MED31

Summary

MED31 (mediator complex subunit 31, HGNC:24260) is a protein-coding gene on chromosome 17p13.1, encoding Mediator of RNA polymerase II transcription subunit 31 (Q9Y3C7). 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 95.9% of cancer cell lines).

Predicted to enable transcription coregulator activity and ubiquitin protein ligase activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within limb development and negative regulation of fibroblast proliferation. Located in nucleus. Part of core mediator complex.

Source: NCBI Gene 51003 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 23 total
• Cancer dependency (DepMap): dependent in 95.9% of screened cell lines (common-essential)
• MANE Select transcript: NM_016060

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24260
Approved symbol	MED31
Name	mediator complex subunit 31
Location	17p13.1
Locus type	gene with protein product
Status	Approved
Aliases	CGI-125, Soh1
Ensembl gene	ENSG00000108590
Ensembl biotype	protein_coding
OMIM	620492
Entrez	51003

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 3 protein_coding, 1 retained_intron

ENST00000225728, ENST00000574128, ENST00000575197, ENST00000575519

RefSeq mRNA: 1 — MANE Select: NM_016060 NM_016060

CCDS: CCDS11078

Canonical transcript exons

ENST00000225728 — 4 exons

Exon	Start	End
ENSE00001149797	6643311	6644659
ENSE00003558993	6650356	6650433
ENSE00003622585	6649982	6650078
ENSE00003843496	6651501	6651605

Expression profiles

Bgee: expression breadth ubiquitous, 252 present calls, max score 94.72.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 19.8173 / max 217.0966, expressed in 1805 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
164061	19.0751	1804
164059	0.4118	112
164060	0.3304	153

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lower esophagus mucosa	UBERON:0035834	94.72	gold quality
buccal mucosa cell	CL:0002336	94.25	gold quality
bronchial epithelial cell	CL:0002328	91.64	gold quality
adrenal tissue	UBERON:0018303	91.53	gold quality
adenohypophysis	UBERON:0002196	91.03	gold quality
pituitary gland	UBERON:0000007	90.66	gold quality
sperm	CL:0000019	90.60	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	90.23	gold quality
esophagus squamous epithelium	UBERON:0006920	90.16	gold quality
islet of Langerhans	UBERON:0000006	90.09	gold quality
prefrontal cortex	UBERON:0000451	90.06	gold quality
right adrenal gland	UBERON:0001233	90.04	gold quality
esophagus mucosa	UBERON:0002469	89.95	gold quality
right adrenal gland cortex	UBERON:0035827	89.80	gold quality
nucleus accumbens	UBERON:0001882	89.57	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	89.41	gold quality
right uterine tube	UBERON:0001302	89.25	gold quality
left adrenal gland	UBERON:0001234	89.24	gold quality
caudate nucleus	UBERON:0001873	88.74	gold quality
left adrenal gland cortex	UBERON:0035825	88.71	gold quality
oral cavity	UBERON:0000167	88.69	gold quality
right frontal lobe	UBERON:0002810	88.64	gold quality
heart right ventricle	UBERON:0002080	88.60	gold quality
anterior cingulate cortex	UBERON:0009835	88.50	gold quality
adrenal cortex	UBERON:0001235	88.44	gold quality
endothelial cell	CL:0000115	88.36	gold quality
cingulate cortex	UBERON:0003027	88.35	gold quality
adrenal gland	UBERON:0002369	88.21	gold quality
gingival epithelium	UBERON:0001949	88.07	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	87.96	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.94

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

45 targeting MED31, 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-4692	100.00	67.32	2066
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-1-3P	99.93	72.35	1914
HSA-MIR-206	99.93	72.50	1893
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-613	99.91	71.50	1710
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-202-5P	99.78	67.65	991
HSA-MIR-5002-5P	99.76	70.84	1763
HSA-MIR-4524A-3P	99.72	66.85	2406
HSA-MIR-548M	99.70	68.87	1749
HSA-MIR-518A-5P	99.70	69.01	2209
HSA-MIR-527	99.70	69.01	2209
HSA-MIR-548AU-3P	99.70	68.22	1373
HSA-MIR-7152-5P	99.60	69.33	2094
HSA-MIR-4276	99.56	67.66	2514
HSA-MIR-8064	99.45	66.92	875
HSA-MIR-4666A-5P	99.41	69.72	1887
HSA-MIR-330-3P	99.41	69.95	2521
HSA-MIR-6739-3P	99.22	68.84	1843
HSA-MIR-12135	98.99	70.26	1814
HSA-MIR-3127-3P	98.94	67.34	1055
HSA-MIR-6756-3P	98.94	66.79	1104
HSA-MIR-4451	98.82	68.17	1455
HSA-MIR-4536-5P	98.47	64.39	657

