MED20

Summary

MED20 (mediator complex subunit 20, HGNC:16840) is a protein-coding gene on chromosome 6p21.1, encoding Mediator of RNA polymerase II transcription subunit 20 (Q9H944). 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 96.5% of cancer 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, by interacting with RNA polymerase II and promoting the formation of a transcriptional pre-initiation complex. A mutation in this gene has been associated with a novel infantile-onset neurodegenerative movement disorder. Alternatively spliced transcript variants have been identified.

Source: NCBI Gene 9477 — RefSeq curated summary.

At a glance

• GWAS associations: 9
• Clinical variants (ClinVar): 19 total
• Cancer dependency (DepMap): dependent in 96.5% of screened cell lines (common-essential)
• MANE Select transcript: NM_004275

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16840
Approved symbol	MED20
Name	mediator complex subunit 20
Location	6p21.1
Locus type	gene with protein product
Status	Approved
Aliases	DKFZp586D2223, PRO0213, SRB2
Ensembl gene	ENSG00000124641
Ensembl biotype	protein_coding
OMIM	612915
Entrez	9477

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 7 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000265350, ENST00000394251, ENST00000409060, ENST00000409312, ENST00000434077, ENST00000467535, ENST00000482361, ENST00000922294, ENST00000953440

RefSeq mRNA: 4 — MANE Select: NM_004275 NM_001305455, NM_001305456, NM_001305457, NM_004275

CCDS: CCDS4862, CCDS83085

Canonical transcript exons

ENST00000265350 — 4 exons

Exon	Start	End
ENSE00001367529	41905354	41907287
ENSE00001955083	41921005	41921139
ENSE00003654818	41909269	41909522
ENSE00003659876	41916785	41916939

Expression profiles

Bgee: expression breadth ubiquitous, 252 present calls, max score 96.80.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.6251 / max 139.8894, expressed in 1770 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
73577	9.7670	1746
73576	0.8580	500

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	96.80	gold quality
oocyte	CL:0000023	96.35	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	90.86	gold quality
islet of Langerhans	UBERON:0000006	86.54	gold quality
stromal cell of endometrium	CL:0002255	85.00	gold quality
gingival epithelium	UBERON:0001949	84.84	gold quality
ganglionic eminence	UBERON:0004023	84.71	gold quality
hair follicle	UBERON:0002073	84.47	silver quality
adrenal tissue	UBERON:0018303	84.25	gold quality
gastrocnemius	UBERON:0001388	83.98	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	83.84	gold quality
muscle of leg	UBERON:0001383	83.69	gold quality
right adrenal gland cortex	UBERON:0035827	83.68	gold quality
tongue squamous epithelium	UBERON:0006919	83.53	silver quality
right adrenal gland	UBERON:0001233	83.45	gold quality
ventricular zone	UBERON:0003053	83.12	gold quality
nephron tubule	UBERON:0001231	83.09	gold quality
apex of heart	UBERON:0002098	82.75	gold quality
left adrenal gland	UBERON:0001234	82.71	gold quality
mucosa of transverse colon	UBERON:0004991	82.62	gold quality
heart left ventricle	UBERON:0002084	82.56	gold quality
embryo	UBERON:0000922	82.53	gold quality
gingiva	UBERON:0001828	82.30	gold quality
cardiac ventricle	UBERON:0002082	82.29	gold quality
hindlimb stylopod muscle	UBERON:0004252	82.22	gold quality
rectum	UBERON:0001052	82.18	gold quality
left adrenal gland cortex	UBERON:0035825	82.11	gold quality
muscle organ	UBERON:0001630	82.03	gold quality
smooth muscle tissue	UBERON:0001135	81.98	gold quality
metanephros	UBERON:0000081	81.91	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.03

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

79 targeting MED20, 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-1252-5P	100.00	69.80	2774
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-6798-5P	100.00	65.77	699
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-146A-5P	99.96	68.93	988
HSA-MIR-146B-5P	99.96	69.13	977
HSA-MIR-545-3P	99.95	70.74	2783
HSA-MIR-7153-5P	99.94	68.89	1006
HSA-MIR-101-3P	99.94	75.03	2230
HSA-MIR-652-5P	99.91	67.49	505
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-4496	99.88	68.89	2236
HSA-MIR-6857-5P	99.87	65.32	985
HSA-MIR-3065-3P	99.87	70.25	1407
HSA-MIR-548D-3P	99.87	70.67	4362
HSA-MIR-548BB-3P	99.86	70.58	4354
HSA-MIR-548AC	99.84	70.77	4351
HSA-MIR-548H-3P	99.84	70.80	4349
HSA-MIR-548Z	99.84	70.80	4349
HSA-MIR-6715A-3P	99.83	68.05	1473
HSA-MIR-4319	99.76	69.83	2586
HSA-MIR-3934-3P	99.76	65.51	1351
HSA-MIR-10393-3P	99.72	66.56	961

