MED7

Summary

MED7 (mediator complex subunit 7, HGNC:2378) is a protein-coding gene on chromosome 5q33.3, encoding Mediator of RNA polymerase II transcription subunit 7 (O43513). 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: 80.0% of cell lines).

The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. Two transcript variants encoding the same protein have been found for this gene.

Source: NCBI Gene 9443 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 23 total
• Cancer dependency (DepMap): dependent in 80.0% of screened cell lines
• MANE Select transcript: NM_004270

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2378
Approved symbol	MED7
Name	mediator complex subunit 7
Location	5q33.3
Locus type	gene with protein product
Status	Approved
Aliases	CRSP33
Ensembl gene	ENSG00000155868
Ensembl biotype	protein_coding
OMIM	605045
Entrez	9443

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 4 protein_coding

ENST00000286317, ENST00000420343, ENST00000524289, ENST00000929733

RefSeq mRNA: 2 — MANE Select: NM_004270 NM_001100816, NM_004270

CCDS: CCDS4334

Canonical transcript exons

ENST00000286317 — 2 exons

Exon	Start	End
ENSE00001885748	157137424	157139448
ENSE00002116647	157142820	157142865

Expression profiles

Bgee: expression breadth ubiquitous, 293 present calls, max score 95.84.

FANTOM5 (CAGE): breadth broad, TPM avg 0.5699 / max 22.1598, expressed in 291 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
64511	9.6119	1721
64510	0.5601	284
203769	0.0098	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
choroid plexus epithelium	UBERON:0003911	95.84	gold quality
sperm	CL:0000019	95.78	gold quality
male germ cell	CL:0000015	93.71	gold quality
germinal epithelium of ovary	UBERON:0001304	93.29	gold quality
endothelial cell	CL:0000115	90.66	gold quality
calcaneal tendon	UBERON:0003701	88.99	gold quality
palpebral conjunctiva	UBERON:0001812	88.40	gold quality
nephron tubule	UBERON:0001231	87.41	gold quality
corpus epididymis	UBERON:0004359	87.29	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	87.19	gold quality
testis	UBERON:0000473	87.16	gold quality
eye	UBERON:0000970	87.08	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	87.05	gold quality
right testis	UBERON:0004534	86.95	gold quality
left testis	UBERON:0004533	86.94	gold quality
tendon	UBERON:0000043	86.41	gold quality
epithelium of nasopharynx	UBERON:0001951	86.36	gold quality
nasopharynx	UBERON:0001728	86.34	gold quality
esophagus squamous epithelium	UBERON:0006920	86.17	gold quality
visceral pleura	UBERON:0002401	86.11	gold quality
adrenal tissue	UBERON:0018303	86.03	gold quality
parietal pleura	UBERON:0002400	85.93	gold quality
pleura	UBERON:0000977	85.83	gold quality
islet of Langerhans	UBERON:0000006	85.56	gold quality
cauda epididymis	UBERON:0004360	85.47	gold quality
biceps brachii	UBERON:0001507	85.20	gold quality
mucosa of paranasal sinus	UBERON:0005030	85.20	gold quality
renal glomerulus	UBERON:0000074	85.01	gold quality
amniotic fluid	UBERON:0000173	84.99	gold quality
oocyte	CL:0000023	84.92	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.34
E-MTAB-6386	no	266.06

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): ESR2

miRNA regulators (miRDB)