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 95.9% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 1)

• Results show that miR-1 is downregulated in osteosarcoma cells but both of its targets Med1 and Med31 were overexpressed suggesting that MiR-1 plays an important role on the proliferation of osteosarcoma cells through regulation of Med1 and Med31. (PMID:24969180)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	med31	ENSDARG00000008020
mus_musculus	Med31	ENSMUSG00000020801
rattus_norvegicus	Med31	ENSRNOG00000014618
drosophila_melanogaster	MED31	FBGN0037262
caenorhabditis_elegans	mdt-31	WBGENE00007026

Protein

Protein identifiers

Mediator of RNA polymerase II transcription subunit 31 — Q9Y3C7 (reviewed: Q9Y3C7)

Alternative names: Mediator complex subunit 31, Mediator complex subunit SOH1

All UniProt accessions (3): Q9Y3C7, I3L0P8, I3L2J1

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 31 family.

RefSeq proteins (1): NP_057144* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR008831	Mediator_Med31	Family
IPR038089	Med31_sf	Homologous_superfamily

Pfam: PF05669

UniProt features (13 total): helix 9, initiator methionine 1, chain 1, modified residue 1, strand 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-Q9Y3C7-F1	93.63	0.88

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): 2

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: 116 (showing top): REACTOME_TRANSCRIPTIONAL_REGULATION_OF_WHITE_ADIPOCYTE_DIFFERENTIATION, BENPORATH_ES_WITH_H3K27ME3, GOBP_POSITIVE_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, GOBP_NEGATIVE_REGULATION_OF_FIBROBLAST_PROLIFERATION, GOBP_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, GOBP_APPENDAGE_DEVELOPMENT, GOBP_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_TRANSCRIPTION_INITIATION_AT_RNA_POLYMERASE_II_PROMOTER, GOBP_PROTEIN_DNA_COMPLEX_ORGANIZATION, DEURIG_T_CELL_PROLYMPHOCYTIC_LEUKEMIA_UP, GOBP_POSITIVE_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_ELONGATION, CARDOSO_RESPONSE_TO_GAMMA_RADIATION_AND_3AB, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_DN, GOBP_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_ELONGATION

GO Biological Process (8): regulation of transcription by RNA polymerase II (GO:0006357), protein ubiquitination (GO:0016567), positive regulation of transcription elongation by RNA polymerase II (GO:0032968), negative regulation of fibroblast proliferation (GO:0048147), RNA polymerase II preinitiation complex assembly (GO:0051123), limb development (GO:0060173), positive regulation of transcription initiation by RNA polymerase II (GO:0060261), regulation of DNA-templated transcription (GO:0006355)

GO Molecular Function (3): 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-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
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
negative regulation of cell population proliferation	1
fibroblast proliferation	1
regulation of fibroblast proliferation	1
transcription preinitiation complex assembly	1
appendage development	1
regulation of transcription initiation by RNA polymerase II	1
positive regulation of DNA-templated transcription initiation	1
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	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

1324 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MED31	MED10	Q9BTT4	977
MED31	MED19	A0JLT2	973
MED31	MED7	O43513	972
MED31	MED17	Q9NVC6	952
MED31	MED27	Q6P2C8	925
MED31	MED6	O75586	876
MED31	MED21	Q13503	875
MED31	MED9	Q9NWA0	873
MED31	MED14	O60244	865
MED31	MED8	Q96G25	852
MED31	MED4	Q9NPJ6	831
MED31	MED26	O95402	821
MED31	MED15	Q96RN5	821
MED31	MED16	Q9Y2X0	812
MED31	MED22	Q15528	805

