MED18
gene geneOn this page
Also known as FLJ20045p28bSRB5
Summary
MED18 (mediator complex subunit 18, HGNC:25944) is a protein-coding gene on chromosome 1p35.3, encoding Mediator of RNA polymerase II transcription subunit 18 (Q9BUE0). Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. It is a selective cancer dependency (DepMap: 89.4% of cell lines).
MED18 is a component of the Mediator complex, which is a coactivator for DNA-binding factors that activate transcription via RNA polymerase II (Sato et al., 2003 [PubMed 12584197]).
Source: NCBI Gene 54797 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 33 total
- Cancer dependency (DepMap): dependent in 89.4% of screened cell lines
- MANE Select transcript:
NM_017638
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25944 |
| Approved symbol | MED18 |
| Name | mediator complex subunit 18 |
| Location | 1p35.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ20045, p28b, SRB5 |
| Ensembl gene | ENSG00000130772 |
| Ensembl biotype | protein_coding |
| OMIM | 612384 |
| Entrez | 54797 |
Gene structure
Transcript identifiers
Ensembl transcripts: 5 — 3 protein_coding_CDS_not_defined, 2 protein_coding
ENST00000373842, ENST00000398997, ENST00000474683, ENST00000475655, ENST00000479574
RefSeq mRNA: 2 — MANE Select: NM_017638
NM_001127350, NM_017638
CCDS: CCDS322
Canonical transcript exons
ENST00000373842 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001207949 | 28329040 | 28329180 |
| ENSE00001866153 | 28334417 | 28335965 |
| ENSE00003557417 | 28330597 | 28330735 |
Expression profiles
Bgee: expression breadth ubiquitous, 134 present calls, max score 87.11.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.6066 / max 94.0650, expressed in 1783 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 1789 | 10.6066 | 1783 |
Top tissues by expression
134 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| mucosa of transverse colon | UBERON:0004991 | 87.11 | gold quality |
| islet of Langerhans | UBERON:0000006 | 86.77 | gold quality |
| stromal cell of endometrium | CL:0002255 | 85.41 | gold quality |
| lymph node | UBERON:0000029 | 84.16 | gold quality |
| blood | UBERON:0000178 | 84.00 | gold quality |
| rectum | UBERON:0001052 | 83.87 | gold quality |
| granulocyte | CL:0000094 | 82.84 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 82.72 | gold quality |
| duodenum | UBERON:0002114 | 82.64 | gold quality |
| muscle tissue | UBERON:0002385 | 82.43 | gold quality |
| vermiform appendix | UBERON:0001154 | 82.00 | gold quality |
| liver | UBERON:0002107 | 81.90 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 81.88 | gold quality |
| leukocyte | CL:0000738 | 81.87 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 81.75 | gold quality |
| monocyte | CL:0000576 | 81.56 | gold quality |
| muscle of leg | UBERON:0001383 | 81.52 | gold quality |
| gastrocnemius | UBERON:0001388 | 81.32 | gold quality |
| placenta | UBERON:0001987 | 81.14 | gold quality |
| transverse colon | UBERON:0001157 | 80.83 | gold quality |
| tonsil | UBERON:0002372 | 80.77 | gold quality |
| right adrenal gland | UBERON:0001233 | 80.73 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 80.65 | gold quality |
| right lobe of liver | UBERON:0001114 | 80.58 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 80.32 | gold quality |
| esophagus mucosa | UBERON:0002469 | 80.12 | gold quality |
| small intestine | UBERON:0002108 | 80.04 | gold quality |
| pancreas | UBERON:0001264 | 79.87 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 79.72 | gold quality |
