M131895

mediator complex subunit 23

(Previous names: cofactor required for Sp1 transcriptional activation, subunit...)
(Previous symbol: CRSP3)
 Explore 7 diseases affiliated with
MED23 via our new
 Human Malady Compendium 
Biological research products
for MED23
    

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

Aliases
Mediator Complex Subunit 231 2 3     CRSP1332
CRSP31 2 3     MRT182
DRIP1301 2 3     SUR-22
CRSP1301 2     Mediator Of RNA Polymerase II Transcription Subunit 232
Activator-Recruited Cofactor 130 KDa Component2 3     Vitamin D3 Receptor Interacting Protein2
Cofactor Required For Sp1 Transcriptional Activation Subunit 32 3     KIAA12163
ARC1302 3     CRSP Complex Subunit 33
SUR22 3     HSur-21
Sur21     Protein Sur-2 Homolog3
Cofactor Required For Sp1 Transcriptional Activation, Subunit 3, 130kDa1     Transcriptional Coactivator CRSP1303
130 KDa Transcriptional Co-Activator2     Vitamin D3 Receptor-Interacting Protein Complex 130 KDa Component3
133 KDa Transcriptional Co-Activator2     

External Ids:    HGNC: 23721   Entrez Gene: 94392   Ensembl: ENSG000001122827   OMIM: 6050425   UniProtKB: Q9ULK43   

Export aliases for MED23 gene to outside databases

Previous GC identifers: GC06M131937 GC06M129476


(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 MED23:
The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional
enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA
polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1
activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a
component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with
TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. This protein also
acts as a metastasis suppressor. Several alternatively spliced transcript variants encoding different isoforms have
been described for this gene. (provided by RefSeq, Jul 2012)

UniProtKB/Swiss-Prot: MED23_HUMAN, Q9ULK4
Function: Required for transcriptional activation subsequent to the assembly of the preinitiation complex (By
similarity). 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. Required for transcriptional activation by adenovirus
E1A protein. Required for ELK1-dependent transcriptional activation in response to activated Ras signaling

Gene Wiki entry for MED23 (CRSP3)


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.1  NT_025741.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MED23 gene promoter:
         GR   HFH-3   AML1a   GR-beta   Lmo2   FOXI1   SRY   FOXO4   Sox9   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMED23 promoter sequence
   Search SABiosciences Chromatin IP Primers for MED23

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MED23


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

Entrez Gene cytogenetic band: 6q22.33-q24.1   Ensembl cytogenetic band:  6q23.2   HGNC cytogenetic band: 6q22.33-q24.1

MED23 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MED23 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M131895:  view genomic region     (about GC identifiers)

Start:
131,895,106 bp from pter      End:
131,949,369 bp from pter
Size:
54,264 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: MED23_HUMAN, Q9ULK4 (See protein sequence)
Recommended Name: Mediator of RNA polymerase II transcription subunit 23  
Size: 1368 amino acids; 156474 Da
Subunit: Interacts with ELK1 (By similarity). Component of the Mediator complex, which is composed of MED1, MED4, MED6,
MED7, MED8, MED9, MED10, MED11, MED12, MED13, MED13L, MED14, MED15, MED16, MED17, MED18, MED19, MED20, MED21, MED22,
MED23, MED24, MED25, MED26, MED27, MED29, MED30, MED31, CCNC, CDK8 and CDC2L6/CDK11. The MED12, MED13, CCNC and CDK8
subunits form a distinct module termed the CDK8 module. Mediator containing the CDK8 module is less active than
Mediator lacking this module in supporting transcriptional activation. Individual preparations of the Mediator complex
lacking one or more distinct subunits have been variously termed ARC, CRSP, DRIP, PC2, SMCC and TRAP. Interacts with
CEBPB, CTNNB1, and GLI3. Interacts with the adenovirus E1A protein
Subcellular location: Nucleus (Probable)
Sequence caution: Sequence=AAD12724.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=AAD31729.1; Type=Frameshift; Positions=945, 950; Sequence=BAA86530.1; Type=Erroneous initiation;
Note=Translation N-terminally shortened;
Secondary accessions: O95403 Q5JWT3 Q5JWT4 Q6P9H6 Q9H0J2 Q9NTT9 Q9NTU0 Q9Y5P7 Q9Y667
Alternative splicing: 5 isoforms:  Q9ULK4-1   Q9ULK4-2   Q9ULK4-3   Q9ULK4-4   Q9ULK4-5   

