MYEF2

Summary

MYEF2 (myelin expression factor 2, HGNC:17940) is a protein-coding gene on chromosome 15q21.1, encoding Myelin expression factor 2 (Q9P2K5). Transcriptional repressor of the myelin basic protein gene (MBP).

Enables RNA binding activity. Involved in myotube differentiation and neuron differentiation. Located in nucleus.

Source: NCBI Gene 50804 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 240 total — 17 pathogenic, 2 likely-pathogenic
• MANE Select transcript: NM_016132

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17940
Approved symbol	MYEF2
Name	myelin expression factor 2
Location	15q21.1
Locus type	gene with protein product
Status	Approved
Aliases	MEF-2, FLJ11213, KIAA1341, HsT18564
Ensembl gene	ENSG00000104177
Ensembl biotype	protein_coding
OMIM	619395
Entrez	50804

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 5 protein_coding, 5 retained_intron, 3 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay

ENST00000267836, ENST00000324324, ENST00000557868, ENST00000558289, ENST00000558395, ENST00000559057, ENST00000559862, ENST00000560157, ENST00000560172, ENST00000560513, ENST00000560530, ENST00000561151, ENST00000561301, ENST00000561351, ENST00000620867

RefSeq mRNA: 2 — MANE Select: NM_016132 NM_001301210, NM_016132

CCDS: CCDS32230, CCDS73722

Canonical transcript exons

ENST00000324324 — 17 exons

Exon	Start	End
ENSE00000931309	48151100	48151171
ENSE00001665637	48167349	48167401
ENSE00002544876	48178077	48178295
ENSE00002550739	48134632	48143071
ENSE00003459240	48159613	48159804
ENSE00003462099	48158769	48158922
ENSE00003470073	48153792	48153893
ENSE00003547149	48149032	48149083
ENSE00003547858	48157993	48158056
ENSE00003547910	48165933	48166026
ENSE00003631867	48166121	48166128
ENSE00003637520	48151874	48151942
ENSE00003656275	48158175	48158224
ENSE00003658254	48168631	48168839
ENSE00003662954	48152234	48152284
ENSE00003678638	48149163	48149371
ENSE00003691271	48151473	48151571

Expression profiles

Bgee: expression breadth ubiquitous, 249 present calls, max score 98.57.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 33.6834 / max 771.0185, expressed in 1501 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
149755	31.1824	1490
149756	1.3150	610
149757	1.1860	560

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ventricular zone	UBERON:0003053	98.57	gold quality
ganglionic eminence	UBERON:0004023	98.28	gold quality
mucosa of stomach	UBERON:0001199	97.88	gold quality
cortical plate	UBERON:0005343	96.95	gold quality
right uterine tube	UBERON:0001302	96.76	gold quality
adenohypophysis	UBERON:0002196	96.66	gold quality
pituitary gland	UBERON:0000007	96.54	gold quality
ascending aorta	UBERON:0001496	96.42	gold quality
thoracic aorta	UBERON:0001515	96.39	gold quality
descending thoracic aorta	UBERON:0002345	95.77	gold quality
aorta	UBERON:0000947	95.55	gold quality
left testis	UBERON:0004533	95.21	gold quality
right testis	UBERON:0004534	95.13	gold quality
popliteal artery	UBERON:0002250	94.95	gold quality
tibial artery	UBERON:0007610	94.95	gold quality
right coronary artery	UBERON:0001625	94.90	gold quality
artery	UBERON:0001637	94.57	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	94.42	gold quality
body of pancreas	UBERON:0001150	94.25	gold quality
caput epididymis	UBERON:0004358	94.23	gold quality
metanephros cortex	UBERON:0010533	94.22	gold quality
pigmented layer of retina	UBERON:0001782	94.10	gold quality
retina	UBERON:0000966	94.07	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	93.95	gold quality
lower esophagus muscularis layer	UBERON:0035833	93.68	gold quality
testis	UBERON:0000473	93.63	gold quality
buccal mucosa cell	CL:0002336	93.60	gold quality
lower esophagus	UBERON:0013473	93.58	gold quality
right adrenal gland cortex	UBERON:0035827	93.54	gold quality
cerebellar vermis	UBERON:0004720	93.23	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.41

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

3 targets.