IntAct

180 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
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
MED31	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 (255): MED31 (Affinity Capture-RNA), MED31 (Affinity Capture-MS), MED31 (Affinity Capture-MS), MED31 (Affinity Capture-MS), MED31 (Affinity Capture-MS), MED31 (Affinity Capture-MS), MED31 (Proximity Label-MS), MED31 (Proximity Label-MS), MED31 (Affinity Capture-MS), MED31 (Affinity Capture-MS), MED31 (Affinity Capture-MS), MED31 (Affinity Capture-MS), MED31 (Affinity Capture-MS), MED31 (Affinity Capture-MS), MED31 (Affinity Capture-MS)

ESM2 similar proteins: A0JNN3, A2AWA9, B1H2N3, B5DEN9, B5DGH9, O43242, O60941, O76031, P14685, P60228, P60229, Q05AY2, Q06364, Q07866, Q0IIL1, Q13330, Q1LUA8, Q28FE2, Q2KJ46, Q3B8M3, Q3T102, Q4QR03, Q4R6G8, Q503N9, Q5F428, Q5R7N3, Q5R8K9, Q5R8N4, Q5RAN1, Q5U2U0, Q5ZLA5, Q62599, Q641X8, Q6DH26, Q6DRI1, Q6GQA1, Q6P6Q9, Q6P7L9, Q7Z3J2, Q8K4B0

Diamond homologs: A0JNN3, P0CS74, P0CS75, P91869, Q0U957, Q17DI7, Q28FE2, Q4P308, Q4QR03, Q54NI7, Q59P87, Q61DP3, Q6BUN9, Q6CAU9, Q6DH26, Q6GQA1, Q7SF81, Q8IH24, Q8MPD6, Q8SU76, Q8VYB1, Q9CXU1, Q9USH1, Q9Y3C7, A1CL91, A1D619, A2QU71, P38633, Q0CQK7, Q1E146, Q4WYS1, Q5BAD5, Q6CUD2, Q6FR78, Q75EB3

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
MED31	“form complex”	“Core mediator complex”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 110 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	64.9×	2e-43
RSV-host interactions	28	51.5×	3e-40
Adipogenesis	28	51.5×	3e-40
Regulation of lipid metabolism by PPARalpha	28	46.4×	5e-39
Transcriptional regulation of white adipocyte differentiation	29	44.3×	1e-39
Epigenetic regulation of adipogenesis genes by MLL3 and MLL4 complexes	15	38.0×	7e-19
Epigenetic regulation of gene expression by MLL3 and MLL4 complexes	15	34.8×	3e-18
PPARA activates gene expression	28	31.1×	2e-33

GO biological processes:

GO term	Partners	Fold	FDR
positive regulation of transcription elongation by RNA polymerase II	24	70.8×	4e-37
positive regulation of transcription initiation by RNA polymerase II	26	69.3×	7e-40
RNA polymerase II preinitiation complex assembly	24	64.0×	5e-36
transcription initiation at RNA polymerase II promoter	10	36.7×	2e-11
somatic stem cell population maintenance	11	26.7×	3e-11
transcription by RNA polymerase II	10	6.9×	2e-04
protein ubiquitination	12	4.9×	6e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	17
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

379 predictions. Top by Δscore:

Variant	Effect	Δscore
17:6650354:A:AC	donor_gain	1.0000
17:6650355:C:CC	donor_gain	1.0000
17:6651496:CTCA:C	donor_loss	1.0000
17:6651497:TCA:T	donor_loss	1.0000
17:6651498:CACCT:C	donor_loss	1.0000
17:6651500:CCTGT:C	donor_gain	1.0000
17:6644672:T:C	acceptor_gain	0.9900
17:6644672:T:TC	acceptor_gain	0.9900
17:6649980:A:AC	donor_gain	0.9900
17:6649981:C:CC	donor_gain	0.9900
17:6650079:C:CC	acceptor_gain	0.9900
17:6650355:CA:C	donor_gain	0.9900
17:6650355:CAA:C	donor_gain	0.9900
17:6650430:TCATC:T	acceptor_loss	0.9900
17:6650433:TC:T	acceptor_loss	0.9900
17:6650434:C:CC	acceptor_gain	0.9900
17:6650434:C:CG	acceptor_loss	0.9900
17:6650435:T:G	acceptor_loss	0.9900
17:6651499:A:AC	donor_gain	0.9900
17:6651500:C:CC	donor_gain	0.9900
17:6650076:GAA:G	acceptor_gain	0.9800
17:6650430:TCAT:T	acceptor_gain	0.9800
17:6650431:CAT:C	acceptor_gain	0.9800
17:6650431:CATC:C	acceptor_gain	0.9800
17:6651500:CCT:C	donor_gain	0.9800
17:6650348:CAACT:C	donor_loss	0.9700
17:6650349:AACTT:A	donor_loss	0.9700
17:6650350:ACT:A	donor_loss	0.9700
17:6650351:CT:C	donor_loss	0.9700
17:6650352:TTA:T	donor_loss	0.9700

