MED28

Summary

MED28 (mediator complex subunit 28, HGNC:24628) is a protein-coding gene on chromosome 4p15.32, encoding Mediator of RNA polymerase II transcription subunit 28 (Q9H204). 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 96.9% of cancer cell lines).

Predicted to enable actin binding activity. Predicted to be involved in RNA polymerase II preinitiation complex assembly; positive regulation of transcription elongation by RNA polymerase II; and positive regulation of transcription initiation by RNA polymerase II. Predicted to act upstream of or within negative regulation of smooth muscle cell differentiation and somatic stem cell population maintenance. Located in nucleoplasm. Part of core mediator complex.

Source: NCBI Gene 80306 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 29 total
• Cancer dependency (DepMap): dependent in 96.9% of screened cell lines (common-essential)
• MANE Select transcript: NM_025205

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24628
Approved symbol	MED28
Name	mediator complex subunit 28
Location	4p15.32
Locus type	gene with protein product
Status	Approved
Aliases	EG1, DKFZP434N185, magicin
Ensembl gene	ENSG00000118579
Ensembl biotype	protein_coding
OMIM	610311
Entrez	80306

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 1 protein_coding, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay, 1 retained_intron

ENST00000237380, ENST00000499786, ENST00000503945, ENST00000506409

RefSeq mRNA: 1 — MANE Select: NM_025205 NM_025205

CCDS: CCDS33963

Canonical transcript exons

ENST00000237380 — 4 exons

Exon	Start	End
ENSE00000799255	17619901	17619967
ENSE00000799256	17621587	17621699
ENSE00001130921	17623601	17634105
ENSE00002085922	17614641	17614813

Expression profiles

Bgee: expression breadth ubiquitous, 284 present calls, max score 96.78.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 52.6278 / max 517.2656, expressed in 1823 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
47042	52.6278	1823

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
amniotic fluid	UBERON:0000173	96.78	gold quality
buccal mucosa cell	CL:0002336	96.37	gold quality
esophagus squamous epithelium	UBERON:0006920	95.27	gold quality
ventricular zone	UBERON:0003053	93.75	gold quality
monocyte	CL:0000576	93.69	gold quality
mononuclear cell	CL:0000842	93.59	gold quality
leukocyte	CL:0000738	93.49	gold quality
epithelium of esophagus	UBERON:0001976	93.45	gold quality
palpebral conjunctiva	UBERON:0001812	92.79	gold quality
embryo	UBERON:0000922	92.74	gold quality
ganglionic eminence	UBERON:0004023	92.64	gold quality
thymus	UBERON:0002370	92.59	gold quality
eye	UBERON:0000970	92.39	gold quality
gastrocnemius	UBERON:0001388	91.98	gold quality
cartilage tissue	UBERON:0002418	91.78	gold quality
superficial temporal artery	UBERON:0001614	91.63	gold quality
epithelium of nasopharynx	UBERON:0001951	91.59	gold quality
muscle of leg	UBERON:0001383	91.45	gold quality
endothelial cell	CL:0000115	91.39	silver quality
pigmented layer of retina	UBERON:0001782	91.23	gold quality
nipple	UBERON:0002030	91.19	gold quality
bone marrow	UBERON:0002371	91.19	gold quality
penis	UBERON:0000989	90.82	gold quality
granulocyte	CL:0000094	90.81	gold quality
parotid gland	UBERON:0001831	90.70	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	90.59	gold quality
medial globus pallidus	UBERON:0002477	90.46	gold quality
hindlimb stylopod muscle	UBERON:0004252	90.44	gold quality
adult organism	UBERON:0007023	90.44	gold quality
blood	UBERON:0000178	90.35	gold quality

Single-cell (SCXA)

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

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

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

123 targeting MED28, 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-3613-3P	100.00	76.36	7965
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-4282	99.99	75.36	6408
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-LET-7D-5P	99.96	71.76	1632
HSA-MIR-4458	99.96	71.64	1650
HSA-MIR-559	99.95	72.28	3609

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 96.9% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 16)

