OBSCN

Summary

OBSCN (obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF, HGNC:15719) is a protein-coding gene on chromosome 1q42.13, encoding Obscurin (Q5VST9). Structural component of striated muscles which plays a role in myofibrillogenesis.

The obscurin gene spans more than 150 kb, contains over 80 exons and encodes a protein of approximately 720 kDa. The encoded protein contains 68 Ig domains, 2 fibronectin domains, 1 calcium/calmodulin-binding domain, 1 RhoGEF domain with an associated PH domain, and 2 serine-threonine kinase domains. This protein belongs to the family of giant sacromeric signaling proteins that includes titin and nebulin, and may have a role in the organization of myofibrils during assembly and may mediate interactions between the sarcoplasmic reticulum and myofibrils. Alternatively spliced transcript variants encoding different isoforms have been identified.

Source: NCBI Gene 84033 — RefSeq curated summary.

At a glance

• Gene–disease (curated): rhabdomyolysis, susceptibility to, 1 (Strong, GenCC) — +3 more curated relationships
• GWAS associations: 6
• Clinical variants (ClinVar): 5,888 total — 32 pathogenic, 24 likely-pathogenic
• Phenotypes (HPO): 44
• MANE Select transcript: NM_001386125

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15719
Approved symbol	OBSCN
Name	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF
Location	1q42.13
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1556, UNC89, KIAA1639, ARHGEF30
Ensembl gene	ENSG00000154358
Ensembl biotype	protein_coding
OMIM	608616
Entrez	84033

Gene structure

Transcript identifiers

Ensembl transcripts: 28 — 12 protein_coding, 7 retained_intron, 6 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined, 1 non_stop_decay

ENST00000284548, ENST00000366704, ENST00000366706, ENST00000422127, ENST00000474237, ENST00000483539, ENST00000493977, ENST00000494839, ENST00000570156, ENST00000602685, ENST00000602832, ENST00000636476, ENST00000659732, ENST00000660585, ENST00000660606, ENST00000660857, ENST00000662438, ENST00000663720, ENST00000664353, ENST00000664561, ENST00000664862, ENST00000664957, ENST00000665495, ENST00000668066, ENST00000668629, ENST00000668943, ENST00000669688, ENST00000680850

RefSeq mRNA: 4 — MANE Select: NM_001386125 NM_001098623, NM_001271223, NM_001386125, NM_052843

CCDS: CCDS1570, CCDS58065, CCDS59204, CCDS91171

Canonical transcript exons

ENST00000680850 — 116 exons

Exon	Start	End
ENSE00000850950	228374314	228374424
ENSE00000850953	228376008	228376178
ENSE00001015446	228351321	228351450
ENSE00001069795	228334815	228334913
ENSE00001069797	228315847	228316119
ENSE00001069798	228333583	228333780
ENSE00001069800	228338853	228339026
ENSE00001069801	228340506	228340622
ENSE00001069805	228337944	228338144
ENSE00001069807	228306372	228306638
ENSE00001069808	228338290	228338372
ENSE00001069809	228323328	228323606
ENSE00001069810	228309099	228309295
ENSE00001069811	228336200	228336270
ENSE00001069814	228335080	228335298
ENSE00001069816	228334512	228334544
ENSE00001069820	228340724	228340888
ENSE00001069822	228307259	228307531
ENSE00001069823	228317892	228318173
ENSE00001069827	228306901	228307167
ENSE00001069829	228339945	228340101
ENSE00001069830	228332860	228332938
ENSE00001069834	228309484	228309559
ENSE00001069838	228350841	228350943
ENSE00001069840	228342119	228342232
ENSE00001069842	228341095	228341253
ENSE00001069843	228333199	228333323
ENSE00001069846	228341437	228341614
ENSE00001069848	228335791	228335851
ENSE00001069850	228317464	228317751
ENSE00001069853	228337004	228337126
ENSE00001069854	228318884	228319254
ENSE00001069855	228308111	228308383
ENSE00001069867	228321344	228322214
ENSE00001069870	228316709	228316984
ENSE00001069874	228337244	228337383
ENSE00001228273	228378271	228378420
ENSE00001228279	228377931	228378006
ENSE00001228287	228377489	228377712
ENSE00001228294	228377052	228377291
ENSE00001228302	228376793	228376874
ENSE00001228313	228375702	228375824
ENSE00001228318	228374585	228374752
ENSE00001228326	228373932	228374012
ENSE00001228331	228371023	228373081
ENSE00001228335	228370679	228370756
ENSE00001228344	228370193	228370238
ENSE00001228349	228369942	228370094
ENSE00001273743	228352951	228353062
ENSE00001273763	228349890	228350057
ENSE00001442356	228368722	228368894
ENSE00001442357	228368339	228368416
ENSE00001442358	228367886	228367946
ENSE00001442359	228366975	228367175
ENSE00001442360	228366808	228366889
ENSE00001442361	228366400	228366568
ENSE00001442362	228366074	228366186
ENSE00001442363	228365436	228365560
ENSE00001442364	228364981	228365077
ENSE00001442365	228362576	228362755
ENSE00001545513	228271925	228272221
ENSE00001545515	228369136	228369162
ENSE00001944542	228277505	228277666
ENSE00002336828	228286078	228286350
ENSE00002338706	228298454	228298717
ENSE00002339635	228291898	228292161
ENSE00002351853	228304303	228304566
ENSE00002353923	228283503	228283769
ENSE00002356246	228294780	228295043
ENSE00002358105	228259501	228259776
ENSE00002358473	228287694	228287960
ENSE00002379086	228288625	228288888
ENSE00002389223	228273272	228273547
ENSE00002394436	228292523	228292786
ENSE00002398935	228293353	228293616
ENSE00002423642	228286773	228287039
ENSE00002424455	228288061	228288324
ENSE00002424782	228294152	228294415
ENSE00002604035	228305123	228305386
ENSE00003380583	228219324	228219599
ENSE00003467421	228280530	228280796
ENSE00003488373	228217013	228217288
ENSE00003489711	228303675	228303938
ENSE00003506651	228299259	228299522
ENSE00003517942	228281933	228282205
ENSE00003574290	228299882	228300145
ENSE00003628894	228216421	228216702
ENSE00003712062	228275760	228276026
ENSE00003712443	228274178	228274444
ENSE00003714432	228283018	228283284
ENSE00003714549	228264116	228264391
ENSE00003716664	228279821	228280087
ENSE00003719622	228268530	228268805
ENSE00003720099	228246528	228246803
ENSE00003721152	228280179	228280445
ENSE00003721318	228276930	228277042
ENSE00003722775	228277754	228277858
ENSE00003723641	228256651	228256926
ENSE00003724058	228278689	228278955
ENSE00003729467	228213441	228213710
ENSE00003731094	228277160	228277313
ENSE00003732646	228215563	228215829
ENSE00003734484	228224459	228224734
ENSE00003734900	228243183	228243458
ENSE00003735010	228214790	228215098
ENSE00003735847	228249965	228250240
ENSE00003739525	228279175	228279444
ENSE00003744962	228245413	228245688
ENSE00003748332	228211766	228212771
ENSE00003751405	228276450	228276716
ENSE00003751498	228214174	228214434
ENSE00003752546	228274572	228274841
ENSE00003753817	228244296	228244571
ENSE00003754850	228273770	228274048
ENSE00003881780	228378618	228378876
ENSE00003905141	228208044	228208185