31 targeting MED7, 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-499A-5P	99.98	70.79	1323
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-9-3P	99.96	70.88	2068
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-320A-3P	99.77	69.73	2107
HSA-MIR-320B	99.77	69.73	2107
HSA-MIR-320C	99.77	69.73	2107
HSA-MIR-320D	99.77	69.73	2107
HSA-MIR-4429	99.77	69.62	2111
HSA-MIR-3609	99.52	69.89	2587
HSA-MIR-548AH-5P	99.52	69.73	2626
HSA-MIR-217-5P	99.49	69.93	1419
HSA-MIR-942-5P	99.41	68.40	1977
HSA-MIR-520F-5P	99.34	70.40	1632
HSA-MIR-3606-5P	99.31	69.67	1168
HSA-MIR-6807-3P	99.15	69.23	1275
HSA-MIR-655-5P	98.74	65.93	888
HSA-MIR-7158-3P	98.46	66.45	728
HSA-MIR-6834-3P	98.16	65.77	551
HSA-MIR-1322	97.98	68.96	625
HSA-MIR-4294	97.86	65.72	1110
HSA-MIR-3129-3P	97.85	67.63	1246
HSA-MIR-5583-5P	97.85	67.61	1243
HSA-MIR-3198	97.84	65.64	579
HSA-MIR-4309	97.84	65.45	588
HSA-MIR-1289	97.46	65.37	655
HSA-MIR-509-3-5P	97.21	67.74	1517
HSA-MIR-509-5P	97.21	67.90	1512
HSA-MIR-4418	97.04	67.16	1372

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 80.0% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 2)

• MED7 is an important prognostic marker in Breast cancer, particularly in ER+luminal subtypes, associated with improved survival and warrants future functional analysis. (PMID:29588513)
• Upregulation of MED7 was associated with progression in hepatocellular carcinoma. (PMID:38073375)

Cross-species orthologs

12 orthologs

Organism	Symbol	Gene ID
danio_rerio	med7	ENSDARG00000016318
mus_musculus	Med7	ENSMUSG00000020397
rattus_norvegicus	Med7	ENSRNOG00000007053
caenorhabditis_elegans		WBGENE00018289
caenorhabditis_elegans		WBGENE00020483
caenorhabditis_elegans		WBGENE00020484
caenorhabditis_elegans		WBGENE00020487
caenorhabditis_elegans		WBGENE00020785
caenorhabditis_elegans		WBGENE00021162
caenorhabditis_elegans		WBGENE00077592
caenorhabditis_elegans		WBGENE00195168
caenorhabditis_elegans		WBGENE00206360

Paralogs (3): HAVCR1 (ENSG00000113249), HAVCR2 (ENSG00000135077), TIMD4 (ENSG00000145850)

Protein

Protein identifiers

Mediator of RNA polymerase II transcription subunit 7 — O43513 (reviewed: O43513)

Alternative names: Activator-recruited cofactor 34 kDa component, Cofactor required for Sp1 transcriptional activation subunit 9, Mediator complex subunit 7, RNA polymerase transcriptional regulation mediator subunit 7 homolog, Transcriptional coactivator CRSP33

All UniProt accessions (3): O43513, E5RIE8, Q6IAZ5

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.

Post-translational modifications. Constitutively sumoylated.

Similarity. Belongs to the Mediator complex subunit 7 family.

RefSeq proteins (2): NP_001094286, NP_004261* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR009244	Mediatior_Med7	Family
IPR037212	Med7/Med21-like	Homologous_superfamily
IPR044888	Mediatior_Med7_sf	Homologous_superfamily
IPR051669	Immune_Mod/Transcr_Coactivator	Family

Pfam: PF05983

UniProt features (12 total): helix 4, cross-link 2, chain 1, region of interest 1, compositionally biased region 1, modified residue 1, strand 1, turn 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-O43513-F1	79.81	0.41

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): 194, 185, 185

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: 175 (showing top): REACTOME_TRANSCRIPTIONAL_REGULATION_OF_WHITE_ADIPOCYTE_DIFFERENTIATION, GOBP_POSITIVE_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, ONKEN_UVEAL_MELANOMA_UP, GOBP_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, GOBP_MAINTENANCE_OF_CELL_NUMBER, GOBP_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GARY_CD5_TARGETS_DN, GOBP_TRANSCRIPTION_INITIATION_AT_RNA_POLYMERASE_II_PROMOTER, NOUZOVA_TRETINOIN_AND_H4_ACETYLATION, GOBP_PROTEIN_DNA_COMPLEX_ORGANIZATION, ACEVEDO_LIVER_CANCER_UP, GOBP_POSITIVE_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_ELONGATION, GOBP_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_ELONGATION