• demonstrate an interaction between Grb2 and magicin. In addition, merlin is capable of forming a ternary complex with magicin and Grb2 (PMID:15467741)
• EG-1 is a positive stimulator of cellular proliferation, and may possibly be involved in signaling pathways involving Src and MAPK activation. (PMID:16024617)
• May serve as a multi-faceted adaptor/scaffold to relay cellular signaling to the cytoskeleton and from the cytoskeleton to the nucleus. (PMID:16899217)
• EG-1 may be involved in signaling pathways including c-Src activation. (PMID:16964398)
• EG-1 has a role in breast tumor growth (PMID:17568184)
• Study reports that down-regulation of human Med28 expression in NIH3T3 cells results in a significant induction of several genes associated with smooth muscle cell (SMC)differentiation; conversely, overexpression of MED28 represses SMC gene expression. (PMID:17848560)
• High MED28 is associated with breast cancer. (PMID:20584319)
• These data indicate that MED28 regulates cellular migration in a MEK1-dependent manner in human breast cancer cells, reinforcing the important cellular roles of MED28. (PMID:22495818)
• This paper describes a link between Med23 and IFN-lambda3, provides evidence for the crucial role of IFN-lambda in HSV-1 immune control. (PMID:23950709)
• All trans-retinoic acid can reverse the suppressive effect of MED28 on HBP1 and E-cadherin and inactivate the Wnt/beta-catenin pathway in colorectal cancer, suggesting a protective effect of ATRA against colorectal cancer. (PMID:26660958)
• MED28 modulates the development of epithelial-mesenchymal transition through NFkappaB in human breast cancer cells. (PMID:27662245)
• The data indicate that MED28 interacts with FOXM1, and each affects the expression and localization of the other, and, more importantly, both regulate MMP2-dependent migration and invasion in human lung cancer cells. (PMID:30499104)
• Results suggest that MED28 expression is increased by oncogenic transcription factors and its overexpression disturbs the cell cycle, which results in genomic instability and aneuploidy. (PMID:30970566)
• Highly expressed lncRNA FOXD3-AS1 promotes non-small cell lung cancer progression via regulating miR-127-3p/mediator complex subunit 28 axis. (PMID:32196603)
• RCOR1 directly binds to MED28 and weakens its inducing effect on cancer stem cell-like activity of oral cavity squamous cell carcinoma cells. (PMID:32306431)
• Bioactive Vitamin D Attenuates MED28-Mediated Cell Growth and Epithelial-Mesenchymal Transition in Human Colorectal Cancer Cells. (PMID:36072467)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	med28	ENSDARG00000037410
mus_musculus	Med28	ENSMUSG00000015804
rattus_norvegicus	Med28	ENSRNOG00000003592
drosophila_melanogaster	MED28	FBGN0039337

Protein

Protein identifiers

Mediator of RNA polymerase II transcription subunit 28 — Q9H204 (reviewed: Q9H204)

Alternative names: Endothelial-derived protein 1, Mediator complex subunit 28, Merlin and Grb2-interacting cytoskeletal protein, Tumor angiogenesis marker EG-1

All UniProt accessions (2): Q9H204, H0YAA8

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. May be part of a complex containing NF2/merlin that participates in cellular signaling to the actin cytoskeleton downstream of tyrosine kinase signaling pathways.

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. Forms a ternary complex with NF2/merlin and GRB2. Binds to actin.

Subcellular location. Nucleus. Cytoplasm. Membrane.

Tissue specificity. Widely expressed. Highly expressed in vascular tissues such as placenta, testis and liver.

Induction. Up-regulated by endothelial cells when exposed to tumor conditional media.

Similarity. Belongs to the Mediator complex subunit 28 family.

RefSeq proteins (1): NP_079481* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR021640	Mediator_Med28	Family

Pfam: PF11594

UniProt features (8 total): helix 3, chain 1, region of interest 1, coiled-coil region 1, compositionally biased region 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-Q9H204-F1	80.58	0.52

Function

Pathways and Gene Ontology

Reactome pathways

12 pathways

ID	Pathway
R-HSA-1989781	PPARA activates gene expression
R-HSA-381340	Transcriptional regulation of white adipocyte differentiation
R-HSA-9833110	RSV-host interactions
R-HSA-1266738	Developmental Biology
R-HSA-1430728	Metabolism
R-HSA-1643685	Disease
R-HSA-400206	Regulation of lipid metabolism by PPARalpha
R-HSA-556833	Metabolism of lipids
R-HSA-5663205	Infectious disease
R-HSA-9820952	Respiratory Syncytial Virus Infection Pathway
R-HSA-9824446	Viral Infection Pathways
R-HSA-9843745	Adipogenesis

MSigDB gene sets: 182 (showing top): REACTOME_TRANSCRIPTIONAL_REGULATION_OF_WHITE_ADIPOCYTE_DIFFERENTIATION, MODULE_255, GOBP_NEGATIVE_REGULATION_OF_MUSCLE_CELL_DIFFERENTIATION, GOBP_REGULATION_OF_SMOOTH_MUSCLE_CELL_DIFFERENTIATION, GOBP_SMOOTH_MUSCLE_CELL_DIFFERENTIATION, GOBP_POSITIVE_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, MODULE_317, LINDGREN_BLADDER_CANCER_CLUSTER_3_DN, GOBP_MUSCLE_STRUCTURE_DEVELOPMENT, GOBP_REGULATION_OF_MUSCLE_CELL_DIFFERENTIATION, GOBP_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, GOBP_MAINTENANCE_OF_CELL_NUMBER

