MED23
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Also known as CRSP130DRIP130Sur2
Summary
MED23 (mediator complex subunit 23, HGNC:2372) is a protein-coding gene on chromosome 6q23.2, encoding Mediator of RNA polymerase II transcription subunit 23 (Q9ULK4). Required for transcriptional activation subsequent to the assembly of the pre-initiation complex. It is a selective cancer dependency (DepMap: 20.4% of cell lines).
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.
Source: NCBI Gene 9439 — RefSeq curated summary.
At a glance
- Gene–disease (curated): intellectual disability, autosomal recessive 18 (Strong, GenCC) — +2 more curated relationships
- GWAS associations: 2
- Clinical variants (ClinVar): 347 total — 16 pathogenic, 15 likely-pathogenic
- Phenotypes (HPO): 26
- Druggable target: yes — 1 molecules with ChEMBL bioactivity
- Cancer driver (intOGen): loss-of-function (tumor-suppressor-like) across 1 cancer types
- Cancer dependency (DepMap): dependent in 20.4% of screened cell lines
- MANE Select transcript:
NM_004830
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:2372 |
| Approved symbol | MED23 |
| Name | mediator complex subunit 23 |
| Location | 6q23.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CRSP130, DRIP130, Sur2 |
| Ensembl gene | ENSG00000112282 |
| Ensembl biotype | protein_coding |
| OMIM | 605042 |
| Entrez | 9439 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 7 protein_coding, 3 protein_coding_CDS_not_defined
ENST00000354577, ENST00000368053, ENST00000368058, ENST00000368060, ENST00000368068, ENST00000479213, ENST00000484885, ENST00000489888, ENST00000539158, ENST00000883258
RefSeq mRNA: 12 — MANE Select: NM_004830
NM_001270521, NM_001270522, NM_001376517, NM_001376518, NM_001376519, NM_001376520, NM_001376521, NM_001376522, NM_001376523, NM_001376524, NM_004830, NM_015979
CCDS: CCDS5146, CCDS5147, CCDS59039
Canonical transcript exons
ENST00000368068 — 29 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000763903 | 131598556 | 131598761 |
| ENSE00000763904 | 131598287 | 131598467 |
| ENSE00000763906 | 131596518 | 131596688 |
| ENSE00000763923 | 131593006 | 131593171 |
| ENSE00001239178 | 131595947 | 131596163 |
| ENSE00001239211 | 131592388 | 131592460 |
| ENSE00001360585 | 131586732 | 131587846 |
| ENSE00002433787 | 131623351 | 131623462 |
| ENSE00002435309 | 131615907 | 131616002 |
| ENSE00002440561 | 131624865 | 131624989 |
| ENSE00002443375 | 131604178 | 131604320 |
| ENSE00002445073 | 131619827 | 131619896 |
| ENSE00002450530 | 131621881 | 131621979 |
| ENSE00002454886 | 131602218 | 131602381 |
| ENSE00002462934 | 131618407 | 131618519 |
| ENSE00002484276 | 131605240 | 131605485 |
| ENSE00002486990 | 131600038 | 131600162 |
| ENSE00002496051 | 131606479 | 131606624 |
| ENSE00002519291 | 131627396 | 131627483 |
| ENSE00002521411 | 131620628 | 131620729 |
| ENSE00002524881 | 131607928 | 131608071 |
| ENSE00002536568 | 131610046 | 131610246 |
| ENSE00003553030 | 131589465 | 131589596 |
| ENSE00003584394 | 131627641 | 131627672 |
| ENSE00003588291 | 131591313 | 131591527 |
| ENSE00003601507 | 131594099 | 131594335 |
| ENSE00003605356 | 131590322 | 131590442 |
| ENSE00003655610 | 131603030 | 131603204 |
| ENSE00003843964 | 131628011 | 131628242 |
Expression profiles
Bgee: expression breadth ubiquitous, 283 present calls, max score 91.73.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.9427 / max 188.4298, expressed in 1809 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 75558 | 14.6655 | 1799 |
| 75557 | 2.2772 | 1171 |
Top tissues by expression
288 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right hemisphere of cerebellum | UBERON:0014890 | 91.73 | gold quality |
| calcaneal tendon | UBERON:0003701 | 91.48 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 91.44 | gold quality |
| cerebellar cortex | UBERON:0002129 | 91.38 | gold quality |
| adrenal tissue | UBERON:0018303 | 91.33 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 90.81 | gold quality |
| cerebellum | UBERON:0002037 | 90.67 | gold quality |
| endometrium | UBERON:0001295 | 90.46 | gold quality |
| body of pancreas | UBERON:0001150 | 90.09 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 89.98 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 89.91 | gold quality |
| secondary oocyte | CL:0000655 | 89.60 | gold quality |
| pylorus | UBERON:0001166 | 89.48 | gold quality |
| colonic epithelium | UBERON:0000397 | 89.31 | gold quality |
| bone marrow cell | CL:0002092 | 89.22 | gold quality |
| rectum | UBERON:0001052 | 89.14 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 89.10 | gold quality |
| jejunal mucosa | UBERON:0000399 | 89.09 | gold quality |
| urethra | UBERON:0000057 | 89.04 | gold quality |
| right uterine tube | UBERON:0001302 | 89.00 | gold quality |
| colonic mucosa | UBERON:0000317 | 88.93 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 88.71 | gold quality |
| ovary | UBERON:0000992 | 88.67 | gold quality |
| left ovary | UBERON:0002119 | 88.64 | gold quality |
| body of uterus | UBERON:0009853 | 88.59 | gold quality |
| thyroid gland | UBERON:0002046 | 88.56 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 88.54 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 88.53 | gold quality |
| mucosa of stomach | UBERON:0001199 | 88.51 | gold quality |
| uterus | UBERON:0000995 | 88.44 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 4.52 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
2 targets.
