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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
MED23
mediator complex subunit 23
Chromosome 6 Β· 6q23.2
NCBI Gene: 9439Ensembl: ENSG00000112282.19HGNC: HGNC:2372UniProt: Q05DL5
131PubMed Papers
21Diseases
0Drugs
22Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTranscription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
transcription regulator complexprotein bindingnucleusregulation of DNA-templated transcriptionautosomal recessive non-syndromic intellectual disabilityarginase deficiencytype 2 diabetes mellitusgenetic disorder
✦AI Summary

MED23 is a crucial subunit of the Mediator complex that serves as a transcriptional coactivator bridging gene-specific regulatory proteins to RNA polymerase II machinery 1. The protein functions beyond transcription initiation, coordinating transcription elongation, mRNA processing, and termination through direct interactions with 3' end processing factors like CPSF via MED23-FIP1 connections 2. MED23 directly binds hundreds of 3' mRNAs and regulates transcription termination, with deficiency leading to readthrough events and fusion transcripts 2. The protein mediates ELK1-dependent transcriptional activation in response to Ras-MAPK signaling, with structural studies revealing that phosphorylated ELK1 binds MED23 through a hydrophobic sequence containing phosphorylated S383, inducing allosteric changes 1. Disease relevance includes intellectual disability, where the R617Q mutation disrupts gene expression by altering chr6 conformation and enhancer activities, particularly affecting the MED23-DACH1-IEG axis involved in neural development and memory 3. In cancer, MED23 plays oncogenic roles through various mechanisms including alternative polyadenylation regulation 4 and hepatocellular carcinoma progression via the MED23-IGF2-NQO1 axis 5. Clinical significance extends to therapeutic targeting, with compounds disrupting ELF3-MED23 interactions showing promise in HER2-overexpressing cancers 6.

Sources cited
1
MED23 serves as transcriptional coactivator and mediates ELK1-dependent activation with structural details of phosphorylated ELK1 binding
PMID: 40263353
2
MED23 coordinates transcription termination through CPSF complex interactions and directly binds 3' mRNAs
PMID: 40441154
3
R617Q mutation causes intellectual disability by disrupting gene expression and chromatin conformation via MED23-DACH1-IEG axis
PMID: 36718943
4
MED23 involvement in cancer through alternative polyadenylation regulation
PMID: 37999979
5
MED23 role in hepatocellular carcinoma through MED23-IGF2-NQO1 axis
PMID: 41436431
6
ELF3-MED23 interaction as therapeutic target in HER2-overexpressing cancers
PMID: 39641248
Disease Associationsβ“˜21
autosomal recessive non-syndromic intellectual disabilityOpen Targets
0.63Moderate
arginase deficiencyOpen Targets
0.57Moderate
type 2 diabetes mellitusOpen Targets
0.50Moderate
genetic disorderOpen Targets
0.47Moderate
neurodegenerative diseaseOpen Targets
0.46Moderate
Intellectual disabilityOpen Targets
0.44Moderate
metabolic syndromeOpen Targets
0.32Weak
breast adenocarcinomaOpen Targets
0.29Weak
Neurodevelopmental disorderOpen Targets
0.27Weak
syndromic intellectual disabilityOpen Targets
0.19Weak
oral cavity carcinomaOpen Targets
0.16Weak
breast carcinomaOpen Targets
0.15Weak
obesityOpen Targets
0.11Weak
Fraser syndromeOpen Targets
0.11Weak
diabetes mellitusOpen Targets
0.10Suggestive
neoplasmOpen Targets
0.08Suggestive
pulmonary arterial hypertensionOpen Targets
0.07Suggestive
Neoplasm of the lungOpen Targets
0.07Suggestive
Pallister-Hall syndromeOpen Targets
0.07Suggestive
breast cancerOpen Targets
0.07Suggestive
Intellectual developmental disorder, autosomal recessive 18, with or without epilepsyUniProt
Pathogenic Variants22
NM_004830.4(MED23):c.3353C>G (p.Ser1118Ter)Pathogenic
not provided|Intellectual disability, autosomal recessive 18|MED23-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 1118
