MED4

Summary

MED4 (mediator complex subunit 4, HGNC:17903) is a protein-coding gene on chromosome 13q14.2, encoding Mediator of RNA polymerase II transcription subunit 4 (Q9NPJ6). 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 98.8% of cancer cell lines).

This gene encodes a component of the Mediator complex. The Mediator complex interacts with DNA-binding gene-specific transcription factors to modulate transcription by RNA polymerase II. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.

Source: NCBI Gene 29079 — RefSeq curated summary.

At a glance

• GWAS associations: 7
• Clinical variants (ClinVar): 53 total
• Cancer dependency (DepMap): dependent in 98.8% of screened cell lines (common-essential)
• MANE Select transcript: NM_014166

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17903
Approved symbol	MED4
Name	mediator complex subunit 4
Location	13q14.2
Locus type	gene with protein product
Status	Approved
Aliases	HSPC126, DRIP36, TRAP36
Ensembl gene	ENSG00000136146
Ensembl biotype	protein_coding
OMIM	605718
Entrez	29079

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 9 protein_coding, 1 non_stop_decay

ENST00000258648, ENST00000378586, ENST00000417167, ENST00000495013, ENST00000898190, ENST00000898191, ENST00000898192, ENST00000898193, ENST00000898194, ENST00000963481

RefSeq mRNA: 2 — MANE Select: NM_014166 NM_001270629, NM_014166

CCDS: CCDS59241, CCDS9408

Canonical transcript exons

ENST00000258648 — 7 exons

Exon	Start	End
ENSE00000836818	48075724	48077311
ENSE00000836820	48081645	48081731
ENSE00000836821	48083371	48083428
ENSE00000836822	48086282	48086452
ENSE00000836824	48094954	48095104
ENSE00003630250	48090352	48090418
ENSE00003748106	48079844	48079975

Expression profiles

Bgee: expression breadth ubiquitous, 290 present calls, max score 96.53.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 20.5193 / max 250.4997, expressed in 1798 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
137241	16.8175	1787
137240	3.7018	1525

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	96.53	gold quality
gingival epithelium	UBERON:0001949	95.86	gold quality
palpebral conjunctiva	UBERON:0001812	95.81	gold quality
germinal epithelium of ovary	UBERON:0001304	95.44	gold quality
rectum	UBERON:0001052	95.25	gold quality
monocyte	CL:0000576	95.08	gold quality
epithelium of nasopharynx	UBERON:0001951	94.83	gold quality
nasopharynx	UBERON:0001728	94.82	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	94.77	gold quality
mononuclear cell	CL:0000842	94.74	gold quality
leukocyte	CL:0000738	94.65	gold quality
right testis	UBERON:0004534	94.63	gold quality
tibial artery	UBERON:0007610	94.37	gold quality
popliteal artery	UBERON:0002250	94.36	gold quality
left testis	UBERON:0004533	94.34	gold quality
hindlimb stylopod muscle	UBERON:0004252	94.23	gold quality
artery	UBERON:0001637	94.19	gold quality
descending thoracic aorta	UBERON:0002345	94.12	gold quality
lower esophagus muscularis layer	UBERON:0035833	94.10	gold quality
lower esophagus	UBERON:0013473	94.09	gold quality
testis	UBERON:0000473	94.05	gold quality
mucosa of stomach	UBERON:0001199	93.97	gold quality
left coronary artery	UBERON:0001626	93.96	gold quality
aorta	UBERON:0000947	93.93	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	93.91	gold quality
gastrocnemius	UBERON:0001388	93.86	gold quality
eye	UBERON:0000970	93.85	gold quality
gingiva	UBERON:0001828	93.85	gold quality
muscle layer of sigmoid colon	UBERON:0035805	93.84	gold quality
esophagus	UBERON:0001043	93.76	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	10.68

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

118 targeting MED4, 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-518D-5P	100.00	67.51	979
HSA-MIR-518E-5P	100.00	67.66	954
HSA-MIR-518F-5P	100.00	67.51	979
HSA-MIR-519A-5P	100.00	67.66	954
HSA-MIR-519B-5P	100.00	67.66	954
HSA-MIR-519C-5P	100.00	67.66	954
HSA-MIR-520C-5P	100.00	67.51	979
HSA-MIR-522-5P	100.00	67.66	954
HSA-MIR-523-5P	100.00	67.66	954
HSA-MIR-526A-5P	100.00	67.51	979
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-3148	99.97	75.06	6478
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-144-3P	99.94	73.98	2698
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 98.8% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 1)

• retinoblastoma RB1 -/- cells cannot survive in the absence of MED4, both in vitro and in orthotopic xenograft models in vivo, therefore identifying MED4 as a survival gene in retinoblastoma. (PMID:24858910)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	med4	ENSDARG00000041503
mus_musculus	Med4	ENSMUSG00000022109
rattus_norvegicus	Med4	ENSRNOG00000017170
drosophila_melanogaster	MED4	FBGN0035754
caenorhabditis_elegans		WBGENE00007012