Expression profiles

Bgee: expression breadth ubiquitous, 197 present calls, max score 99.48.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.6097 / max 673.3453, expressed in 1324 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
8938	10.2661	1304
8935	2.6622	84
8936	0.2482	32
8937	0.2183	79
8947	0.1236	58
8946	0.0761	34
201983	0.0152	11

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
hindlimb stylopod muscle	UBERON:0004252	99.48	gold quality
apex of heart	UBERON:0002098	99.43	gold quality
gastrocnemius	UBERON:0001388	98.92	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	98.07	gold quality
right atrium auricular region	UBERON:0006631	97.72	gold quality
muscle of leg	UBERON:0001383	97.68	gold quality
heart left ventricle	UBERON:0002084	97.11	gold quality
cardiac ventricle	UBERON:0002082	96.96	gold quality
body of tongue	UBERON:0011876	95.94	gold quality
biceps brachii	UBERON:0001507	95.72	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	95.38	gold quality
cardiac atrium	UBERON:0002081	94.86	gold quality
right hemisphere of cerebellum	UBERON:0014890	94.22	gold quality
cerebellar hemisphere	UBERON:0002245	93.41	gold quality
heart	UBERON:0000948	93.38	gold quality
cerebellar cortex	UBERON:0002129	93.13	gold quality
skeletal muscle organ	UBERON:0014892	92.41	gold quality
muscle organ	UBERON:0001630	92.38	gold quality
sural nerve	UBERON:0015488	91.60	gold quality
lower esophagus mucosa	UBERON:0035834	91.55	gold quality
right uterine tube	UBERON:0001302	91.13	gold quality
heart right ventricle	UBERON:0002080	90.86	gold quality
adenohypophysis	UBERON:0002196	90.46	gold quality
left lobe of thyroid gland	UBERON:0001120	90.16	gold quality
caudate nucleus	UBERON:0001873	90.07	gold quality
right lobe of thyroid gland	UBERON:0001119	90.06	gold quality
putamen	UBERON:0001874	90.02	gold quality
cerebellum	UBERON:0002037	89.78	gold quality
pituitary gland	UBERON:0000007	89.64	gold quality
nucleus accumbens	UBERON:0001882	89.53	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	8.17
E-MTAB-11268	no	1960.49

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

14 targeting OBSCN, 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-4728-5P	99.85	69.39	4718
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-10394-5P	99.65	66.83	1852
HSA-MIR-1205	99.65	66.76	1826
HSA-MIR-3158-5P	99.65	67.51	1763
HSA-MIR-7160-5P	99.11	67.17	2207
HSA-MIR-1294	98.91	69.26	1030
HSA-MIR-9986	98.91	69.28	1024
HSA-MIR-3922-5P	98.77	66.53	1059
HSA-MIR-4704-3P	98.28	69.33	1300
HSA-MIR-4690-3P	97.02	64.72	981
HSA-MIR-4264	96.35	64.76	1480

Literature-anchored findings (GeneRIF, showing 28)