| Target | Regulation |
|---|---|
| KISS1 | Activation |
| TXNIP | Unknown |
Upstream regulators (CollecTRI, top): ELF3, STAT1
miRNA regulators (miRDB)
34 targeting MED23, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-574-5P | 100.00 | 66.01 | 989 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-8063 | 99.91 | 69.76 | 3146 |
| HSA-MIR-1290 | 99.59 | 69.90 | 2079 |
| HSA-MIR-516A-3P | 99.46 | 67.96 | 1378 |
| HSA-MIR-516B-3P | 99.46 | 67.96 | 1378 |
| HSA-MIR-7162-5P | 99.46 | 68.08 | 1368 |
| HSA-MIR-1276 | 99.36 | 68.18 | 1642 |
| HSA-MIR-520F-5P | 99.34 | 70.40 | 1632 |
| HSA-MIR-4311 | 99.31 | 70.47 | 3041 |
| HSA-MIR-361-3P | 99.19 | 66.45 | 1381 |
| HSA-MIR-628-3P | 99.04 | 68.37 | 814 |
| HSA-MIR-6737-3P | 98.95 | 68.56 | 1577 |
| HSA-MIR-7157-3P | 98.95 | 68.70 | 1582 |
| HSA-MIR-219A-1-3P | 98.91 | 67.87 | 639 |
| HSA-MIR-6889-3P | 98.84 | 67.35 | 1198 |
| HSA-MIR-5008-3P | 98.73 | 67.50 | 1433 |
| HSA-MIR-606 | 98.72 | 67.34 | 960 |
| HSA-MIR-583 | 98.71 | 67.44 | 1791 |
| HSA-MIR-6529-3P | 98.68 | 66.76 | 1020 |
| HSA-MIR-1246 | 98.54 | 66.21 | 959 |
| HSA-MIR-3187-5P | 98.36 | 65.74 | 1776 |
| HSA-MIR-541-5P | 98.24 | 67.77 | 1181 |
| HSA-MIR-6881-3P | 98.04 | 68.24 | 1777 |
| HSA-MIR-3664-3P | 97.85 | 67.62 | 1452 |
| HSA-MIR-1285-3P | 97.72 | 67.02 | 1932 |
| HSA-MIR-5189-5P | 97.72 | 66.96 | 1814 |
| HSA-MIR-618 | 97.62 | 67.46 | 861 |
| HSA-MIR-612 | 97.26 | 65.95 | 1597 |
| HSA-MIR-6860 | 97.21 | 66.31 | 1656 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 20.4% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 17)
- Sur2(CRSP3) is required for activation by Adenovirus E1A CR3 activation domain and is required for MAPK-mediated activation of Elk-1. (PMID:11934987)
- DRIP130 regulates HER2 expression by binding to ESX (PMID:12242338)
- loss of DRIP-130 expression, as a result of the gross loss of human chromosome 6q16.3-q23, provokes increased tumor metastasis (PMID:16964286)
- missense mutation (p. R617Q) in MED23 that cosegregates with nonsyndromic autosomal recessive intellectual disability; mutation impaired response of JUN and FOS to mitogens by altering interaction between enhancer-bound transcription factors and Mediator (PMID:21868677)
- Data show that Med23 RNAi specifically inhibits the proliferation and tumorigenicity of lung cancer cells with hyperactive Ras activity. (PMID:22988093)
- Mediator MED23 regulates basal transcription in vivo via an interaction with P-TEFb. (PMID:23340209)
- Upregulation of mediator MED23 in non-small-cell lung cancer promotes the growth, migration, and metastasis of cancer cells. (PMID:25273169)
- MED23 plays an important role in hepatocarcinogenesis, and it may be a novel target for HCC therapy. (PMID:25684393)
- MED23-associated intellectual disability has been found in two brothers from a non-consanguineous family. (PMID:25845469)
- 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 (PMID:26152846)
- 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. (PMID:27311965)
- 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 (PMID:27579896)
- Higher l-arginine was associated with higher risk of Ischemic heart disease (odds ratio and of myocardial infarction, based on 2 SNPs from MED23. (PMID:27914500)
- MED23 adopts an arch-shaped conformation, with an N-terminal domain (Nter) protruding from a large core region. (PMID:30140054)
- LINC00921 reduces lung cancer radiosensitivity by destabilizing NUDT21 and driving aberrant MED23 alternative polyadenylation. (PMID:37999979)
- MED23 pathogenic variant: genomic-phenotypic analysis. (PMID:39144687)
- MED23 depletion induces premature senescence in NSCLC cells by interacting with BCLAF1 and then suppressing NUPR1 expression. (PMID:39366174)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | med23 | ENSDARG00000029157 |
| mus_musculus | Med23 | ENSMUSG00000019984 |
| rattus_norvegicus | Med23 | ENSRNOG00000013422 |
| drosophila_melanogaster | MED23 | FBGN0034795 |
| caenorhabditis_elegans | sur-2 | WBGENE00006349 |
Protein
Protein identifiers
Mediator of RNA polymerase II transcription subunit 23 — Q9ULK4 (reviewed: Q9ULK4)
Alternative names: Activator-recruited cofactor 130 kDa component, Cofactor required for Sp1 transcriptional activation subunit 3, Mediator complex subunit 23, Protein sur-2 homolog, Transcriptional coactivator CRSP130, Vitamin D3 receptor-interacting protein complex 130 kDa component
All UniProt accessions (2): Q9ULK4, Q5JWT2
UniProt curated annotations — full annotation on UniProt →
Function. Required for transcriptional activation subsequent to the assembly of the pre-initiation complex. 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 pre-initiation 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.
