EMILIN2

Summary

EMILIN2 (elastin microfibril interfacer 2, HGNC:19881) is a protein-coding gene on chromosome 18p11.32-p11.31, encoding EMILIN-2 (Q9BXX0). May be responsible for anchoring smooth muscle cells to elastic fibers, and may be involved not only in the formation of the elastic fiber, but also in the processes that regulate vessel assembly.

Predicted to enable extracellular matrix constituent conferring elasticity. Involved in several processes, including positive regulation of angiogenesis; positive regulation of defense response to bacterium; and positive regulation of platelet aggregation. Located in extracellular region.

Source: NCBI Gene 84034 — RefSeq curated summary.

At a glance

• GWAS associations: 8
• Clinical variants (ClinVar): 269 total — 1 pathogenic
• Phenotypes (HPO): 1
• MANE Select transcript: NM_032048

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19881
Approved symbol	EMILIN2
Name	elastin microfibril interfacer 2
Location	18p11.32-p11.31
Locus type	gene with protein product
Status	Approved
Aliases	FLJ33200, FOAP-10
Ensembl gene	ENSG00000132205
Ensembl biotype	protein_coding
OMIM	608928
Entrez	84034

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 7 protein_coding, 1 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000254528, ENST00000308080, ENST00000583776, ENST00000894505, ENST00000939884, ENST00000942044, ENST00000942045, ENST00000942046, ENST00000942047

RefSeq mRNA: 1 — MANE Select: NM_032048 NM_032048

CCDS: CCDS11828

Canonical transcript exons

ENST00000254528 — 8 exons

Exon	Start	End
ENSE00000901867	2890561	2892486
ENSE00001255846	2906783	2907085
ENSE00001255866	2884964	2885139
ENSE00001255875	2847809	2847931
ENSE00002684327	2847006	2847322
ENSE00002693889	2913067	2916003
ENSE00003498812	2908943	2908975
ENSE00003590592	2909691	2909819

Expression profiles

Bgee: expression breadth ubiquitous, 211 present calls, max score 98.84.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 23.8985 / max 579.9723, expressed in 1375 samples.

FANTOM5 promoters (9 alternative TSS)

Promoter ID	TPM avg	Samples expressed
169119	13.5070	877
169122	2.5155	453
169120	2.2445	351
169130	1.7956	828
169131	1.6228	811
169118	1.3120	478
169117	0.4464	228
169121	0.2565	149
169116	0.1982	93

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
decidua	UBERON:0002450	98.84	gold quality
monocyte	CL:0000576	96.32	gold quality
mononuclear cell	CL:0000842	95.90	gold quality
leukocyte	CL:0000738	95.76	gold quality
stromal cell of endometrium	CL:0002255	94.58	gold quality
granulocyte	CL:0000094	94.42	gold quality
secondary oocyte	CL:0000655	92.18	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	91.34	gold quality
amniotic fluid	UBERON:0000173	90.01	gold quality
blood	UBERON:0000178	89.15	gold quality
parietal pleura	UBERON:0002400	89.11	gold quality
spinal cord	UBERON:0002240	88.95	gold quality
left uterine tube	UBERON:0001303	88.59	gold quality
omental fat pad	UBERON:0010414	88.34	gold quality
peritoneum	UBERON:0002358	88.26	gold quality
adipose tissue of abdominal region	UBERON:0007808	87.68	gold quality
apex of heart	UBERON:0002098	87.29	gold quality
right ovary	UBERON:0002118	87.24	gold quality
left ovary	UBERON:0002119	86.72	gold quality
right lung	UBERON:0002167	86.47	gold quality
upper lobe of left lung	UBERON:0008952	86.31	gold quality
subcutaneous adipose tissue	UBERON:0002190	86.24	gold quality
pleura	UBERON:0000977	85.38	gold quality
germinal epithelium of ovary	UBERON:0001304	85.37	gold quality
upper lobe of lung	UBERON:0008948	85.36	gold quality
heart left ventricle	UBERON:0002084	85.35	gold quality
body of uterus	UBERON:0009853	85.27	gold quality
endocervix	UBERON:0000458	85.17	gold quality
cardiac ventricle	UBERON:0002082	85.06	gold quality
placenta	UBERON:0001987	84.72	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-GEOD-111727	yes	1432.65
E-MTAB-9221	yes	26.39
E-ANND-3	yes	25.49
E-MTAB-5061	no	3.52