• Results suggest that obscurin binds small ankyrin 1, and document a specific and direct interaction between proteins of the sarcomere and the sarcoplasmic reticulum. (PMID:12631729)
• The complete gene giant muscle protein obscurin was analysed. The fusion of the conventional obscurin A, containing only the GEF domain, and obscurin B, fusing into the 3’ kinase exons, was experimentally confirmed and analysed. (PMID:16625316)
• OBSCN and C9orf65 comprise a highly accurate two-gene classifier for differentiating gastrointestinal stromal tumors and leiomyosarcomas. (PMID:17360660)
• Studies suggest that the obscurin abnormality may be involved in the pathogenesis of hypertrophic cardiomyopathy. (PMID:17716621)
• Structural and mutational studies of the binding region on small Ank1 for obscurin suggest that it consists of two ankyrin repeats with very similar structures. (PMID:17720975)
• Obscurin was never lacking in myofibrillar alterations, but was either preserved at the M-band level or diffusely spread over the sarcomeres. (PMID:18350308)
• These findings reveal a novel signaling pathway in human skeletal muscle that involves obscurin and the Rho GTPase TC10 and implicate this pathway in new sarcomere formation. (PMID:19258391)
• Results describe the molecular basis for the head-to-tail interaction of the carboxyl terminus of titin and the amino-terminus of obscurin-like-1 by X-ray crystallography. (PMID:20489725)
• OBSCN polymorphisms, in particular, highly conserved nonsynonymous Leu2116Phe variant, might contribute to aspirin hypersensitivity in asthmatics (PMID:22251166)
• Nontumorigenic MCF10A breast epithelial cells stably transduced with shRNAs targeting giant obscurins exhibited increased viability ( approximately 30%) and reduced apoptosis ( approximately 20%) following exposure to the DNA-damaging agent etoposide. (PMID:22441987)
• Obscurin and KCTD6 regulate cullin-dependent small ankyrin-1 (sAnk1.5) protein turnover (PMID:22573887)
• Loss of the obscurin-RhoGEF downregulates RhoA signaling and increases microtentacle formation and attachment of breast epithelial cells. (PMID:25261370)
• Findings indicate that loss of giant obscurins from breast epithelium results in disruption of the cell-cell contacts and acquisition of a mesenchymal phenotype that leads to enhanced tumorigenesis, migration and invasiveness in vitro and in vivo. (PMID:25381817)
• this study presents here the X-ray structure of the human titin:obscurin M10:O1 complex extending our previous work on the M10:OL1 interaction. (PMID:25490259)
• Gene-based association analyses shows nominal significant association with multifocal fibromuscular dysplasia for obscurin. (PMID:26147384)
• OBSCN mutations may result in the development of a familial dilated cardiomyopathy (DCM) phenotype via haploinsufficiency. These mutations should be considered as a significant causal factor of DCM, alone or in concert with other mutations. (PMID:26406308)
• demonstrate that loss of giant obscurins from breast epithelial cells is associated with significantly increased phosphorylation and subsequent activation of the PI3K signaling cascade (PMID:27323778)
• association of frameshift and splicing variants, all clustering to the C terminus of the same isoform group, with occurrence of rare left ventricular noncompaction phenotype (PMID:27855815)
• Crystal structure of the obscurin(-like-1):myomesin complex reveals a trans-complementation mechanism whereby an incomplete immunoglobulin-like domain assimilates an isoform-specific myomesin interdomain sequence. (PMID:27989621)
• suggest that the combination of the OBSCN p.Arg4444Trp variant and of the FLNC c.5161delG mutation, can cooperatively affect myofibril stability and increase the penetrance of muscular dystrophy in the French family (PMID:29073160)
• This study finds in all cases tested that tandem obscurin Ig domains interact at the poles of each domain and tend to stay relatively extended in solution. NMR, SAXS, and MD simulations reveal that while tandem domains are elongated, they also bend and flex significantly. (PMID:30666746)
• Intracellular calcium current disorder and disease phenotype in OBSCN mutant iPSC-based cardiomyocytes in arrhythmogenic right ventricular cardiomyopathy. (PMID:33042279)
• When is an obscurin variant pathogenic? The impact of Arg4344Gln and Arg4444Trp variants on protein-protein interactions and protein stability. (PMID:33438037)
• Truncating Variants in OBSCN Gene Associated With Disease-Onset and Outcomes of Hypertrophic Cardiomyopathy. (PMID:34601892)
• Giant obscurin regulates migration and metastasis via RhoA-dependent cytoskeletal remodeling in pancreatic cancer. (PMID:34826548)
• Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis. (PMID:34957489)
• Essential role of obscurin kinase-1 in cardiomyocyte coupling via N-cadherin phosphorylation. (PMID:38127465)
• Novel OBSCN variants associated with a risk to exercise-intolerance and rhabdomyolysis. (PMID:38159459)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	obscnb	ENSDARG00000022101
mus_musculus	Obscn	ENSMUSG00000061462
rattus_norvegicus	Obscn	ENSRNOG00000058068
drosophila_melanogaster	bt	FBGN0005666
caenorhabditis_elegans		WBGENE00001000
caenorhabditis_elegans		WBGENE00006759

Paralogs (9): SPEG (ENSG00000072195), MYOT (ENSG00000120729), PALLD (ENSG00000129116), ALPK3 (ENSG00000136383), MYPN (ENSG00000138347), HMCN1 (ENSG00000143341), IGFN1 (ENSG00000163395), CCDC141 (ENSG00000163492), SPEGNB (ENSG00000286095)

Protein

Protein identifiers

Obscurin — Q5VST9 (reviewed: Q5VST9)

Alternative names: Obscurin-RhoGEF, Obscurin-myosin light chain kinase

All UniProt accessions (15): Q5VST9, A0A0A0MRI8, A0A590UJ10, A0A590UJ33, A0A590UJ65, A0A590UJD0, A0A590UJD5, A0A590UJH9, A0A590UJJ2, A0A590UJV7, A0A590UK18, A0A590UKA5, A6NGQ3, H3BPW6, H3BQA7

UniProt curated annotations — full annotation on UniProt →

Function. Structural component of striated muscles which plays a role in myofibrillogenesis. Probably involved in the assembly of myosin into sarcomeric A bands in striated muscle. Has serine/threonine protein kinase activity and phosphorylates N-cadherin CDH2 and sodium/potassium-transporting ATPase subunit ATP1B1. Binds (via the PH domain) strongly to phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2) and phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2), and to a lesser extent to phosphatidylinositol 3-phosphate (PtdIns(3)P), phosphatidylinositol 4-phosphate (PtdIns(4)P), phosphatidylinositol 5-phosphate (PtdIns(5)P) and phosphatidylinositol 3,4,5-trisphosphate (PtdIns(3,4,5)P3).