GO Biological Process (5): 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), negative regulation of smooth muscle cell differentiation (GO:0051151), positive regulation of transcription initiation by RNA polymerase II (GO:0060261)

GO Molecular Function (2): actin binding (GO:0003779), protein binding (GO:0005515)

GO Cellular Component (8): nucleus (GO:0005634), nucleoplasm (GO:0005654), membrane (GO:0016020), mediator complex (GO:0016592), cortical actin cytoskeleton (GO:0030864), core mediator complex (GO:0070847), cytoplasm (GO:0005737), cytoskeleton (GO:0005856)

Reactome top-level categories

Rollup of top-9 pathways:

Category	Pathways
Regulation of lipid metabolism by PPARalpha	1
Adipogenesis	1
Respiratory Syncytial Virus Infection Pathway	1
Metabolism of lipids	1
Metabolism	1
Disease	1
Viral Infection Pathways	1
Infectious disease	1
Developmental Biology	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
positive regulation of transcription by RNA polymerase II	2
transcription initiation at RNA polymerase II promoter	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
transcription preinitiation complex assembly	1
smooth muscle cell differentiation	1
negative regulation of muscle cell differentiation	1
regulation of smooth muscle cell differentiation	1
regulation of transcription initiation by RNA polymerase II	1
positive regulation of DNA-templated transcription initiation	1
cytoskeletal protein binding	1
binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
core mediator complex	1
nuclear protein-containing complex	1
actin cytoskeleton	1
cortical cytoskeleton	1
RNA polymerase II transcription regulator complex	1
intracellular anatomical structure	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

782 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MED28	MED27	Q6P2C8	787
MED28	MED10	Q9BTT4	781
MED28	MED29	Q9NX70	768
MED28	MED30	Q96HR3	754
MED28	MED6	O75586	744
MED28	MED26	O95402	733
MED28	MED11	Q9P086	721
MED28	MED23	Q9ULK4	710
MED28	MED17	Q9NVC6	704
MED28	MED22	Q15528	703
MED28	MED18	Q9BUE0	702
MED28	MED19	A0JLT2	694
MED28	MED7	O43513	693
MED28	MED8	Q96G25	677
MED28	MED20	Q9H944	657

IntAct

202 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
MED18	MED19	psi-mi:“MI:0914”(association)	0.840
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

BioGRID (343): MED28 (Two-hybrid), SPERT (Two-hybrid), MED28 (Affinity Capture-RNA), MED28 (Affinity Capture-RNA), MED28 (Affinity Capture-MS), MED28 (Affinity Capture-MS), MED28 (Affinity Capture-MS), MED28 (Affinity Capture-MS), MED28 (Two-hybrid), MED28 (Affinity Capture-MS), MED28 (Affinity Capture-MS), USHBP1 (Two-hybrid), MED28 (Two-hybrid), MED28 (Proximity Label-MS), MED28 (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: A4IIZ9, P68943, Q17P98, Q294G7, Q2TBN4, Q5RKN3, Q920D3, Q9H204, Q9VBQ9, Q54DD4

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
FYN	up-regulates	MED28	phosphorylation
LCK	up-regulates	MED28	phosphorylation
MED28	“form complex”	“Core mediator complex”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 83 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	25	80.7×	5e-41
RSV-host interactions	25	64.1×	2e-38
Adipogenesis	25	64.1×	2e-38
Signaling by phosphorylated juxtamembrane, extracellular and kinase domain KIT mutants	7	59.6×	4e-10
Regulation of lipid metabolism by PPARalpha	25	57.8×	3e-37
Transcriptional regulation of white adipocyte differentiation	25	53.2×	3e-36
Epigenetic regulation of adipogenesis genes by MLL3 and MLL4 complexes	14	49.5×	3e-19
Regulation of KIT signaling	5	49.3×	9e-07

GO biological processes:

GO term	Partners	Fold	FDR
positive regulation of transcription elongation by RNA polymerase II	21	86.6×	8e-34
RNA polymerase II preinitiation complex assembly	21	78.2×	3e-33
positive regulation of transcription initiation by RNA polymerase II	21	78.2×	3e-33
somatic stem cell population maintenance	10	34.0×	5e-11
transcription initiation at RNA polymerase II promoter	6	30.8×	4e-06
peptidyl-tyrosine phosphorylation	5	28.9×	7e-05
B cell receptor signaling pathway	5	27.5×	8e-05
T cell receptor signaling pathway	5	10.4×	4e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	19
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

807 predictions. Top by Δscore:

Variant	Effect	Δscore
4:17619884:AT:A	acceptor_gain	1.0000
4:17619885:T:G	acceptor_gain	1.0000
4:17619885:T:TA	acceptor_gain	1.0000
4:17619890:T:A	acceptor_gain	1.0000
4:17619897:ACAG:A	acceptor_gain	1.0000
4:17619898:C:G	acceptor_gain	1.0000
4:17619898:CA:C	acceptor_loss	1.0000
4:17619899:A:AG	acceptor_gain	1.0000
4:17619899:A:AT	acceptor_loss	1.0000
4:17619900:G:GG	acceptor_gain	1.0000
4:17619900:G:GT	acceptor_loss	1.0000
4:17619900:GGCTT:G	acceptor_gain	1.0000
4:17619963:AACCG:A	donor_gain	1.0000
4:17619964:ACCG:A	donor_gain	1.0000
4:17619965:CCG:C	donor_gain	1.0000
4:17619966:CG:C	donor_gain	1.0000
4:17619967:GG:G	donor_gain	1.0000
4:17619967:GGTA:G	donor_loss	1.0000
4:17619968:G:GG	donor_gain	1.0000
4:17619968:GTAAG:G	donor_loss	1.0000
4:17619969:T:G	donor_loss	1.0000
4:17621582:TTAA:T	acceptor_loss	1.0000
4:17621583:TAA:T	acceptor_loss	1.0000
4:17621584:A:AG	acceptor_gain	1.0000
4:17621584:AAG:A	acceptor_gain	1.0000
4:17621584:AAGGT:A	acceptor_gain	1.0000
4:17621585:A:AG	acceptor_gain	1.0000
4:17621585:A:T	acceptor_loss	1.0000
4:17621585:AG:A	acceptor_gain	1.0000
4:17621585:AGGT:A	acceptor_gain	1.0000

AlphaMissense

1150 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:17621610:T:C	F84L	1.000
4:17621611:T:C	F84S	1.000
4:17621612:T:A	F84L	1.000
4:17621612:T:G	F84L	1.000
4:17621614:T:C	L85P	1.000
4:17621622:G:C	A88P	1.000
4:17621623:C:A	A88E	1.000
4:17621640:T:C	F94L	1.000
4:17621642:T:A	F94L	1.000
4:17621642:T:G	F94L	1.000
4:17621643:T:C	F95L	1.000
4:17621644:T:C	F95S	1.000
4:17621645:C:A	F95L	1.000
4:17621645:C:G	F95L	1.000
4:17623614:T:C	L118P	1.000
4:17623635:A:T	K125I	1.000
4:17623636:A:C	K125N	1.000
4:17623636:A:T	K125N	1.000
4:17623676:T:A	W139R	1.000
4:17623676:T:C	W139R	1.000
4:17623678:G:C	W139C	1.000
4:17623678:G:T	W139C	1.000
4:17614797:T:C	L48S	0.999
4:17614805:T:C	S51P	0.999
4:17614808:T:C	F52L	0.999
4:17614809:T:C	F52S	0.999
4:17614809:T:G	F52C	0.999
4:17614810:C:A	F52L	0.999
4:17614810:C:G	F52L	0.999
4:17619904:T:C	C55R	0.999

dbSNP variants (sampled 300 via entrez): RS1000071170 (4:17616660 C>T), RS1000164504 (4:17625985 A>G), RS1000262715 (4:17630621 G>A), RS1000553182 (4:17616105 C>T), RS1000901348 (4:17621336 C>G), RS1001045767 (4:17626832 G>A), RS1001203515 (4:17622311 G>A), RS10012335 (4:17627007 C>A,G,T), RS1001309220 (4:17627871 G>A), RS1001382378 (4:17628172 C>G,T), RS1001772772 (4:17630904 G>T), RS1001804464 (4:17620323 G>T), RS1001915475 (4:17627184 A>C), RS10019856 (4:17614119 T>A,C,G), RS10020237 (4:17614527 T>C,G)

Disease associations

OMIM: gene MIM:610311 | 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

22 total (human), top 22 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression	2
Metribolone	increases expression	2
ginger extract	affects cotreatment, affects expression, increases abundance	1
dicrotophos	decreases expression	1
bisphenol A	increases abundance, affects cotreatment, affects expression	1
beta-lapachone	decreases expression	1
sodium arsenite	increases expression	1
beta-methylcholine	affects expression	1
Resveratrol	affects cotreatment, increases expression	1
Sunitinib	increases expression	1
Acetaminophen	increases expression	1
Dichlorodiphenyl Dichloroethylene	increases expression	1
Formaldehyde	decreases expression	1
Colforsin	increases expression	1
Hydrogen Peroxide	affects expression	1
Methotrexate	decreases expression	1
Nicotine	increases expression	1
Oils, Volatile	affects cotreatment, affects expression, increases abundance	1
Plant Extracts	affects cotreatment, increases expression	1
Aflatoxin B1	increases methylation	1
Antirheumatic Agents	increases expression	1
Okadaic Acid	decreases expression	1

Clinical trials (associated diseases)

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