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

40 targeting EMILIN2, 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-1277-5P	100.00	73.95	5056
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-12118	100.00	65.88	1270
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-MIR-3173-3P	99.98	66.49	1217
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-9-3P	99.96	70.88	2068
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-557	99.96	70.01	1640
HSA-MIR-5195-3P	99.92	70.92	1877
HSA-MIR-145-5P	99.92	71.13	1836
HSA-MIR-6499-3P	99.90	66.38	1212
HSA-MIR-4302	99.89	67.94	1187
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-4428	99.73	66.41	1733
HSA-MIR-885-5P	99.59	68.59	879
HSA-MIR-4276	99.56	67.66	2514
HSA-MIR-6733-3P	99.54	67.80	1281
HSA-MIR-4325	99.49	72.20	1342
HSA-MIR-5693	99.24	66.67	1106
HSA-MIR-4477B	99.23	70.49	1733
HSA-MIR-1245B-5P	98.88	66.55	576
HSA-MIR-3142	98.88	66.09	529
HSA-MIR-7113-3P	98.75	65.71	1120
HSA-MIR-2115-5P	98.66	68.07	1191
HSA-MIR-1227-5P	98.65	65.32	1549

Literature-anchored findings (GeneRIF, showing 11)

• Results suggest that the expression of EMILIN2 triggers the apoptosis of different cell lines by activation of death receptors. (PMID:17698584)
• EMILIN1 interacts with anthrax protective antigen and inhibits toxin action in vitro. EMILIN1 may be a potential target and/or a protein useful for countermeasures against B. anthracis toxin lethality. (PMID:17988845)
• The possibility of using EMILIN2 fragments as potent antineoplastic tools for cancer treatment. (PMID:20360940)
• Apoptosis plays a fundamental role in maintaining epidermal homeostasis, balancing keratinocytes proliferation, and forming the stratum corneum. EMILIN2 is known to trigger the apoptosis of different cell lines (PMID:23593459)
• Identify emilin2 as a key extracellular regulator of the Wnt signalling pathway suppressing breast cancer cell growth and migration. (PMID:24374807)
• Data suggested mechanisms for homo- and hetero-typic EMILINs multimers formation: EMILIN1 or EMILIN2 alone can form trimers and multimers in the absence of each other or they can co-polymerize in a head-to-tail fashion to form hetero-typic multimers. (PMID:25445627)
• High EMILIN2 expression is associated with angiogenesis in B16 melanoma. (PMID:29483644)
• Loss of Multimerin-2 and EMILIN-2 Expression in Gastric Cancer Associate with Altered Angiogenesis (PMID:30544909)
• Expression, methylation and prognostic feature of EMILIN2 in Low-Grade-Glioma. (PMID:34280481)
• Decreased EMILIN2 correlates to metabolism phenotype and poor prognosis of ovarian cancer. (PMID:35588228)
• HPV-18 E6 enhances the interaction between EMILIN2 and SNX27 to promote WNT signaling. (PMID:38874360)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	emilin2a	ENSDARG00000061196
danio_rerio	emilin2b	ENSDARG00000102178
mus_musculus	Emilin2	ENSMUSG00000024053
rattus_norvegicus	Emilin2	ENSRNOG00000014837

Paralogs (4): EMILIN1 (ENSG00000138080), MMRN1 (ENSG00000138722), MMRN2 (ENSG00000173269), EMILIN3 (ENSG00000183798)

Protein

Protein identifiers

EMILIN-2 — Q9BXX0 (reviewed: Q9BXX0)

Alternative names: Elastin microfibril interface-located protein 2, Protein FOAP-10

All UniProt accessions (1): Q9BXX0

UniProt curated annotations — full annotation on UniProt →

Function. May be responsible for anchoring smooth muscle cells to elastic fibers, and may be involved not only in the formation of the elastic fiber, but also in the processes that regulate vessel assembly. Has cell adhesive capacity.

Subunit / interactions. Homotrimer associated through a moderately stable interaction of the C-terminal globular C1q domains, allowing the nucleation of the triple helix and then a further quaternary assembly to higher-order polymers via intermolecular disulfide bonds. Interacts with EMILIN1.

Subcellular location. Secreted. Extracellular space. Extracellular matrix.

Tissue specificity. Highest levels are present in fetal heart and adult lung. Intermediate levels in peripheral leukocytes, placenta, and spinal cord and low expression in fetal brain, spleen, thymus, and lung and in adult heart, aorta, testis, bone marrow, small intestine, thymus, lymph node, and appendix.