Subunit / interactions. Interacts (via protein kinase domain 2) with CDH2 and (via protein kinase domain 1) with ATP1B1. Isoform 3 interacts with TTN/titin and calmodulin. Isoform 3 interacts with ANK1 isoform Mu17/ank1.5.

Subcellular location. Cytoplasm. Myofibril. Sarcomere. M line. Z line Cytoplasm. Z line. Cell membrane. Sarcolemma. Nucleus.

Post-translational modifications. Autophosphorylated by protein kinase domains 1 and 2.

Disease relevance. Rhabdomyolysis 1 (RHABDO1) [MIM:620235] An autosomal recessive disorder characterized by severe and recurrent rhabdomyolysis, usually with onset in the teenage years. Some of the episodes may be triggered by exercise or heat; others occur spontaneously. Rhabdomyolysis is the rapid breakdown of damaged or injured skeletal myofibres and may require intensive care management. Muscle breakdown results in release of myofibrillar content into the extracellular space and circulation, resulting in hyperCKemia (hyperCK) and myoglobinuria. RHABDO1 patients may have a history of myalgia and muscle cramps that precede the initial rhabdomyolysis episodes. Disease susceptibility is associated with variants affecting the gene represented in this entry. A chromosomal aberration involving OBSCN has been found in Wilms tumor. Translocation t(1;7)(q42;p15) with PTHB1.

Miscellaneous. Lacks the kinase domain. Initially described as obscurin.

Similarity. Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family.

Isoforms (5)

UniProt ID	Names	Canonical?
Q5VST9-1	1, B, obscurin-MLCK giant kinase	yes
Q5VST9-2	2
Q5VST9-3	3, unc-89-like
Q5VST9-6	5
Q5VST9-7	7

RefSeq proteins (4): NP_001092093, NP_001258152, NP_001373054, NP_443075 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000048	IQ_motif_EF-hand-BS	Binding_site
IPR000219	DH_dom	Domain
IPR000719	Prot_kinase_dom	Domain
IPR001452	SH3_domain	Domain
IPR001849	PH_domain	Domain
IPR003598	Ig_sub2	Domain
IPR003599	Ig_sub	Domain
IPR003961	FN3_dom	Domain
IPR007110	Ig-like_dom	Domain
IPR008266	Tyr_kinase_AS	Active_site
IPR008271	Ser/Thr_kinase_AS	Active_site
IPR011009	Kinase-like_dom_sf	Homologous_superfamily
IPR011993	PH-like_dom_sf	Homologous_superfamily
IPR013098	Ig_I-set	Domain
IPR013106	Ig_V-set	Domain
IPR013783	Ig-like_fold	Homologous_superfamily
IPR017441	Protein_kinase_ATP_BS	Binding_site
IPR035526	Obscurin_SH3	Domain
IPR035899	DBL_dom_sf	Homologous_superfamily
IPR036028	SH3-like_dom_sf	Homologous_superfamily
IPR036116	FN3_sf	Homologous_superfamily
IPR036179	Ig-like_dom_sf	Homologous_superfamily
IPR052385	Obscurin/Obscurin-like_Reg	Family
IPR055251	SOS1_NGEF_PH	Domain

Pfam: PF00041, PF00069, PF00612, PF00621, PF07679, PF22697

Catalyzed reactions (Rhea), 2 shown:

• L-seryl-[protein] + ATP = O-phospho-L-seryl-[protein] + ADP + H(+) (RHEA:17989)
• L-threonyl-[protein] + ATP = O-phospho-L-threonyl-[protein] + ADP + H(+) (RHEA:46608)

UniProt features (453 total): strand 158, domain 65, sequence conflict 60, sequence variant 58, disulfide bond 39, modified residue 14, turn 12, helix 10, splice variant 9, region of interest 9, compositionally biased region 8, binding site 6, mutagenesis site 2, active site 2, chain 1

Structure

Experimental structures (PDB)

25 structures.

PDB	Method	Resolution (Å)
5TZM	X-RAY DIFFRACTION	1.18
4C4K	X-RAY DIFFRACTION	1.95
2YZ8	X-RAY DIFFRACTION	2
4RSV	X-RAY DIFFRACTION	2.41
4UOW	X-RAY DIFFRACTION	3.3
1V1C	SOLUTION NMR
2CR6	SOLUTION NMR
2DKU	SOLUTION NMR
2DM7	SOLUTION NMR
2E7B	SOLUTION NMR
2EDF	SOLUTION NMR
2EDH	SOLUTION NMR
2EDL	SOLUTION NMR
2EDQ	SOLUTION NMR
2EDR	SOLUTION NMR
2EDT	SOLUTION NMR
2EDW	SOLUTION NMR
2ENY	SOLUTION NMR
2EO1	SOLUTION NMR
2GQH	SOLUTION NMR
2MWC	SOLUTION NMR
2N56	SOLUTION NMR
6MG9	SOLUTION NMR
7R67	SOLUTION NMR
7R68	SOLUTION NMR

Predicted structure (AlphaFold)

No AlphaFold model available for Q5VST9 — AlphaFold DB does not currently provide models for proteins above ~3000 aa.

