MED6

Summary

MED6 (mediator complex subunit 6, HGNC:19970) is a protein-coding gene on chromosome 14q24.2, encoding Mediator of RNA polymerase II transcription subunit 6 (O75586). 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).

Enables transcription coactivator activity and transcription coactivator binding activity. Acts upstream of or within positive regulation of transcription by RNA polymerase II. Located in nucleoplasm. Part of core mediator complex and mediator complex.

Source: NCBI Gene 10001 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 33 total
• Cancer dependency (DepMap): dependent in 98.8% of screened cell lines (common-essential)
• MANE Select transcript: NM_005466

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19970
Approved symbol	MED6
Name	mediator complex subunit 6
Location	14q24.2
Locus type	gene with protein product
Status	Approved
Aliases	NY-REN-28
Ensembl gene	ENSG00000133997
Ensembl biotype	protein_coding
OMIM	602984
Entrez	10001

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 7 protein_coding, 6 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000256379, ENST00000430055, ENST00000440435, ENST00000553523, ENST00000553611, ENST00000554870, ENST00000554963, ENST00000555296, ENST00000556044, ENST00000556423, ENST00000556495, ENST00000615788, ENST00000934104, ENST00000934105

RefSeq mRNA: 4 — MANE Select: NM_005466 NM_001284209, NM_001284210, NM_001284211, NM_005466

CCDS: CCDS61483, CCDS61484, CCDS73649, CCDS9805

Canonical transcript exons

ENST00000256379 — 8 exons

Exon	Start	End
ENSE00001094575	70583221	70584943
ENSE00003502180	70600616	70600655
ENSE00003542429	70592880	70592988
ENSE00003613323	70585756	70585783
ENSE00003629484	70591266	70591381
ENSE00003650720	70593296	70593378
ENSE00003664336	70596611	70596702
ENSE00003688229	70597618	70597777

Expression profiles

Bgee: expression breadth ubiquitous, 265 present calls, max score 96.20.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 30.7866 / max 592.0902, expressed in 1804 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
143919	30.7866	1804

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
calcaneal tendon	UBERON:0003701	96.20	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	93.26	gold quality
adrenal tissue	UBERON:0018303	91.85	gold quality
islet of Langerhans	UBERON:0000006	91.03	gold quality
monocyte	CL:0000576	90.32	gold quality
mononuclear cell	CL:0000842	90.20	gold quality
leukocyte	CL:0000738	90.16	gold quality
tendon	UBERON:0000043	89.99	gold quality
skin of leg	UBERON:0001511	89.82	gold quality
skin of abdomen	UBERON:0001416	89.54	gold quality
ganglionic eminence	UBERON:0004023	89.01	gold quality
hindlimb stylopod muscle	UBERON:0004252	88.98	gold quality
gastrocnemius	UBERON:0001388	88.93	gold quality
muscle of leg	UBERON:0001383	88.81	gold quality
rectum	UBERON:0001052	88.62	gold quality
oocyte	CL:0000023	88.60	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	88.56	gold quality
ectocervix	UBERON:0012249	88.55	gold quality
left ovary	UBERON:0002119	88.43	gold quality
zone of skin	UBERON:0000014	88.36	gold quality
granulocyte	CL:0000094	88.12	gold quality
cortical plate	UBERON:0005343	88.11	gold quality
descending thoracic aorta	UBERON:0002345	87.96	gold quality
esophagus mucosa	UBERON:0002469	87.69	gold quality
tibial nerve	UBERON:0001323	87.64	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	87.56	gold quality
body of uterus	UBERON:0009853	87.55	gold quality
thoracic aorta	UBERON:0001515	87.53	gold quality
colonic epithelium	UBERON:0000397	87.52	gold quality
ascending aorta	UBERON:0001496	87.49	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.31

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

102 targeting MED6, 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-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-574-5P	100.00	66.01	989
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548AB	99.95	71.31	3488
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
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AP-5P	99.94	71.14	3489
HSA-MIR-548AQ-5P	99.94	71.34	3426
HSA-MIR-548AR-5P	99.94	71.28	3515
HSA-MIR-548AS-5P	99.94	71.22	3482
HSA-MIR-548AU-5P	99.94	71.24	3488
HSA-MIR-548AY-5P	99.94	71.23	3502

