MED24

Summary

MED24 (mediator complex subunit 24, HGNC:22963) is a protein-coding gene on chromosome 17q21.1, encoding Mediator of RNA polymerase II transcription subunit 24 (O75448). 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: 42.5% of cell lines).

This gene encodes a component of the mediator complex (also known as TRAP, SMCC, DRIP, or ARC), a transcriptional coactivator complex thought to be required for the expression of almost all genes. The mediator complex is recruited by transcriptional activators or nuclear receptors to induce gene expression, possibly by interacting with RNA polymerase II and promoting the formation of a transcriptional pre-initiation complex. Multiple transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 9862 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 156 total — 2 likely-pathogenic
• Cancer dependency (DepMap): dependent in 42.5% of screened cell lines
• MANE Select transcript: NM_014815

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:22963
Approved symbol	MED24
Name	mediator complex subunit 24
Location	17q21.1
Locus type	gene with protein product
Status	Approved
Aliases	TRAP100, KIAA0130, DRIP100, CRSP100, MED5
Ensembl gene	ENSG00000008838
Ensembl biotype	protein_coding
OMIM	607000
Entrez	9862

Gene structure

Transcript identifiers

Ensembl transcripts: 58 — 41 protein_coding, 10 retained_intron, 5 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined

ENST00000356271, ENST00000394126, ENST00000394127, ENST00000394128, ENST00000422942, ENST00000428757, ENST00000470126, ENST00000479829, ENST00000491466, ENST00000492176, ENST00000495586, ENST00000501516, ENST00000535071, ENST00000535508, ENST00000537674, ENST00000543759, ENST00000577488, ENST00000578161, ENST00000578901, ENST00000579364, ENST00000580008, ENST00000580302, ENST00000580517, ENST00000580720, ENST00000580885, ENST00000580921, ENST00000581054, ENST00000581058, ENST00000582023, ENST00000584077, ENST00000584782, ENST00000585249, ENST00000585306, ENST00000887915, ENST00000887916, ENST00000887917, ENST00000887918, ENST00000887919, ENST00000887920, ENST00000887921, ENST00000887922, ENST00000931323, ENST00000931324, ENST00000931325, ENST00000931326, ENST00000931327, ENST00000931328, ENST00000931329, ENST00000972424, ENST00000972425, ENST00000972426, ENST00000972427, ENST00000972428, ENST00000972429, ENST00000972430, ENST00000972431, ENST00000972432, ENST00000972433

RefSeq mRNA: 4 — MANE Select: NM_014815 NM_001079518, NM_001267797, NM_001330211, NM_014815

CCDS: CCDS11359, CCDS42315, CCDS82117

Canonical transcript exons

ENST00000394128 — 26 exons

Exon	Start	End
ENSE00001592309	40054361	40054408
ENSE00001863766	40019104	40019645
ENSE00003462807	40026156	40026331
ENSE00003463307	40032649	40032762
ENSE00003467767	40035117	40035349
ENSE00003476148	40032043	40032090
ENSE00003490197	40033345	40033456
ENSE00003496839	40026647	40026746
ENSE00003501803	40035722	40035795
ENSE00003503020	40022645	40022826
ENSE00003506157	40029748	40029859
ENSE00003508013	40021955	40022054
ENSE00003524699	40020273	40020353
ENSE00003540389	40053298	40053380
ENSE00003572252	40027383	40027465
ENSE00003575394	40027909	40027946
ENSE00003579007	40028826	40028968
ENSE00003591700	40019785	40019933
ENSE00003594538	40026856	40027034
ENSE00003602826	40031159	40031245
ENSE00003634216	40031538	40031620
ENSE00003643822	40033056	40033206
ENSE00003649912	40053469	40053635
ENSE00003693961	40023131	40023395
ENSE00003759863	40036116	40036154
ENSE00003791231	40022394	40022484

Expression profiles

Bgee: expression breadth ubiquitous, 263 present calls, max score 98.28.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 30.7370 / max 393.6424, expressed in 1809 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
165659	28.7481	1809
165658	0.9240	134
165656	0.6683	178
165655	0.2981	107
165657	0.0984	53