Target	Regulation
CD79A
MBP	Repression
SLU7

Upstream regulators (CollecTRI, top): HDAC9, MYOG

miRNA regulators (miRDB)

188 targeting MYEF2, 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-126-5P	100.00	72.71	3180
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-4713-3P	100.00	65.92	505
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-499A-5P	99.98	70.79	1323
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-433-3P	99.98	69.37	1203
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-548AJ-3P	99.96	73.38	5345

Literature-anchored findings (GeneRIF, showing 4)

• RNA-binding protein Muscleblind-like 3 (MBNL3) disrupts myocyte enhancer factor 2 (Mef2) {beta}-exon splicing (PMID:20709755)
• both polymorphisms (rs1426654 and rs2470102) play an important role in the skin pigmentation diversity of South Asians (PMID:27866970)
• This study demonstrated that none of the associations between time-frequency phenotypes and MYEF2 were significant. (PMID:27871913)
• Expression and function of myelin expression factor 2 in hepatocellular carcinoma. (PMID:36658471)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	myef2	ENSDARG00000059398
mus_musculus	Myef2	ENSMUSG00000027201
mus_musculus	Myef2l	ENSMUSG00000049230
rattus_norvegicus	Myef2	ENSRNOG00000005258
drosophila_melanogaster	rump	FBGN0267790
caenorhabditis_elegans	sup-46	WBGENE00045383

Paralogs (1): HNRNPM (ENSG00000099783)

Protein

Protein identifiers

Myelin expression factor 2 — Q9P2K5 (reviewed: Q9P2K5)

Alternative names: MST156

All UniProt accessions (6): A0A0A0MQW0, A0A0A0MR39, A0A0C4DGV1, Q9P2K5, H0YKS1, H0YN19

UniProt curated annotations — full annotation on UniProt →

Function. Transcriptional repressor of the myelin basic protein gene (MBP). Binds to the proximal MB1 element 5’-TTGTCC-3’ of the MBP promoter. Its binding to MB1 and function are inhibited by PURA.

Subunit / interactions. Monomer.

Subcellular location. Nucleus.

Isoforms (4)

UniProt ID	Names	Canonical?
Q9P2K5-1	1	yes
Q9P2K5-2	2
Q9P2K5-3	3
Q9P2K5-4	4

RefSeq proteins (2): NP_001288139, NP_057216* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000504	RRM_dom	Domain
IPR012677	Nucleotide-bd_a/b_plait_sf	Homologous_superfamily
IPR034630	MYEF2_RRM1	Domain
IPR034631	MYEF2_RRM3	Domain
IPR035979	RBD_domain_sf	Homologous_superfamily
IPR050374	RRT5_SRSF_SR	Family

Pfam: PF00076

UniProt features (23 total): modified residue 4, splice variant 4, domain 3, sequence variant 3, sequence conflict 3, compositionally biased region 3, chain 1, cross-link 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9P2K5-F1	62.49	0.10

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 (5): 406, 431, 53, 13, 17

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 235 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_DN, GSE45365_NK_CELL_VS_BCELL_UP, TAATAAT_MIR126, MODULE_255, MODULE_45, AAGCCAT_MIR135A_MIR135B, GOBP_STRIATED_MUSCLE_CELL_DIFFERENTIATION, GOBP_NEUROGENESIS, ATGCAGT_MIR217, CACCAGC_MIR138, AGTCTTA_MIR499, CATTTCA_MIR203, GOBP_MUSCLE_STRUCTURE_DEVELOPMENT, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM3