Subunit / interactions. Interacts with ELK1. 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 (when not methylated), CTNNB1, and GLI3. Interacts with the adenovirus E1A protein.
Subcellular location. Nucleus.
Disease relevance. Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy (MRT18) [MIM:614249] A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. The disease is caused by variants affecting the gene represented in this entry.
Similarity. Belongs to the Mediator complex subunit 23 family.
Isoforms (6)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9ULK4-1 | 1 | yes |
| Q9ULK4-2 | 2 | |
| Q9ULK4-3 | 3 | |
| Q9ULK4-4 | 4 | |
| Q9ULK4-5 | 5 | |
| Q9ULK4-6 | 6 |
RefSeq proteins (12): NP_001257450, NP_001257451, NP_001363446, NP_001363447, NP_001363448, NP_001363449, NP_001363450, NP_001363451, NP_001363452, NP_001363453, NP_004821, NP_057063 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR021629 | Mediator_Med23 | Family |
Pfam: PF11573
UniProt features (137 total): helix 87, strand 18, turn 13, sequence conflict 8, splice variant 7, chain 1, region of interest 1, sequence variant 1, compositionally biased region 1
Structure
Experimental structures (PDB)
13 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 6H02 | X-RAY DIFFRACTION | 2.8 |
| 9F6Y | ELECTRON MICROSCOPY | 2.98 |
| 9F76 | ELECTRON MICROSCOPY | 3.1 |
| 7EMF | ELECTRON MICROSCOPY | 3.5 |
| 8TRH | ELECTRON MICROSCOPY | 3.7 |
| 7ENA | ELECTRON MICROSCOPY | 4.07 |
| 7ENC | ELECTRON MICROSCOPY | 4.13 |
| 8GXS | ELECTRON MICROSCOPY | 4.16 |
| 7ENJ | ELECTRON MICROSCOPY | 4.4 |
| 8T9D | ELECTRON MICROSCOPY | 4.66 |
| 7LBM | ELECTRON MICROSCOPY | 4.8 |
| 8GXQ | ELECTRON MICROSCOPY | 5.04 |
| 8TQW | ELECTRON MICROSCOPY | 8.2 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9ULK4-F1 | 87.30 | 0.57 |
Antibody-complex structures (SAbDab): 1 — 6H02
Function
Pathways and Gene Ontology
Reactome pathways
20 pathways
| ID | Pathway |
|---|---|
| R-HSA-1989781 | PPARA activates gene expression |
| R-HSA-212436 | Generic Transcription Pathway |
| R-HSA-381340 | Transcriptional regulation of white adipocyte differentiation |
| R-HSA-9833110 | RSV-host interactions |
| R-HSA-9841922 | MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis |
| R-HSA-1266738 | Developmental Biology |
| R-HSA-1430728 | Metabolism |
| R-HSA-1643685 | Disease |
| R-HSA-212165 | Epigenetic regulation of gene expression |
| R-HSA-400206 | Regulation of lipid metabolism by PPARalpha |
| R-HSA-556833 | Metabolism of lipids |
| R-HSA-5663205 | Infectious disease |
| R-HSA-73857 | RNA Polymerase II Transcription |
| R-HSA-74160 | Gene expression (Transcription) |
| R-HSA-9818564 | Epigenetic regulation of gene expression by MLL3 and MLL4 complexes |
| R-HSA-9820952 | Respiratory Syncytial Virus Infection Pathway |
| R-HSA-9824446 | Viral Infection Pathways |
| R-HSA-9843745 | Adipogenesis |
| R-HSA-9851695 | Epigenetic regulation of adipogenesis genes by MLL3 and MLL4 complexes |
| R-HSA-9917777 | Epigenetic regulation by WDR5-containing histone modifying complexes |
MSigDB gene sets: 271 (showing top):
REACTOME_TRANSCRIPTIONAL_REGULATION_OF_WHITE_ADIPOCYTE_DIFFERENTIATION, GOBP_POSITIVE_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, GOBP_POSITIVE_REGULATION_OF_LYMPHOCYTE_MIGRATION, GOBP_POSITIVE_REGULATION_OF_CELLULAR_EXTRAVASATION, GOBP_REGULATION_OF_LEUKOCYTE_MIGRATION, GOBP_REGULATION_OF_MONONUCLEAR_CELL_MIGRATION, GOBP_CELLULAR_EXTRAVASATION, GOBP_LEUKOCYTE_MIGRATION, GOBP_POSITIVE_REGULATION_OF_LEUKOCYTE_MIGRATION, GOBP_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, GOBP_REGULATION_OF_CELLULAR_EXTRAVASATION, GOBP_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, GOBP_TRANSCRIPTION_INITIATION_AT_RNA_POLYMERASE_II_PROMOTER, GOBP_T_CELL_MIGRATION, GOBP_PROTEIN_DNA_COMPLEX_ORGANIZATION
GO Biological Process (8): regulation of DNA-templated transcription (GO:0006355), regulation of transcription by RNA polymerase II (GO:0006357), transcription initiation at RNA polymerase II promoter (GO:0006367), positive regulation of gene expression (GO:0010628), positive regulation of transcription elongation by RNA polymerase II (GO:0032968), RNA polymerase II preinitiation complex assembly (GO:0051123), positive regulation of transcription initiation by RNA polymerase II (GO:0060261), positive regulation of T cell extravasation (GO:2000409)
GO Molecular Function (2): transcription coactivator activity (GO:0003713), protein binding (GO:0005515)
GO Cellular Component (5): nucleus (GO:0005634), nucleoplasm (GO:0005654), transcription regulator complex (GO:0005667), mediator complex (GO:0016592), core mediator complex (GO:0070847)
Reactome top-level categories
Rollup of top-15 pathways:
| Category | Pathways |
|---|---|
| Gene expression (Transcription) | 2 |
| Regulation of lipid metabolism by PPARalpha | 1 |
| RNA Polymerase II Transcription | 1 |
| Adipogenesis | 1 |
| Respiratory Syncytial Virus Infection Pathway | 1 |
| Epigenetic regulation of adipogenesis genes by MLL3 and MLL4 complexes | 1 |
| Metabolism of lipids | 1 |
| Metabolism | 1 |
| Disease | 1 |
| Epigenetic regulation by WDR5-containing histone modifying complexes | 1 |
| Viral Infection Pathways | 1 |
| Infectious disease | 1 |
