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    MED23 mediator complex subunit 23 [ Homo sapiens (human) ]

    Gene ID: 9439, updated on 5-May-2024

    Summary

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    Official Symbol
    MED23provided by HGNC
    Official Full Name
    mediator complex subunit 23provided by HGNC
    Primary source
    HGNC:HGNC:2372
    See related
    Ensembl:ENSG00000112282 MIM:605042; AllianceGenome:HGNC:2372
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SUR2; CRSP3; MRT18; SUR-2; ARC130; CRSP130; CRSP133; DRIP130
    Summary
    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]
    Expression
    Ubiquitous expression in thyroid (RPKM 9.5), lymph node (RPKM 8.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MED23 in Genome Data Viewer
    Location:
    6q23.2
    Exon count:
    34
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (131573966..131628313, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (132768443..132822783, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (131895106..131949453, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378005 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:131677980-131679179 Neighboring gene ribosomal protein L21 pseudogene 67 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:131825416-131826081 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:131852503-131853004 Neighboring gene NANOG hESC enhancer GRCh37_chr6:131893832-131894333 Neighboring gene arginase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25066 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25067 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17546 Neighboring gene RNA, U4 small nuclear 18, pseudogene Neighboring gene ectonucleotide pyrophosphatase/phosphodiesterase 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25068 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:132021641-132022226 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:132022227-132022812 Neighboring gene olfactory receptor family 2 subfamily A member 4

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Novel mutation in the MED23 gene for intellectual disability: A case report and literature review. Hashemi-Gorji F, et al. Clin Case Rep, 2019 Feb. PMID 30847200, Free PMC Article
    2. Crystal structure of human Mediator subunit MED23. Monté D, et al. Nat Commun, 2018 Aug 23. PMID 30140054, Free PMC Article
    3. Effect of l-arginine, asymmetric dimethylarginine, and symmetric dimethylarginine on ischemic heart disease risk: A Mendelian randomization study. Au Yeung SL, et al. Am Heart J, 2016 Dec. PMID 27914500
    4. MED23-associated refractory epilepsy successfully treated with the ketogenic diet. Lionel AC, et al. Am J Med Genet A, 2016 Sep. PMID 27311965
    5. Mutational Heterogeneity of MED23 Gene in Colorectal Cancers. Jo YS, et al. Pathol Oncol Res, 2015 Sep. PMID 26152846

    See all (111) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. LINC00921 reduces lung cancer radiosensitivity by destabilizing NUDT21 and driving aberrant MED23 alternative polyadenylation.
      Title: LINC00921 reduces lung cancer radiosensitivity by destabilizing NUDT21 and driving aberrant MED23 alternative polyadenylation.
    2. intra-tumor heterogeneity data suggest that there could be an under- or over-estimation of the occurrence of MED23 frameshift mutations in microsatellite instability-high colorectal cancers
      Title: Mutational Heterogeneity of MED23 Gene in Colorectal Cancers.
    3. MED23 adopts an arch-shaped conformation, with an N-terminal domain (Nter) protruding from a large core region.
      Title: Crystal structure of human Mediator subunit MED23.
    4. This is the first patient with documented refractory epilepsy caused by a novel homozygous pathogenic variant in MED23 expanding the phenotypic spectrum. Identification of the underlying genetic defect in MED23 sheds light on the possible mechanism of complete response to the ketogenic diet in this child.
      Title: MED23-associated refractory epilepsy successfully treated with the ketogenic diet.
    5. a 7-gene signature was identified which correctly predicted the primary prefibrotic myelofibrosis group with a sensitivity of 100% and a specificity of 89%. The 7 genes included MPO, CEACAM8, CRISP3, MS4A3, CEACAM6, HEMGN, and MMP8
      Title: A 7-Gene Signature Depicts the Biochemical Profile of Early Prefibrotic Myelofibrosis.
    6. Higher l-arginine was associated with higher risk of Ischemic heart disease (odds ratio and of myocardial infarction, based on 2 SNPs from MED23.
      Title: Effect of l-arginine, asymmetric dimethylarginine, and symmetric dimethylarginine on ischemic heart disease risk: A Mendelian randomization study.
    7. MED23-associated intellectual disability has been found in two brothers from a non-consanguineous family.
      Title: MED23-associated intellectual disability in a non-consanguineous family.
    8. MED23 plays an important role in hepatocarcinogenesis, and it may be a novel target for HCC therapy.
      Title: Mediator subunit 23 overexpression as a novel target for suppressing proliferation and tumorigenesis in hepatocellular carcinoma.
    9. Upregulation of mediator MED23 in non-small-cell lung cancer promotes the growth, migration, and metastasis of cancer cells.
      Title: Upregulation of mediator MED23 in non-small-cell lung cancer promotes the growth, migration, and metastasis of cancer cells.
    10. Mediator MED23 regulates basal transcription in vivo via an interaction with P-TEFb.
      Title: Mediator MED23 regulates basal transcription in vivo via an interaction with P-TEFb.
    Submit: New GeneRIF Correction See all GeneRIFs (17)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Intellectual disability, autosomal recessive 18
    MedGen: C3280265 OMIM: 614249 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Genome-Wide Association Study of L-Arginine and Dimethylarginines Reveals Novel Metabolic Pathway for Symmetric Dimethylarginine.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • DKFZp434H0117