Functional genomics

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

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	med6	ENSDARG00000034734
mus_musculus	Med6	ENSMUSG00000002679
rattus_norvegicus	Med6	ENSRNOG00000006976
drosophila_melanogaster	MED6	FBGN0024330
caenorhabditis_elegans		WBGENE00003164

Protein

Protein identifiers

Mediator of RNA polymerase II transcription subunit 6 — O75586 (reviewed: O75586)

Alternative names: Activator-recruited cofactor 33 kDa component, Mediator complex subunit 6, Renal carcinoma antigen NY-REN-28

All UniProt accessions (3): A0A087WYL7, O75586, G3V4A5

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. Interacts with CTNNB1 and GLI3.

Subcellular location. Nucleus.

Similarity. Belongs to the Mediator complex subunit 6 family.

Isoforms (3)

UniProt ID	Names	Canonical?
O75586-1	1	yes
O75586-2	2
O75586-3	3

RefSeq proteins (4): NP_001271138, NP_001271139, NP_001271140, NP_005457* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007018	Mediator_Med6	Family
IPR016820	Mediator_Med6_met/pln	Family
IPR038566	Mediator_Med6_sf	Homologous_superfamily

Pfam: PF04934

UniProt features (30 total): strand 10, helix 6, sequence conflict 4, turn 2, modified residue 2, splice variant 2, chain 1, region of interest 1, compositionally biased region 1, cross-link 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-O75586-F1	75.84	0.50

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 (3): 236, 241, 208

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: 189 (showing top): REACTOME_TRANSCRIPTIONAL_REGULATION_OF_WHITE_ADIPOCYTE_DIFFERENTIATION, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, YAGI_AML_WITH_INV_16_TRANSLOCATION, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, ATACCTC_MIR202, GOBP_POSITIVE_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, MENSE_HYPOXIA_UP, DACOSTA_UV_RESPONSE_VIA_ERCC3_UP, BROWNE_HCMV_INFECTION_16HR_UP, RODRIGUES_NTN1_TARGETS_DN, PUJANA_CHEK2_PCC_NETWORK, chr14q24, WANG_LMO4_TARGETS_DN, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_INITIATION

GO Biological Process (7): regulation of transcription by RNA polymerase II (GO:0006357), protein ubiquitination (GO:0016567), positive regulation of transcription elongation by RNA polymerase II (GO:0032968), somatic stem cell population maintenance (GO:0035019), positive regulation of transcription by RNA polymerase II (GO:0045944), RNA polymerase II preinitiation complex assembly (GO:0051123), positive regulation of transcription initiation by RNA polymerase II (GO:0060261)

GO Molecular Function (6): transcription coactivator binding (GO:0001223), DNA binding (GO:0003677), transcription coactivator activity (GO:0003713), ubiquitin protein ligase activity (GO:0061630), transcription coregulator activity (GO:0003712), protein binding (GO:0005515)

GO Cellular Component (6): ubiquitin ligase complex (GO:0000151), 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
transcription by RNA polymerase II	2
positive regulation of transcription by RNA polymerase II	2
positive regulation of DNA-templated transcription	2
transcription initiation at RNA polymerase II promoter	2
cellular anatomical structure	2
regulation of DNA-templated transcription	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
stem cell population maintenance	1
regulation of transcription 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
transcription coregulator binding	1
nucleic acid binding	1
transcription coregulator activity	1
ubiquitin-protein transferase activity	1
ubiquitin-like protein ligase activity	1
transcription regulator activity	1
binding	1
intracellular protein-containing complex	1
transferase complex	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

1662 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MED6	MED22	Q15528	996
MED6	MED17	Q9NVC6	995
MED6	MED14	O60244	995
MED6	MED18	Q9BUE0	995
MED6	MED11	Q9P086	994
MED6	MED8	Q96G25	993
MED6	MED20	Q9H944	992
MED6	MED7	O43513	986
MED6	MED21	Q13503	981
MED6	MED10	Q9BTT4	964
MED6	CDK8	P49336	948
MED6	CCNC	P24863	929
MED6	MED30	Q96HR3	892
MED6	MED31	Q9Y3C7	876
MED6	MED4	Q9NPJ6	852