| Developmental Biology | 1 |
| Epigenetic regulation of gene expression by MLL3 and MLL4 complexes | 1 |
| Epigenetic regulation of gene expression | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| regulation of gene expression | 2 |
| transcription by RNA polymerase II | 2 |
| positive regulation of transcription by RNA polymerase II | 2 |
| transcription initiation at RNA polymerase II promoter | 2 |
| DNA-templated transcription | 1 |
| regulation of RNA biosynthetic process | 1 |
| regulation of DNA-templated transcription | 1 |
| DNA-templated transcription initiation | 1 |
| gene expression | 1 |
| positive regulation of macromolecule biosynthetic process | 1 |
| transcription elongation by RNA polymerase II | 1 |
| positive regulation of DNA-templated transcription, elongation | 1 |
| regulation of transcription elongation by RNA polymerase II | 1 |
| transcription preinitiation complex assembly | 1 |
| regulation of transcription initiation by RNA polymerase II | 1 |
| positive regulation of DNA-templated transcription initiation | 1 |
| positive regulation of cellular extravasation | 1 |
| T cell extravasation | 1 |
| positive regulation of T cell migration | 1 |
| regulation of T cell extravasation | 1 |
| transcription coregulator activity | 1 |
| positive regulation of DNA-templated transcription | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
| protein-containing complex | 1 |
| core mediator complex | 1 |
| nuclear protein-containing complex | 1 |
| RNA polymerase II transcription regulator complex | 1 |
Protein interactions and networks
STRING
1594 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MED23 | MED15 | Q96RN5 | 969 |
| MED23 | MED14 | O60244 | 964 |
| MED23 | MED16 | Q9Y2X0 | 961 |
| MED23 | MED12 | Q93074 | 945 |
| MED23 | MED4 | Q9NPJ6 | 941 |
| MED23 | MED13 | Q9UHV7 | 888 |
| MED23 | ELK1 | P19419 | 870 |
| MED23 | MED22 | Q15528 | 851 |
| MED23 | MED1 | Q15648 | 850 |
| MED23 | MED6 | O75586 | 832 |
| MED23 | IRF7 | Q92985 | 822 |
| MED23 | MED17 | Q9NVC6 | 817 |
| MED23 | MED26 | O95402 | 808 |
| MED23 | CDK8 | P49336 | 805 |
| MED23 | MED21 | Q13503 | 787 |
IntAct
140 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MED10 | MED19 | psi-mi:“MI:0914”(association) | 0.910 |
| MED10 | MED19 | psi-mi:“MI:0915”(physical association) | 0.910 |
| CDK8 | MED14 | psi-mi:“MI:0914”(association) | 0.900 |
| MED4 | MED19 | psi-mi:“MI:0914”(association) | 0.900 |
| MED29 | MED19 | psi-mi:“MI:0914”(association) | 0.890 |
| MED21 | MED19 | psi-mi:“MI:0914”(association) | 0.880 |
| CDK8 | MED19 | psi-mi:“MI:2364”(proximity) | 0.850 |
| CDK8 | MED19 | psi-mi:“MI:0914”(association) | 0.850 |
| MED20 | MED19 | psi-mi:“MI:0914”(association) | 0.840 |
| MED31 | MED19 | psi-mi:“MI:0914”(association) | 0.840 |
| MED7 | MED19 | psi-mi:“MI:0914”(association) | 0.840 |
| MED11 | MED19 | psi-mi:“MI:0914”(association) | 0.840 |
| MED18 | MED19 | psi-mi:“MI:0914”(association) | 0.840 |
BioGRID (421): MED23 (Reconstituted Complex), MED23 (Phenotypic Suppression), MED23 (Affinity Capture-MS), MED23 (Affinity Capture-MS), MED23 (Affinity Capture-MS), MED23 (Affinity Capture-MS), MED23 (Affinity Capture-MS), MED23 (Affinity Capture-MS), MED23 (Affinity Capture-MS), MED23 (Affinity Capture-MS), MED23 (Affinity Capture-MS), MED23 (Affinity Capture-Western), MED10 (Co-fractionation), MED14 (Co-fractionation), MED22 (Co-fractionation)
ESM2 similar proteins: A1Z8X3, A1ZAK1, G5ED39, H2QII6, O01510, O08662, O94668, P42173, P42286, P49792, Q00416, Q03280, Q0IEK6, Q10573, Q10669, Q13535, Q18508, Q18892, Q196Z9, Q29L39, Q2U639, Q5EAK6, Q5EB59, Q5RIW8, Q5ZKU4, Q61CW2, Q61WP7, Q6CP76, Q6CT34, Q6V3W0, Q70PP2, Q751J3, Q756G2, Q75DV4, Q80YQ2, Q8IRS9, Q8IRT0, Q9DE14, Q9GNN7, Q9H0H0
Diamond homologs: Q16HH9, Q5EB59, Q5RIW8, Q6P423, Q80YQ2, Q9ULK4, Q9W1X7
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| MED23 | “form complex” | “Core mediator complex” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 92 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Respiratory Syncytial Virus Infection Pathway | 27 | 74.9× | 1e-43 |
| RSV-host interactions | 27 | 59.5× | 9e-41 |
| Adipogenesis | 27 | 59.5× | 9e-41 |
| Regulation of lipid metabolism by PPARalpha | 27 | 53.6× | 2e-39 |
| Transcriptional regulation of white adipocyte differentiation | 27 | 49.4× | 2e-38 |
| Epigenetic regulation of adipogenesis genes by MLL3 and MLL4 complexes | 15 | 45.5× | 4e-20 |
| Epigenetic regulation of gene expression by MLL3 and MLL4 complexes | 15 | 41.6× | 2e-19 |
| PPARA activates gene expression | 27 | 35.9× | 3e-34 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| positive regulation of transcription initiation by RNA polymerase II | 25 | 79.9× | 8e-40 |
| positive regulation of transcription elongation by RNA polymerase II | 22 | 77.9× | 7e-35 |
| RNA polymerase II preinitiation complex assembly | 24 | 76.8× | 7e-38 |
| somatic stem cell population maintenance | 10 | 29.2× | 3e-10 |
| transcription initiation at RNA polymerase II promoter | 6 | 26.4× | 1e-05 |
| protein ubiquitination | 12 | 5.8× | 1e-04 |
Disease & clinical
Cancer significance
From intOGen — cancer-driver classification: loss-of-function (tumor-suppressor-like) across 1 cancer types — BRCA.