RefSeq proteins (1): NP_114437* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001073	C1q_dom	Domain
IPR008983	Tumour_necrosis_fac-like_dom	Homologous_superfamily
IPR011489	EMI_domain	Domain
IPR050392	Collagen/C1q_domain	Family

Pfam: PF00386, PF07546

UniProt features (31 total): glycosylation site 8, coiled-coil region 4, compositionally biased region 4, domain 3, disulfide bond 3, sequence variant 3, region of interest 3, signal peptide 1, chain 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BXX0-F1	65.88	0.08

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Disulfide bonds (3): 48–110, 74–81, 109–118

Glycosylation sites (8): 55, 275, 458, 510, 587, 616, 745, 974

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-2129379	Molecules associated with elastic fibres

MSigDB gene sets: 208 (showing top): GOBP_REGULATION_OF_CELL_ACTIVATION, GOBP_REGULATION_OF_BLOOD_PRESSURE, GOBP_REGULATION_OF_WOUND_HEALING, GOBP_CIRCULATORY_SYSTEM_PROCESS, GOBP_REGULATION_OF_COAGULATION, GOCC_COLLAGEN_TRIMER, GOBP_PLATELET_ACTIVATION, GOBP_POSITIVE_REGULATION_OF_VASCULATURE_DEVELOPMENT, GOBP_POSITIVE_REGULATION_OF_COAGULATION, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, LANG_MYB_FAMILY_TARGETS, CLASPER_LYMPHATIC_VESSELS_DURING_METASTASIS_DN, GOBP_POSITIVE_REGULATION_OF_CELL_ADHESION, SRF_Q5_01, GOBP_WOUND_HEALING

GO Biological Process (11): regulation of blood pressure (GO:0008217), positive regulation of blood coagulation (GO:0030194), negative regulation of cell migration (GO:0030336), cell adhesion mediated by integrin (GO:0033627), regulation of cell population proliferation (GO:0042127), positive regulation of apoptotic process (GO:0043065), positive regulation of angiogenesis (GO:0045766), positive regulation of defense response to bacterium (GO:1900426), positive regulation of platelet aggregation (GO:1901731), cell adhesion (GO:0007155), positive regulation of multicellular organismal process (GO:0051240)

GO Molecular Function (2): extracellular matrix constituent conferring elasticity (GO:0030023), protein binding (GO:0005515)

GO Cellular Component (4): extracellular region (GO:0005576), collagen trimer (GO:0005581), extracellular matrix (GO:0031012), EMILIN complex (GO:1990971)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Elastic fibre formation	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
blood circulation	1
regulation of biological quality	1
blood coagulation	1
regulation of blood coagulation	1
positive regulation of coagulation	1
positive regulation of wound healing	1
positive regulation of hemostasis	1
cell migration	1
regulation of cell migration	1
negative regulation of cell motility	1
cell adhesion	1
cell population proliferation	1
regulation of cellular process	1
apoptotic process	1
regulation of apoptotic process	1
positive regulation of programmed cell death	1
angiogenesis	1
regulation of angiogenesis	1
positive regulation of vasculature development	1
positive regulation of response to biotic stimulus	1
positive regulation of defense response	1
positive regulation of response to external stimulus	1
defense response to bacterium	1
regulation of defense response to bacterium	1
positive regulation of homotypic cell-cell adhesion	1
platelet aggregation	1
regulation of platelet aggregation	1
cellular process	1
multicellular organismal process	1
positive regulation of biological process	1
regulation of multicellular organismal process	1
extracellular matrix structural constituent	1
structural molecule activity conferring elasticity	1
binding	1
cellular anatomical structure	1
protein-containing complex	1
external encapsulating structure	1
elastic fiber	1
protein complex involved in cell-matrix adhesion	1
extracellular protein-containing complex	1

Protein interactions and networks

STRING

392 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
EMILIN2	TNFRSF10B	O14763	684
EMILIN2	TNFRSF10A	O00220	654
EMILIN2	CLUL1	Q15846	447
EMILIN2	MGAT1	P26572	432
EMILIN2	EPGN	Q6UW88	423
EMILIN2	LEMD3	Q9Y2U8	421
EMILIN2	GARS1	P41250	413
EMILIN2	DDOST	P39656	410
EMILIN2	YARS1	P54577	410
EMILIN2	CDR2L	Q86X02	396
EMILIN2	MYOM1	P52179	393
EMILIN2	TMED10	P49755	385
EMILIN2	C1QTNF6	Q9BXI9	384
EMILIN2	TRAM1	Q15629	382
EMILIN2	EPRS1	P07814	381

