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

Gene ID: 9439, updated on 3-Nov-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
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (131573966..131628313, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (132768443..132822783, complement)
RS_2024_09 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 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. MED23 pathogenic variant: genomic-phenotypic analysis. Bamaga A, et al. J Med Life, 2024 May. PMID 39144687, Free PMC Article
  2. 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
  3. MED23-associated refractory epilepsy successfully treated with the ketogenic diet. Lionel AC, et al. Am J Med Genet A, 2016 Sep. PMID 27311965
  4. Crystal structure of human Mediator subunit MED23. Monté D, et al. Nat Commun, 2018 Aug 23. PMID 30140054, Free PMC Article
  5. Mutational Heterogeneity of MED23 Gene in Colorectal Cancers. Jo YS, et al. Pathol Oncol Res, 2015 Sep. PMID 26152846

See all (128) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. MED23 depletion induces premature senescence in NSCLC cells by interacting with BCLAF1 and then suppressing NUPR1 expression.
    Title: MED23 depletion induces premature senescence in NSCLC cells by interacting with BCLAF1 and then suppressing NUPR1 expression.
  2. MED23 pathogenic variant: genomic-phenotypic analysis.
    Title: MED23 pathogenic variant: genomic-phenotypic analysis.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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.
Submit: New GeneRIF Correction See all GeneRIFs (19)

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
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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)

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_2024_08

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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