Functional residue map

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

Catalytic / active sites (2): 6587 (proton acceptor); 7791 (proton acceptor)

Ligand- & substrate-binding residues (6): 5975; 5980; 6474–6482; 6497; 7678–7686; 7701

Post-translational modifications (14): 5569, 5571, 5573, 6831, 7244, 395, 2889, 4015, 4750, 4754, 4757, 4788, 4805, 5563

Disulfide bonds (39): 31–82, 259–311, 354–404, 819–870, 912–962, 1004–1054, 1096–1146, 1188–1238, 1280–1330, 1372–1422, 1464–1514, 1556–1606, 1648–1698, 1723–1791, 1830–1880, 2187–2237, 2311–2361, 2490–2540, 2668–2718, 2848–2898 …

Mutagenesis-validated functional residues (2):

Position	Phenotype
5975	reduced binding to phosphatidylinositol 4,5-bisphosphate.
5980	reduced binding to phosphatidylinositol 3,4-bisphosphate.

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-193648	NRAGE signals death through JNK
R-HSA-416482	G alpha (12/13) signalling events
R-HSA-8980692	RHOA GTPase cycle
R-HSA-9013406	RHOQ GTPase cycle

MSigDB gene sets: 226 (showing top): RNGTGGGC_UNKNOWN, MODULE_255, LFA1_Q6, GOBP_STRIATED_MUSCLE_CELL_DIFFERENTIATION, GOBP_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, MODULE_317, REACTOME_NRAGE_SIGNALS_DEATH_THROUGH_JNK, AP4_Q6, TGACCTY_ERR1_Q2, GOBP_SARCOMERE_ORGANIZATION, CAGCTG_AP4_Q5, GOBP_CELLULAR_COMPONENT_ASSEMBLY_INVOLVED_IN_MORPHOGENESIS, GOBP_MUSCLE_STRUCTURE_DEVELOPMENT, TGIF_01, GOBP_ACTOMYOSIN_STRUCTURE_ORGANIZATION

GO Biological Process (6): protein localization to M-band (GO:0036309), sarcomere organization (GO:0045214), regulation of small GTPase mediated signal transduction (GO:0051056), protein phosphorylation (GO:0006468), cell differentiation (GO:0030154), regulation of intracellular signal transduction (GO:1902531)

GO Molecular Function (22): protein serine/threonine kinase activity (GO:0004674), guanyl-nucleotide exchange factor activity (GO:0005085), calmodulin binding (GO:0005516), ATP binding (GO:0005524), phosphatidylinositol-4,5-bisphosphate binding (GO:0005546), phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547), structural constituent of muscle (GO:0008307), phosphatidylinositol-5-phosphate binding (GO:0010314), ankyrin binding (GO:0030506), titin binding (GO:0031432), phosphatidylinositol-3-phosphate binding (GO:0032266), phosphatidylinositol-3,4-bisphosphate binding (GO:0043325), metal ion binding (GO:0046872), phosphatidylinositol-4-phosphate binding (GO:0070273), protein serine kinase activity (GO:0106310), nucleotide binding (GO:0000166), protein kinase activity (GO:0004672), protein binding (GO:0005515), lipid binding (GO:0008289), kinase activity (GO:0016301), transferase activity (GO:0016740), phosphatidylinositol bisphosphate binding (GO:1902936)

GO Cellular Component (10): cytosol (GO:0005829), plasma membrane (GO:0005886), nuclear body (GO:0016604), myofibril (GO:0030016), Z disc (GO:0030018), M band (GO:0031430), sarcolemma (GO:0042383), nucleus (GO:0005634), cytoplasm (GO:0005737), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
RHO GTPase cycle	2
Cell death signalling via NRAGE, NRIF and NADE	1
GPCR downstream signalling	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
phosphatidylinositol phosphate binding	5
cellular anatomical structure	5
anion binding	3
protein kinase activity	2
phosphatidylinositol bisphosphate binding	2
cytoskeletal protein binding	2
binding	2
protein localization to organelle	1
myofibril assembly	1
actomyosin structure organization	1
small GTPase-mediated signal transduction	1
regulation of intracellular signal transduction	1
phosphorylation	1
protein modification process	1
cellular developmental process	1
regulation of signal transduction	1
intracellular signal transduction	1
GTP binding	1
GDP binding	1
GTPase regulator activity	1
protein binding	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
structural molecule activity	1
cation binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
kinase activity	1
phosphotransferase activity, alcohol group as acceptor	1
catalytic activity, acting on a protein	1
transferase activity, transferring phosphorus-containing groups	1
cytoplasm	1
membrane	1
cell periphery	1
nucleoplasm	1
intracellular membraneless organelle	1
contractile muscle fiber	1
I band	1
A band	1
plasma membrane	1

Protein interactions and networks

STRING

1914 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OBSCN	TTN	Q8WZ42	987
OBSCN	ANK1	P16157	970
OBSCN	ANK2	Q01484	944
OBSCN	NEB	P20929	840
OBSCN	TCAP	O15273	821
OBSCN	POU6F2	P78424	772
OBSCN	ANK3	Q12955	747
OBSCN	MUC16	Q8WXI7	735
OBSCN	CAPN3	P20807	685
OBSCN	FHL2	Q14192	667
OBSCN	MYBPC1	Q00872	647
OBSCN	TRIM63	Q969Q1	624
OBSCN	NBR1	Q14596	619
OBSCN	TMOD3	Q9NYL9	597
OBSCN	SYNE1	Q8NF91	591

IntAct

38 interactions, top by confidence:

A	B	Type	Score
TTN	OBSCN	psi-mi:“MI:0915”(physical association)	0.850
TTN	OBSCN	psi-mi:“MI:0407”(direct interaction)	0.850
OBSCN	TTN	psi-mi:“MI:0407”(direct interaction)	0.850
OBSCN	TTN	psi-mi:“MI:0915”(physical association)	0.850
AP2B1	OBSCN	psi-mi:“MI:0407”(direct interaction)	0.440
OBSCN	Dlg4	psi-mi:“MI:0407”(direct interaction)	0.440
OBSCN	H2BC21	psi-mi:“MI:0915”(physical association)	0.400
OBSCN	TCOF1	psi-mi:“MI:0915”(physical association)	0.400
CALM1	OBSCN	psi-mi:“MI:0915”(physical association)	0.400
	OBSCN	psi-mi:“MI:0915”(physical association)	0.370
Ank3	OBSCN	psi-mi:“MI:0915”(physical association)	0.370
Vps28	UMAD1	psi-mi:“MI:0914”(association)	0.350
BTBD8	HSPA8	psi-mi:“MI:0914”(association)	0.350
LCOR		psi-mi:“MI:0914”(association)	0.350
HNRNPD	ARHGAP32	psi-mi:“MI:0914”(association)	0.350
ATXN1		psi-mi:“MI:0914”(association)	0.350
FGFR1	POLRMT	psi-mi:“MI:0914”(association)	0.350
OBSCN	HMGN1	psi-mi:“MI:0914”(association)	0.350
MLKL	IMPDH2	psi-mi:“MI:0914”(association)	0.350
BRSK1	ANKRD28	psi-mi:“MI:0914”(association)	0.350

BioGRID (90): OBSCN (Affinity Capture-RNA), OBSCN (Affinity Capture-RNA), BRCA1 (Two-hybrid), OBSCN (Affinity Capture-MS), OBSCN (Affinity Capture-MS), OBSCN (Affinity Capture-MS), OBSCN (Affinity Capture-MS), OBSCN (Affinity Capture-MS), OBSCN (Affinity Capture-MS), OBSCN (Affinity Capture-MS), OBSCN (Affinity Capture-MS), OBSCN (Affinity Capture-MS), OBSCN (Affinity Capture-MS), OBSCN (Affinity Capture-MS), OBSCN (Affinity Capture-MS)

ESM2 similar proteins: A2AAJ9, A2ABU4, A2RUH7, B4GBH0, D3ZGQ5, O09127, O70468, O75038, O88599, O95382, P16419, P21709, P22455, P22607, P29322, P54760, P54761, P55144, P55146, P56741, P70218, P70402, Q00653, Q06418, Q13203, Q13308, Q13425, Q14896, Q15746, Q290N5, Q32P44, Q4LDD4, Q5FW53, Q5PQM4, Q5VST9, Q5VTT5, Q60750, Q61851, Q68LP1, Q80UW5

Diamond homologs: A0A087WV53, A2AAJ9, A2ASS6, A2RUH7, O75147, O94856, O94898, P05548, P52179, P54296, P97685, Q00872, Q23551, Q52KR2, Q5VST9, Q62234, Q80W87, Q810U3, Q8WX93, Q92626, A0A509AFG4, A0A5K1K8H0, A2ZVI7, A4IFM7, A8C984, A8WXF6, B9FKW9, C0HKC8, C0HKC9, E9PT87, O02827, O43293, O44997, O54784, O62305, O70150, O80673, O88764, O94768, P07313

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
OBSCN	“up-regulates quantity”	ANK2	relocalization
MYOM1	“up-regulates quantity”	OBSCN	relocalization
TTN	“up-regulates quantity”	OBSCN	relocalization

Disease & clinical

Clinical variants and AI predictions

ClinVar

5888 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	32
Likely pathogenic	24
Uncertain significance	3125
Likely benign	2212
Benign	209

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
2045087	NM_001386125.1(OBSCN):c.10977C>G (p.Tyr3659Ter)	Pathogenic
2049259	NM_001386125.1(OBSCN):c.4132C>T (p.Gln1378Ter)	Pathogenic
2056609	NM_001386125.1(OBSCN):c.3727C>T (p.Gln1243Ter)	Pathogenic
2065665	NM_001386125.1(OBSCN):c.4465C>T (p.Arg1489Ter)	Pathogenic
2071269	NM_001386125.1(OBSCN):c.1120del (p.Ala374fs)	Pathogenic
2080916	NM_001386125.1(OBSCN):c.14599_14605del (p.Gln4867fs)	Pathogenic
2081444	NM_001386125.1(OBSCN):c.15203del (p.Ala5068fs)	Pathogenic
2148266	NM_001386125.1(OBSCN):c.21392del (p.Lys7131fs)	Pathogenic
2153371	NM_001386125.1(OBSCN):c.19607C>G (p.Ser6536Ter)	Pathogenic
2155198	NM_001386125.1(OBSCN):c.12943_12944del (p.Arg4315fs)	Pathogenic
2159621	NM_001386125.1(OBSCN):c.15015C>A (p.Tyr5005Ter)	Pathogenic
2159972	NM_001386125.1(OBSCN):c.14731dup (p.Glu4911fs)	Pathogenic
2160257	NM_001386125.1(OBSCN):c.10464del (p.Tyr3489fs)	Pathogenic
2162106	NM_001386125.1(OBSCN):c.18985C>T (p.Arg6329Ter)	Pathogenic
2165285	NM_001386125.1(OBSCN):c.19744dup (p.Glu6582fs)	Pathogenic
2167363	NM_001386125.1(OBSCN):c.12396_12402del (p.Ser4133fs)	Pathogenic
2175942	NM_001386125.1(OBSCN):c.3805C>T (p.Gln1269Ter)	Pathogenic
2184373	NM_001386125.1(OBSCN):c.10616del (p.Gly3539fs)	Pathogenic
2187302	NM_001386125.1(OBSCN):c.4260C>A (p.Tyr1420Ter)	Pathogenic
2193867	NM_001386125.1(OBSCN):c.16732_16738del (p.Lys5578fs)	Pathogenic
2194385	NM_001386125.1(OBSCN):c.17056G>T (p.Glu5686Ter)	Pathogenic
2200745	NM_001386125.1(OBSCN):c.12151_12152del (p.Arg4051fs)	Pathogenic
225034	NM_001386125.1(OBSCN):c.21291-7_21294del	Pathogenic
2442246	NM_001386125.1(OBSCN):c.24822C>A (p.Tyr8274Ter)	Pathogenic
2819527	NM_001386125.1(OBSCN):c.6313del (p.Val2105fs)	Pathogenic
3234537	NM_001386125.1(OBSCN):c.9434_9438del (p.Tyr3145fs)	Pathogenic
3620076	NM_001386125.1(OBSCN):c.9558_9559insT (p.Val3187fs)	Pathogenic
3628988	NM_001386125.1(OBSCN):c.17566dup (p.Met5856fs)	Pathogenic
3772679	NM_001386125.1(OBSCN):c.708del (p.Ala237fs)	Pathogenic
3774599	NM_001386125.1(OBSCN):c.2029C>A (p.Leu677Met)	Pathogenic