IntAct

38 interactions, top by confidence:

A	B	Type	Score
DEFA5	NUDT19	psi-mi:“MI:0914”(association)	0.530
OS9	AGRN	psi-mi:“MI:0914”(association)	0.530
TRHDE	MAN1A2	psi-mi:“MI:0914”(association)	0.530
FBXO2	TMEM131L	psi-mi:“MI:0914”(association)	0.530
EMILIN2	ARMS2	psi-mi:“MI:0915”(physical association)	0.370
FCN1	EMILIN2	psi-mi:“MI:0915”(physical association)	0.370
TNIP1	COCH	psi-mi:“MI:0914”(association)	0.350
TNIP2	TMEM178B	psi-mi:“MI:0914”(association)	0.350
PCDHGB4	FAM171A2	psi-mi:“MI:0914”(association)	0.350
PCDHB11	CBX4	psi-mi:“MI:0914”(association)	0.350
NELL1	MATN2	psi-mi:“MI:0914”(association)	0.350
NELL2	MATN2	psi-mi:“MI:0914”(association)	0.350
OS9	GXYLT2	psi-mi:“MI:0914”(association)	0.350
FBLN5	ZNF320	psi-mi:“MI:0914”(association)	0.350
NOTCH2	ZNF320	psi-mi:“MI:0914”(association)	0.350
LRP3	TMEM131L	psi-mi:“MI:0914”(association)	0.350
LLCFC1	POTEF	psi-mi:“MI:0914”(association)	0.350
CCL3	KRBA1	psi-mi:“MI:0914”(association)	0.350
TMEM59	GPR89A	psi-mi:“MI:0914”(association)	0.350
CCL3L1	QSOX1	psi-mi:“MI:0914”(association)	0.350
MFAP5	MANBA	psi-mi:“MI:0914”(association)	0.350

BioGRID (35): EMILIN2 (Affinity Capture-MS), EMILIN2 (Affinity Capture-MS), EMILIN2 (Affinity Capture-MS), EMILIN2 (Affinity Capture-MS), EMILIN2 (Affinity Capture-MS), EMILIN2 (Affinity Capture-MS), EMILIN2 (Affinity Capture-MS), EMILIN2 (Two-hybrid), EMILIN2 (Affinity Capture-MS), EMILIN2 (Affinity Capture-MS), EMILIN2 (Affinity Capture-MS), EMILIN2 (Affinity Capture-MS), EMILIN2 (Affinity Capture-MS), EMILIN2 (Affinity Capture-MS), EMILIN2 (Affinity Capture-MS)

ESM2 similar proteins: A2VE53, A5PJQ2, A5PMY6, A6H6E2, A6QP79, A8WGB1, F1QC17, O35550, O35551, O70340, O75071, O94901, P21757, P21758, P30204, P47970, P47971, P47972, P97738, P97927, Q05585, Q07065, Q15276, Q15818, Q16363, Q2LK54, Q3MI99, Q4V885, Q5EAJ6, Q5KU26, Q5RFW0, Q5RI56, Q62443, Q6AZY7, Q6P132, Q6P402, Q6ZMJ2, Q70UQ0, Q8BGQ6, Q8BMK4

Diamond homologs: A6H6E2, F1QC17, P59900, Q13201, Q8K482, Q91VF6, Q96A83, Q96A84, Q99K41, Q9BXX0, Q9H8L6, Q9NT22, Q9Y6C2, B2RPV6, Q5RJ80, Q8BVD7, Q91VF5, Q9BXJ2, Q9W332, A0A060WQA3, A5PN28, A6NHN0, B2RNN3, O75973, O88992, P02745, P02746, P02747, P08125, P0C862, P14282, P23206, P23435, P25067, P25318, P27658, P31720, P63182, P83371, P86437

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	206
Likely benign	30
Benign	15

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
1180530	GRCh37/hg19 18p11.32-11.31(chr18:64996-6838315)x1	Pathogenic

SpliceAI

1773 predictions. Top by Δscore:

Variant	Effect	Δscore
18:2847323:G:GG	donor_gain	1.0000
18:2847930:GT:G	donor_gain	1.0000
18:2847932:G:GG	donor_gain	1.0000
18:2892483:GCAA:G	donor_gain	1.0000
18:2892487:G:GG	donor_gain	1.0000
18:2913062:CGCAG:C	acceptor_loss	1.0000
18:2913063:GCAG:G	acceptor_loss	1.0000
18:2913064:CAGGG:C	acceptor_loss	1.0000
18:2913065:A:AG	acceptor_gain	1.0000
18:2913065:A:AT	acceptor_loss	1.0000
18:2913065:AG:A	acceptor_gain	1.0000
18:2913065:AGG:A	acceptor_gain	1.0000
18:2913066:G:GT	acceptor_gain	1.0000
18:2913066:GG:G	acceptor_gain	1.0000
18:2913066:GGG:G	acceptor_gain	1.0000
18:2913066:GGGGT:G	acceptor_gain	1.0000
18:2847322:AG:A	donor_loss	0.9900
18:2847323:G:A	donor_loss	0.9900
18:2847324:T:A	donor_loss	0.9900
18:2847799:T:A	acceptor_gain	0.9900
18:2847802:A:AG	acceptor_gain	0.9900
18:2847803:C:G	acceptor_gain	0.9900
18:2847862:G:GT	donor_gain	0.9900
18:2847862:G:T	donor_gain	0.9900
18:2847927:CTGGT:C	donor_gain	0.9900
18:2847928:TGGT:T	donor_gain	0.9900
18:2847929:GGTG:G	donor_gain	0.9900
18:2847932:G:A	donor_loss	0.9900
18:2847933:T:TG	donor_loss	0.9900
18:2847934:AA:A	donor_loss	0.9900

AlphaMissense

6901 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
18:2885027:G:C	W107C	0.999
18:2885027:G:T	W107C	0.999
18:2913096:T:G	Y952D	0.999
18:2913144:G:C	A968P	0.999
18:2885031:T:A	C109S	0.998
18:2885032:G:C	C109S	0.998
18:2909772:T:C	F926S	0.998
18:2909804:T:G	Y937D	0.998
18:2913073:T:C	F944S	0.998
18:2913100:T:C	L953P	0.998
18:2913108:G:C	A956P	0.998
18:2913115:T:C	L958P	0.998
18:2913151:T:C	L970P	0.998
18:2913358:C:T	S1039F	0.998
18:2913366:A:C	S1042R	0.998
18:2913368:T:A	S1042R	0.998
18:2913368:T:G	S1042R	0.998
18:2885025:T:A	W107R	0.997
18:2885025:T:C	W107R	0.997
18:2885058:T:A	C118S	0.997
18:2885059:G:C	C118S	0.997
18:2909718:T:C	F908S	0.997
18:2913109:C:A	A956D	0.997
18:2913181:T:C	L980P	0.997
18:2913357:T:C	S1039P	0.997
18:2885031:T:C	C109R	0.996
18:2909717:T:C	F908L	0.996
18:2909719:T:A	F908L	0.996
18:2909719:T:G	F908L	0.996
18:2909720:T:C	S909P	0.996

dbSNP variants (sampled 300 via entrez): RS1000013838 (18:2866317 C>A,T), RS1000015052 (18:2871074 A>G), RS1000043863 (18:2907023 G>A,C), RS1000073970 (18:2853458 T>C), RS1000157175 (18:2851748 G>A,C), RS1000181326 (18:2883417 G>A), RS1000216448 (18:2876227 C>T), RS1000216608 (18:2886537 G>A), RS1000271343 (18:2910812 TTA>T), RS1000273498 (18:2906289 C>A), RS1000316140 (18:2880880 G>A,T), RS1000340081 (18:2847549 C>G,T), RS1000436266 (18:2911061 A>G), RS1000473446 (18:2875544 C>A,T), RS1000508368 (18:2884756 T>C)

Disease associations

OMIM: gene MIM:608928 | disease phenotypes: MIM:158901

GenCC curated gene-disease

Mondo (3): hypertrophic cardiomyopathy (MONDO:0005045), facioscapulohumeral muscular dystrophy 2 (MONDO:0008031), neurodevelopmental disorder (MONDO:0700092)

Orphanet (2): Rare hypertrophic cardiomyopathy (Orphanet:217569), Facioscapulohumeral dystrophy (Orphanet:269)