Protein

Protein identifiers

Mediator of RNA polymerase II transcription subunit 4 — Q9NPJ6 (reviewed: Q9NPJ6)

Alternative names: Activator-recruited cofactor 36 kDa component, Mediator complex subunit 4, TRAP/SMCC/PC2 subunit p36 subunit, Vitamin D3 receptor-interacting protein complex 36 kDa component

All UniProt accessions (3): A0A087X0U0, Q9NPJ6, Q5T911

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 4 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9NPJ6-1	1	yes
Q9NPJ6-2	2

RefSeq proteins (2): NP_001257558, NP_054885* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR019258	Mediator_Med4	Family

Pfam: PF10018

UniProt features (25 total): sequence conflict 8, helix 5, region of interest 2, coiled-coil region 2, modified residue 2, initiator methionine 1, chain 1, turn 1, strand 1, compositionally biased region 1, splice variant 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-Q9NPJ6-F1	74.79	0.44

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 (2): 2, 32

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: 140 (showing top): REACTOME_TRANSCRIPTIONAL_REGULATION_OF_WHITE_ADIPOCYTE_DIFFERENTIATION, GOBP_POSITIVE_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, GOBP_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, SCHAEFFER_PROSTATE_DEVELOPMENT_AND_CANCER_BOX5_DN, GOBP_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, GOBP_TRANSCRIPTION_INITIATION_AT_RNA_POLYMERASE_II_PROMOTER, TIEN_INTESTINE_PROBIOTICS_24HR_UP, LIU_CMYB_TARGETS_UP, GOBP_PROTEIN_DNA_COMPLEX_ORGANIZATION, LIU_VMYB_TARGETS_UP, GOBP_POSITIVE_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_ELONGATION, GOBP_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_ELONGATION, chr13q14, GOCC_RNA_POLYMERASE_II_TRANSCRIPTION_REGULATOR_COMPLEX, GOCC_TRANSCRIPTION_REGULATOR_COMPLEX

GO Biological Process (6): regulation of transcription by RNA polymerase II (GO:0006357), transcription by RNA polymerase II (GO:0006366), positive regulation of transcription elongation by RNA polymerase II (GO:0032968), positive regulation of DNA-templated transcription (GO:0045893), RNA polymerase II preinitiation complex assembly (GO:0051123), positive regulation of transcription initiation by RNA polymerase II (GO:0060261)

GO Molecular Function (5): transcription coregulator activity (GO:0003712), transcription coactivator activity (GO:0003713), nuclear vitamin D receptor binding (GO:0042809), nuclear thyroid hormone receptor binding (GO:0046966), protein binding (GO:0005515)

GO Cellular Component (5): nucleus (GO:0005634), nucleoplasm (GO:0005654), membrane (GO:0016020), 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 DNA-templated transcription	2
DNA-templated transcription	2
positive regulation of transcription by RNA polymerase II	2
transcription initiation at RNA polymerase II promoter	2
nuclear receptor binding	2
cellular anatomical structure	2
transcription by RNA polymerase II	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
positive regulation of RNA biosynthetic process	1
transcription preinitiation complex assembly	1
regulation of transcription initiation by RNA polymerase II	1
positive regulation of DNA-templated transcription initiation	1
transcription regulator activity	1
transcription coregulator activity	1
positive regulation of DNA-templated transcription	1
binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
core mediator complex	1
nuclear protein-containing complex	1
RNA polymerase II transcription regulator complex	1

Protein interactions and networks

STRING

1572 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MED4	MED9	Q9NWA0	987
MED4	MED23	Q9ULK4	941
MED4	MED14	O60244	874
MED4	MED10	Q9BTT4	869
MED4	MED6	O75586	852
MED4	MED7	O43513	835
MED4	MED31	Q9Y3C7	831
MED4	MED17	Q9NVC6	793
MED4	MED8	Q96G25	769
MED4	MED20	Q9H944	768
MED4	MED21	Q13503	764
MED4	MED1	Q15648	741
MED4	MED29	Q9NX70	736
MED4	MED26	O95402	734
MED4	MED19	A0JLT2	730

IntAct

351 interactions, top by confidence:

A	B	Type	Score
CEP290	CCP110	psi-mi:“MI:2364”(proximity)	0.890
CDK8	MED19	psi-mi:“MI:2364”(proximity)	0.850
CDK8	MED19	psi-mi:“MI:0914”(association)	0.850
MED4	TXLNA	psi-mi:“MI:0915”(physical association)	0.840
TXLNA	MED4	psi-mi:“MI:0915”(physical association)	0.840
TNFAIP8	MED4	psi-mi:“MI:0915”(physical association)	0.780
MED4	TNFAIP8	psi-mi:“MI:0915”(physical association)	0.780
MED4	IFT20	psi-mi:“MI:0915”(physical association)	0.740
TXLNB	MED4	psi-mi:“MI:0915”(physical association)	0.740
PSMC5	PSMD11	psi-mi:“MI:0914”(association)	0.730
USHBP1	MED4	psi-mi:“MI:0915”(physical association)	0.720
CCHCR1	MED4	psi-mi:“MI:0915”(physical association)	0.720
SMARCD1	MED4	psi-mi:“MI:0915”(physical association)	0.720
SSX3	MED4	psi-mi:“MI:0915”(physical association)	0.720
MED4	SMARCD1	psi-mi:“MI:0915”(physical association)	0.720
MED4	USHBP1	psi-mi:“MI:0915”(physical association)	0.720
MED4	CCHCR1	psi-mi:“MI:0915”(physical association)	0.720
MED4	SSX3	psi-mi:“MI:0915”(physical association)	0.720

BioGRID (773): MED4 (Two-hybrid), MED4 (Two-hybrid), MED4 (Two-hybrid), MED4 (Two-hybrid), MED4 (Two-hybrid), MED4 (Two-hybrid), MED4 (Two-hybrid), MED4 (Two-hybrid), MED4 (Two-hybrid), MED4 (Two-hybrid), CCHCR1 (Two-hybrid), CTNNBL1 (Two-hybrid), CCDC146 (Two-hybrid), USHBP1 (Two-hybrid), IFT20 (Two-hybrid)

ESM2 similar proteins: A1Y2B7, A2Y040, A2ZIW7, A5YVF1, B1Q3J6, C0RWW9, F4HY56, F4I9Q5, F4K493, F4KFC7, O23273, O82259, P34881, Q058N0, Q10PC5, Q2QWE9, Q5BPT4, Q6AVZ9, Q6NPP4, Q75LH6, Q7X6Y7, Q7XHR2, Q7Y1I7, Q84N38, Q8GSA7, Q8GYU3, Q8L7S5, Q8LMR2, Q8LRK9, Q93ZB7, Q94B71, Q9C810, Q9FFH1, Q9FIE3, Q9FYG2, Q9LDX1, Q9LHF5, Q9LI74, Q9LMH6, Q9LUB7

Diamond homologs: Q177A7, Q23523, Q3SYZ9, Q561Q8, Q561X3, Q5M8Y7, Q5XG48, Q621Z7, Q7QH62, Q9CQA5, Q9NPJ6, Q9VS38

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
MED4	“form complex”	“Core mediator complex”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 108 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	9	25.3×	5e-09
Loss of Nlp from mitotic centrosomes	10	22.7×	2e-09
Loss of proteins required for interphase microtubule organization from the centrosome	10	22.7×	2e-09
AURKA Activation by TPX2	10	21.8×	2e-09
Anchoring of the basal body to the plasma membrane	13	21.0×	2e-11
RSV-host interactions	9	20.1×	3e-08
Adipogenesis	9	20.1×	3e-08
Recruitment of mitotic centrosome proteins and complexes	10	19.4×	6e-09

GO biological processes:

GO term	Partners	Fold	FDR
centriole replication	5	40.7×	1e-05
positive regulation of transcription elongation by RNA polymerase II	7	23.4×	5e-06
RNA polymerase II preinitiation complex assembly	7	21.1×	5e-06
positive regulation of transcription initiation by RNA polymerase II	7	21.1×	5e-06
cilium assembly	11	9.0×	5e-06
intracellular protein localization	6	7.0×	8e-03
cell division	11	5.6×	3e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	28
Likely benign	0
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

783 predictions. Top by Δscore:

Variant	Effect	Δscore
13:48077309:CAT:C	acceptor_gain	1.0000
13:48077311:TCT:T	acceptor_loss	1.0000
13:48077312:C:CC	acceptor_gain	1.0000
13:48077312:C:T	acceptor_loss	1.0000
13:48077313:T:A	acceptor_loss	1.0000
13:48079838:CATTA:C	donor_loss	1.0000
13:48079839:ATTAC:A	donor_loss	1.0000
13:48079840:TTACC:T	donor_loss	1.0000
13:48079841:TA:T	donor_loss	1.0000
13:48079842:A:AG	donor_loss	1.0000
13:48079843:CCT:C	donor_loss	1.0000
13:48079854:T:TA	donor_gain	1.0000
13:48079972:TCCC:T	acceptor_gain	1.0000
13:48079973:CCC:C	acceptor_gain	1.0000
13:48079973:CCCC:C	acceptor_gain	1.0000
13:48079974:CC:C	acceptor_gain	1.0000
13:48079974:CCC:C	acceptor_gain	1.0000
13:48079974:CCCT:C	acceptor_loss	1.0000
13:48079975:CC:C	acceptor_gain	1.0000
13:48079975:CCTAA:C	acceptor_loss	1.0000
13:48079976:C:CC	acceptor_gain	1.0000
13:48079976:CTAAA:C	acceptor_loss	1.0000
13:48079977:T:C	acceptor_loss	1.0000
13:48081639:GTTTA:G	donor_loss	1.0000
13:48081640:TTTAC:T	donor_loss	1.0000
13:48081641:TTA:T	donor_loss	1.0000
13:48081642:TACCT:T	donor_loss	1.0000
13:48081643:A:T	donor_loss	1.0000
13:48081646:TGGA:T	donor_gain	1.0000
13:48086276:ACTT:A	donor_loss	1.0000

