MED30

Summary

MED30 (mediator complex subunit 30, HGNC:23032) is a protein-coding gene on chromosome 8q24.11, encoding Mediator of RNA polymerase II transcription subunit 30 (Q96HR3). 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 99.8% of cancer cell lines).

The multiprotein TRAP/Mediator complex facilitates gene expression through a wide variety of transcriptional activators. MED30 is a component of this complex that appears to be metazoan specific (Baek et al., 2002 [PubMed 11909976]).

Source: NCBI Gene 90390 — RefSeq curated summary.

At a glance

• GWAS associations: 12
• Clinical variants (ClinVar): 28 total
• Cancer dependency (DepMap): dependent in 99.8% of screened cell lines (common-essential)
• MANE Select transcript: NM_080651

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23032
Approved symbol	MED30
Name	mediator complex subunit 30
Location	8q24.11
Locus type	gene with protein product
Status	Approved
Aliases	TRAP25
Ensembl gene	ENSG00000164758
Ensembl biotype	protein_coding
OMIM	610237
Entrez	90390

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 6 protein_coding, 2 retained_intron

ENST00000297347, ENST00000519391, ENST00000519879, ENST00000522839, ENST00000884273, ENST00000920330, ENST00000965077, ENST00000965078

RefSeq mRNA: 2 — MANE Select: NM_080651 NM_001282986, NM_080651

CCDS: CCDS6323, CCDS64959

Canonical transcript exons

ENST00000297347 — 4 exons

Exon	Start	End
ENSE00001087221	117528651	117528809
ENSE00001087222	117520713	117521053
ENSE00001087223	117530723	117530827
ENSE00001087224	117539883	117540262

Expression profiles

Bgee: expression breadth ubiquitous, 255 present calls, max score 96.05.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 26.5596 / max 591.6447, expressed in 1808 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
90343	21.9216	1807
90344	3.2729	1172
90347	0.6907	301
90345	0.3440	185
90346	0.3303	158

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
oocyte	CL:0000023	96.05	gold quality
secondary oocyte	CL:0000655	93.53	gold quality
bone marrow	UBERON:0002371	91.48	gold quality
monocyte	CL:0000576	90.47	gold quality
ganglionic eminence	UBERON:0004023	90.35	gold quality
sperm	CL:0000019	90.26	gold quality
leukocyte	CL:0000738	90.26	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	90.11	gold quality
cartilage tissue	UBERON:0002418	89.66	gold quality
calcaneal tendon	UBERON:0003701	89.64	gold quality
left ovary	UBERON:0002119	89.24	gold quality
ventricular zone	UBERON:0003053	88.91	gold quality
right ovary	UBERON:0002118	88.84	gold quality
mucosa of stomach	UBERON:0001199	88.54	gold quality
granulocyte	CL:0000094	88.48	gold quality
bone marrow cell	CL:0002092	88.35	gold quality
bronchial epithelial cell	CL:0002328	88.32	gold quality
popliteal artery	UBERON:0002250	88.02	gold quality
tibial artery	UBERON:0007610	88.02	gold quality
right lung	UBERON:0002167	87.83	gold quality
aorta	UBERON:0000947	87.82	gold quality
body of uterus	UBERON:0009853	87.71	gold quality
thoracic aorta	UBERON:0001515	87.69	gold quality
ascending aorta	UBERON:0001496	87.68	gold quality
bronchus	UBERON:0002185	87.64	gold quality
tendon	UBERON:0000043	87.63	gold quality
descending thoracic aorta	UBERON:0002345	87.29	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	87.21	gold quality
endocervix	UBERON:0000458	87.00	gold quality
ovary	UBERON:0000992	86.93	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	8.57

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

28 targeting MED30, 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-548C-3P	99.99	74.01	7587
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-4778-3P	99.93	70.40	1818
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-5582-3P	99.86	72.48	4221
HSA-MIR-4495	99.82	72.08	3080
HSA-MIR-4668-5P	99.79	70.58	3782
HSA-MIR-6885-3P	99.75	70.36	3187
HSA-MIR-1179	99.71	68.70	1040
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-7154-5P	99.69	70.52	1900
HSA-MIR-543	99.52	69.03	2595
HSA-MIR-5584-5P	99.49	68.22	2814
HSA-MIR-6165	99.44	67.12	1389
HSA-MIR-4699-5P	98.99	67.50	1210
HSA-MIR-4272	98.76	68.74	1810
HSA-MIR-8060	98.61	66.93	1187
HSA-MIR-10226	98.25	66.50	811
HSA-MIR-6834-5P	96.25	64.88	823