HPO phenotypes

1 total (1 of 1 shown, HPO-id order):

HPO	Term
HP:0001639	Hypertrophic cardiomyopathy

GWAS associations

8 associations (top):

Study	Trait	p-value
GCST010244_83	Triglyceride levels	2.000000e-09
GCST90020024_797	A body shape index	5.000000e-24
GCST90020025_1463	Waist-to-hip ratio adjusted for BMI	4.000000e-37
GCST90020026_78	Hip index	1.000000e-12
GCST90020027_125	Waist-hip index	7.000000e-38
GCST90020027_176	Waist-hip index	5.000000e-08
GCST90020028_1295	Hip circumference adjusted for BMI	4.000000e-10
GCST90020029_501	Waist circumference adjusted for body mass index	6.000000e-21

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0004530	triglyceride measurement
EFO:0007789	BMI-adjusted waist circumference
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0008039	BMI-adjusted hip circumference

MeSH disease descriptors (3)

Descriptor	Name	Tree numbers
D002312	Cardiomyopathy, Hypertrophic	C14.280.238.100; C14.280.484.048.750.070.160
D065886	Neurodevelopmental Disorders	F03.625
C563557	Facioscapulohumeral Muscular Dystrophy 1B (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Nickel	increases expression	2
Phenylmercuric Acetate	increases expression, affects cotreatment	2
Tobacco Smoke Pollution	affects expression, decreases expression	2
Valproic Acid	increases expression, increases methylation	2
Aflatoxin B1	decreases expression, decreases methylation	2
GSK-J4	decreases expression	1
methylmercuric chloride	increases expression	1
arsenite	increases methylation	1
sodium arsenite	increases expression	1
butyraldehyde	increases expression	1
benzo(e)pyrene	affects methylation	1
pentanal	increases expression	1
entinostat	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
ICG 001	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Temozolomide	increases expression	1
Sunitinib	decreases expression	1
Arsenic	affects methylation	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Cisplatin	increases expression	1
Dexamethasone	increases expression	1
Doxorubicin	increases expression	1
Lead	affects methylation	1
Methapyrilene	affects methylation	1
Plant Extracts	affects cotreatment, increases expression	1
Smoke	decreases expression	1
Dronabinol	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00879060	PHASE4	COMPLETED	Clinical and Therapeutic Implications of Fibrosis in Hypertrophic Cardiomyopathy
NCT01721967	PHASE4	COMPLETED	Ranolazine for the Treatment of Chest Pain in HCM Patients
NCT02948998	PHASE4	UNKNOWN	Evaluating the Effect of Spironolactone on Hypertrophic Cardiomyopathy
NCT03249272	PHASE4	TERMINATED	Microvascular Dysfunction in Nonischemic Cardiomyopathy: Insights From CMR Assessment of Coronary Flow Reserve
NCT04133532	PHASE4	COMPLETED	Effect of Metoprolol in Post Alcohol Septal Ablation Patients With Hypertrophic Cardiomyopathy
NCT06401343	PHASE4	RECRUITING	Use of SGLT2i in noHCM With HFpEF
NCT07103655	PHASE4	NOT_YET_RECRUITING	The Therapeutic Value of Mavacamten in Hypertrophic Cardiomyopathy With Mid-to-Apical Left Ventricular Obstruction
NCT07600177	PHASE4	RECRUITING	Mavacamten to Aficamten Transition in Patients With Obstructive Hypertrophic Cardiomyopathy
NCT00317967	PHASE3	COMPLETED	Study to Determine if Atorvastatin Reduces Size and Stiffness of Muscle in the Left Ventricle of the Heart
NCT00698074	PHASE3	UNKNOWN	Diastolic Ventricular Interaction and the Effects of Biventricular Pacing in Hypertrophic Cardiomyopathy
NCT00821353	PHASE3	COMPLETED	Antiarrhythmic Therapy Versus Catheter Ablation for Atrial Fibrillation in Hypertrophic Cardiomyopathy