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right hemisphere of cerebellum	UBERON:0014890	98.28	gold quality
cerebellar hemisphere	UBERON:0002245	97.97	gold quality
cerebellar cortex	UBERON:0002129	97.79	gold quality
right uterine tube	UBERON:0001302	97.67	gold quality
adenohypophysis	UBERON:0002196	97.63	gold quality
apex of heart	UBERON:0002098	97.26	gold quality
left ovary	UBERON:0002119	97.19	gold quality
lower esophagus mucosa	UBERON:0035834	97.18	gold quality
gastrocnemius	UBERON:0001388	97.17	gold quality
body of uterus	UBERON:0009853	97.17	gold quality
endocervix	UBERON:0000458	97.16	gold quality
right ovary	UBERON:0002118	97.14	gold quality
ectocervix	UBERON:0012249	97.10	gold quality
mucosa of transverse colon	UBERON:0004991	97.06	gold quality
upper lobe of left lung	UBERON:0008952	96.93	gold quality
hindlimb stylopod muscle	UBERON:0004252	96.88	gold quality
right frontal lobe	UBERON:0002810	96.85	gold quality
right lobe of thyroid gland	UBERON:0001119	96.76	gold quality
left lobe of thyroid gland	UBERON:0001120	96.63	gold quality
skin of leg	UBERON:0001511	96.63	gold quality
left testis	UBERON:0004533	96.60	gold quality
metanephros cortex	UBERON:0010533	96.60	gold quality
muscle of leg	UBERON:0001383	96.59	gold quality
left uterine tube	UBERON:0001303	96.50	gold quality
skin of abdomen	UBERON:0001416	96.49	gold quality
minor salivary gland	UBERON:0001830	96.46	gold quality
body of stomach	UBERON:0001161	96.43	gold quality
tibial nerve	UBERON:0001323	96.38	gold quality
small intestine Peyer’s patch	UBERON:0003454	96.37	gold quality
ganglionic eminence	UBERON:0004023	96.37	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-MTAB-10137	no	1016.78
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

21 targeting MED24, 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-8485	100.00	77.57	4731
HSA-MIR-767-5P	99.95	70.85	993
HSA-MIR-185-3P	99.95	67.01	1743
HSA-MIR-6508-5P	99.92	70.67	2465
HSA-MIR-3941	99.86	70.54	2735
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-4530	99.69	66.47	1509
HSA-MIR-4316	99.37	65.75	1360
HSA-MIR-3125	99.14	68.49	2269
HSA-MIR-4254	99.11	65.15	1315
HSA-MIR-670-3P	99.03	68.88	2404
HSA-MIR-3916	98.99	68.04	2155
HSA-MIR-6859-5P	98.99	68.07	2049
HSA-MIR-4326	98.97	67.63	962
HSA-MIR-603	98.58	68.28	1603
HSA-MIR-6827-5P	98.46	64.88	1256
HSA-MIR-4257	97.86	68.05	1190
HSA-MIR-4433A-3P	97.75	62.82	1435
HSA-MIR-4639-3P	97.54	67.12	787
HSA-MIR-4749-5P	92.16	62.26	179
HSA-MIR-4706	89.76	60.23	156

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 42.5% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 2)

• Study identified significantly white blood cell count (WBC) level associated SNPs of three separate genes GSDMA, MED24, and PSMD3 in European continent (EA) subjects. (PMID:22037903)
• this study shows that haplotypes consisting of single nucleotide polymorphisms harboring PSMD3, CSF3 and MED24 genes are associated with asthma in Slovenian patients (PMID:27163155)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	med24	ENSDARG00000099431
mus_musculus	Med24	ENSMUSG00000017210
rattus_norvegicus	Med24	ENSRNOG00000008711
drosophila_melanogaster	MED24	FBGN0035851

Protein

Protein identifiers

Mediator of RNA polymerase II transcription subunit 24 — O75448 (reviewed: O75448)

Alternative names: Activator-recruited cofactor 100 kDa component, Cofactor required for Sp1 transcriptional activation subunit 4, Mediator complex subunit 24, Thyroid hormone receptor-associated protein 4, Thyroid hormone receptor-associated protein complex 100 kDa component, Vitamin D3 receptor-interacting protein complex 100 kDa component

All UniProt accessions (19): O75448, A0A0B4J1W0, B4DDR8, B9TX62, E9PFL1, F5GY88, F5H0M2, F5H2D6, F5H3E6, F5H5K2, H0YEG1, J3KSL1, J3KSU0, J3KTL3, J3QLC0, J3QLC2, J3QLF8, J3QLV7, J3QRH9

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 AR.

Subcellular location. Nucleus.

Tissue specificity. Ubiquitous. Abundant in skeletal muscle, heart and placenta.

Similarity. Belongs to the Mediator complex subunit 24 family.