SpliceAI

20680 predictions. Top by Δscore:

Variant	Effect	Δscore
1:228211763:CAGGT:C	acceptor_loss	1.0000
1:228211764:AGG:A	acceptor_loss	1.0000
1:228214290:G:GT	donor_gain	1.0000
1:228214884:T:TA	acceptor_gain	1.0000
1:228215094:CCTGG:C	donor_gain	1.0000
1:228215095:CTGG:C	donor_gain	1.0000
1:228215096:TGGGT:T	donor_loss	1.0000
1:228215097:GG:G	donor_gain	1.0000
1:228215098:GG:G	donor_gain	1.0000
1:228215099:G:GA	donor_loss	1.0000
1:228215100:T:G	donor_loss	1.0000
1:228215561:A:AG	acceptor_gain	1.0000
1:228215562:G:GG	acceptor_gain	1.0000
1:228215826:CGGGG:C	donor_loss	1.0000
1:228215827:GGGGT:G	donor_loss	1.0000
1:228215828:GG:G	donor_gain	1.0000
1:228215828:GGGT:G	donor_loss	1.0000
1:228215829:GG:G	donor_gain	1.0000
1:228215830:GT:G	donor_loss	1.0000
1:228215831:TAGGT:T	donor_loss	1.0000
1:228216704:T:A	donor_loss	1.0000
1:228217010:CAGGC:C	acceptor_loss	1.0000
1:228217011:A:AG	acceptor_gain	1.0000
1:228217011:AGG:A	acceptor_loss	1.0000
1:228217012:G:GC	acceptor_loss	1.0000
1:228217012:G:GG	acceptor_gain	1.0000
1:228225479:A:AG	acceptor_gain	1.0000
1:228225479:AAAT:A	acceptor_gain	1.0000
1:228225480:A:G	acceptor_gain	1.0000
1:228243456:CAGGT:C	donor_loss	1.0000

AlphaMissense

57661 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:228211910:T:A	W43R	1.000
1:228211910:T:C	W43R	1.000
1:228212594:T:A	W271R	1.000
1:228212594:T:C	W271R	1.000
1:228212670:T:C	L296P	1.000
1:228211818:T:C	F12S	0.999
1:228211874:T:C	C31R	0.999
1:228211911:G:C	W43S	0.999
1:228211912:G:C	W43C	0.999
1:228211912:G:T	W43C	0.999
1:228211983:T:C	L67P	0.999
1:228212021:T:G	Y80D	0.999
1:228212027:T:C	C82R	0.999
1:228212169:T:C	F129S	0.999
1:228212210:T:A	W143R	0.999
1:228212210:T:C	W143R	0.999
1:228212212:G:C	W143C	0.999
1:228212212:G:T	W143C	0.999
1:228212327:T:G	Y182D	0.999
1:228212553:T:C	L257P	0.999
1:228212595:G:C	W271S	0.999
1:228212596:G:C	W271C	0.999
1:228212596:G:T	W271C	0.999
1:228212708:T:G	Y309D	0.999
1:228212714:T:C	C311R	0.999
1:228213545:T:A	W365R	0.999
1:228213545:T:C	W365R	0.999
1:228275864:T:A	W2020R	0.999
1:228275864:T:C	W2020R	0.999
1:228279282:T:A	W2412R	0.999

dbSNP variants (sampled 300 via entrez): RS1000039092 (1:228263532 C>T), RS1000065029 (1:228251507 C>G,T), RS1000082028 (1:228326828 T>C), RS1000084175 (1:228290362 G>A), RS1000095882 (1:228363113 G>A,C), RS1000119546 (1:228362896 T>A,C), RS1000136154 (1:228290594 A>G), RS1000145456 (1:228356363 CA>C), RS1000175386 (1:228255032 C>A,T), RS1000180160 (1:228375354 G>A), RS1000183877 (1:228305597 G>A), RS1000188949 (1:228311549 C>G), RS1000208720 (1:228238945 C>T), RS1000219193 (1:228278088 C>T), RS1000225504 (1:228291779 C>T)

Disease associations

OMIM: gene MIM:608616 | disease phenotypes: MIM:620235, MIM:620238, MIM:192600, MIM:609040