Clinical variants and AI predictions
ClinVar
347 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 16 |
| Likely pathogenic | 15 |
| Uncertain significance | 187 |
| Likely benign | 71 |
| Benign | 5 |
Top pathogenic / likely-pathogenic (30)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1032717 | NM_004830.4(MED23):c.2832dup (p.Val945fs) | Pathogenic |
| 1075875 | NM_000045.4(ARG1):c.819del (p.Asp274fs) | Pathogenic |
| 1076486 | NM_000045.4(ARG1):c.93del (p.Arg32fs) | Pathogenic |
| 1327487 | NM_004830.4(MED23):c.506A>G (p.Tyr169Cys) | Pathogenic |
| 1327489 | NM_004830.4(MED23):c.382G>A (p.Gly128Arg) | Pathogenic |
| 1327491 | NM_004830.4(MED23):c.1919A>G (p.Gln640Arg) | Pathogenic |
| 143192 | NM_004830.4(MED23):c.3638A>G (p.His1213Arg) | Pathogenic |
| 2276892 | NM_004830.4(MED23):c.815dup (p.Tyr272Ter) | Pathogenic |
| 2980910 | NM_000045.4(ARG1):c.493dup (p.Val165fs) | Pathogenic |
| 423225 | NM_004830.4(MED23):c.597+1G>T | Pathogenic |
| 437437 | NM_004830.4(MED23):c.670C>G (p.Arg224Gly) | Pathogenic |
| 4813535 | NM_004830.4(MED23):c.3983G>C (p.Arg1328Pro) | Pathogenic |
| 557931 | NM_000045.4(ARG1):c.129del (p.Glu44fs) | Pathogenic |
| 657467 | NM_000045.4(ARG1):c.425del (p.Gly142fs) | Pathogenic |
| 852613 | NM_000045.4(ARG1):c.464dup (p.Ile156fs) | Pathogenic |
| 871322 | NM_000045.4(ARG1):c.666-2A>G | Pathogenic |
| 1012785 | NM_004830.4(MED23):c.1387A>T (p.Arg463Ter) | Likely pathogenic |
| 1029420 | NM_004830.4(MED23):c.1181C>T (p.Pro394Leu) | Likely pathogenic |
| 1215415 | NM_004830.4(MED23):c.2750G>A (p.Trp917Ter) | Likely pathogenic |
| 1327674 | NM_004830.4(MED23):c.3508_3511del (p.Val1171fs) | Likely pathogenic |
| 1726533 | NM_000045.4(ARG1):c.637G>T (p.Glu213Ter) | Likely pathogenic |
| 1726742 | NM_000045.4(ARG1):c.432_448del (p.Val145fs) | Likely pathogenic |
| 191215 | NM_004830.4(MED23):c.479T>C (p.Leu160Pro) | Likely pathogenic |
| 235773 | NM_004830.4(MED23):c.1932-1G>A | Likely pathogenic |
| 30442 | NM_004830.4(MED23):c.1832G>A (p.Arg611Gln) | Likely pathogenic |
| 3382460 | NM_004830.4(MED23):c.3145del (p.Tyr1048_Leu1049insTer) | Likely pathogenic |
| 432703 | NM_004830.4(MED23):c.599T>G (p.Leu200Ter) | Likely pathogenic |
| 4685525 | NM_000045.4(ARG1):c.545T>G (p.Val182Gly) | Likely pathogenic |
| 559910 | NM_004830.4(MED23):c.2368_2371del (p.Leu790fs) | Likely pathogenic |
| 978881 | NM_004830.4(MED23):c.953del (p.Glu318fs) | Likely pathogenic |
SpliceAI
6028 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:131579252:G:GT | donor_gain | 1.0000 |
| 6:131581217:A:G | acceptor_gain | 1.0000 |
| 6:131581218:G:GG | acceptor_gain | 1.0000 |
| 6:131581375:A:T | donor_gain | 1.0000 |
| 6:131582716:G:GG | donor_gain | 1.0000 |
| 6:131583353:A:G | acceptor_gain | 1.0000 |
| 6:131583740:A:AG | acceptor_gain | 1.0000 |
| 6:131583741:G:GG | acceptor_gain | 1.0000 |
| 6:131587843:CTAC:C | acceptor_gain | 1.0000 |
| 6:131589461:TTA:T | donor_loss | 1.0000 |
| 6:131589462:TA:T | donor_loss | 1.0000 |
| 6:131589463:A:AC | donor_gain | 1.0000 |
| 6:131589463:AC:A | donor_loss | 1.0000 |
| 6:131589464:C:CT | donor_gain | 1.0000 |
| 6:131589464:CT:C | donor_gain | 1.0000 |
| 6:131589464:CTT:C | donor_gain | 1.0000 |
| 6:131589464:CTTG:C | donor_gain | 1.0000 |
| 6:131589592:CCAAT:C | acceptor_gain | 1.0000 |
| 6:131589593:CAAT:C | acceptor_gain | 1.0000 |
| 6:131589593:CAATC:C | acceptor_gain | 1.0000 |
| 6:131589594:AATCT:A | acceptor_loss | 1.0000 |
| 6:131589597:C:CC | acceptor_gain | 1.0000 |
| 6:131592386:A:AC | donor_gain | 1.0000 |
| 6:131592387:C:CC | donor_gain | 1.0000 |
| 6:131592461:C:CC | acceptor_gain | 1.0000 |
| 6:131592468:C:CT | acceptor_gain | 1.0000 |
| 6:131592469:G:T | acceptor_gain | 1.0000 |
| 6:131594158:T:A | donor_gain | 1.0000 |
| 6:131594198:TTAGA:T | donor_gain | 1.0000 |
| 6:131594199:TAGAC:T | donor_gain | 1.0000 |
AlphaMissense
9063 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:131587793:G:C | F1331L | 1.000 |
| 6:131587793:G:T | F1331L | 1.000 |
| 6:131587795:A:G | F1331L | 1.000 |
| 6:131587800:A:G | L1329P | 1.000 |
| 6:131589484:C:T | G1307D | 1.000 |
| 6:131589496:T:C | Y1303C | 1.000 |
| 6:131589497:A:G | Y1303H | 1.000 |
| 6:131589498:C:A | K1302N | 1.000 |
| 6:131589498:C:G | K1302N | 1.000 |
| 6:131589500:T:C | K1302E | 1.000 |