IntAct

149 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
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
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
MED18	MED19	psi-mi:“MI:0914”(association)	0.840
MED31	MED19	psi-mi:“MI:0914”(association)	0.840

BioGRID (276): MED6 (Affinity Capture-MS), MED6 (Affinity Capture-MS), MED6 (Affinity Capture-MS), MED6 (Affinity Capture-MS), MED6 (Affinity Capture-MS), MED10 (Co-fractionation), MED11 (Co-fractionation), MED12 (Co-fractionation), MED14 (Co-fractionation), MED15 (Co-fractionation), MED16 (Co-fractionation), MED17 (Co-fractionation), MED18 (Co-fractionation), MED19 (Co-fractionation), MED24 (Co-fractionation)

ESM2 similar proteins: A1DL98, A4UTQ2, C1IWT1, C5IY45, D3YT16, E9P860, O04407, O36407, O59835, O75586, O88677, P15130, P24433, P33334, P40744, P40745, P45896, P50615, P52351, P70340, P97588, Q03373, Q06616, Q09424, Q11103, Q11107, Q14201, Q15797, Q19863, Q1JQA2, Q21733, Q2NL37, Q2U6N1, Q3SZY9, Q4R309, Q5RD94, Q6AX58, Q6IQ63, Q7T2A3, Q87042

Diamond homologs: A2R4I0, A3LQ10, O75586, P38782, Q0CH76, Q1E3Z7, Q2U9E7, Q3SZY9, Q4PHA6, Q4WDH9, Q5A2Z1, Q5AYT1, Q5RD94, Q60WM1, Q6BIH7, Q6C3T0, Q6CTT6, Q6FW12, Q6IQ63, Q75EY3, Q7Q107, Q8SWN5, Q921D4, Q9HED8, Q9N337, Q9US45, F4IXJ7, P0CO74, P0CO75, Q54PN3, Q8MSX2

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
MED6	“form complex”	“Core mediator complex”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 71 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	94.9×	1e-47
Adipogenesis	29	81.0×	1e-48
RSV-host interactions	27	75.4×	1e-44
Regulation of lipid metabolism by PPARalpha	28	70.5×	2e-45
FGFR2 mutant receptor activation	5	68.0×	1e-07
Transcriptional regulation of white adipocyte differentiation	29	67.2×	3e-46
Epigenetic regulation of adipogenesis genes by MLL3 and MLL4 complexes	15	57.7×	5e-22
Signaling by FGFR2 IIIa TM	5	53.7×	4e-07

GO biological processes:

GO term	Partners	Fold	FDR
positive regulation of transcription elongation by RNA polymerase II	23	111.6×	4e-41
RNA polymerase II preinitiation complex assembly	24	105.2×	4e-42
positive regulation of transcription initiation by RNA polymerase II	24	105.2×	4e-42
transcription initiation at RNA polymerase II promoter	8	48.3×	3e-10
somatic stem cell population maintenance	10	40.0×	5e-12
transcription by RNA polymerase II	9	10.2×	1e-05
protein ubiquitination	14	9.3×	1e-08

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	18
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1442 predictions. Top by Δscore:

Variant	Effect	Δscore
14:70591382:C:CC	acceptor_gain	1.0000
14:70592989:C:CC	acceptor_gain	1.0000
14:70592990:T:C	acceptor_gain	1.0000
14:70592990:T:TC	acceptor_gain	1.0000
14:70593295:CCA:C	donor_gain	1.0000
14:70593295:CCACT:C	donor_gain	1.0000
14:70593376:TAA:T	acceptor_gain	1.0000
14:70593379:C:CC	acceptor_gain	1.0000
14:70596605:TTTTA:T	donor_loss	1.0000
14:70596607:TTAC:T	donor_loss	1.0000
14:70596608:TACC:T	donor_loss	1.0000
14:70596609:ACCTT:A	donor_loss	1.0000
14:70596610:C:CG	donor_loss	1.0000
14:70596699:CTGA:C	acceptor_gain	1.0000
14:70596700:TGA:T	acceptor_gain	1.0000
14:70596703:C:CC	acceptor_gain	1.0000
14:70597616:A:AC	donor_gain	1.0000
14:70597617:C:CC	donor_gain	1.0000
14:70597692:T:TA	donor_gain	1.0000
14:70584944:C:CC	acceptor_gain	0.9900
14:70584979:A:C	acceptor_gain	0.9900
14:70592879:CCTTG:C	donor_gain	0.9900
14:70592987:AG:A	acceptor_gain	0.9900
14:70592988:GC:G	acceptor_loss	0.9900
14:70592992:G:GC	acceptor_gain	0.9900
14:70593288:ACACT:A	donor_loss	0.9900
14:70593289:CACT:C	donor_loss	0.9900
14:70593290:ACTT:A	donor_loss	0.9900
14:70593291:CT:C	donor_loss	0.9900
14:70593292:T:TC	donor_loss	0.9900

AlphaMissense

1615 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:70592907:A:G	W147R	1.000
14:70592907:A:T	W147R	1.000
14:70596634:T:G	Q84P	1.000
14:70596640:C:G	R82P	1.000
14:70596652:A:G	L78P	1.000
14:70597651:A:T	V50D	1.000
14:70597665:A:C	C45W	1.000
14:70597666:C:T	C45Y	1.000
14:70597667:A:G	C45R	1.000
14:70597702:A:G	F33S	1.000
14:70597757:A:G	W15R	1.000
14:70597757:A:T	W15R	1.000
14:70591297:A:G	L184P	0.999
14:70591306:A:G	L181P	0.999
14:70592905:C:A	W147C	0.999
14:70592905:C:G	W147C	0.999
14:70592916:C:G	G144R	0.999
14:70592916:C:T	G144R	0.999
14:70592931:A:C	Y139D	0.999
14:70592960:G:T	A129D	0.999
14:70593304:A:G	S117P	0.999
14:70593312:A:T	V114D	0.999
14:70593327:G:T	P109Q	0.999
14:70593330:G:T	A108E	0.999
14:70593345:C:A	G103V	0.999
14:70593345:C:T	G103E	0.999
14:70596628:C:G	R86P	0.999
14:70596636:C:A	K83N	0.999
14:70596636:C:G	K83N	0.999
14:70596648:G:C	F79L	0.999

dbSNP variants (sampled 300 via entrez): RS1000155325 (14:70587394 A>G), RS1000340442 (14:70592274 C>T), RS1000766839 (14:70585719 T>C), RS1000807573 (14:70599830 A>G), RS1000891915 (14:70582903 A>G,T), RS1000895206 (14:70599364 C>T), RS1001363644 (14:70598888 T>C), RS1001496849 (14:70598245 C>T), RS1001600337 (14:70590933 G>T), RS1001741131 (14:70598446 G>C), RS1001937619 (14:70582997 T>C), RS1001988756 (14:70583397 T>C), RS1002131316 (14:70588540 G>T), RS1002182656 (14:70594698 C>T), RS1002256342 (14:70594497 T>C)

Disease associations

OMIM: gene MIM:602984 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression	4
Tobacco Smoke Pollution	increases expression	2
Asbestos, Crocidolite	affects expression, decreases expression	2
TAK-243	increases sumoylation	1
dicrotophos	decreases expression	1
beauvericin	affects cotreatment, decreases expression	1
bisphenol A	affects expression	1
trichostatin A	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	decreases expression	1
cobaltous chloride	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
cylindrospermopsin	increases expression	1
CGP 52608	affects binding, increases reaction	1
enniatins	affects cotreatment, decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	decreases expression, affects cotreatment	1
jinfukang	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Leflunomide	decreases expression	1
Acetaminophen	decreases expression	1
Arsenic	affects methylation	1
Carbamazepine	affects expression	1
Diclofenac	affects expression	1
Estradiol	affects expression	1
Ethyl Methanesulfonate	increases expression	1
Methyl Methanesulfonate	increases expression	1
Phenylmercuric Acetate	affects cotreatment, decreases expression	1
Plant Extracts	affects cotreatment, increases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	1

Clinical trials (associated diseases)

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