GO Biological Process (2): myotube differentiation (GO:0014902), neuron differentiation (GO:0030182)

GO Molecular Function (4): DNA binding (GO:0003677), RNA binding (GO:0003723), mRNA binding (GO:0003729), nucleic acid binding (GO:0003676)

GO Cellular Component (1): nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
nucleic acid binding	2
striated muscle cell differentiation	1
cell differentiation	1
generation of neurons	1
RNA binding	1
binding	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

1842 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MYEF2	CTXN2	P0C2S0	744
MYEF2	SLC24A5	Q71RS6	608
MYEF2	HNRNPC	P07910	510
MYEF2	SLC12A1	Q13621	452
MYEF2	PTBP1	P26599	450
MYEF2	LUC7L3	O95232	421
MYEF2	POLR2K	P53803	421
MYEF2	TRPV6	Q9H1D0	378
MYEF2	LSM5	Q9Y4Y9	372
MYEF2	ACKR1	Q16570	371
MYEF2	GIN1	Q9NXP7	357
MYEF2	MBP	P02686	344
MYEF2	CELF1	Q92879	338
MYEF2	RELCH	Q9P260	332
MYEF2	UBP1	Q9NZI7	322

IntAct

49 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
RPL37A	MPHOSPH10	psi-mi:“MI:0914”(association)	0.530
MAGEB2	POLRMT	psi-mi:“MI:0914”(association)	0.530
MAGEB2	GTPBP10	psi-mi:“MI:0914”(association)	0.530
ZSCAN5A	KDM1A	psi-mi:“MI:0914”(association)	0.530
tax	MYEF2	psi-mi:“MI:0915”(physical association)	0.490
MYEF2	STX12	psi-mi:“MI:0915”(physical association)	0.400
MYEF2	PRMT5	psi-mi:“MI:0914”(association)	0.350
FOXH1	DDX39A	psi-mi:“MI:0914”(association)	0.350
FOXI2	DDX39A	psi-mi:“MI:0914”(association)	0.350
ESR1	ESYT2	psi-mi:“MI:0914”(association)	0.350
GPATCH4	NOP56	psi-mi:“MI:0914”(association)	0.350
RBM4B	ZNF324	psi-mi:“MI:0914”(association)	0.350
	TNFRSF10A	psi-mi:“MI:0914”(association)	0.350
SOX2	DDX39A	psi-mi:“MI:0914”(association)	0.350
LIN28A	MEX3A	psi-mi:“MI:0914”(association)	0.350
MAPT	SHTN1	psi-mi:“MI:0914”(association)	0.350
CEP63	CIBAR1	psi-mi:“MI:0914”(association)	0.350
DYRK1A	TEX13D	psi-mi:“MI:0914”(association)	0.350
RIMS1	KIF2A	psi-mi:“MI:0914”(association)	0.350
HCN1	USP27X	psi-mi:“MI:0914”(association)	0.350
CACNA1C	SNRPGP15	psi-mi:“MI:0914”(association)	0.350
RIMS1	PSMD12	psi-mi:“MI:0914”(association)	0.350
HCN1	POTEF	psi-mi:“MI:0914”(association)	0.350
COPB2	ESYT2	psi-mi:“MI:0914”(association)	0.350

BioGRID (195): MYEF2 (Two-hybrid), MYEF2 (Two-hybrid), TEX11 (Two-hybrid), COG8 (Two-hybrid), MYEF2 (Affinity Capture-MS), MYEF2 (Affinity Capture-MS), MYEF2 (Affinity Capture-MS), MYEF2 (Affinity Capture-MS), MYEF2 (Affinity Capture-MS), MYEF2 (Affinity Capture-MS), MYEF2 (Affinity Capture-MS), MYEF2 (Affinity Capture-MS), MYEF2 (Co-fractionation), MYEF2 (Proximity Label-MS), ACTN4 (Affinity Capture-MS)