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transcription coactivator activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in RNA polymerase II preinitiation complex assembly NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of T cell extravasation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of gene expression IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of transcription elongation by RNA polymerase II NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of transcription initiation by RNA polymerase II NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    acts_upstream_of_or_within regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in transcription initiation at RNA polymerase II promoter TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of core mediator complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    part_of mediator complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of transcription regulator complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of transcription regulator complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    mediator of RNA polymerase II transcription subunit 23
    Names
    130 kDa transcriptional co-activator
    133 kDa transcriptional co-activator
    activator-recruited cofactor 130 kDa component
    cofactor required for Sp1 transcriptional activation subunit 3
    vitamin D3 receptor interacting protein

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_031860.2 RefSeqGene

      Range
      4982..59258
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001270521.2 → NP_001257450.1  mediator of RNA polymerase II transcription subunit 23 isoform c

      See identical proteins and their annotated locations for NP_001257450.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice junction in the 3' end compared to variant 1. The resulting isoform (c) has a shorter and distinct C-terminus compared to isoform a.
      Source sequence(s)
      AL121575, AW295188, BC007088, BC060759, DB453121
      UniProtKB/TrEMBL
      Q5JWT2
      Conserved Domains (1) summary
      pfam11573
      Location:1 → 1307
      Med23; Mediator complex subunit 23

    2. NM_001270522.2 → NP_001257451.1  mediator of RNA polymerase II transcription subunit 23 isoform d

      See identical proteins and their annotated locations for NP_001257451.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate splice junction in the 3' end compared to variant 1. The resulting isoform (d) has a shorter and distinct C-terminus compared to isoform a.
      Source sequence(s)
      AB033042, AF135022, AI249380, AL121575, DB453121
      Consensus CDS
      CCDS59039.1
      UniProtKB/TrEMBL
      Q5JWT2
      Related
      ENSP00000357039.3, ENST00000368060.7
      Conserved Domains (1) summary
      pfam11573
      Location:1 → 1307
      Med23; Mediator complex subunit 23

    3. NM_001376517.1 → NP_001363446.1  mediator of RNA polymerase II transcription subunit 23 isoform e

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) represents the longest transcript and encodes the longest isoform (e).
      Source sequence(s)
      AL121575
      UniProtKB/TrEMBL
      Q5JWT2
      Related
      ENSP00000357037.1, ENST00000368058.5
      Conserved Domains (1) summary
      pfam11573
      Location:1 → 1313
      Med23; Mediator complex subunit 23

    4. NM_001376518.1 → NP_001363447.1  mediator of RNA polymerase II transcription subunit 23 isoform f

      Status: REVIEWED

      Source sequence(s)
      AL121575
      UniProtKB/TrEMBL
      Q5JWT2
      Conserved Domains (1) summary
      pfam11573
      Location:1 → 1289
      Med23; Mediator complex subunit 23

    5. NM_001376519.1 → NP_001363448.1  mediator of RNA polymerase II transcription subunit 23 isoform g

      Status: REVIEWED

      Source sequence(s)
      AL121575
      UniProtKB/TrEMBL
      Q5JWT2
      Conserved Domains (1) summary
      pfam11573
      Location:1 → 1261
      Med23; Mediator complex subunit 23

    6. NM_001376520.1 → NP_001363449.1  mediator of RNA polymerase II transcription subunit 23 isoform h

      Status: REVIEWED

      Source sequence(s)
      AL121575
      UniProtKB/TrEMBL
      Q5JWT2
      Conserved Domains (1) summary
      pfam11573
      Location:1 → 1260
      Med23; Mediator complex subunit 23