Explore the universe of human proteins at neXtProt for MED23: NX_Q9ULK4

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9ULK4

  • MED23 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (4 alternative transcripts): 
    NP_001257450.1  NP_001257451.1  NP_004821.2  NP_057063.2  

    ENSEMBL proteins: 
     ENSP00000346588   ENSP00000357047   ENSP00000357039   ENSP00000357037   ENSP00000357032  
     ENSP00000384536   ENSP00000439977   ENSP00000437818   ENSP00000445072  
    Reactome Protein details: Q9ULK4
    Human Recombinant Protein Products: 
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    OriGene Custom Protein Services for MED23 
    GenScript Custom Purified and Recombinant Proteins Services for MED23
    Novus Biologicals MED23 Proteins
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for MED23

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005654nucleoplasm TAS--
    GO:0005667transcription factor complex IDA9989412
    GO:0016592mediator complex IEA--


    MED23 for ontologies           About GeneDecksing



    MED23 Antibody Products: 
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    Uscn ELISAs and CLIAs for MED23


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

    MED23 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR021629 Mediator_Med23

    Graphical View of Domain Structure for InterPro Entry Q9ULK4

    ProtoNet protein and cluster: Q9ULK4

    UniProtKB/Swiss-Prot: MED23_HUMAN, Q9ULK4
    Similarity: Belongs to the Mediator complex subunit 23 family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: MED23_HUMAN, Q9ULK4
    Function: Required for transcriptional activation subsequent to the assembly of the preinitiation complex (By
    similarity). 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. Required for transcriptional activation by adenovirus
    E1A protein. Required for ELK1-dependent transcriptional activation in response to activated Ras signaling

    miRNA
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    5 QIAGEN miScript miRNA Assays for microRNAs that regulate MED23:
    hsa-miR-10b* hsa-miR-2115 hsa-miR-1303 hsa-miR-15b* hsa-miR-3924
    SwitchGear 3'UTR luciferase reporter plasmidMED23 3' UTR sequence
    Inhib. RNA
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MED23 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MED23

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003713transcription coactivator activity TAS9989412
    GO:0005515protein binding IPI17438371


    MED23 for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for MED23:
     Increased cell death HMECs cel  Synthetic lethal with Ras 

    Animal Models:
         Mouse knock-out Med23tm1Berk for MED23
         6 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Med23):
     cardiovascular system  cellular  embryogenesis  growth/size  mortality/aging 
     nervous system 

    MED23 for phenotypes           About GeneDecksing


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

    Unified GeneCards pathways  About this table 
    See pathways by source

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

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for MED23
        Transcription Ligand-Dependent Transcription of Retinoid-Target genes


    1 GeneGo (Thomson Reuters) Pathway for MED23
        Transcription Ligand-Dependent Transcription of Retinoid-Target genes

    4        Reactome Pathways for MED23
        Developmental Biology
    Transcriptional Regulation of White Adipocyte Differentiation
    Generic Transcription Pathway
    Gene Expression



    MED23 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MED23

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

    5/122 Interacting proteins for MED23 (Q9ULK42, 3 ENSP000003570474) via UniProtKB, MINT, STRING, and/or I2D (see all 122)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MED1Q156482, 3, ENSP000003006514MINT-6744331 MINT-6744763 I2D: score=1 STRING: ENSP00000300651
    MED14O602442, 3, ENSP000003237204MINT-6744331 MINT-6744763 I2D: score=1 STRING: ENSP00000323720
    CDK8P493362, 3, ENSP000003709384MINT-6744763 I2D: score=1 STRING: ENSP00000370938
    MED15Q96RN52, 3, ENSP000002632054MINT-6744763 I2D: score=1 STRING: ENSP00000263205
    MED12Q930742, 3, ENSP000003631934MINT-6744331 MINT-8151872 MINT-8151888 MINT-8151852 I2D: score=2 STRING: ENSP00000363193
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006355regulation of transcription, DNA-dependent IDA9989412
    GO:0006357regulation of transcription from RNA polymerase II promoter TAS9989412
    GO:0006367transcription initiation from RNA polymerase II promoter TAS--
    GO:0010467gene expression TAS--


    MED23 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    MED23 for compounds           About GeneDecksing

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

    Browse Tocris compounds for MED23
    1 PharmGKB related drug/compound annotation for MED23 gene
    Drug/compound PharmGKB Annotation
    selective beta-2-adrenoreceptor agonistsCA  
    About this table