ESM2 similar proteins: B2GV05, B5FXN8, G3V9R8, O08583, O75525, O77768, P07910, P19600, P23588, P52756, P55795, P70333, P97379, P97855, Q08DJ0, Q0VFL7, Q13148, Q13283, Q1RMU5, Q28FB9, Q32LC7, Q3SZF3, Q3T0I4, Q58EA2, Q5R5W2, Q5R9L3, Q5RA82, Q5RB87, Q5RD26, Q5SRX1, Q5VWX1, Q5ZLN5, Q60HC3, Q64012, Q6AY09, Q6GLW1, Q86SE5, Q86V81, Q8BGD9, Q8BTF8

Diamond homologs: A0A0D1C8Z4, A0A0D1DZT6, A2RVS6, A5DM21, A5DW14, B5FXN8, F1QB54, F4HT49, F4I3B3, F4JHI7, G3V6S8, O08583, O13845, O22315, O35326, O59670, O74400, P04147, P19682, P19683, P19684, P20965, P49313, P49314, P78814, P82277, P97855, Q04836, Q08170, Q08935, Q08937, Q09167, Q13242, Q13243, Q13247, Q13283, Q14498, Q1ZXC2, Q28FB9, Q32LC7

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 68 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
Formation of a pool of free 40S subunits	5	12.4×	6e-03
Ribosome Quality Control (RQC) complex extracts and degrades nascent peptide	5	11.9×	6e-03
L13a-mediated translational silencing of Ceruloplasmin expression	5	11.2×	6e-03
GTP hydrolysis and joining of the 60S ribosomal subunit	5	11.1×	6e-03
Major pathway of rRNA processing in the nucleolus and cytosol	8	11.0×	2e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	17
Likely pathogenic	2
Uncertain significance	128
Likely benign	56
Benign	2

Top pathogenic / likely-pathogenic (19)

Variant ID	HGVS	Classification
1452966	NM_205850.3(SLC24A5):c.1009del (p.Thr337fs)	Pathogenic
1454595	NC_000015.9:g.(?48426485)(48730124_?)del	Pathogenic
1508577	NM_205850.3(SLC24A5):c.590+4A>G	Pathogenic
1929456	NM_205850.3(SLC24A5):c.568_572del (p.Ile189_Ile190insTer)	Pathogenic
1939262	NM_205850.3(SLC24A5):c.522_532del (p.Arg174fs)	Pathogenic
2017115	NM_205850.3(SLC24A5):c.781C>T (p.Gln261Ter)	Pathogenic
2080274	NM_205850.3(SLC24A5):c.1318_1319del (p.Tyr440fs)	Pathogenic
2431038	NM_205850.3(SLC24A5):c.494C>G (p.Ser165Ter)	Pathogenic
2796282	NM_205850.3(SLC24A5):c.948_952del (p.Leu317fs)	Pathogenic
3657651	NM_205850.3(SLC24A5):c.1294G>T (p.Glu432Ter)	Pathogenic
436742	NM_205850.3(SLC24A5):c.528T>A (p.Cys176Ter)	Pathogenic
440483	NM_205850.3(SLC24A5):c.641del (p.Leu214fs)	Pathogenic
440484	NM_205850.3(SLC24A5):c.521G>A (p.Arg174Lys)	Pathogenic
4749328	NM_205850.3(SLC24A5):c.896del (p.Pro299fs)	Pathogenic
60559	NM_205850.3(SLC24A5):c.591G>A (p.Trp197Ter)	Pathogenic
627611	NM_205850.3(SLC24A5):c.503C>G (p.Ser168Ter)	Pathogenic
817885	NM_205850.3(SLC24A5):c.493del (p.Ser165fs)	Pathogenic
1951485	NM_205850.3(SLC24A5):c.871+2T>C	Likely pathogenic
2578734	NM_205850.3(SLC24A5):c.1455T>A (p.Tyr485Ter)	Likely pathogenic

SpliceAI

3763 predictions. Top by Δscore:

Variant	Effect	Δscore
15:48147181:T:A	donor_gain	1.0000
15:48149031:CCACA:C	donor_gain	1.0000
15:48151098:A:AC	donor_gain	1.0000
15:48151099:C:CC	donor_gain	1.0000
15:48151102:ATT:A	donor_gain	1.0000
15:48151516:A:AC	donor_gain	1.0000
15:48153789:CA:C	donor_loss	1.0000
15:48153790:A:AG	donor_loss	1.0000
15:48153791:C:CG	donor_loss	1.0000
15:48153791:CCA:C	donor_gain	1.0000
15:48153817:TC:T	donor_gain	1.0000
15:48153818:CC:C	donor_gain	1.0000
15:48153890:CCAC:C	acceptor_gain	1.0000
15:48153891:CACC:C	acceptor_gain	1.0000
15:48153894:CT:C	acceptor_loss	1.0000
15:48153895:T:A	acceptor_loss	1.0000
15:48157987:ACTT:A	donor_loss	1.0000
15:48157989:TTA:T	donor_loss	1.0000
15:48157990:T:TG	donor_loss	1.0000
15:48157991:A:AC	donor_gain	1.0000
15:48157991:AC:A	donor_loss	1.0000
15:48157992:C:CC	donor_gain	1.0000
15:48157992:C:CT	donor_loss	1.0000
15:48158053:CATC:C	acceptor_gain	1.0000
15:48158054:ATCC:A	acceptor_loss	1.0000
15:48158055:TC:T	acceptor_gain	1.0000
15:48158056:CC:C	acceptor_gain	1.0000
15:48158056:CCTA:C	acceptor_loss	1.0000
15:48158057:C:CC	acceptor_gain	1.0000
15:48158057:CT:C	acceptor_loss	1.0000

AlphaMissense

3989 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:48142930:A:T	V594D	1.000
15:48142936:A:T	I592N	1.000
15:48142941:T:A	R590S	1.000
15:48142941:T:G	R590S	1.000
15:48142942:C:A	R590I	1.000
15:48142942:C:G	R590T	1.000
15:48142943:T:C	R590G	1.000
15:48142978:G:T	A578D	1.000
15:48142987:G:T	A575D	1.000
15:48143004:A:C	F569L	1.000
15:48143004:A:T	F569L	1.000
15:48143005:A:C	F569C	1.000
15:48143005:A:G	F569S	1.000
15:48143006:A:G	F569L	1.000
15:48143006:A:T	F569I	1.000
15:48143011:A:T	V567D	1.000
15:48143012:C:A	V567F	1.000
15:48143017:C:A	G565V	1.000
15:48143017:C:T	G565E	1.000
15:48143018:C:G	G565R	1.000
15:48143018:C:T	G565R	1.000
15:48143021:A:G	C564R	1.000
15:48143023:C:A	G563V	1.000
15:48143023:C:T	G563D	1.000
15:48143024:C:A	G563C	1.000
15:48143024:C:G	G563R	1.000
15:48143024:C:T	G563S	1.000
15:48143025:T:A	K562N	1.000
15:48143025:T:G	K562N	1.000
15:48143027:T:C	K562E	1.000

dbSNP variants (sampled 300 via entrez): RS1000041790 (15:48162370 G>A), RS1000308736 (15:48134750 C>A,G,T), RS1000348687 (15:48141766 A>C), RS1000402693 (15:48177765 G>A), RS1000404281 (15:48141484 G>A), RS1000509603 (15:48157362 G>A), RS1000702479 (15:48156423 C>T), RS1000770339 (15:48141539 G>A,C,T), RS1000906189 (15:48136441 G>A,C,T), RS1000934922 (15:48163329 T>A,C), RS1000996211 (15:48172553 A>G,T), RS1001017669 (15:48164384 T>C), RS1001048631 (15:48163929 T>C), RS1001209885 (15:48177434 A>C), RS1001282651 (15:48172163 G>C)