| bone marrow | UBERON:0002371 | 79.53 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 1.65 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
49 targeting MED18, 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-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-1229-3P | 99.97 | 66.49 | 906 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
| HSA-MIR-221-5P | 99.86 | 65.45 | 1052 |
| HSA-MIR-8073 | 99.86 | 65.21 | 1118 |
| HSA-MIR-6515-3P | 99.82 | 68.19 | 1933 |
| HSA-MIR-556-3P | 99.74 | 68.75 | 1203 |
| HSA-MIR-6745 | 99.74 | 65.33 | 1321 |
| HSA-MIR-6134 | 99.63 | 65.68 | 1537 |
| HSA-MIR-766-3P | 99.47 | 65.24 | 1811 |
| HSA-MIR-504-3P | 99.30 | 67.18 | 1745 |
| HSA-MIR-4784 | 99.15 | 67.41 | 1733 |
| HSA-MIR-661 | 99.09 | 65.94 | 2062 |
| HSA-MIR-4695-5P | 99.06 | 64.87 | 1151 |
| HSA-MIR-3926 | 98.95 | 69.26 | 1438 |
| HSA-MIR-3150B-3P | 98.81 | 67.21 | 1728 |
| HSA-MIR-7113-3P | 98.75 | 65.71 | 1120 |
| HSA-MIR-4763-5P | 98.75 | 63.89 | 854 |
| HSA-MIR-548S | 98.50 | 67.17 | 1213 |
| HSA-MIR-6878-5P | 98.49 | 67.91 | 2142 |
| HSA-MIR-5089-5P | 98.45 | 66.06 | 1388 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 89.4% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 2)
- A novel transcriptional repression mechanism of hMED18 mediated by hCDK8 and further a novel positive role of free CDK/cyclin module in transcriptional activation is described. (PMID:24840924)
- Long non-coding RNA SNHG3 promotes progression of gastric cancer by regulating neighboring MED18 gene methylation. (PMID:31534128)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | med18 | ENSDARG00000041237 |
| mus_musculus | Med18 | ENSMUSG00000066042 |
| rattus_norvegicus | Med18 | ENSRNOG00000067073 |
| drosophila_melanogaster | MED18 | FBGN0026873 |
| caenorhabditis_elegans | mdt-18 | WBGENE00007018 |
Protein
Protein identifiers
Mediator of RNA polymerase II transcription subunit 18 — Q9BUE0 (reviewed: Q9BUE0)
Alternative names: Mediator complex subunit 18, p28b
All UniProt accessions (1): Q9BUE0
UniProt curated annotations — full annotation on UniProt →
Function. Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors.
Subunit / interactions. 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.
Subcellular location. Nucleus.
Similarity. Belongs to the Mediator complex subunit 18 family.
RefSeq proteins (2): NP_001120822, NP_060108* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR019095 | Mediator_Med18 | Family |
Pfam: PF09637
UniProt features (17 total): strand 10, helix 3, chain 1, modified residue 1, turn 1, sequence conflict 1
Structure
Experimental structures (PDB)
11 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 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 |
| 7NVR | ELECTRON MICROSCOPY | 4.5 |
| 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-Q9BUE0-F1 | 90.12 | 0.78 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (1): 66
Function
Pathways and Gene Ontology
Reactome pathways
12 pathways
| ID | Pathway |
|---|---|
| R-HSA-1989781 | PPARA activates gene expression |
| R-HSA-381340 | Transcriptional regulation of white adipocyte differentiation |
| R-HSA-9833110 | RSV-host interactions |
| R-HSA-1266738 | Developmental Biology |
| R-HSA-1430728 | Metabolism |
| R-HSA-1643685 | Disease |
| R-HSA-400206 | Regulation of lipid metabolism by PPARalpha |
| R-HSA-556833 | Metabolism of lipids |
| R-HSA-5663205 | Infectious disease |
| R-HSA-9820952 | Respiratory Syncytial Virus Infection Pathway |
| R-HSA-9824446 | Viral Infection Pathways |
| R-HSA-9843745 | Adipogenesis |