Isoforms (2)

UniProt ID	Names	Canonical?
O75448-1	1	yes
O75448-2	2

RefSeq proteins (4): NP_001072986, NP_001254726, NP_001317140, NP_055630* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR021429	Mediator_Med24	Family

Pfam: PF11277

UniProt features (78 total): helix 51, short sequence motif 6, sequence conflict 6, turn 5, strand 5, modified residue 2, chain 1, sequence variant 1, splice variant 1

Structure

Experimental structures (PDB)

10 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
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-O75448-F1	84.28	0.55

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): 862, 873

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: 172 (showing top): REACTOME_TRANSCRIPTIONAL_REGULATION_OF_WHITE_ADIPOCYTE_DIFFERENTIATION, GOBP_POSITIVE_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_DN, GRAESSMANN_RESPONSE_TO_MC_AND_SERUM_DEPRIVATION_DN, AACYNNNNTTCCS_UNKNOWN, CHX10_01, PUJANA_CHEK2_PCC_NETWORK, BLALOCK_ALZHEIMERS_DISEASE_UP, OCT1_03, GOBP_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_6, GOBP_MAINTENANCE_OF_CELL_NUMBER, GOBP_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, GOBP_TRANSCRIPTION_INITIATION_AT_RNA_POLYMERASE_II_PROMOTER, TIEN_INTESTINE_PROBIOTICS_24HR_UP

GO Biological Process (6): positive regulation of transcription elongation by RNA polymerase II (GO:0032968), somatic stem cell population maintenance (GO:0035019), 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), transcription by RNA polymerase II (GO:0006366)

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 (4): nucleus (GO:0005634), nucleoplasm (GO:0005654), 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
positive regulation of transcription by RNA polymerase II	2
DNA-templated transcription	2
transcription initiation at RNA polymerase II promoter	2
nuclear receptor binding	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
stem cell population maintenance	1
regulation of DNA-templated transcription	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
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

2913 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MED24	MED14	O60244	973
MED24	MED1	Q15648	972
MED24	MED16	Q9Y2X0	940
MED24	MED15	Q96RN5	894
MED24	MED29	Q9NX70	875
MED24	MED27	Q6P2C8	872
MED24	MED23	Q9ULK4	763
MED24	MED17	Q9NVC6	756
MED24	MED6	O75586	725
MED24	PPARA	Q07869	677
MED24	MED7	O43513	668
MED24	MED10	Q9BTT4	654
MED24	MED26	O95402	640
MED24	MED12	Q93074	636
MED24	MED13	Q9UHV7	630

IntAct

136 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:2364”(proximity)	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
MED10	MED24	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
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 (303): MED24 (Affinity Capture-MS), MED24 (Affinity Capture-MS), MED24 (Affinity Capture-MS), MED24 (Affinity Capture-MS), MED24 (Affinity Capture-MS), MED24 (Affinity Capture-MS), MED24 (Affinity Capture-MS), MED1 (Co-fractionation), MED11 (Co-fractionation), MED13 (Co-fractionation), MED17 (Co-fractionation), MED19 (Co-fractionation), MED24 (Co-fractionation), MED24 (Co-fractionation), MED24 (Co-fractionation)

ESM2 similar proteins: A0JP85, A1A5H6, A2AGH6, A5GFY4, A5YKK6, B1AY13, B4KJ11, E9Q8I9, O75448, O94915, O95155, P55824, Q0KK59, Q23658, Q24134, Q2PW47, Q2QCI8, Q4V8B3, Q5F3M0, Q5RCU2, Q5RFA0, Q5TBA9, Q60PC0, Q6GLR7, Q6GYQ0, Q6PI53, Q6ZQ08, Q7ZYV9, Q80TJ1, Q80X82, Q80YV3, Q8BHR2, Q8BL99, Q8IXH7, Q8R0Z2, Q8R1A4, Q922L6, Q92797, Q93074, Q96N67

Diamond homologs: O75448, Q2PW47, Q4V8B3, Q5F3M0, Q6PI53, Q99K74, Q16X15

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
MED24	“form complex”	“Core mediator complex”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 99 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	28	78.8×	3e-46
Adipogenesis	29	64.8×	3e-45
RSV-host interactions	28	62.6×	4e-43
Regulation of lipid metabolism by PPARalpha	28	56.4×	1e-41
Transcriptional regulation of white adipocyte differentiation	28	51.9×	1e-40
Epigenetic regulation of adipogenesis genes by MLL3 and MLL4 complexes	16	49.2×	3e-22
Epigenetic regulation of gene expression by MLL3 and MLL4 complexes	16	45.0×	1e-21
Epigenetic regulation by WDR5-containing histone modifying complexes	18	39.7×	3e-23