Disease associations

OMIM: gene MIM:619395 | disease phenotypes: MIM:154700, MIM:607086, MIM:113750, MIM:203100

GenCC curated gene-disease

Mondo (4): Marfan syndrome (MONDO:0007947), familial thoracic aortic aneurysm and aortic dissection (MONDO:0019625), oculocutaneous albinism type 6 (MONDO:0018264), oculocutaneous albinism (MONDO:0018910)

Orphanet (5): Marfan syndrome type 1 (Orphanet:284963), Marfan syndrome (Orphanet:558), Familial thoracic aortic aneurysm and aortic dissection (Orphanet:91387), Oculocutaneous albinism type 6 (Orphanet:370097), Oculocutaneous albinism (Orphanet:55)

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST004219_4	Skin pigmentation	3.000000e-14

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D016115	Albinism, Oculocutaneous	C11.270.040.545; C16.320.290.040.100; C16.320.565.100.102.100; C16.320.850.080.100; C17.800.621.440.102.100; C17.800.827.080.100; C18.452.648.100.102.100
D008382	Marfan Syndrome	C05.116.099.674; C14.240.400.725; C14.280.400.725; C16.131.077.550; C16.131.240.400.720; C16.320.540; C17.300.500

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, affects expression, increases expression	6
bisphenol A	decreases methylation, decreases expression, affects cotreatment	3
trichostatin A	affects cotreatment, decreases expression	3
Formaldehyde	decreases expression, increases expression	3
Cadmium Chloride	increases abundance, increases expression	3
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression, decreases expression	2
Nickel	decreases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Cyclosporine	decreases expression, increases expression	2
FR900359	increases phosphorylation	1
methylmercuric chloride	decreases expression	1
decabromobiphenyl ether	decreases expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
beta-lapachone	decreases expression	1
sodium arsenite	increases abundance, increases expression	1
cobaltous chloride	decreases expression	1
tetrabromobisphenol A	decreases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
cyclic 3’,5’-uridine monophosphate	affects binding	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
abrine	increases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
dorsomorphin	decreases expression, affects cotreatment	1
pentabrominated diphenyl ether 100	decreases expression	1
hexabrominated diphenyl ether 153	decreases expression	1
jinfukang	affects cotreatment, decreases expression	1
LDN 193189	affects cotreatment, increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Decitabine	decreases expression, decreases reaction	1
Sunitinib	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT01295047	PHASE4	COMPLETED	Comparison of Medical Therapies in Marfan Syndrome.
NCT00429364	PHASE3	COMPLETED	Comparison of Two Medications Aimed at Slowing Aortic Root Enlargement in Individuals With Marfan Syndrome
NCT00485368	PHASE3	COMPLETED	Angiotensin Converting Enzyme Inhibitors in Marfan Syndrome
NCT00683124	PHASE3	UNKNOWN	Nebivolol Versus Losartan Versus Nebivolol+Losartan Against Aortic Root Dilation in Genotyped Marfan Patients
NCT00723801	PHASE3	COMPLETED	Effects of Losartan Versus Atenolol on Aortic and Cardiac Muscle Stiffness in Adults With Marfan Syndrome
NCT00763893	PHASE3	TERMINATED	Study of the Efficacy of Losartan on Aortic Dilatation in Patients With Marfan Syndrome
NCT00782327	PHASE3	COMPLETED	Randomized, Double-blind Study for the Evaluation of the Effect of Losartan Versus Placebo on Aortic Root Dilatation in Patients With Marfan Syndrome Under Treatment With Beta-blockers