MSigDB gene sets: 119 (showing top):
REACTOME_TRANSCRIPTIONAL_REGULATION_OF_WHITE_ADIPOCYTE_DIFFERENTIATION, GOBP_POSITIVE_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, MODULE_205, GOBP_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, TAKEDA_TARGETS_OF_NUP98_HOXA9_FUSION_10D_UP, GOBP_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, GOBP_TRANSCRIPTION_INITIATION_AT_RNA_POLYMERASE_II_PROMOTER, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, GOBP_PROTEIN_DNA_COMPLEX_ORGANIZATION, GOBP_POSITIVE_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_ELONGATION, GOBP_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_ELONGATION, PARENT_MTOR_SIGNALING_UP, GOCC_RNA_POLYMERASE_II_TRANSCRIPTION_REGULATOR_COMPLEX, GOCC_TRANSCRIPTION_REGULATOR_COMPLEX, MARSON_BOUND_BY_E2F4_UNSTIMULATED
GO Biological Process (4): 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), regulation of transcription by RNA polymerase II (GO:0006357)
GO Molecular Function (2): transcription coregulator activity (GO:0003712), protein binding (GO:0005515)
GO Cellular Component (4): nucleus (GO:0005634), nucleoplasm (GO:0005654), mediator complex (GO:0016592), core mediator complex (GO:0070847)
Reactome top-level categories
Rollup of top-9 pathways:
| Category | Pathways |
|---|---|
| Regulation of lipid metabolism by PPARalpha | 1 |
| Adipogenesis | 1 |
| Respiratory Syncytial Virus Infection Pathway | 1 |
| Metabolism of lipids | 1 |
| Metabolism | 1 |
| Disease | 1 |
| Viral Infection Pathways | 1 |
| Infectious disease | 1 |
| Developmental Biology | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| positive regulation of transcription by RNA polymerase II | 2 |
| transcription initiation at RNA polymerase II promoter | 2 |
| 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 |
| regulation of DNA-templated transcription | 1 |
| transcription by RNA polymerase II | 1 |
| transcription regulator activity | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
| core mediator complex | 1 |
| nuclear protein-containing complex | 1 |
| RNA polymerase II transcription regulator complex | 1 |
Protein interactions and networks
STRING
1064 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MED18 | MED20 | Q9H944 | 999 |
| MED18 | MED11 | Q9P086 | 998 |
| MED18 | MED8 | Q96G25 | 996 |
| MED18 | MED6 | O75586 | 995 |
| MED18 | MED22 | Q15528 | 991 |
| MED18 | MED29 | Q9NX70 | 979 |
| MED18 | MED19 | A0JLT2 | 977 |
| MED18 | MED10 | Q9BTT4 | 959 |
| MED18 | MED17 | Q9NVC6 | 950 |
| MED18 | MED30 | Q96HR3 | 931 |
| MED18 | MED14 | O60244 | 931 |
| MED18 | CDK8 | P49336 | 913 |
| MED18 | MED16 | Q9Y2X0 | 888 |
| MED18 | MED15 | Q96RN5 | 884 |
| MED18 | MED21 | Q13503 | 873 |
IntAct
150 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MED20 | MED18 | psi-mi:“MI:0915”(physical association) | 0.960 |
| MED18 | MED20 | psi-mi:“MI:0915”(physical association) | 0.960 |
| MED10 | MED19 | psi-mi:“MI:0914”(association) | 0.910 |
| MED10 | MED19 | psi-mi:“MI:0915”(physical association) | 0.910 |
| MED4 | MED19 | psi-mi:“MI:2364”(proximity) | 0.900 |
| MED4 | MED19 | psi-mi:“MI:0914”(association) | 0.900 |
| MED29 | MED19 | psi-mi:“MI:0914”(association) | 0.890 |
| MED29 | MED18 | psi-mi:“MI:0914”(association) | 0.890 |
| MED29 | MED18 | psi-mi:“MI:0915”(physical association) | 0.890 |
| MED21 | MED19 | psi-mi:“MI:0914”(association) | 0.880 |