| 6:131589517:T:A | D1296V | 1.000 |
| 6:131590377:A:G | L1251P | 1.000 |
| 6:131591353:A:G | W1216R | 1.000 |
| 6:131591353:A:T | W1216R | 1.000 |
| 6:131592392:A:G | L1156P | 1.000 |
| 6:131593113:A:C | F1097L | 1.000 |
| 6:131593113:A:T | F1097L | 1.000 |
| 6:131593115:A:G | F1097L | 1.000 |
| 6:131593122:G:C | F1094L | 1.000 |
| 6:131593122:G:T | F1094L | 1.000 |
| 6:131593124:A:G | F1094L | 1.000 |
| 6:131593125:T:A | R1093S | 1.000 |
| 6:131593125:T:G | R1093S | 1.000 |
| 6:131593126:C:G | R1093T | 1.000 |
| 6:131593130:A:G | W1092R | 1.000 |
| 6:131593130:A:T | W1092R | 1.000 |
| 6:131594254:A:G | L1026P | 1.000 |
| 6:131594305:A:G | L1009P | 1.000 |
| 6:131594317:A:G | L1005P | 1.000 |
| 6:131595951:A:C | F997L | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000094228 (6:131593135 CA>C), RS1000157171 (6:131574975 A>G), RS1000166403 (6:131610000 G>A), RS1000195393 (6:131598065 G>A), RS1000231540 (6:131621697 A>G), RS1000331080 (6:131614131 G>T), RS1000421608 (6:131591258 A>G,T), RS1000451954 (6:131584017 G>T), RS1000488475 (6:131607185 G>A,C), RS1000525126 (6:131589401 T>C), RS1000526551 (6:131593280 C>T), RS1000561522 (6:131587416 C>T), RS1000582041 (6:131621360 C>G), RS1000585240 (6:131591043 C>T), RS1000747067 (6:131628291 C>G,T)
Disease associations
OMIM: gene MIM:605042 | disease phenotypes: MIM:207800, MIM:614249, MIM:617667
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| intellectual disability, autosomal recessive 18 | Strong | Autosomal recessive |
| syndromic intellectual disability | Moderate | Autosomal recessive |
| autosomal recessive non-syndromic intellectual disability | Supportive | Autosomal recessive |
ClinGen Gene-Disease Validity (1)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| syndromic intellectual disability | Moderate | AR |
Mondo (7): arginase deficiency (MONDO:0008814), intellectual disability, autosomal recessive 18 (MONDO:0013651), neurodevelopmental disorder (MONDO:0700092), Fraser syndrome 3 (MONDO:0054739), intellectual disability (MONDO:0001071), syndromic intellectual disability (MONDO:0000508), autosomal recessive non-syndromic intellectual disability (MONDO:0019502)
Orphanet (3): Argininemia (Orphanet:90), Autosomal recessive non-syndromic intellectual disability (Orphanet:88616), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)
HPO phenotypes
26 total (26 of 26 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000252 | Microcephaly |
| HP:0000737 | Irritability |
| HP:0000750 | Delayed speech and language development |
| HP:0001249 | Intellectual disability |
| HP:0001257 | Spasticity |
| HP:0001263 | Global developmental delay |
| HP:0001266 | Choreoathetosis |
| HP:0001288 | Gait disturbance |
| HP:0001332 | Dystonia |
| HP:0001344 | Absent speech |
| HP:0001629 | Ventricular septal defect |
| HP:0001631 | Atrial septal defect |
| HP:0002187 | Profound intellectual disability |
| HP:0002353 | EEG abnormality |
| HP:0002360 | Sleep disturbance |
| HP:0002474 | Expressive language delay |
| HP:0003577 | Congenital onset |
| HP:0003593 | Infantile onset |
| HP:0007030 | Nonprogressive encephalopathy |
| HP:0008936 | Axial hypotonia |
| HP:0011463 | Childhood onset |
| HP:0011968 | Feeding difficulties |
| HP:0012110 | Hypoplasia of the pons |
| HP:0033725 | Thin corpus callosum |
| HP:0100021 | Cerebral palsy |
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002623_1 | L-arginine levels | 4.000000e-19 |
| GCST006867_54 | Type 2 diabetes | 2.000000e-08 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006524 | L-arginine measurement |
MeSH disease descriptors (3)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D020162 | Hyperargininemia | C10.228.140.163.100.937.500; C16.320.565.100.940.500; C16.320.565.189.937.500; C18.452.132.100.937.437; C18.452.648.100.940.437; C18.452.648.189.937.437 |
| D008607 | Intellectual Disability | C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539 |
| D065886 | Neurodevelopmental Disorders | F03.625 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (2): CHEMBL2111426 (PROTEIN-PROTEIN INTERACTION), CHEMBL4146 (SINGLE PROTEIN)
Molecules with ChEMBL bioactivity
1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 13,102 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).