AlphaMissense

1772 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
13:48079930:C:T	G185E	1.000
13:48079939:A:C	M182R	1.000
13:48079939:A:G	M182T	1.000
13:48079954:G:T	P177Q	1.000
13:48079955:G:A	P177S	1.000
13:48079955:G:T	P177T	1.000
13:48079958:A:C	Y176D	1.000
13:48079960:G:T	P175H	1.000
13:48079961:G:A	P175S	1.000
13:48079962:T:A	R174S	1.000
13:48079962:T:G	R174S	1.000
13:48079963:C:G	R174T	1.000
13:48081652:C:A	W167C	1.000
13:48081652:C:G	W167C	1.000
13:48081654:A:G	W167R	1.000
13:48081654:A:T	W167R	1.000
13:48081665:G:T	A163D	1.000
13:48081685:A:C	S156R	1.000
13:48081685:A:T	S156R	1.000
13:48081687:T:G	S156R	1.000
13:48081689:A:C	I155S	1.000
13:48081698:G:T	A152E	1.000
13:48081699:C:G	A152P	1.000
13:48083410:C:G	A128P	1.000
13:48083421:G:T	A124D	1.000
13:48086283:A:G	L121P	1.000
13:48086296:C:G	A117P	1.000
13:48086304:A:G	L114P	1.000
13:48086316:A:G	L110P	1.000
13:48079931:C:G	G185R	0.999

dbSNP variants (sampled 300 via entrez): RS1000198369 (13:48082217 G>A), RS1000532691 (13:48080592 A>G), RS1000557701 (13:48093142 G>A), RS1000586458 (13:48080320 C>T), RS1000586691 (13:48077402 T>G), RS1000844778 (13:48088786 G>C), RS1001514401 (13:48086217 G>A,C,T), RS1001643939 (13:48087028 A>G), RS1001665 (13:48090837 G>A), RS1001749656 (13:48081890 T>A), RS1001802134 (13:48081478 T>A), RS1001833680 (13:48091991 C>T), RS1001870556 (13:48080509 C>A,G), RS1002096498 (13:48080290 G>A,C), RS1002249498 (13:48075778 T>C)

Disease associations

OMIM: gene MIM:605718 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST006201_2	Thiopurine-induced leukopenia in inflammatory bowel disease	1.000000e-33
GCST006204_1	Thiopurine-induced severe leukopenia in inflammatory bowel disease	1.000000e-08
GCST006205_1	Thiopurine-induced acute severe leukopenia in inflammatory bowel disease	1.000000e-08
GCST006206_5	Thiopurine-induced alopecia in inflammatory bowel disease	4.000000e-29
GCST006207_1	Thiopurine-induced severe alopecia in inflammatory bowel disease	1.000000e-08
GCST007229_1	Thiopurine-induced early leukopenia in Crohn’s disease	5.000000e-94
GCST010916_20	Proportion of activated microglia (inferior temporal cortex)	3.000000e-06

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB clinical annotations

1 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs73189762	Dosage	3	mercaptopurine

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs73189762	MED4	3	4.75	1	mercaptopurine

CTD chemical–gene interactions

26 total (human), top 26 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol F	affects cotreatment, increases expression	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
mono-(2-ethylhexyl)phthalate	decreases expression	1
sodium arsenite	increases reaction, affects binding	1
nickel sulfate	decreases expression	1
3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-ol	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Temozolomide	increases expression	1
Air Pollutants	increases abundance, decreases expression	1
Aspirin	increases expression	1
Atrazine	decreases expression	1
Benzo(a)pyrene	increases methylation	1
Dexamethasone	affects cotreatment, increases expression	1
Indomethacin	affects cotreatment, increases expression	1
Plant Extracts	affects cotreatment, increases expression	1
Potassium Dichromate	decreases expression	1
Smoke	decreases expression	1
Zinc	decreases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1
Cyclosporine	decreases expression	1
Paclitaxel	affects response to substance	1
Sodium Selenite	increases expression	1
Cadmium Chloride	decreases expression	1
Lactic Acid	decreases expression	1
Particulate Matter	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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