GO Biological Process (7): regulation of transcription by RNA polymerase II (GO:0006357), transcription initiation at RNA polymerase II promoter (GO:0006367), protein ubiquitination (GO:0016567), positive regulation of transcription elongation by RNA polymerase II (GO:0032968), somatic stem cell population maintenance (GO:0035019), RNA polymerase II preinitiation complex assembly (GO:0051123), positive regulation of transcription initiation by RNA polymerase II (GO:0060261)

GO Molecular Function (4): transcription coactivator activity (GO:0003713), ubiquitin protein ligase activity (GO:0061630), transcription coregulator activity (GO:0003712), protein binding (GO:0005515)

GO Cellular Component (7): ubiquitin ligase complex (GO:0000151), nucleus (GO:0005634), nucleoplasm (GO:0005654), transcription regulator complex (GO:0005667), mediator complex (GO:0016592), nuclear body (GO:0016604), 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
transcription initiation at RNA polymerase II promoter	2
regulation of DNA-templated transcription	1
DNA-templated transcription initiation	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
transcription preinitiation complex assembly	1
regulation of transcription initiation by RNA polymerase II	1
positive regulation of DNA-templated transcription initiation	1
transcription coregulator activity	1
positive regulation of DNA-templated transcription	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
cellular anatomical structure	1
protein-containing complex	1
core mediator complex	1
nuclear protein-containing complex	1
nucleoplasm	1
intracellular membraneless organelle	1
RNA polymerase II transcription regulator complex	1

Protein interactions and networks

STRING

1712 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MED7	MED10	Q9BTT4	996
MED7	MED21	Q13503	989
MED7	MED14	O60244	988
MED7	MED6	O75586	986
MED7	MED31	Q9Y3C7	972
MED7	MED27	Q6P2C8	963
MED7	MED17	Q9NVC6	938
MED7	MED9	Q9NWA0	906
MED7	MED8	Q96G25	904
MED7	MED19	A0JLT2	900
MED7	MED22	Q15528	896
MED7	MED26	O95402	872
MED7	MED11	Q9P086	869
MED7	CDK8	P49336	861
MED7	MED15	Q96RN5	851

IntAct

110 interactions, top by confidence:

A	B	Type	Score
MED10	MED7	psi-mi:“MI:0915”(physical association)	0.920
MED10	MED19	psi-mi:“MI:0914”(association)	0.910
MED10	MED19	psi-mi:“MI:0915”(physical association)	0.910
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
MED26	MED7	psi-mi:“MI:0914”(association)	0.860
MED7	MED26	psi-mi:“MI:0915”(physical association)	0.860
CDK8	MED19	psi-mi:“MI:2364”(proximity)	0.850
CDK8	MED19	psi-mi:“MI:0914”(association)	0.850
MED21	MED7	psi-mi:“MI:0915”(physical association)	0.850
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 (253): HAUS1 (Two-hybrid), MED13 (Affinity Capture-MS), MED1 (Affinity Capture-MS), MED27 (Affinity Capture-MS), MED31 (Affinity Capture-MS), MED26 (Affinity Capture-MS), MED13L (Affinity Capture-MS), MED16 (Affinity Capture-MS), MED14 (Affinity Capture-MS), MED12 (Affinity Capture-MS), MED12L (Affinity Capture-MS), MED21 (Affinity Capture-MS), MED23 (Affinity Capture-MS), MED15 (Affinity Capture-MS), MED9 (Affinity Capture-MS)