| Molecule | Name | Phase | Patents |
|---|---|---|---|
| CHEMBL189963 | PALBOCICLIB | 4 | 13,102 |
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs2781659 | ARG1, MED23 | 3 | 3.00 | 1 | selective beta-2-adrenoreceptor agonists |
Binding affinities (BindingDB)
1 measured of 1 human assays (1 total across all organisms); most potent 1 below. Values come from heterogeneous assays and are not directly comparable.
| Ligand | Measure | Value |
|---|---|---|
| CHEMBL2170196 | KD | 1800 nM |
ChEMBL bioactivities
10 potent at pChembl≥5 of 10 total, top 10 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 6.23 | Kd | 590 | nM | CHEMBL1077445 |
| 6.21 | Kd | 620 | nM | CHEMBL1077474 |
| 6.00 | Kd | 1000 | nM | CHEMBL1077454 |
| 5.75 | Kd | 1800 | nM | WRENCHNOLOL |
| 5.52 | Kd | 2998 | nM | PALBOCICLIB |
| 5.33 | Kd | 4690 | nM | CHEMBL5653589 |
| 5.33 | ED50 | 4728 | nM | CHEMBL5653589 |
| 5.31 | Kd | 4854 | nM | CHEMBL3752910 |
| 5.31 | ED50 | 4894 | nM | CHEMBL3752910 |
| 5.23 | Kd | 5900 | nM | CHEMBL1077475 |
PubChem BioAssay actives
7 with measured affinity, of 19 total; 7 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 5-[[(3S,5R)-3-(2-hydroxyethyl)-3-(2-methylpropyl)-2-[[4-(trifluoromethyl)phenyl]methyl]-1,2-oxazolidin-5-yl]methylcarbamothioylamino]-2-(3-hydroxy-6-oxoxanthen-9-yl)benzoic acid | 469608: Inhibition of ESX-Med23 interaction in human BT474 cells assessed as down regulation of ErbB2 expression by Western blotting | kd | 0.5900 | uM |
| 5-[[(3S,5R)-3-(2-hydroxyethyl)-3-(2-methylpropyl)-2-[(4-phenylphenyl)methyl]-1,2-oxazolidin-5-yl]methylcarbamothioylamino]-2-(3-hydroxy-6-oxoxanthen-9-yl)benzoic acid | 469608: Inhibition of ESX-Med23 interaction in human BT474 cells assessed as down regulation of ErbB2 expression by Western blotting | kd | 0.6200 | uM |
| 5-[[(3S,5R)-3-(2-hydroxyethyl)-3-(2-methylpropyl)-2-(naphthalen-2-ylmethyl)-1,2-oxazolidin-5-yl]methylcarbamothioylamino]-2-(3-hydroxy-6-oxoxanthen-9-yl)benzoic acid | 469608: Inhibition of ESX-Med23 interaction in human BT474 cells assessed as down regulation of ErbB2 expression by Western blotting | kd | 1.0000 | uM |
| 4-[1-(adamantane-1-carbonyl)piperidin-4-yl]-N-(5-aminopentyl)-N-[2-hydroxy-3-[1-(4-methylphenyl)sulfonylindol-4-yl]oxypropyl]piperidine-1-carboxamide | 700859: Binding affinity to Sur2 | kd | 1.8000 | uM |
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2148741: Binding affinity to human MED23 incubated for 45 mins by Kinobead based pull down assay | kd | 4.6896 | uM |
| 4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2148741: Binding affinity to human MED23 incubated for 45 mins by Kinobead based pull down assay | kd | 4.8541 | uM |
| 5-[[(3S,5R)-2-benzyl-3-(2-hydroxyethyl)-3-(2-methylpropyl)-1,2-oxazolidin-5-yl]methylcarbamothioylamino]-2-(3-hydroxy-6-oxoxanthen-9-yl)benzoic acid | 469608: Inhibition of ESX-Med23 interaction in human BT474 cells assessed as down regulation of ErbB2 expression by Western blotting | kd | 5.9000 | uM |
CTD chemical–gene interactions
31 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Formaldehyde | decreases expression, increases expression | 2 |
| Valproic Acid | affects expression, decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | affects cotreatment, increases expression, increases abundance | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| methacrylaldehyde | affects cotreatment, increases expression, increases abundance | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| jinfukang | decreases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Zoledronic Acid | affects cotreatment, increases expression | 1 |
| Fluvastatin | affects cotreatment, increases expression | 1 |
| Acrolein | affects cotreatment, increases expression, increases abundance | 1 |
| Air Pollutants | affects cotreatment, increases abundance, increases expression | 1 |
| Cisplatin | increases expression | 1 |
| Diethylhexyl Phthalate | decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Estradiol | affects expression | 1 |
| Ethyl Methanesulfonate | increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Ozone | affects cotreatment, increases expression, increases abundance | 1 |
| Plant Extracts | increases expression, affects cotreatment | 1 |
| Testosterone | decreases expression | 1 |
| Thiram | increases expression | 1 |
| Urethane | increases expression | 1 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | increases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
ChEMBL screening assays
9 unique, capped per target: 9 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL1099983 | Binding | Inhibition of ESX-Med23 interaction in human BT474 cells assessed as down regulation of ErbB2 expression up to 50 uM by Western blotting | Inhibition of ErbB2(Her2) expression with small molecule transcription factor mimics. — Bioorg Med Chem Lett |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D9K4 | Ubigene HEK293 MED23 KO | Transformed cell line | Female |