NCT02431221	PHASE3	WITHDRAWN	Efficacy, Safety, and Tolerability of Perhexiline in Subjects With Hypertrophic Cardiomyopathy and Heart Failure
NCT03470545	PHASE3	COMPLETED	Clinical Study to Evaluate Mavacamten (MYK-461) in Adults With Symptomatic Obstructive Hypertrophic Cardiomyopathy
NCT05174416	PHASE3	COMPLETED	A Study to Evaluate the Efficacy and Safety of Mavacamten in Chinese Adults With Symptomatic Obstructive HCM
NCT05182658	PHASE3	ACTIVE_NOT_RECRUITING	Empagliflozin in Hypertrophic Cardiomyopathy
NCT05186818	PHASE3	COMPLETED	Phase 3 Trial to Evaluate the Efficacy and Safety of Aficamten Compared to Placebo in Adults With Symptomatic oHCM
NCT05767346	PHASE3	COMPLETED	Phase 3 Trial to Evaluate the Efficacy and Safety of Aficamten Compared to Metoprolol Succinate in Adults With Symptomatic oHCM
NCT06116968	PHASE3	COMPLETED	An Open-Label Study of Aficamten for Chinese Patients With Symptomatic oHCM
NCT06873828	PHASE3	NOT_YET_RECRUITING	Evaluation of the Efficacy and Safety of Wearable ECG (AT-Patch) in Patients With Hypertrophic Cardiomyopathy Requiring 48-Hour Holter MonitoringEvaluation of the Efficacy and Safety of Wearable ECG (AT-Patch) in Patients With Hypertrophic Cardiomyopathy Requiring 48-Hour Holter Monitoring
NCT07021976	PHASE3	RECRUITING	A Phase III Trial of HRS-1893 in Patients With Obstructive Hypertrophic Cardiomyopathy
NCT07023341	PHASE3	ACTIVE_NOT_RECRUITING	A Study to Learn More About How Well Aficamten Works in Japanese Participants With Symptomatic Obstructive Hypertrophic Cardiomyopathy
NCT07202897	PHASE3	NOT_YET_RECRUITING	LA-HCM Study : Rivaroxaban for Antithrombotic Prevention in Hypertrophic Cardiomyopathy Patients With Abnormal Left Atrial Strain.
NCT07038200	PHASE3	RECRUITING	A Study to Evaluate Del-brax (Also Referred to as AOC 1020) in Participants With FSHD
NCT00001631	PHASE2	COMPLETED	Study of Blood Flow in Heart Muscle
NCT00001894	PHASE2	COMPLETED	A Comparison of Two Treatments: Pacemaker and Percutaneous Transluminal Septal Ablation for Hypertrophic Cardiomyopathy
NCT00001960	PHASE2	COMPLETED	Studying the Effectiveness of Pacemaker Therapy in Children Who Have Thickened Heart Muscle
NCT00011076	PHASE2	COMPLETED	Pirfenidone to Treat Hypertrophic Cardiomyopathy
NCT00035386	PHASE2	COMPLETED	Alcohol Septal Ablation in Obstructive Hypertrophic Cardiomyopathy: A Pilot Study
NCT00430833	PHASE2	UNKNOWN	CHANCE - Candesartan in Hypertrophic Cardiomyopathy
NCT00500552	PHASE2	COMPLETED	Perhexiline Therapy in Patients With Hypertrophic Cardiomyopathy
NCT01150461	PHASE2	COMPLETED	Effect of Losartan in Patients With Nonobstructive Hypertrophic Cardiomyopathy
NCT01230918	PHASE2	TERMINATED	Study to Develop a Non-invasive Marker for Monitoring Myocardial Fibrosis
NCT01447654	PHASE2	COMPLETED	Inhibition of the Renin Angiotensin System With Losartan in Patients With Hypertrophic Cardiomyopathy
NCT01696370	PHASE2	UNKNOWN	Trimetazidine Therapy in Hypertrophic Cardiomyopathy
NCT01912534	PHASE2	COMPLETED	Valsartan for Attenuating Disease Evolution In Early Sarcomeric HCM
NCT02590809	PHASE2	COMPLETED	Hypertrophic Cardiomyopathy Symptom Release by BX1514M
NCT03496168	PHASE2	COMPLETED	Extension Study of Mavacamten (MYK-461) in Adults With Symptomatic Obstructive Hypertrophic Cardiomyopathy Previously Enrolled in PIONEER
NCT03532802	PHASE2	COMPLETED	The Effect of Metoprolol in Patients With Hypertrophic Obstructive Cardiomyopathy.
NCT03832660	PHASE2	COMPLETED	Sacubitril/Valsartan vs Lifestyle in Hypertrophic Cardiomyopathy
NCT04219826	PHASE2	COMPLETED	Dose-finding Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of CK-3773274 in Adults With Hypertrophic Cardiomyopathy