    7. NM_001376521.1 → NP_001363450.1  mediator of RNA polymerase II transcription subunit 23 isoform i

      Status: REVIEWED

      Source sequence(s)
      AL121575
      UniProtKB/TrEMBL
      Q5JWT2
      Conserved Domains (1) summary
      pfam11573
      Location:1 → 1261
      Med23; Mediator complex subunit 23

    8. NM_001376522.1 → NP_001363451.1  mediator of RNA polymerase II transcription subunit 23 isoform j

      Status: REVIEWED

      Source sequence(s)
      AL121575
      UniProtKB/TrEMBL
      Q5JWT2
      Conserved Domains (1) summary
      pfam11573
      Location:1 → 1250
      Med23; Mediator complex subunit 23

    9. NM_001376523.1 → NP_001363452.1  mediator of RNA polymerase II transcription subunit 23 isoform k

      Status: REVIEWED

      Source sequence(s)
      AL121575
      UniProtKB/TrEMBL
      Q5JWT2
      Conserved Domains (1) summary
      pfam11573
      Location:1 → 1222
      Med23; Mediator complex subunit 23

    10. NM_001376524.1 → NP_001363453.1  mediator of RNA polymerase II transcription subunit 23 isoform l

      Status: REVIEWED

      Source sequence(s)
      AL121575
      UniProtKB/TrEMBL
      Q5JWT2
      Conserved Domains (1) summary
      pfam11573
      Location:1 → 1178
      Med23; Mediator complex subunit 23

    11. NM_004830.4 → NP_004821.2  mediator of RNA polymerase II transcription subunit 23 isoform a

      See identical proteins and their annotated locations for NP_004821.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform a.
      Source sequence(s)
      AB033042, AI249380, AL121575, DB453121
      Consensus CDS
      CCDS5147.1
      UniProtKB/Swiss-Prot
      B9TX55, O95403, Q5JWT3, Q5JWT4, Q6P9H6, Q9H0J2, Q9NTT9, Q9NTU0, Q9ULK4, Q9Y5P7, Q9Y667
      UniProtKB/TrEMBL
      Q5JWT2
      Related
      ENSP00000357047.3, ENST00000368068.8
      Conserved Domains (1) summary
      pfam11573
      Location:1 → 1307
      Med23; Mediator complex subunit 23

    12. NM_015979.4 → NP_057063.2  mediator of RNA polymerase II transcription subunit 23 isoform b

      See identical proteins and their annotated locations for NP_057063.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate in-frame exon and uses an alternate splice junction in the 3' end compared to variant 1. The resulting isoform (b) contains an alternate short internal segment and is shorter at the C-terminus compared to isoform a.
      Source sequence(s)
      AL121575, AL136776, AW295188, BC060759, DB453121
      Consensus CDS
      CCDS5146.1
      UniProtKB/TrEMBL
      Q5JWT2
      Related
      ENSP00000346588.4, ENST00000354577.8
      Conserved Domains (1) summary
      pfam11573
      Location:1 → 1313
      Med23; Mediator complex subunit 23

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      131573966..131628313 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011536257.4 → XP_011534559.1  mediator of RNA polymerase II transcription subunit 23 isoform X1

      See identical proteins and their annotated locations for XP_011534559.1

      UniProtKB/TrEMBL
      Q5JWT2
      Conserved Domains (1) summary
      pfam11573
      Location:1 → 1275
      Med23; Mediator complex subunit 23

    2. XM_047419565.1 → XP_047275521.1  mediator of RNA polymerase II transcription subunit 23 isoform X2

    3. XM_006715612.4 → XP_006715675.1  mediator of RNA polymerase II transcription subunit 23 isoform X3

      Related
      ENSP00000357032.4, ENST00000368053.8
      Conserved Domains (1) summary
      pfam11573
      Location:1 → 746
      Med23; Mediator complex subunit 23

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      132768443..132822783 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054356828.1 → XP_054212803.1  mediator of RNA polymerase II transcription subunit 23 isoform X1

    2. XM_054356829.1 → XP_054212804.1  mediator of RNA polymerase II transcription subunit 23 isoform X2

    3. XM_054356830.1 → XP_054212805.1  mediator of RNA polymerase II transcription subunit 23 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9ULK4.2 GenPept UniProtKB/Swiss-Prot:Q9ULK4

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