MED8

Summary

MED8 (mediator complex subunit 8, HGNC:19971) is a protein-coding gene on chromosome 1p34.2, encoding Mediator of RNA polymerase II transcription subunit 8 (Q96G25). Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. It is a common-essential gene (DepMap: required in 98.5% of cancer cell lines).

This gene encodes a protein component of the mediator complex, which aids in transcriptional activation through interaction with RNA polymerase II and gene-specific transcription factors. The encoded protein may also function in ubiquitin ligation and protein degradation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.

Source: NCBI Gene 112950 — RefSeq curated summary.

At a glance

• GWAS associations: 10
• Clinical variants (ClinVar): 34 total
• Cancer dependency (DepMap): dependent in 98.5% of screened cell lines (common-essential)
• MANE Select transcript: NM_201542

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19971
Approved symbol	MED8
Name	mediator complex subunit 8
Location	1p34.2
Locus type	gene with protein product
Status	Approved
Aliases	MGC17544, MGC19641, ARC32
Ensembl gene	ENSG00000159479
Ensembl biotype	protein_coding
OMIM	607956
Entrez	112950

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 6 protein_coding, 2 retained_intron

ENST00000290663, ENST00000372455, ENST00000372457, ENST00000460803, ENST00000473560, ENST00000939322, ENST00000939323, ENST00000939324

RefSeq mRNA: 3 — MANE Select: NM_201542 NM_001001653, NM_052877, NM_201542

CCDS: CCDS486, CCDS487, CCDS60108

Canonical transcript exons

ENST00000372457 — 7 exons

Exon	Start	End
ENSE00001045876	43385978	43386226
ENSE00001457857	43383917	43385106
ENSE00001659380	43388310	43388428
ENSE00003483905	43386858	43386998
ENSE00003527171	43387503	43387647
ENSE00003659201	43386589	43386670
ENSE00003847219	43389759	43389800

Expression profiles

Bgee: expression breadth ubiquitous, 287 present calls, max score 95.08.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 19.8698 / max 177.2784, expressed in 1811 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
12042	18.6962	1810
12043	0.6005	335
12041	0.5730	295

Top tissues by expression

295 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
oocyte	CL:0000023	95.08	gold quality
secondary oocyte	CL:0000655	95.03	gold quality
stromal cell of endometrium	CL:0002255	93.05	gold quality
adenohypophysis	UBERON:0002196	92.43	gold quality
esophagus mucosa	UBERON:0002469	92.36	gold quality
pituitary gland	UBERON:0000007	92.05	gold quality
mucosa of transverse colon	UBERON:0004991	91.78	gold quality
lower esophagus mucosa	UBERON:0035834	91.32	gold quality
skin of leg	UBERON:0001511	91.07	gold quality
body of pancreas	UBERON:0001150	90.95	gold quality
skin of abdomen	UBERON:0001416	90.77	gold quality
esophagus	UBERON:0001043	90.70	gold quality
body of stomach	UBERON:0001161	90.58	gold quality
right lobe of liver	UBERON:0001114	90.57	gold quality
islet of Langerhans	UBERON:0000006	90.50	gold quality
rectum	UBERON:0001052	90.33	gold quality
left lobe of thyroid gland	UBERON:0001120	90.24	gold quality
thoracic aorta	UBERON:0001515	90.19	gold quality
granulocyte	CL:0000094	90.15	gold quality
pancreas	UBERON:0001264	90.15	gold quality
ascending aorta	UBERON:0001496	90.15	gold quality
left adrenal gland	UBERON:0001234	90.07	gold quality
left coronary artery	UBERON:0001626	90.06	gold quality
right coronary artery	UBERON:0001625	90.05	gold quality
right lobe of thyroid gland	UBERON:0001119	90.00	gold quality
descending thoracic aorta	UBERON:0002345	89.88	gold quality
coronary artery	UBERON:0001621	89.79	gold quality
minor salivary gland	UBERON:0001830	89.76	gold quality
omental fat pad	UBERON:0010414	89.74	gold quality
left adrenal gland cortex	UBERON:0035825	89.74	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