    Search CenterWatch for drugs/clinical trials and news about MED23 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for MED23 gene (4 alternative transcripts): 
    NM_001270521.1  NM_001270522.1  NM_004830.3  NM_015979.3  

    Unigene Cluster for MED23:

    Mediator complex subunit 23
    Hs.29679  [show with all ESTs]
    Unigene Representative Sequence: NM_004830
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000354577(uc003qcq.3) ENST00000368068(uc003qcs.1) ENST00000479213(uc003qcr.1)
    ENST00000368060(uc011eca.1) ENST00000368058 ENST00000484885 ENST00000368053
    ENST00000489888 ENST00000403834 ENST00000545957 ENST00000540546(uc003qct.1 uc011ecb.1)
    ENST00000539158

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    hsa-miR-10b* hsa-miR-2115 hsa-miR-1303 hsa-miR-15b* hsa-miR-3924
    SwitchGear 3'UTR luciferase reporter plasmidMED23 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 2): MED23 (NM_004830)
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MED23
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MED23

    Additional cDNA sequence: 

    AB033042.1 AF104255.1 AF105332.1 AF135022.1 AJ420587.1 AK304711.1 AK315030.1 AL136776.1 
    BC007088.1 BC060759.1 EU392520.1 EU392521.1 EU392522.1 EU392523.1 EU392524.1 EU392525.1 
    EU392526.1 EU392527.1 EU392528.1 EU392529.1 EU392530.1 EU392531.1 EU392532.1 

    15 DOTS entries:

    DT.412112  DT.65285082  DT.100781607  DT.433336  DT.100685938  DT.100781610  DT.97831889  DT.92429389 
    DT.100781611  DT.121372469  DT.95350276  DT.97794082  DT.91716358  DT.95364047  DT.97777601 

    24/118 AceView cDNA sequences (see all 118):

    BI335881 BF034381 AA504481 BC060759 CA489049 NM_015979 AI201868 BG776600 
    AA325467 AA418704 AL136776 AA418712 AW243916 BC007088 AL697760 AL699590 
    BU676853 BQ720920 CB267206 AA876357 R77756 CB162806 BU689464 AI554092 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for MED23    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22 ^ 23 ^ 24 ^ 25a ·
    SP1:                                                                                                                                                        -   
    SP2:                                                                                                                                                        -   
    SP3:                                                                                                                                                            

    ExUns: 25b ^ 26a · 26b ^ 27 ^ 28a · 28b
    SP1:                                    
    SP2:                                    
    SP3:                                    


    ECgene alternative splicing isoforms for MED23

    (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

    MED23 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CTTAAATGGT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    MED23 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    HeartLeft VentricleHeart
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See MED23 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MED23

    SOURCE GeneReport for Unigene cluster: Hs.29679
        SABiosciences Custom PCR Arrays for MED23
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MED23
    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MED23

    (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 eukaryotes.

    Orthologs for MED23 gene from 9/25 species (see all 25)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Med231 , 5 mediator complex subunit 231, 5 87.95(n)1
    96.34(a)1
      10 (12.26 cM)5
    702081  NM_001166416.11  NP_001159888.11 
     248699865 
    chicken
    (Gallus gallus)
    Aves MED231 mediator complex subunit 23 82.72(n)
    95.47(a)
      426927  XM_424537.3  XP_424537.3 
    lizard
    (Anolis carolinensis)
    Reptilia MED236
    --
    94(a)
    1 ↔ 1
    1(204139174-204187435)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC686852 hypothetical protein MGC68685 78.33(n)    BC063725.1 
    zebrafish
    (Danio rerio)
    Actinopterygii med231 mediator complex subunit 23 75.52(n)
    91.22(a)
      445483  NM_001003990.1  NP_001003990.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta MED231 Mediator complex subunit 23 55.63(n)
    50.27(a)
      37639  NM_137891.2  NP_611735.1 
    worm
    (Caenorhabditis elegans)
    Secernentea sur-21 Protein SUR-2 39.97(n)
    23.6(a)
      173345  NM_061174.4  NP_493575.2 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G232306
    uncharacterized protein
    14(a)
    1 ↔ 1
    1(8244440-8251795)
    rice
    (Oryza sativa)
    Liliopsida --
    expressed protein
    14(a)
    1 ↔ 1
    2(30536300-30547711)


    ENSEMBL Gene Tree for MED23 (if available)
    TreeFam Gene Tree for MED23 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