ESM2 similar proteins: A0A5F9C6I2, A0JPN6, A4IIZ9, A5WUL3, D3ZUQ0, D3ZXK7, F1R7R1, O43513, O57595, O75916, P51593, P53349, P68943, P85299, Q08DY8, Q13233, Q15528, Q17QG3, Q2F7Z4, Q2TBN4, Q2YDF2, Q3B8I4, Q3T123, Q5BJ48, Q5E9K2, Q5EBL4, Q5FVG6, Q5RKN3, Q5XIX8, Q5XPI3, Q5XPI4, Q62276, Q62739, Q6GQ95, Q6QB00, Q6ZUS6, Q7TMY8, Q7ZV35, Q800L3, Q80U62

Diamond homologs: A1CT75, A1DN59, A2QWI7, A3LZW1, O43513, Q08278, Q0CK31, Q17MI0, Q1E7S5, Q2F7Z4, Q2GRJ3, Q2UHU3, Q3B8I4, Q3T123, Q4WMG1, Q55DQ5, Q5AEN6, Q5BBF7, Q5BJ48, Q6BKZ4, Q6CE96, Q6CP69, Q6FVI8, Q6GPR9, Q75AV2, Q7PR68, Q7S2D4, Q7ZV35, Q95Q17, Q9CZB6, Q9GYV9, Q9LYW3, Q9LZD7, Q0U6Z7, O60104, Q60V43

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
MED7	“form complex”	“Core mediator complex”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 51 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	24	127.7×	4e-46
RSV-host interactions	24	101.5×	1e-43
Adipogenesis	24	101.5×	1e-43
Regulation of lipid metabolism by PPARalpha	24	91.5×	2e-42
Transcriptional regulation of white adipocyte differentiation	24	84.2×	1e-41
Epigenetic regulation of adipogenesis genes by MLL3 and MLL4 complexes	13	75.7×	9e-21
Epigenetic regulation of gene expression by MLL3 and MLL4 complexes	13	69.2×	3e-20
PPARA activates gene expression	24	61.2×	6e-38

GO biological processes:

GO term	Partners	Fold	FDR
positive regulation of transcription elongation by RNA polymerase II	20	130.8×	4e-37
positive regulation of transcription initiation by RNA polymerase II	21	124.1×	3e-38
RNA polymerase II preinitiation complex assembly	20	118.2×	3e-36
somatic stem cell population maintenance	9	48.5×	1e-11
transcription initiation at RNA polymerase II promoter	5	40.7×	5e-06
protein ubiquitination	12	10.8×	3e-08

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	22
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

167 predictions. Top by Δscore:

Variant	Effect	Δscore
5:157142815:CTTA:C	donor_loss	1.0000
5:157142817:TA:T	donor_loss	1.0000
5:157142819:C:CA	donor_loss	1.0000
5:157142818:A:AC	donor_gain	0.9900
5:157142818:AC:A	donor_gain	0.9900
5:157142819:C:CC	donor_gain	0.9900
5:157142819:CC:C	donor_gain	0.9900
5:157142819:CCT:C	donor_gain	0.9900
5:157142818:ACCT:A	donor_gain	0.9800
5:157142819:CCTC:C	donor_gain	0.9800
5:157142819:CCTCA:C	donor_gain	0.9800
5:157139449:C:CC	acceptor_gain	0.9600
5:157142875:T:TA	donor_gain	0.9600
5:157142824:G:C	donor_gain	0.9100
5:157139586:T:A	acceptor_gain	0.8900
5:157142836:CA:C	donor_gain	0.8900
5:157139445:GAAC:G	acceptor_gain	0.8700
5:157142454:T:A	donor_gain	0.8500
5:157142544:CCCA:C	donor_gain	0.8400
5:157139585:C:CA	acceptor_gain	0.8200
5:157142852:C:A	donor_gain	0.8100
5:157142547:A:T	donor_gain	0.8000
5:157142489:G:A	donor_gain	0.7700
5:157142604:AGAGC:A	donor_gain	0.7700
5:157139253:T:A	donor_gain	0.7300
5:157139456:C:CT	acceptor_gain	0.7200
5:157142504:G:C	donor_gain	0.7200
5:157142604:AGAG:A	donor_gain	0.7200
5:157139447:ACCT:A	acceptor_gain	0.7100
5:157142594:TGC:T	donor_gain	0.7000