AlphaMissense

861 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:6644548:C:A	W105C	1.000
17:6644548:C:G	W105C	1.000
17:6644550:A:G	W105R	1.000
17:6644550:A:T	W105R	1.000
17:6644555:A:G	L103P	1.000
17:6644564:T:G	Q100P	1.000
17:6644600:A:G	L88P	1.000
17:6644609:C:G	R85P	1.000
17:6644627:A:G	L79P	1.000
17:6644627:A:T	L79H	1.000
17:6644630:A:G	L78P	1.000
17:6644647:A:C	C72W	1.000
17:6650013:A:G	W58R	1.000
17:6650013:A:T	W58R	1.000
17:6650072:G:T	A38D	1.000
17:6644549:C:G	W105S	0.999
17:6644561:T:G	Q101P	0.999
17:6644573:A:T	I97N	0.999
17:6644575:A:C	F96L	0.999
17:6644575:A:T	F96L	0.999
17:6644576:A:G	F96S	0.999
17:6644577:A:G	F96L	0.999
17:6644611:G:C	F84L	0.999
17:6644611:G:T	F84L	0.999
17:6644612:A:G	F84S	0.999
17:6644613:A:G	F84L	0.999
17:6644627:A:C	L79R	0.999
17:6644636:A:G	L76S	0.999
17:6644645:A:G	L73S	0.999
17:6644648:C:T	C72Y	0.999

dbSNP variants (sampled 300 via entrez): RS1000365108 (17:6644143 G>A), RS1000372565 (17:6650580 G>T), RS1000404808 (17:6649447 A>T), RS1000438972 (17:6649232 T>G), RS1000769204 (17:6650698 C>A), RS1001275454 (17:6646113 A>G), RS1001333311 (17:6644781 C>A), RS1001644748 (17:6646419 G>A,T), RS1001697114 (17:6645813 A>T), RS1002976151 (17:6645605 C>T), RS1003716778 (17:6648695 G>A), RS1004149025 (17:6650972 T>A), RS1005123870 (17:6649595 G>A), RS1005366114 (17:6650248 A>C), RS1005401129 (17:6645715 T>C)

Disease associations

OMIM: gene MIM:620492 | 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
GCST009617_2	LDL cholesterol levels x thiazide or thiazide-like diuretics use interaction	1.000000e-07

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004611	low density lipoprotein cholesterol measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

24 total (human), top 24 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression	3
sodium arsenite	increases expression	2
aristolochic acid I	increases expression	1
dicrotophos	decreases expression	1
alpha phellandrene	increases expression	1
triphenyl phosphate	affects expression	1
2,5,2’,5’-tetrachlorobiphenyl	increases expression	1
beta-lapachone	decreases expression	1
Leflunomide	decreases expression	1
Acetaminophen	increases expression	1
Air Pollutants	affects expression, increases abundance	1
Benzo(a)pyrene	increases methylation	1
Carbamazepine	affects expression	1
Diclofenac	affects expression	1
Doxorubicin	decreases expression	1
Formaldehyde	increases expression	1
Lead	affects splicing	1
Niclosamide	decreases expression	1
Ozone	affects expression, increases abundance	1
Rotenone	decreases expression	1
Thiram	increases expression	1
Vincristine	decreases expression	1
Cyclosporine	decreases expression	1
Cadmium Chloride	decreases expression	1

Clinical trials (associated diseases)

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