BioGRID (289): MED18 (Two-hybrid), MED18 (Two-hybrid), TRIM39 (Two-hybrid), HOMEZ (Two-hybrid), MED18 (Affinity Capture-MS), MED18 (Affinity Capture-MS), MED18 (Affinity Capture-MS), MED1 (Co-fractionation), MED11 (Co-fractionation), MED12 (Co-fractionation), MED14 (Co-fractionation), MED15 (Co-fractionation), MED16 (Co-fractionation), MED17 (Co-fractionation), MED18 (Co-fractionation)
ESM2 similar proteins: A1CE73, A1CGW7, A1CLT5, A1CQ63, A1D327, A1DM82, A2Q9L8, A2RBB7, A4D9J5, A4RI88, G0RYC6, G0S0E7, G0S8H7, G0S9A7, O14198, P34162, P91641, Q0CL68, Q0VCD4, Q17IN5, Q1E065, Q28GE1, Q2H4N1, Q2KG01, Q2UMB8, Q4WNC6, Q54MR3, Q5B128, Q5BE03, Q5KEQ1, Q61D43, Q6BXL9, Q6CAY6, Q6CDK1, Q6DD39, Q6DRD4, Q6FSU0, Q755F7, Q75EI4, Q7QGX9
Diamond homologs: Q0VCD4, Q17IN5, Q28GE1, Q6DD39, Q7QGX9, Q7T3H7, Q966M5, Q9BUE0, Q9CZ82, Q9XZT1, Q61D43
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| MED18 | “form complex” | “Core mediator complex” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 68 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 | 25 | 98.5× | 5e-44 |
| RSV-host interactions | 25 | 78.2× | 2e-41 |
| Adipogenesis | 25 | 78.2× | 2e-41 |
| Regulation of lipid metabolism by PPARalpha | 25 | 70.5× | 4e-40 |
| Epigenetic regulation of adipogenesis genes by MLL3 and MLL4 complexes | 16 | 69.0× | 8e-25 |
| Transcriptional regulation of white adipocyte differentiation | 25 | 64.9× | 3e-39 |
| Epigenetic regulation of gene expression by MLL3 and MLL4 complexes | 16 | 63.0× | 3e-24 |
| Epigenetic regulation by WDR5-containing histone modifying complexes | 16 | 49.4× | 2e-22 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| positive regulation of transcription elongation by RNA polymerase II | 21 | 107.1× | 1e-36 |
| positive regulation of transcription initiation by RNA polymerase II | 22 | 101.3× | 1e-37 |
| RNA polymerase II preinitiation complex assembly | 21 | 96.7× | 9e-36 |
| transcription initiation at RNA polymerase II promoter | 8 | 50.8× | 2e-10 |
| somatic stem cell population maintenance | 11 | 46.2× | 4e-14 |
| protein ubiquitination | 12 | 8.4× | 8e-07 |
| transcription by RNA polymerase II | 7 | 8.4× | 7e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
33 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 30 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
290 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:28329178:G:GT | donor_gain | 1.0000 |
| 1:28330591:TTCCA:T | acceptor_loss | 1.0000 |
| 1:28330592:TCCA:T | acceptor_loss | 1.0000 |
| 1:28330593:CCA:C | acceptor_loss | 1.0000 |
| 1:28330594:CA:C | acceptor_loss | 1.0000 |
| 1:28330595:AGGTA:A | acceptor_loss | 1.0000 |
| 1:28330596:G:GA | acceptor_loss | 1.0000 |
| 1:28330731:GCAGG:G | donor_gain | 1.0000 |
| 1:28330732:CAGG:C | donor_gain | 1.0000 |
| 1:28330732:CAGGG:C | donor_loss | 1.0000 |
| 1:28330734:GG:G | donor_gain | 1.0000 |
| 1:28330735:GG:G | donor_gain | 1.0000 |
| 1:28330736:G:GG | donor_gain | 1.0000 |
| 1:28330736:GTA:G | donor_loss | 1.0000 |
| 1:28330737:T:A | donor_loss | 1.0000 |
| 1:28334416:GGA:G | acceptor_gain | 1.0000 |
| 1:28334416:GGAA:G | acceptor_gain | 1.0000 |
| 1:28329177:GGAG:G | donor_gain | 0.9900 |
| 1:28329178:G:T | donor_gain | 0.9900 |
| 1:28329232:G:GT | donor_gain | 0.9900 |
| 1:28330596:GGT:G | acceptor_gain | 0.9900 |
| 1:28330596:GGTAT:G | acceptor_gain | 0.9900 |
| 1:28330719:G:GT | donor_gain | 0.9900 |
| 1:28330733:AGG:A | donor_gain | 0.9900 |
| 1:28330734:GGG:G | donor_gain | 0.9900 |
| 1:28334412:TTCA:T | acceptor_loss | 0.9900 |
| 1:28334415:A:AG | acceptor_gain | 0.9900 |
| 1:28334415:AG:A | acceptor_gain | 0.9900 |
| 1:28334416:G:GG | acceptor_gain | 0.9900 |
| 1:28334416:GG:G | acceptor_gain | 0.9900 |
AlphaMissense