31 targeting MED8, 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-188-3P	100.00	68.76	1240
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-221-5P	99.86	65.45	1052
HSA-MIR-8073	99.86	65.21	1118
HSA-MIR-92A-2-5P	99.75	67.01	2164
HSA-MIR-1200	99.71	70.42	1838
HSA-MIR-5093	99.67	69.26	2291
HSA-MIR-9851-3P	99.63	69.68	1110
HSA-MIR-1260A	99.61	66.67	1098
HSA-MIR-1260B	99.61	66.67	1098
HSA-MIR-5584-5P	99.49	68.22	2814
HSA-MIR-2392	99.43	67.50	708
HSA-MIR-593-5P	99.34	69.50	965
HSA-MIR-4293	99.22	65.46	1263
HSA-MIR-6071	99.16	67.77	1780
HSA-MIR-892C-5P	99.16	70.56	2116
HSA-MIR-3125	99.14	68.49	2269
HSA-MIR-6881-5P	98.16	67.38	665
HSA-MIR-93-3P	98.15	66.65	1309
HSA-MIR-4469	97.93	65.81	1319
HSA-MIR-6847-5P	97.93	66.74	1808
HSA-MIR-4448	97.04	66.22	752
HSA-MIR-4652-5P	96.46	64.22	553
HSA-MIR-6742-5P	96.32	64.01	869
HSA-MIR-365A-5P	94.91	63.72	471

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 98.5% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 2)

• mammalian mediator subunit mMED8 is an elongin BC-interacting protein that can assemble with Cul2 and Rbx1 reconstitute a ubiquitin ligase (Ubc5; E2 ubiquitin-conjugating enzyme Ubc5) (PMID:12149480)
• ability to inhibit both host transcription and the interferon response is linked to interaction of NSs with the MED8 component of Mediator, a protein complex necessary for mRNA production (PMID:16973571)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	med8	ENSDARG00000114425
mus_musculus	Med8	ENSMUSG00000006392
rattus_norvegicus	Med8	ENSRNOG00000028477
drosophila_melanogaster	MED8	FBGN0034503
caenorhabditis_elegans		WBGENE00007013

Protein

Protein identifiers

Mediator of RNA polymerase II transcription subunit 8 — Q96G25 (reviewed: Q96G25)

Alternative names: Activator-recruited cofactor 32 kDa component, Mediator complex subunit 8

All UniProt accessions (1): Q96G25

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. May play a role as a target recruitment subunit in E3 ubiquitin-protein ligase complexes and thus in ubiquitination and subsequent proteasomal degradation of target proteins.

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. May be part of a multisubunit E3 ubiquitin-protein ligase complex with the elongin BC complex (ELOB and ELOC), CUL2 and RBX1.

Subcellular location. Nucleus.

Domain organisation. The elongin BC complex binding domain is also known as BC-box with the consensus [APST]-L-x(3)-C-x(3)-[AILV].

Pathway. Protein modification; protein ubiquitination.

Similarity. Belongs to the Mediator complex subunit 8 family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q96G25-1	1	yes
Q96G25-2	2
Q96G25-3	3

RefSeq proteins (3): NP_001001653, NP_443109, NP_963836* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR019364	Mediatior_Med8_fun/met	Family

Pfam: PF10232

UniProt features (24 total): helix 7, region of interest 3, splice variant 2, mutagenesis site 2, turn 2, coiled-coil region 2, compositionally biased region 2, chain 1, sequence conflict 1, strand 1, modified residue 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-Q96G25-F1	76.67	0.43

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): 82

Mutagenesis-validated functional residues (2):

Position	Phenotype
143	impairs interaction with the elongin bc complex; when associated with f-147.
147	impairs interaction with the elongin bc complex; when associated with p-143.