GO biological processes:

GO term	Partners	Fold	FDR
positive regulation of transcription initiation by RNA polymerase II	27	85.3×	2e-44
positive regulation of transcription elongation by RNA polymerase II	24	84.0×	2e-39
RNA polymerase II preinitiation complex assembly	26	82.2×	2e-42
transcription initiation at RNA polymerase II promoter	8	34.8×	8e-09
somatic stem cell population maintenance	11	31.7×	6e-12
transcription by RNA polymerase II	8	6.6×	2e-03
protein ubiquitination	12	5.8×	8e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	2
Uncertain significance	113
Likely benign	4
Benign	5

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
599495	NM_014815.4(MED24):c.1247C>G (p.Thr416Ser)	Likely pathogenic
599496	NM_014815.4(MED24):c.2288G>A (p.Arg763Gln)	Likely pathogenic

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

6488 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:40026274:A:G	W623R	1.000
17:40026274:A:T	W623R	1.000
17:40026983:A:G	W528R	1.000
17:40026983:A:T	W528R	1.000
17:40029752:A:G	L421P	1.000
17:40053532:A:G	W23R	1.000
17:40053532:A:T	W23R	1.000
17:40053559:A:G	W14R	1.000
17:40053559:A:T	W14R	1.000
17:40019551:G:T	A983D	0.999
17:40019554:G:T	A982D	0.999
17:40022648:G:T	A810D	0.999
17:40026156:C:A	R662M	0.999
17:40026270:A:G	L624P	0.999
17:40026282:G:T	A620D	0.999
17:40026296:A:C	S615R	0.999
17:40026296:A:T	S615R	0.999
17:40026298:T:G	S615R	0.999
17:40026981:C:A	W528C	0.999
17:40026981:C:G	W528C	0.999
17:40027414:A:G	L500P	0.999
17:40027420:A:G	L498P	0.999
17:40027422:G:C	F497L	0.999
17:40027422:G:T	F497L	0.999
17:40027424:A:G	F497L	0.999
17:40027426:G:A	S496F	0.999
17:40027426:G:T	S496Y	0.999
17:40027427:A:G	S496P	0.999
17:40027432:T:A	D494V	0.999
17:40027432:T:G	D494A	0.999

dbSNP variants (sampled 300 via entrez): RS1000016615 (17:40039670 G>A), RS1000031474 (17:40045902 C>G,T), RS1000086558 (17:40038239 A>G), RS1000295672 (17:40025922 G>A,C), RS1000570160 (17:40021968 G>A,T), RS1000728246 (17:40021465 G>A), RS1000752991 (17:40020608 G>A), RS1000814063 (17:40045664 A>T), RS1000987415 (17:40052508 A>G), RS1001005155 (17:40052710 T>C,G), RS1001117190 (17:40045787 G>GT), RS1001147274 (17:40047429 A>C), RS1001148262 (17:40045549 G>A,C), RS1001279511 (17:40046021 C>T), RS1001366668 (17:40051960 A>T)

Disease associations

OMIM: gene MIM:607000 | 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

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression, increases methylation	3
sodium arsenite	decreases expression, increases expression	2
(+)-JQ1 compound	decreases expression	2
p-Chloromercuribenzoic Acid	decreases expression, affects cotreatment	2
Particulate Matter	affects cotreatment, increases abundance, increases expression	2
FR900359	affects phosphorylation	1
dicrotophos	increases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	affects cotreatment, decreases methylation	1
beta-lapachone	decreases expression, increases expression	1
di-n-butylphosphoric acid	affects 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	affects cotreatment, decreases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Acetaminophen	decreases expression	1
Caffeine	affects phosphorylation	1
Doxorubicin	decreases expression	1
Gasoline	increases abundance, increases expression, affects cotreatment	1
Ivermectin	decreases expression	1
Nicotine	increases expression	1
Polycyclic Aromatic Hydrocarbons	affects cotreatment, increases abundance, increases expression	1
Quercetin	increases phosphorylation	1
Selenium	increases expression	1
Thiram	decreases expression	1
Vanadates	decreases expression	1
Cyclosporine	decreases expression	1
Palmitic Acid	decreases phosphorylation	1
Copper Sulfate	decreases expression	1
1-Butanol	increases abundance, increases expression, affects cotreatment	1

Clinical trials (associated diseases)

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