1400 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:28330735:G:A | G25R | 1.000 |
| 1:28330735:G:C | G25R | 1.000 |
| 1:28334459:T:C | L39P | 1.000 |
| 1:28334921:T:C | L193P | 1.000 |
| 1:28334417:G:A | G25E | 0.999 |
| 1:28334423:T:A | V27D | 0.999 |
| 1:28334455:C:A | R38S | 0.999 |
| 1:28334459:T:A | L39H | 0.999 |
| 1:28334464:G:C | G41R | 0.999 |
| 1:28334465:G:A | G41D | 0.999 |
| 1:28334471:G:A | C43Y | 0.999 |
| 1:28334597:T:C | L85P | 0.999 |
| 1:28334600:G:C | R86P | 0.999 |
| 1:28334602:T:G | Y87D | 0.999 |
| 1:28334651:G:C | R103P | 0.999 |
| 1:28334740:G:A | G133R | 0.999 |
| 1:28334740:G:C | G133R | 0.999 |
| 1:28334741:G:A | G133E | 0.999 |
| 1:28334933:T:A | V197D | 0.999 |
| 1:28334447:T:C | L35P | 0.998 |
| 1:28334456:G:C | R38P | 0.998 |
| 1:28334459:T:G | L39R | 0.998 |
| 1:28334472:T:G | C43W | 0.998 |
| 1:28334558:C:A | A72D | 0.998 |
| 1:28334609:G:A | G89E | 0.998 |
| 1:28334696:T:C | L118S | 0.998 |
| 1:28334710:T:C | F123L | 0.998 |
| 1:28334711:T:C | F123S | 0.998 |
| 1:28334712:C:A | F123L | 0.998 |
| 1:28334712:C:G | F123L | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000090415 (1:28335913 T>A), RS1000273693 (1:28331028 T>C), RS1001191827 (1:28329992 G>A,C), RS1001328743 (1:28330236 T>C), RS1001339585 (1:28336375 T>C), RS1001623422 (1:28330198 C>T), RS1001931813 (1:28331749 ATT>A,AT,ATTT,ATTTT), RS1002221418 (1:28328995 G>A,C), RS1002342080 (1:28335273 C>G), RS1002374693 (1:28335499 C>G,T), RS1002596809 (1:28328837 C>G), RS1003209061 (1:28327509 C>A,G), RS1003347317 (1:28333628 G>A), RS1003397827 (1:28333726 G>C), RS1003649575 (1:28327831 C>T)
Disease associations
OMIM: gene MIM:612384 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004250_24 | Alanine aminotransferase (ALT) levels after remission induction therapy in actute lymphoblastic leukemia (ALL) | 3.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007965 | response to combination chemotherapy |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
29 total (human), top 29 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | increases abundance, increases expression, increases stability, decreases expression | 5 |
| Arsenic | increases abundance, increases methylation, decreases expression | 2 |
| Benzo(a)pyrene | affects methylation, increases expression | 2 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| bisphenol F | increases expression, affects cotreatment | 1 |
| urushiol | decreases expression | 1 |
| bisphenol A | affects cotreatment, increases expression | 1 |
| ferrous chloride | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| corosolic acid | increases expression | 1 |
| monomethylarsonous acid | decreases expression | 1 |
| bisphenol S | affects cotreatment, increases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Diethylhexyl Phthalate | increases expression | 1 |
| Estradiol | affects expression | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Rotenone | decreases expression | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Dronabinol | decreases expression | 1 |
| Thimerosal | decreases expression | 1 |
| Thiram | decreases expression | 1 |
| Tretinoin | increases expression | 1 |
| Urethane | increases expression | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, increases expression | 1 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 1 |
| Metribolone | affects splicing | 1 |
| Cadmium Chloride | decreases expression | 1 |
| Lactic Acid | decreases expression | 1 |
| Acrylamide | increases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.