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 99.8% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 5)

• Requirement of TRAP/mediator for both activator-independent and activator-dependent transcription in conjunction with TFIID-associated TAF(II)s. (PMID:11909976)
• analysis of a novel transcript of MED30, termed MED30 short (MED30s) generated by alternative splicing (PMID:20493979)
• Knockdown of MED30 led to reduction of the tumour parameters proliferation, migration, and invasion in the bladder cancer (BCa) cell lines. (PMID:29187445)
• MED30 seems to be involved in the progression of the renal cell carcinoma (RCC). (PMID:29661722)
• HIF1alpha and p53 Regulated MED30, a Mediator Complex Subunit, is Involved in Regulation of Glioblastoma Pathogenesis and Temozolomide Resistance. (PMID:32705436)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	med30	ENSDARG00000101115
mus_musculus	Med30	ENSMUSG00000038622
rattus_norvegicus	Med30	ENSRNOG00000004844
drosophila_melanogaster	MED30	FBGN0035149

Protein

Protein identifiers

Mediator of RNA polymerase II transcription subunit 30 — Q96HR3 (reviewed: Q96HR3)

Alternative names: Mediator complex subunit 30, TRAP/Mediator complex component TRAP25, Thyroid hormone receptor-associated protein 6, Thyroid hormone receptor-associated protein complex 25 kDa component

All UniProt accessions (1): Q96HR3

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.

Tissue specificity. Expressed in brain, heart, kidney, liver, lung, pancreas, placenta and skeletal muscle.

Similarity. Belongs to the Mediator complex subunit 30 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q96HR3-1	1	yes
Q96HR3-2	2

RefSeq proteins (2): NP_001269915, NP_542382* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR021019	Mediator_Med30_met	Family

Pfam: PF11315

UniProt features (12 total): helix 3, coiled-coil region 2, initiator methionine 1, chain 1, strand 1, region of interest 1, compositionally biased region 1, modified residue 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-Q96HR3-F1	79.33	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 (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: 159 (showing top): REACTOME_TRANSCRIPTIONAL_REGULATION_OF_WHITE_ADIPOCYTE_DIFFERENTIATION, GOBP_POSITIVE_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, MOLENAAR_TARGETS_OF_CCND1_AND_CDK4_DN, GOBP_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, WTGAAAT_UNKNOWN, GOBP_MAINTENANCE_OF_CELL_NUMBER, GOBP_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_TRANSCRIPTION_INITIATION_AT_RNA_POLYMERASE_II_PROMOTER, FISCHER_DREAM_TARGETS, GOBP_PROTEIN_DNA_COMPLEX_ORGANIZATION, GOBP_POSITIVE_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_ELONGATION, GOBP_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_ELONGATION, SENESE_HDAC3_TARGETS_DN, GOCC_RNA_POLYMERASE_II_TRANSCRIPTION_REGULATOR_COMPLEX

GO Biological Process (6): 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 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 (6): transcription coregulator activity (GO:0003712), transcription coactivator activity (GO:0003713), nuclear vitamin D receptor binding (GO:0042809), nuclear thyroid hormone receptor binding (GO:0046966), 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
nuclear receptor binding	2
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
DNA-templated transcription	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
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

1158 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MED30	MED11	Q9P086	987
MED30	MED22	Q15528	983
MED30	MED27	Q6P2C8	969
MED30	MED17	Q9NVC6	956
MED30	MED18	Q9BUE0	931
MED30	MED20	Q9H944	914
MED30	MED10	Q9BTT4	908
MED30	MED8	Q96G25	898
MED30	MED6	O75586	892
MED30	MED26	O95402	860
MED30	MED14	O60244	843
MED30	MED7	O43513	819
MED30	CDK8	P49336	805
MED30	MED29	Q9NX70	772
MED30	MED19	A0JLT2	771
MED30	MED23	Q9ULK4	771