Clinical trials (associated diseases)
288 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT04586348 | PHASE4 | UNKNOWN | Prenatal Iodine Supplementation and Early Childhood Neurodevelopment |
| NCT04873115 | PHASE4 | UNKNOWN | Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties, |
| NCT05657860 | PHASE4 | COMPLETED | Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome |
| NCT05744479 | PHASE4 | RECRUITING | Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability |
| NCT06107829 | PHASE4 | WITHDRAWN | Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities |
| NCT06997198 | PHASE4 | NOT_YET_RECRUITING | Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities |
| NCT03921541 | PHASE3 | COMPLETED | Efficacy and Safety of Pegzilarginase in Patients With Arginase 1 Deficiency |
| NCT05676853 | PHASE3 | TERMINATED | A Study of Safety of Weekly Subcutaneous Pegzilarginase in Subjects With Arginase 1 Deficiency |
| NCT02559102 | PHASE3 | COMPLETED | Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants |
| NCT02757079 | PHASE3 | COMPLETED | Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders |
| NCT06915480 | PHASE3 | RECRUITING | Reducing Missed Appointments |
| NCT07377032 | PHASE3 | RECRUITING | TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders |
| NCT02270736 | PHASE3 | COMPLETED | Clinical Study to Investigate the Efficacy and Safety of NT 201 Compared to Placebo in the Treatment of Chronic Troublesome Drooling Associated With Neurological Disorders and/or Intellectual Disability |
| NCT03378531 | PHASE2 | COMPLETED | A Study of AEB1102 (Pegzilarginase) in Patients With Arginase I Deficiency |
| NCT02909959 | PHASE2 | COMPLETED | Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder |
| NCT06081348 | PHASE2 | RECRUITING | Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders |
| NCT06352372 | PHASE2 | COMPLETED | Safety and Efficacy of tPBM for Epileptiform Activity in Autism |
| NCT02304302 | PHASE2 | COMPLETED | Down Syndrome Memantine Follow-up Study |
| NCT03862950 | PHASE2 | COMPLETED | A Trial of Metformin in Individuals With Fragile X Syndrome (Met) |
| NCT04529226 | PHASE2 | UNKNOWN | Study to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis |
| NCT04821856 | PHASE2 | COMPLETED | Evaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability |
| NCT00503191 | PHASE1 | COMPLETED | NeuroModulation Technique Treatment of Autism |
| NCT04475848 | PHASE1 | COMPLETED | A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants |
| NCT06300398 | PHASE1 | COMPLETED | IAMA-6 Oral Dose Study in Healthy Adults |
| NCT05273320 | PHASE1 | COMPLETED | Clinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities |
| NCT05301361 | PHASE1 | ENROLLING_BY_INVITATION | Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities |
| NCT06016764 | PHASE1 | COMPLETED | Use of MRI and cTBS for Catatonia in Autism |
| NCT06586827 | PHASE1 | COMPLETED | Impact of Competency-Based Training and Technical Assistance Employment Outcomes of Individuals With ID/DD |
| NCT07531940 | PHASE1 | NOT_YET_RECRUITING | Escalating Doses of Memantine in Down Syndrome (MEDS-123) |
| NCT02488044 | PHASE1/PHASE2 | COMPLETED | A Phase 1/2 Study of AEB1102 in Patients With Arginase I Deficiency |
| NCT01421888 | Not specified | TERMINATED | The NIH UNI Study: Urea Cycle Disorders, Nutrition and Immunity |
| NCT03655223 | Not specified | ENROLLING_BY_INVITATION | Early Check: Expanded Screening in Newborns |
| NCT04612764 | Not specified | ACTIVE_NOT_RECRUITING | Liver Disease in Urea Cycle Disorders |
| NCT04908319 | Not specified | RECRUITING | Hepatic Histopathology in Urea Cycle Disorders |
| NCT05412160 | Not specified | COMPLETED | Improving Quality of Life and Daily Life Activities With Bioarginine in Patients With COPD |
| NCT05687474 | Not specified | COMPLETED | Baby Detect : Genomic Newborn Screening |
| NCT05910151 | Not specified | UNKNOWN | Selective Screening of Children for Hereditary Metabolic Diseases by Tandem Mass Spectrometry in Kazakhstan |
| NCT01783041 | PHASE2/PHASE3 | COMPLETED | Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants |
| NCT05767385 | PHASE2/PHASE3 | RECRUITING | Fetal Cerebrovascular Autoregulation in Congenital Heart Disease and Association With Neonatal Neurobehavior |
| NCT05675098 | EARLY_PHASE1 | NOT_YET_RECRUITING | Central Nervous System Stimulants and Physical Function in Children With Cerebral Palsy |
Related Atlas pages
- Associated diseases: intellectual disability, autosomal recessive 18, syndromic intellectual disability, autosomal recessive non-syndromic intellectual disability
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): arginase deficiency, autosomal recessive non-syndromic intellectual disability, Fraser syndrome 3, intellectual disability, autosomal recessive 18, syndromic intellectual disability