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

    10/661 NCBI SNPs in MED23 are shown (see all 661    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1118243761,2
    C,--129487255(+) GGAGAC/TGGAAG 2 -- int11Minor allele frequency- T:0.50NA 2
    rs799268781,2
    F,--129487567(+) TAAACG/TGTAAT 2 -- int11Minor allele frequency- T:0.04WA 118
    rs752568301,2
    F,--129489033(+) GCACAC/AAGCCG 4 -- ds5001 int11Minor allele frequency- A:0.07WA 118
    rs412853401,2
    C,F,--129489073(+) TCACAC/TGGTTT 4 -- ut31 int12Minor allele frequency- T:0.02WA NA 238
    rs104575731,2
    C,F,H,--129489334(+) AAGTTC/TAAGAA 4 -- ut31 int112Minor allele frequency- T:0.01NS EA NA EU 2253
    rs777075291,2
    C,--129490075(+) GGCTTG/TTGGAG 8 K Q mis10--------
    rs773123361,2
    F,--129490400(+) TATGTG/ACATGT 4 -- int11Minor allele frequency- A:0.10WA 118
    rs759889281,2
    F,--129490401(+) ATGTGC/AATGTC 4 -- int11Minor allele frequency- A:0.10WA 118
    rs790138111,2
    --129490595(+) AAAGTC/TCTTTG 4 -- int10--------
    rs793258911,2
    F,--129490683(+) AGATCT/AACTCT 4 -- int11Minor allele frequency- A:0.07WA 118

    HapMap Linkage Disequilibrium report for MED23 (131895106 - 131949369 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for MED23: --
    Human Gene Mutation Database (HGMD): MED23

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MED23
    DNA2.0 Custom Variant and Variant Library Synthesis for MED23

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    MED23 for disorders           About GeneDecksing

    OMIM gene information: 605042    OMIM disorders: --

    UniProtKB/Swiss-Prot: MED23_HUMAN, Q9ULK4
  • Defects in MED23 are the cause of mental retardation autosomal recessive type 18 (MRT18) [MIM:614249]. Mental
  • retardation is characterized by significantly below average general intellectual functioning associated with
    impairments in adaptative behavior and manifested during the developmental period

    7 diseases for MED23:    About MalaCards
    thyroiditis    conjunctivitis    intellectual disability    melanoma metastasis
    melanoma    cholesterol    neuronitis

    Human Genome Epidemiology (HuGE) Navigator: MED23 (4 documents)

    Export disorders for MED23 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 MED23 gene, integrated from 9 sources (see all 60):
    (articles sorted by number of sources associating them with MED23)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The transcriptional cofactor complex CRSP is required for activity of the enhancer-binding protein Sp1. (PubMed id 9989412)1, 2, 3 Ryu S.... Tjian R. (1999)
    2. MED23 mutation links intellectual disability to dysregulation of immediate early gene expression. (PubMed id 21868677)1, 2 Hashimoto S....Colleaux L. (2011)
    3. MED1/TRAP220 exists predominantly in a TRAP/Mediator subpopulation enriched in RNA polymerase II and is required for ER-mediated transcription. (PubMed id 15989967)1, 2 Zhang X....Roeder R.G. (2005)
    4. Ras induces mediator complex exchange on C/EBP beta. (PubMed id 14759369)1, 2 Mo X.... Leutz A. (2004)
    5. A set of consensus mammalian mediator subunits identified by multidimensional protein identification technology. (PubMed id 15175163)1, 2 Sato S....Conaway R.C. (2004)
    6. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
    7. The TRAP/Mediator coactivator complex interacts directly with estrogen receptors alpha and beta through the TRAP220 subunit and directly enhances estrogen receptor function in vitro. (PubMed id 11867769)1, 2 Kang Y.K.... Roeder R.G. (2002)
    8. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2 Wiemann S.... Poustka A. (2001)
    9. Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10574462)1, 2 Nagase T.... Ohara O. (1999)
    10. Mammalian Srb/Mediator complex is targeted by adenovirus E1A protein. (PubMed id 10353252)1, 2 Boyer T.G.... Berk A.J. (1999)

    (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: 9439 HGNC: 2372 AceView: CRSP3 Ensembl:ENSG00000112282 euGenes: HUgn9439
    ECgene: MED23 H-InvDB: MED23

    (According to HUGE)
    About This Section
    HUGE: KIAA1216

    (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 MED23 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 MED23 gene:
    Search GeneIP for patents involving MED23

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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     Regulatory tfbs in MED23 promoter
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