NM_004830.4(MED23):c.3983G>C (p.Arg1328Pro)Pathogenic
Intellectual disability, autosomal recessive 18
β˜…β˜†β˜†β˜†2026β†’ Residue 1328
NM_004830.4(MED23):c.3508_3511del (p.Val1171fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 1171
NM_004830.4(MED23):c.479T>C (p.Leu160Pro)Likely pathogenic
not provided|Intellectual disability, autosomal recessive 18
β˜…β˜†β˜†β˜†2024β†’ Residue 160
NM_004830.4(MED23):c.2750G>A (p.Trp917Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 917
NM_004830.4(MED23):c.815dup (p.Tyr272Ter)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2022β†’ Residue 272
NM_004830.4(MED23):c.597+1G>TPathogenic
not provided
β˜…β˜†β˜†β˜†2021
NM_004830.4(MED23):c.1832G>A (p.Arg611Gln)Likely pathogenic
Intellectual disability, autosomal recessive 18|not provided
β˜…β˜†β˜†β˜†2021β†’ Residue 611
NM_004830.4(MED23):c.1387A>T (p.Arg463Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2020β†’ Residue 463
NM_004830.4(MED23):c.953del (p.Glu318fs)Likely pathogenic
Intellectual disability
β˜…β˜†β˜†β˜†2020β†’ Residue 318
NM_004830.4(MED23):c.1181C>T (p.Pro394Leu)Likely pathogenic
Intellectual disability, autosomal recessive 18
β˜…β˜†β˜†β˜†2019β†’ Residue 394
NM_004830.4(MED23):c.2832dup (p.Val945fs)Pathogenic
Intellectual disability, autosomal recessive 18
β˜…β˜†β˜†β˜†2018β†’ Residue 945
NM_004830.4(MED23):c.2368_2371del (p.Leu790fs)Likely pathogenic
Intellectual disability, autosomal recessive 18
β˜…β˜†β˜†β˜†2017β†’ Residue 790
NM_004830.4(MED23):c.599T>G (p.Leu200Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2017β†’ Residue 200
NM_004830.4(MED23):c.670C>G (p.Arg224Gly)Pathogenic
Intellectual disability, autosomal recessive 18
β˜…β˜†β˜†β˜†2017β†’ Residue 224
NM_004830.4(MED23):c.1932-1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2016
NM_004830.4(MED23):c.3145del (p.Tyr1048_Leu1049insTer)Likely pathogenic
Intellectual disability, autosomal recessive 18
β˜…β˜†β˜†β˜†β†’ Residue 1048
NM_004830.4(MED23):c.3142T>A (p.Tyr1048Asn)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†β†’ Residue 1048
NM_004830.4(MED23):c.506A>G (p.Tyr169Cys)Pathogenic
Intellectual disability, autosomal recessive 18
β˜†β˜†β˜†β˜†2022β†’ Residue 169
NM_004830.4(MED23):c.1919A>G (p.Gln640Arg)Pathogenic
Intellectual disability, autosomal recessive 18
β˜†β˜†β˜†β˜†2021β†’ Residue 640
View on ClinVar β†—
Related Genes
MED26Protein interaction100%MED18Protein interaction100%NR1I3Protein interaction100%MED9Protein interaction100%CCNCProtein interaction100%CDK8Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
47%
Lung
33%
Liver
31%
Heart
28%
Brain
27%
Gene Interaction Network
Click a node to explore
MED23MED26MED18NR1I3MED9CCNCCDK8
PROTEIN STRUCTURE
Preparing viewer…
PDB6H02 Β· 2.80 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.77LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.65 [0.55–0.77]
RankingsWhere MED23 stands among ~20K protein-coding genes
  • #3,566of 20,598
    Most Researched131 Β· top quartile
  • #2,097of 5,498
    Most Pathogenic Variants22
  • #6,209of 17,882
    Most Constrained (LOEUF)0.77
Genes detectedMED23
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Mediator regulates transcriptional termination through crosstalk with pre-mRNA 3' end processing factors.
PMID: 40441154
Mol Cell Β· 2025
1.00
2
An intellectual disability-related MED23 mutation dysregulates gene expression by altering chromatin conformation and enhancer activities.
PMID: 36718943
Nucleic Acids Res Β· 2023
0.90
3
LINC00921 reduces lung cancer radiosensitivity by destabilizing NUDT21 and driving aberrant MED23 alternative polyadenylation.
PMID: 37999979
Cell Rep Β· 2023
0.80
4
Targeting the HER2-ELF3-KRAS axis: a novel therapeutic strategy for KRAS
PMID: 40340861
Mol Cancer Β· 2025
0.70
5
Structural basis of human Mediator recruitment by the phosphorylated transcription factor Elk-1.
PMID: 40263353
Nat Commun Β· 2025
0.60