Function

Pathways and Gene Ontology

Reactome pathways

15 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-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-73857	RNA Polymerase II Transcription
R-HSA-74160	Gene expression (Transcription)
R-HSA-9820952	Respiratory Syncytial Virus Infection Pathway
R-HSA-9824446	Viral Infection Pathways
R-HSA-9843745	Adipogenesis

MSigDB gene sets: 184 (showing top): REACTOME_TRANSCRIPTIONAL_REGULATION_OF_WHITE_ADIPOCYTE_DIFFERENTIATION, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, FREAC2_01, CCAWYNNGAAR_UNKNOWN, GCANCTGNY_MYOD_Q6, GOBP_POSITIVE_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, FOXO4_01, FOXO1_01, COUP_01, KESHELAVA_MULTIPLE_DRUG_RESISTANCE, GGAANCGGAANY_UNKNOWN, GOBP_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, chr1p34, HNF4_DR1_Q3, HNF4_01

GO Biological Process (5): regulation of transcription by RNA polymerase II (GO:0006357), protein ubiquitination (GO:0016567), 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)

GO Molecular Function (4): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), transcription coregulator activity (GO:0003712), ubiquitin protein ligase activity (GO:0061630), protein binding (GO:0005515)

GO Cellular Component (5): ubiquitin ligase complex (GO:0000151), nucleus (GO:0005634), nucleoplasm (GO:0005654), mediator complex (GO:0016592), core mediator complex (GO:0070847)

Reactome top-level categories

Rollup of top-11 pathways:

Category	Pathways
Regulation of lipid metabolism by PPARalpha	1
RNA Polymerase II Transcription	1
Adipogenesis	1
Respiratory Syncytial Virus Infection Pathway	1
Metabolism of lipids	1
Metabolism	1
Disease	1
Gene expression (Transcription)	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
regulation of DNA-templated transcription	1
transcription by RNA polymerase II	1
protein modification by small protein conjugation	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
RNA polymerase II transcription regulatory region sequence-specific DNA binding	1
cis-regulatory region sequence-specific DNA binding	1
transcription regulator activity	1
ubiquitin-protein transferase activity	1
ubiquitin-like protein ligase activity	1
binding	1
intracellular protein-containing complex	1
transferase complex	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

966 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MED8	MED17	Q9NVC6	996
MED8	MED20	Q9H944	996
MED8	MED22	Q15528	996
MED8	MED18	Q9BUE0	996
MED8	MED11	Q9P086	995
MED8	MED6	O75586	993
MED8	MED10	Q9BTT4	949
MED8	MED7	O43513	904
MED8	MED30	Q96HR3	898
MED8	MED14	O60244	882
MED8	CDK8	P49336	853
MED8	MED31	Q9Y3C7	852
MED8	NIPBL	Q6KC79	834
MED8	MED21	Q13503	834
MED8	MED19	A0JLT2	827

IntAct

158 interactions, top by confidence:

A	B	Type	Score
ELOB	ELOC	psi-mi:“MI:0914”(association)	0.950
MED10	MED19	psi-mi:“MI:0914”(association)	0.910
MED10	MED19	psi-mi:“MI:0915”(physical association)	0.910
MED10	MED8	psi-mi:“MI:0914”(association)	0.910
MED4	MED19	psi-mi:“MI:2364”(proximity)	0.900
MED4	MED19	psi-mi:“MI:0914”(association)	0.900
CDK8	MED14	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
MED10	MED6	psi-mi:“MI:0914”(association)	0.870
MED17	MED22	psi-mi:“MI:0914”(association)	0.860
CDK8	MED19	psi-mi:“MI:2364”(proximity)	0.850
CDK8	MED19	psi-mi:“MI:0914”(association)	0.850

BioGRID (279): MED8 (Two-hybrid), KRT40 (Two-hybrid), MED8 (Affinity Capture-RNA), MED8 (Affinity Capture-RNA), MED8 (Affinity Capture-MS), MED8 (Affinity Capture-MS), MED8 (Affinity Capture-MS), MED8 (Affinity Capture-MS), MED8 (Affinity Capture-MS), MED8 (Affinity Capture-MS), MED1 (Co-fractionation), MED10 (Co-fractionation), MED11 (Co-fractionation), MED12 (Co-fractionation), MED14 (Co-fractionation)