IntAct

152 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
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
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 (199): MED30 (Two-hybrid), KRTAP10-9 (Two-hybrid), MED30 (Affinity Capture-RNA), MED30 (Affinity Capture-MS), MED30 (Affinity Capture-MS), MED30 (Affinity Capture-MS), MED30 (Affinity Capture-MS), MED30 (Affinity Capture-MS), MED30 (Affinity Capture-MS), MED11 (Co-fractionation), MED27 (Co-fractionation), MED30 (Proximity Label-MS), MED30 (Proximity Label-MS), MED30 (Proximity Label-MS), MED30 (Affinity Capture-MS)

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: Q0IHI6, Q172Y1, Q29DV9, Q2YDF2, Q6PC45, Q96HR3, Q9CQI9, Q9W0P3

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
MED30	“form complex”	“Core mediator complex”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 73 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	91.7×	9e-47
Adipogenesis	28	75.5×	5e-46
RSV-host interactions	27	72.8×	8e-44
Regulation of lipid metabolism by PPARalpha	27	65.6×	2e-42
Transcriptional regulation of white adipocyte differentiation	27	60.4×	2e-41
Epigenetic regulation of adipogenesis genes by MLL3 and MLL4 complexes	15	55.7×	1e-21
Signaling by FGFR2 IIIa TM	5	51.8×	5e-07
Epigenetic regulation of gene expression by MLL3 and MLL4 complexes	15	50.9×	5e-21

GO biological processes:

GO term	Partners	Fold	FDR
positive regulation of transcription elongation by RNA polymerase II	23	100.3×	9e-40
RNA polymerase II preinitiation complex assembly	24	94.5×	1e-40
positive regulation of transcription initiation by RNA polymerase II	24	94.5×	1e-40
transcription initiation at RNA polymerase II promoter	8	43.4×	9e-10
somatic stem cell population maintenance	10	35.9×	2e-11
transcription by RNA polymerase II	8	8.2×	3e-04
protein ubiquitination	12	7.2×	7e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

28 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	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

544 predictions. Top by Δscore:

Variant	Effect	Δscore
8:117521050:GCAG:G	donor_gain	1.0000
8:117521051:CAGG:C	donor_loss	1.0000
8:117521054:G:GG	donor_gain	1.0000
8:117528635:T:A	acceptor_gain	1.0000
8:117528644:T:A	acceptor_gain	1.0000
8:117528647:TAAG:T	acceptor_loss	1.0000
8:117528648:A:AG	acceptor_gain	1.0000
8:117528648:AAGCT:A	acceptor_gain	1.0000
8:117528649:A:C	acceptor_loss	1.0000
8:117528649:A:G	acceptor_gain	1.0000
8:117528649:AGCT:A	acceptor_gain	1.0000
8:117528650:G:GG	acceptor_gain	1.0000
8:117528650:GCT:G	acceptor_gain	1.0000
8:117528650:GCTG:G	acceptor_gain	1.0000
8:117528743:G:GT	donor_gain	1.0000
8:117528808:AG:A	donor_loss	1.0000
8:117528809:GGT:G	donor_loss	1.0000
8:117528810:G:GA	donor_loss	1.0000
8:117528961:A:AG	donor_gain	1.0000
8:117530701:A:AG	acceptor_gain	1.0000
8:117530707:T:TA	acceptor_gain	1.0000
8:117530711:A:AG	acceptor_gain	1.0000
8:117530712:A:G	acceptor_gain	1.0000
8:117530721:A:AG	acceptor_gain	1.0000
8:117530722:G:GG	acceptor_gain	1.0000
8:117530722:GC:G	acceptor_gain	1.0000
8:117530722:GCA:G	acceptor_gain	1.0000
8:117530816:G:GT	donor_gain	1.0000
8:117530824:TAAA:T	donor_gain	1.0000
8:117530827:AGTG:A	donor_loss	1.0000