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 96.5% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 2)

• We identified the first and homozygous mutation (p.Gly114Ala) in the Mediator subunit 20 gene (MED20) in siblings presenting with infantile-onset spasticity and childhood-onset dystonia, progressive basal ganglia degeneration, and brain atrophy (PMID:25446406)
• Our analyses revealed no apparent differences in protein expression profiles of SRBs in central and peripheral regions of human donor tissues, indicating that carotenoid-binding proteins rather than transporters are likely to mediate selective accumulation of carotenoids into the macula. (PMID:28947101)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	med20	ENSDARG00000046006
mus_musculus	Med20	ENSMUSG00000092558
rattus_norvegicus	Med20	ENSRNOG00000013852
drosophila_melanogaster	MED20	FBGN0013531
caenorhabditis_elegans		WBGENE00007020

Protein

Protein identifiers

Mediator of RNA polymerase II transcription subunit 20 — Q9H944 (reviewed: Q9H944)

Alternative names: Mediator complex subunit 20, TRF-proximal protein homolog

All UniProt accessions (4): A6PVP4, B7ZBQ1, B7ZBQ3, Q9H944

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. Interacts with PPARG. 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 20 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9H944-1	1	yes
Q9H944-2	2

RefSeq proteins (3): NP_001292384, NP_001292386, NP_004266* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR013921	Mediator_Med20	Family

Pfam: PF08612

UniProt features (20 total): strand 10, helix 5, sequence conflict 2, chain 1, splice variant 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-Q9H944-F1	91.93	0.83

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: 197 (showing top): GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_DN, REACTOME_TRANSCRIPTIONAL_REGULATION_OF_WHITE_ADIPOCYTE_DIFFERENTIATION, GOBP_MUSCLE_TISSUE_DEVELOPMENT, YAGI_AML_WITH_INV_16_TRANSLOCATION, AMIT_EGF_RESPONSE_60_HELA, GOBP_POSITIVE_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, PUJANA_CHEK2_PCC_NETWORK, GOBP_MUSCLE_STRUCTURE_DEVELOPMENT, GOBP_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, GOBP_SKELETAL_MUSCLE_ORGAN_DEVELOPMENT, GOBP_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, GOBP_TRANSCRIPTION_INITIATION_AT_RNA_POLYMERASE_II_PROMOTER, GOBP_PROTEIN_DNA_COMPLEX_ORGANIZATION, PUJANA_BRCA_CENTERED_NETWORK, GOBP_SKELETAL_MUSCLE_CELL_DIFFERENTIATION

GO Biological Process (7): DNA-templated transcription (GO:0006351), regulation of transcription by RNA polymerase II (GO:0006357), transcription by RNA polymerase II (GO:0006366), positive regulation of transcription elongation by RNA polymerase II (GO:0032968), skeletal muscle cell differentiation (GO:0035914), 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), DNA-directed RNA polymerase activity (GO:0003899), transcription coregulator activity (GO:0003712), protein binding (GO:0005515)

GO Cellular Component (5): nucleus (GO:0005634), nucleoplasm (GO:0005654), mediator complex (GO:0016592), core mediator complex (GO:0070847), protein-containing complex (GO:0032991)

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
RNA biosynthetic process	2
positive regulation of transcription by RNA polymerase II	2
transcription initiation at RNA polymerase II promoter	2
gene expression	1
regulation of DNA-templated transcription	1
transcription by RNA polymerase II	1
DNA-templated transcription	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
skeletal muscle tissue development	1
cell differentiation	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
5’-3’ RNA polymerase activity	1
transcription regulator activity	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
cellular_component	1

Protein interactions and networks

STRING

854 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MED20	MED18	Q9BUE0	999
MED20	MED8	Q96G25	996
MED20	MED6	O75586	992
MED20	MED17	Q9NVC6	990
MED20	MED22	Q15528	984
MED20	MED11	Q9P086	984
MED20	MED29	Q9NX70	977
MED20	MED21	Q13503	917
MED20	MED30	Q96HR3	914
MED20	MED10	Q9BTT4	904
MED20	MED14	O60244	853
MED20	MED27	Q6P2C8	849
MED20	MED19	A0JLT2	841
MED20	MED7	O43513	838
MED20	POLR2C	P19387	781

IntAct

169 interactions, top by confidence:

A	B	Type	Score
MED20	MED18	psi-mi:“MI:0915”(physical association)	0.960
MED18	MED20	psi-mi:“MI:0915”(physical association)	0.960
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
MED29	MED18	psi-mi:“MI:0914”(association)	0.890
MED21	MED19	psi-mi:“MI:0914”(association)	0.880

BioGRID (378): MED18 (Two-hybrid), MED20 (Affinity Capture-MS), MED20 (Affinity Capture-MS), MED20 (Affinity Capture-MS), MED20 (Affinity Capture-MS), MED20 (Affinity Capture-MS), MED20 (Affinity Capture-MS), GTPBP4 (Co-fractionation), MED1 (Co-fractionation), MED10 (Co-fractionation), MED11 (Co-fractionation), MED14 (Co-fractionation), MED15 (Co-fractionation), MED17 (Co-fractionation), MED18 (Co-fractionation)

ESM2 similar proteins: A4FUD6, A4IFQ0, A6QR06, O35841, P48553, P54198, P70398, P79987, Q13769, Q28C34, Q3TLI0, Q3UX43, Q4R4S8, Q5BJQ7, Q5R644, Q5R7U7, Q5RCC1, Q5RDB9, Q5RE70, Q5XIE9, Q5ZKY9, Q61666, Q62784, Q68E01, Q6NPF4, Q6NRC7, Q6NRD0, Q6NTV8, Q6P1I3, Q7TPD0, Q7ZUV0, Q8BHL5, Q8BIK4, Q8CBY8, Q8IWV8, Q8N6S4, Q924Z6, Q93008, Q96BN2, Q96JJ3

Diamond homologs: P91641, Q17LR9, Q4R4S8, Q5XIE9, Q5ZKY9, Q6DBX1, Q6NTV8, Q7Q6Y4, Q9H944, Q9R0X0, Q61A42, Q9N5A1

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
MED20	“form complex”	“Core mediator complex”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 75 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	96.7×	1e-47
RSV-host interactions	27	76.8×	9e-45
Adipogenesis	27	76.8×	9e-45
Regulation of lipid metabolism by PPARalpha	27	69.2×	2e-43
Transcriptional regulation of white adipocyte differentiation	27	63.7×	2e-42
Epigenetic regulation of adipogenesis genes by MLL3 and MLL4 complexes	16	62.7×	3e-24
Epigenetic regulation of gene expression by MLL3 and MLL4 complexes	16	57.3×	2e-23
PPARA activates gene expression	27	46.3×	4e-38

GO biological processes:

GO term	Partners	Fold	FDR
positive regulation of transcription elongation by RNA polymerase II	22	96.0×	2e-37
RNA polymerase II preinitiation complex assembly	23	90.6×	2e-38
positive regulation of transcription initiation by RNA polymerase II	23	90.6×	2e-38
somatic stem cell population maintenance	12	43.1×	5e-15
transcription initiation at RNA polymerase II promoter	7	38.0×	4e-08
protein ubiquitination	13	7.8×	5e-07

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	13
Likely benign	5
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

761 predictions. Top by Δscore:

Variant	Effect	Δscore
6:41907286:ACC:A	acceptor_loss	1.0000
6:41907287:CCT:C	acceptor_loss	1.0000
6:41907288:CTGGG:C	acceptor_loss	1.0000
6:41907289:T:C	acceptor_loss	1.0000
6:41907296:C:CT	acceptor_gain	1.0000
6:41907297:A:T	acceptor_gain	1.0000
6:41916783:A:T	donor_loss	1.0000
6:41916935:ACACA:A	acceptor_gain	1.0000
6:41916936:CACA:C	acceptor_gain	1.0000
6:41916936:CACAC:C	acceptor_gain	1.0000
6:41916938:CA:C	acceptor_gain	1.0000
6:41916940:C:CC	acceptor_gain	1.0000
6:41916941:T:C	acceptor_loss	1.0000
6:41921014:C:CA	donor_gain	1.0000
6:41907284:CCAC:C	acceptor_gain	0.9900
6:41907285:CACC:C	acceptor_gain	0.9900
6:41907288:C:CC	acceptor_gain	0.9900
6:41907296:C:T	acceptor_gain	0.9900
6:41909518:CTGAC:C	acceptor_gain	0.9900
6:41909519:TGACC:T	acceptor_loss	0.9900
6:41909521:ACC:A	acceptor_loss	0.9900
6:41909523:C:CC	acceptor_gain	0.9900
6:41909523:C:G	acceptor_loss	0.9900
6:41916779:A:AC	donor_gain	0.9900
6:41916780:C:CC	donor_gain	0.9900
6:41916937:ACA:A	acceptor_gain	0.9900
6:41916937:ACACT:A	acceptor_gain	0.9900
6:41916938:CAC:C	acceptor_gain	0.9900
6:41916938:CACT:C	acceptor_gain	0.9900
6:41916939:ACT:A	acceptor_gain	0.9900