NCT01145612	PHASE3	UNKNOWN	Atenolol Versus Losartan in the Prevention of Progressive Dilation of the Aorta in Marfan Syndrome
NCT01361087	PHASE3	WITHDRAWN	Circulating Transforming Growth Factor Beta (TGF-β) in Individuals With Marfan Syndrome
NCT01715207	PHASE3	COMPLETED	Comparison of Aliskiren vs Negative Controls on Aortic Stiffness in Patients With MFS
NCT00593710	PHASE2	COMPLETED	Losartan Versus Atenolol for the Treatment of Marfan Syndrome
NCT00651235	PHASE2	UNKNOWN	A Randomized, Open-label, LOSARTAN Therapy on the Progression of Aortic Root Dilation in Patients With Marfan Syndrome
NCT01949233	PHASE2	UNKNOWN	The Oxford Marfan Trial
NCT00001596	PHASE2	COMPLETED	Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak Syndrome
NCT01663935	PHASE2	TERMINATED	Vision Response to Dopamine Replacement
NCT00001641	Not specified	COMPLETED	Study of Heritable Connective Tissue Disorders
NCT00270686	Not specified	COMPLETED	Studies of Heritable Disorders of Connective Tissue
NCT01322165	Not specified	COMPLETED	National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions
NCT01707563	Not specified	COMPLETED	Clinical Variability in Marfan Syndrome
NCT01760668	Not specified	COMPLETED	Aortopathy in Persons With Bicuspid Aortic Valve, Turner and Marfan Syndrome
NCT02050113	Not specified	RECRUITING	Complex Aortic Aneurysm Repair Using Physician Modified Endografts and Custom Made Devices
NCT02111668	Not specified	COMPLETED	Thoracic Aortic Dilatation Syndromes
NCT02148900	Not specified	UNKNOWN	Development of a Blood Test for Marfan Syndrome
NCT02213484	Not specified	COMPLETED	Micro RNAs as a Marker of Aortic Aneurysm in Hereditary Aortopathy Syndromes
NCT02815072	Not specified	UNKNOWN	Generation of Marfan Syndrome and Fontan Cardiovascular Models Using Patient-specific Induced Pluripotent Stem Cells
NCT03236571	Not specified	COMPLETED	Cardiorespiratory and Muscular Rehabilitation of Children and Young Adults With Marfan Syndrome.
NCT03440697	Not specified	ACTIVE_NOT_RECRUITING	Pathogenetic Basis of Aortopathy and Aortic Valve Disease
NCT03567460	Not specified	COMPLETED	Children and Adolescents With Marfan Syndrome: 10,000 Healthy Steps and Beyond
NCT03581682	Not specified	COMPLETED	Tele-Clinic Visits in Pediatric Marfan Patients Using Parental Echo: The Future?
NCT04194619	Not specified	RECRUITING	Pregnancy in Women With Rare Multisystemic Vascular Diseases: COGRare5 Study
NCT04319107	Not specified	COMPLETED	Classifying Ectopia Lentis in Marfan Syndrome Into Five Grades of Increasing Severity
NCT04553094	Not specified	COMPLETED	Effects of Personalized Training at Home Combining Endurance and Resistance in Patients Suffering From Marfan Syndrome
NCT04641325	Not specified	COMPLETED	Marfan Syndrome Moderate Exercise Pilot
NCT04731493	Not specified	UNKNOWN	Effect on the Quality of Life of a Therapeutic Education Program in Patients With Marfan Syndrome
NCT04774172	Not specified	COMPLETED	Mortality and Morbidity Outcomes in Marfans
NCT04776668	Not specified	COMPLETED	Living With Marfan Syndrome and Your Aorta
NCT04776681	Not specified	COMPLETED	Living With Marfans and Your Aorta: Surgical Outcomes Study
NCT04970459	Not specified	RECRUITING	Biological Collection for Marfan and Related Syndromes
NCT05123339	Not specified	COMPLETED	Clinical Signs and Activity Limitations Associated With Dural Ectasia in Patients With Marfan Disease
NCT05389865	Not specified	ACTIVE_NOT_RECRUITING	Proximal Aortopathy in Scotland - Epidemiology and Surgical Outcomes