ESM2 similar proteins: A1A4Q8, A2RSY1, A4IHD9, A4IIZ9, A8E5U3, B5DF93, F4HPA7, O57595, P68943, Q03297, Q08BU1, Q08D01, Q0IHI6, Q24767, Q2QCI8, Q2TBN4, Q2YDF2, Q3TC46, Q499B3, Q4VCS5, Q5HZZ6, Q5PPY2, Q5R8Q4, Q5RBZ4, Q5RKN3, Q60520, Q62415, Q66KX4, Q6DD30, Q6GP15, Q6NYT1, Q6PC45, Q6PEH8, Q71SY5, Q7KW14, Q86TB9, Q8BG30, Q8JHI6, Q8VCB2, Q8VHG2

Diamond homologs: A1ZBT5, Q08BU1, Q16RR7, Q5HZZ6, Q6DD30, Q6NYT1, Q7Q6D6, Q96G25, Q9D7W5

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
MED8	“form complex”	“Core mediator complex”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 90 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	26	78.8×	1e-42
RSV-host interactions	26	62.6×	8e-40
Adipogenesis	26	62.6×	8e-40
Regulation of lipid metabolism by PPARalpha	26	56.4×	2e-38
Epigenetic regulation of adipogenesis genes by MLL3 and MLL4 complexes	16	53.0×	1e-22
Transcriptional regulation of white adipocyte differentiation	26	51.9×	2e-37
Epigenetic regulation of gene expression by MLL3 and MLL4 complexes	16	48.5×	5e-22
Epigenetic regulation by WDR5-containing histone modifying complexes	17	40.4×	5e-22

GO biological processes:

GO term	Partners	Fold	FDR
positive regulation of transcription initiation by RNA polymerase II	24	85.8×	5e-39
positive regulation of transcription elongation by RNA polymerase II	21	83.2×	6e-34
RNA polymerase II preinitiation complex assembly	23	82.3×	4e-37
transcription initiation at RNA polymerase II promoter	9	44.4×	5e-11
somatic stem cell population maintenance	11	35.9×	1e-12
skeletal muscle cell differentiation	5	22.6×	1e-04
mRNA transcription by RNA polymerase II	5	21.7×	2e-04
transcription by RNA polymerase II	14	13.0×	3e-10

Disease & clinical

Clinical variants and AI predictions

ClinVar

34 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	23
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1105 predictions. Top by Δscore:

Variant	Effect	Δscore
1:43386584:CATA:C	donor_loss	1.0000
1:43386587:A:T	donor_loss	1.0000
1:43386588:C:CA	donor_loss	1.0000
1:43386590:T:TA	donor_gain	1.0000
1:43386671:C:CC	acceptor_gain	1.0000
1:43386806:G:C	donor_gain	1.0000
1:43386850:A:AC	donor_gain	1.0000
1:43386999:C:CC	acceptor_gain	1.0000
1:43387497:TCTTA:T	donor_loss	1.0000
1:43387498:CTTA:C	donor_loss	1.0000
1:43387499:TTA:T	donor_loss	1.0000
1:43387500:TACCA:T	donor_loss	1.0000
1:43387501:A:AC	donor_gain	1.0000
1:43387501:ACCA:A	donor_loss	1.0000
1:43387502:C:A	donor_loss	1.0000
1:43387502:C:CC	donor_gain	1.0000
1:43388304:TCTTA:T	donor_loss	1.0000
1:43388306:TTA:T	donor_loss	1.0000
1:43388307:TA:T	donor_loss	1.0000
1:43388308:A:AC	donor_gain	1.0000
1:43388309:C:CC	donor_gain	1.0000
1:43388427:CT:C	acceptor_gain	1.0000
1:43388429:C:CC	acceptor_gain	1.0000
1:43388435:C:CT	acceptor_gain	1.0000
1:43388436:A:T	acceptor_gain	1.0000
1:43385102:TTTCC:T	acceptor_gain	0.9900
1:43385103:TTCC:T	acceptor_gain	0.9900
1:43385104:TCC:T	acceptor_gain	0.9900
1:43385104:TCCC:T	acceptor_loss	0.9900
1:43385105:CC:C	acceptor_gain	0.9900