AlphaMissense

1402 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:41909306:A:T	V129D	0.999
6:41909313:C:G	G127R	0.999
6:41909327:A:G	F122S	0.999
6:41909343:A:C	Y117D	0.999
6:41909351:C:A	G114V	0.999
6:41909351:C:T	G114D	0.999
6:41909352:C:G	G114R	0.999
6:41907110:G:T	R201S	0.998
6:41909312:C:T	G127D	0.998
6:41909399:A:G	L98P	0.998
6:41909462:G:T	A77D	0.998
6:41916837:A:C	F39L	0.998
6:41916837:A:T	F39L	0.998
6:41916839:A:G	F39L	0.998
6:41921015:C:G	G2R	0.998
6:41921015:C:T	G2R	0.998
6:41907252:G:C	C153W	0.997
6:41909283:C:G	G137R	0.997
6:41909321:A:T	V124E	0.997
6:41909326:G:C	F122L	0.997
6:41909326:G:T	F122L	0.997
6:41909328:A:G	F122L	0.997
6:41909330:T:A	D121V	0.997
6:41909352:C:A	G114C	0.997
6:41909432:G:T	A87D	0.997
6:41916818:A:C	Y46D	0.997
6:41907109:C:G	R201P	0.996
6:41907124:A:G	L196P	0.996
6:41907134:A:C	Y193D	0.996
6:41909279:A:T	I138N	0.996

dbSNP variants (sampled 300 via entrez): RS1000020550 (6:41907062 C>A), RS1000053120 (6:41907386 C>A,G,T), RS1000067246 (6:41917979 T>C), RS1000087810 (6:41914761 C>T), RS1000135353 (6:41916654 C>T), RS1000205243 (6:41911209 G>T), RS1000250025 (6:41914444 G>A), RS1000383840 (6:41921265 C>G), RS1000490405 (6:41913041 T>C,G), RS1000527072 (6:41905637 T>A), RS1000919211 (6:41922701 C>A), RS1001041665 (6:41908876 A>G), RS1001213880 (6:41905964 A>G,T), RS1001236599 (6:41918301 C>T), RS1001379975 (6:41911914 G>A)

Disease associations

OMIM: gene MIM:612915 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

9 associations (top):

Study	Trait	p-value
GCST000585_11	Mean corpuscular volume	4.000000e-27
GCST000587_12	Mean corpuscular hemoglobin	2.000000e-20
GCST000588_5	Red blood cell count	1.000000e-10
GCST001781_8	Mean corpuscular volume	9.000000e-08
GCST004602_108	Mean corpuscular volume	4.000000e-28
GCST004630_90	Mean corpuscular hemoglobin	2.000000e-23
GCST009391_1890	Metabolite levels	1.000000e-06
GCST009391_392	Metabolite levels	8.000000e-06
GCST012227_977	Hip circumference adjusted for BMI	4.000000e-11

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0004509	hemoglobin measurement
EFO:0004527	mean corpuscular hemoglobin
EFO:0004305	erythrocyte count
EFO:0010414	triacylglycerol 52:2 measurement
EFO:0010437	triacylglycerol 58:10 measurement
EFO:0008039	BMI-adjusted hip circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Cadmium Chloride	decreases expression	2
aristolochic acid I	increases expression	1
bisphenol F	affects cotreatment, increases expression	1
triphenyl phosphate	affects expression	1
primycin	decreases expression	1
trichostatin A	affects expression	1
sodium arsenite	decreases expression	1
pentanal	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
abrine	increases expression	1
Temozolomide	increases expression	1
Sunitinib	decreases expression	1
Zoledronic Acid	increases expression	1
Leflunomide	decreases expression	1
Air Pollutants, Occupational	decreases expression	1
Ethanol	affects cotreatment, decreases expression, increases abundance	1
Cadmium	decreases expression	1
Cisplatin	increases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Doxorubicin	decreases expression	1
Estradiol	decreases expression	1
Ethyl Methanesulfonate	increases expression	1
Gasoline	affects cotreatment, decreases expression, increases abundance	1
Indomethacin	affects cotreatment, increases expression	1
Ivermectin	decreases expression	1
Nickel	decreases expression	1
Polycyclic Aromatic Hydrocarbons	decreases expression, increases abundance, affects cotreatment	1
Thiram	decreases expression	1
Urethane	increases expression	1

Clinical trials (associated diseases)

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