AlphaMissense

1577 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:157138984:C:G	A150P	1.000
5:157139042:T:A	Q130H	1.000
5:157139042:T:G	Q130H	1.000
5:157139060:A:C	N124K	1.000
5:157139060:A:T	N124K	1.000
5:157139067:A:G	L122P	1.000
5:157139074:G:C	H120D	1.000
5:157139157:A:G	L92P	1.000
5:157139199:A:G	L78P	1.000
5:157139297:A:C	F45L	1.000
5:157139297:A:T	F45L	1.000
5:157139299:A:G	F45L	1.000
5:157138962:A:G	L157P	0.999
5:157138995:C:G	R146P	0.999
5:157139001:C:G	R144P	0.999
5:157139028:A:C	L135W	0.999
5:157139028:A:G	L135S	0.999
5:157139034:T:A	E133V	0.999
5:157139036:T:A	R132S	0.999
5:157139036:T:G	R132S	0.999
5:157139037:C:A	R132I	0.999
5:157139037:C:G	R132T	0.999
5:157139040:G:T	A131E	0.999
5:157139041:C:G	A131P	0.999
5:157139043:T:G	Q130P	0.999
5:157139047:G:C	H129D	0.999
5:157139053:G:C	R127G	0.999
5:157139062:T:C	N124D	0.999
5:157139070:T:G	H121P	0.999
5:157139071:G:C	H121D	0.999

dbSNP variants (sampled 300 via entrez): RS1000281814 (5:157142865 G>A,T), RS1000547977 (5:157142900 C>G,T), RS1000591803 (5:157137073 C>T), RS1001196804 (5:157138301 T>C), RS1001669367 (5:157137999 A>C), RS1002225971 (5:157139805 A>G), RS1002292221 (5:157138394 A>T), RS1002405193 (5:157138129 T>C), RS1002965147 (5:157141313 C>T), RS1003297180 (5:157140026 T>C), RS1004170223 (5:157139625 T>A), RS1004422725 (5:157139448 C>T), RS1005174300 (5:157141064 G>T), RS1005185701 (5:157140789 G>A,T), RS1005661924 (5:157142324 G>A,C)

Disease associations

OMIM: gene MIM:605045 | 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
GCST007932_93	Medication use (thyroid preparations)	5.000000e-09

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0009933	Thyroid preparation use measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Particulate Matter	affects cotreatment, decreases expression, increases abundance	2
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
bisphenol F	affects cotreatment, increases expression	1
TAK-243	decreases sumoylation	1
geldanamycin	increases expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
sodium arsenite	decreases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
isobutyl alcohol	affects cotreatment, decreases expression, increases abundance	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	increases reaction, affects binding	1
bisphenol S	affects cotreatment, increases expression	1
Vorinostat	increases expression	1
Air Pollutants	increases abundance, affects expression	1
Atrazine	increases expression	1
Benzo(a)pyrene	affects methylation	1
Dexamethasone	affects cotreatment, increases expression	1
Doxorubicin	decreases expression	1
Gasoline	affects cotreatment, decreases expression, increases abundance	1
Hydrogen Peroxide	affects expression	1
Indomethacin	affects cotreatment, increases expression	1
Ozone	affects expression, increases abundance	1
Polycyclic Aromatic Hydrocarbons	affects cotreatment, decreases expression, increases abundance	1
Potassium Chloride	decreases response to substance, decreases expression	1
Quercetin	decreases expression	1
Smoke	decreases expression	1
Dronabinol	decreases expression, decreases response to substance	1
Tobacco Smoke Pollution	increases expression	1
Urethane	decreases expression	1

Clinical trials (associated diseases)

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