AlphaMissense

1170 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:117520985:G:A	G37R	1.000
8:117520985:G:C	G37R	1.000
8:117520985:G:T	G37W	1.000
8:117520986:G:A	G37E	1.000
8:117520989:A:C	Q38P	1.000
8:117521030:T:C	F52L	1.000
8:117521032:C:A	F52L	1.000
8:117521032:C:G	F52L	1.000
8:117528748:T:C	L92P	1.000
8:117539908:T:C	L156P	1.000
8:117539938:T:C	L166P	1.000
8:117520974:T:C	L33P	0.999
8:117520976:T:C	C34R	0.999
8:117520978:C:G	C34W	0.999
8:117520980:G:C	R35P	0.999
8:117520986:G:T	G37V	0.999
8:117520998:T:A	V41E	0.999
8:117521016:G:C	R47P	0.999
8:117521040:T:C	L55P	0.999
8:117528706:T:C	L78P	0.999
8:117528718:T:C	L82P	0.999
8:117528727:T:C	L85P	0.999
8:117539887:T:C	L149P	0.999
8:117539932:G:C	R164P	0.999
8:117520977:G:A	C34Y	0.998
8:117521001:A:C	Q42P	0.998
8:117521007:T:A	I44N	0.998
8:117521030:T:A	F52I	0.998
8:117521043:G:T	R56M	0.998
8:117528654:C:A	P61T	0.998

dbSNP variants (sampled 300 via entrez): RS1000079450 (8:117519922 G>A), RS1000452794 (8:117519603 A>C), RS1000496949 (8:117522043 T>C), RS1000581564 (8:117539940 A>C,G), RS1000681794 (8:117526944 A>G), RS1000838823 (8:117533579 C>T), RS1000944124 (8:117525567 C>A,T), RS1001280521 (8:117527068 A>G), RS1001421226 (8:117540209 G>T), RS1001451270 (8:117526376 T>C), RS1001521845 (8:117533340 T>C), RS1001630083 (8:117539822 C>A,T), RS1001891338 (8:117535326 T>C), RS1001972594 (8:117527558 A>G), RS1002037354 (8:117526072 T>C)

Disease associations

OMIM: gene MIM:610237 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

12 associations (top):

Study	Trait	p-value
GCST001456_3	Kawasaki disease	5.000000e-07
GCST002828_29	Urate levels in obese individuals	8.000000e-06
GCST004009_1	Leprosy	3.000000e-11
GCST005183_3	Common carotid intima-media thickness	8.000000e-07
GCST005184_5	Common carotid intima-media thickness in HIV infection	3.000000e-07
GCST005758_2	Dimensional psychopathology (Arousal)	8.000000e-07
GCST005877_1	Fasting blood glucose	2.000000e-14
GCST006186_6	Systolic blood pressure x smoking status (current vs non-current) interaction (1df test)	2.000000e-09
GCST006195_87	Systolic blood pressure x smoking status (current vs non-current) interaction (2df test)	2.000000e-09
GCST006275_4	Vestibular neuritis	4.000000e-08
GCST007820_1	Facial attractiveness (female raters)	4.000000e-07
GCST010169_3	Midgestational total 25-hydroxyvitamin D levels (fetal genetic effect)	2.000000e-06

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0004531	urate measurement
EFO:0009099	arousal domain measurement
EFO:0006335	systolic blood pressure
EFO:0006527	smoking status measurement
EFO:0009892	facial attractiveness measurement
EFO:0007959	fetal genotype effect measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
trichostatin A	decreases expression, affects cotreatment	3
Valproic Acid	affects expression, decreases expression, increases expression	3
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Tobacco Smoke Pollution	affects expression, increases expression	2
Particulate Matter	increases abundance, decreases expression	2
GSK-J4	increases expression	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
beta-methylcholine	affects expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	affects cotreatment, decreases expression	1
Temozolomide	increases expression	1
Leflunomide	increases expression	1
Air Pollutants	increases abundance, decreases expression	1
Carbamazepine	affects expression	1
Cisplatin	affects cotreatment, decreases expression	1
Diclofenac	affects expression	1
Hydrogen Peroxide	affects expression	1
Potassium Dichromate	increases expression	1
Quercetin	decreases expression	1
Dihydrotestosterone	increases expression	1
Tetrachlorodibenzodioxin	decreases expression	1
Tretinoin	decreases expression	1
Zinc	decreases expression	1
Okadaic Acid	decreases expression	1
Copper Sulfate	decreases expression	1

Clinical trials (associated diseases)

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