AlphaMissense

1740 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:43386943:A:G	L109P	1.000
1:43386940:C:G	R110T	0.999
1:43386955:A:T	V105D	0.999
1:43385084:T:A	K255N	0.998
1:43385084:T:G	K255N	0.998
1:43386169:G:T	A184D	0.998
1:43386170:C:G	A184P	0.998
1:43386178:A:G	L181S	0.998
1:43386940:C:A	R110I	0.998
1:43387606:A:G	L56P	0.998
1:43387636:A:G	L46P	0.998
1:43387639:A:T	V45D	0.998
1:43387647:C:A	W42C	0.998
1:43387647:C:G	W42C	0.998
1:43388370:A:G	L22P	0.998
1:43385072:C:A	K259N	0.997
1:43385072:C:G	K259N	0.997
1:43385074:T:C	K259E	0.997
1:43385076:A:G	I258T	0.997
1:43385085:T:A	K255I	0.997
1:43385086:T:C	K255E	0.997
1:43386157:C:T	G188E	0.997
1:43386166:A:T	V185D	0.997
1:43386939:T:A	R110S	0.997
1:43386939:T:G	R110S	0.997
1:43386943:A:T	L109Q	0.997
1:43386966:G:C	S101R	0.997
1:43386966:G:T	S101R	0.997
1:43386968:T:G	S101R	0.997
1:43387597:A:G	L59P	0.997

dbSNP variants (sampled 300 via entrez): RS1000070970 (1:43389376 T>C), RS1000110023 (1:43384333 T>C), RS1000128151 (1:43384805 C>T), RS1000520421 (1:43383443 T>G), RS1000673940 (1:43391596 A>G), RS1001056375 (1:43383732 A>C), RS1001265536 (1:43389898 C>A,T), RS1001281687 (1:43385544 C>A,T), RS1002336046 (1:43387720 C>T), RS1002964768 (1:43391020 A>T), RS1003048333 (1:43387291 G>T), RS1003344272 (1:43391348 A>G), RS1003754517 (1:43389548 C>G,T), RS1003917396 (1:43383799 G>A), RS1004154256 (1:43391476 G>T)

Disease associations

OMIM: gene MIM:607956 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

10 associations (top):

Study	Trait	p-value
GCST004946_9	Schizophrenia	1.000000e-12
GCST006950_44	Feeling worry	3.000000e-09
GCST010696_6	Cortical thickness (min-P)	3.000000e-08
GCST010697_32	Cortical surface area (min-P)	4.000000e-08
GCST010698_63	Subcortical volume (min-P)	3.000000e-09
GCST010699_87	Brain morphology (min-P)	9.000000e-14
GCST010700_24	Cortical thickness (MOSTest)	1.000000e-10
GCST010701_5	Cortical surface area (MOSTest)	1.000000e-08
GCST010702_132	Subcortical volume (MOSTest)	8.000000e-15
GCST010703_201	Brain morphology (MOSTest)	1.000000e-11

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0009589	worry measurement
EFO:0004346	neuroimaging measurement
EFO:0004840	cortical thickness

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

37 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression	3
sodium arsenite	increases expression, decreases expression, increases abundance	2
Cyclosporine	increases expression	2
Cadmium Chloride	increases expression	2
TAK-243	increases sumoylation	1
dicrotophos	decreases expression	1
testosterone enanthate	affects expression	1
triphenyl phosphate	affects expression	1
bisphenol A	affects expression	1
beta-lapachone	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
manganese chloride	decreases expression, increases abundance	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
K 7174	increases expression	1
ICG 001	increases expression	1
abrine	increases expression	1
2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide	increases expression, affects cotreatment	1
Resveratrol	affects cotreatment, increases expression	1
Air Pollutants	increases abundance, increases expression	1
Arsenic	decreases expression, increases abundance	1
Doxorubicin	decreases expression	1
Ethinyl Estradiol	affects expression	1
Hydralazine	affects cotreatment, increases expression	1
Manganese	decreases expression, increases abundance	1
Methyl Methanesulfonate	increases expression	1
Plant Extracts	affects cotreatment, increases expression	1
Silicon Dioxide	increases expression	1
Tetrachlorodibenzodioxin	affects cotreatment, increases expression	1
Dronabinol	decreases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.