GenCC curated gene-disease

Disease	Classification	Inheritance
rhabdomyolysis, susceptibility to, 1	Strong	Autosomal recessive
rhabdomyolysis	Strong	Autosomal recessive
hypertrophic cardiomyopathy	Limited	Autosomal dominant

ClinGen Gene-Disease Validity (2)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
hypertrophic cardiomyopathy	Limited	AD
dilated cardiomyopathy	Limited	AD

Mondo (7): rhabdomyolysis, susceptibility to, 1 (MONDO:0859371), hearing loss, autosomal recessive 120 (MONDO:0859374), cardiomyopathy (MONDO:0004994), hypertrophic cardiomyopathy 1 (MONDO:0008647), arrhythmogenic right ventricular dysplasia 9 (MONDO:0012180), hypertrophic cardiomyopathy (MONDO:0005045), (MONDO:0005290)

Orphanet (1): Rare cardiomyopathy (Orphanet:167848)

HPO phenotypes

44 total (30 of 44 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000083	Renal insufficiency
HP:0000467	Neck muscle weakness
HP:0001288	Gait disturbance
HP:0001315	Reduced tendon reflexes
HP:0001324	Muscle weakness
HP:0001919	Acute kidney injury
HP:0001945	Fever
HP:0002153	Hyperkalemia
HP:0002167	Abnormal speech pattern
HP:0002460	Distal muscle weakness
HP:0002901	Hypocalcemia
HP:0002905	Hyperphosphatemia
HP:0002910	Elevated circulating hepatic transaminase concentration
HP:0003201	Rhabdomyolysis
HP:0003236	Elevated circulating creatine kinase concentration
HP:0003326	Myalgia
HP:0003394	Muscle spasm
HP:0003546	Exercise intolerance
HP:0003554	Type 2 muscle fiber atrophy
HP:0003557	Increased variability in muscle fiber diameter
HP:0003558	Viral infection-induced rhabdomyolysis
HP:0003621	Juvenile onset
HP:0003652	Recurrent myoglobinuria
HP:0003687	Centrally nucleated skeletal muscle fibers
HP:0003738	Exercise-induced myalgia
HP:0005216	Impaired mastication
HP:0005521	Disseminated intravascular coagulation
HP:0007340	Lower limb muscle weakness
HP:0008305	Exercise-induced myoglobinuria

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST006276_1	Non-Richardson’s syndrome vs Richardson’s syndrome in progressive supranuclear palsy	2.000000e-09
GCST007045_15	PR interval	7.000000e-10
GCST008058_25	Estimated glomerular filtration rate	6.000000e-09
GCST008059_212	Estimated glomerular filtration rate	3.000000e-08
GCST010321_102	PR interval	3.000000e-10
GCST010796_2229	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-09

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004462	PR interval
EFO:0004327	electrocardiography

MeSH disease descriptors (4)

Descriptor	Name	Tree numbers
D009202	Cardiomyopathies	C14.280.238
D002312	Cardiomyopathy, Hypertrophic	C14.280.238.100; C14.280.484.048.750.070.160
D012206	Rhabdomyolysis	C05.651.807
C563808	Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: enzyme — Trio family

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases methylation, increases expression, affects cotreatment, increases methylation, decreases expression	3
Benzo(a)pyrene	affects methylation, decreases methylation	2
Silicon Dioxide	increases expression, decreases expression, increases methylation	2
Valproic Acid	affects cotreatment, increases expression, increases methylation	2
aristolochic acid I	increases expression	1
GSK-J4	decreases expression	1
sotorasib	affects cotreatment, decreases expression	1
2,4,6-tribromophenol	decreases expression	1
triphenyl phosphate	affects expression	1
titanium dioxide	decreases expression	1
decabromobiphenyl ether	decreases expression	1
arsenite	affects binding, decreases reaction	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	increases expression	1
tetrabromobisphenol A	increases expression	1
benzo(e)pyrene	affects methylation, increases methylation	1
aflatoxin B2	increases methylation	1
tebuconazole	decreases expression	1
abrine	decreases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
pentabrominated diphenyl ether 100	decreases expression	1
hexabrominated diphenyl ether 153	decreases expression	1
trametinib	affects cotreatment, decreases expression	1
NVP-BKM120	affects cotreatment, decreases expression	1
Bortezomib	decreases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Arsenic	affects methylation	1
Calcitriol	increases expression	1
Diethylhexyl Phthalate	decreases expression	1
Doxorubicin	decreases expression	1

Cellosaurus cell lines

4 cell lines: 4 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B1ZG	Abcam HeLa OBSCN KO	Cancer cell line	Female
CVCL_TB54	HAP1 OBSCN (-) 1	Cancer cell line	Male
CVCL_TB55	HAP1 OBSCN (-) 2	Cancer cell line	Male
CVCL_TB56	HAP1 OBSCN (-) 3	Cancer cell line	Male

Clinical trials (associated diseases)

520 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
NCT00348530	PHASE4	UNKNOWN	Carvedilol Versus Verapamil in Chronic Heart Failure Secondary to Non-Ischemic Cardiomyopathy
NCT00371891	PHASE4	COMPLETED	Ontario Multidetector Computed Tomographic (MDCT) Coronary Angiography Study (OMCAS)
NCT00401856	PHASE4	COMPLETED	CMR to Assess Fibrosis in Cardiomyopathy Using Eplerenone
NCT00559338	PHASE4	COMPLETED	Impact of Nesiritide Infusion for Decompensated Heart Failure in the Emergency Department
NCT00606775	PHASE4	UNKNOWN	The Preventive Efficacy of Carvedilol on Cardiac Dysfunction in Duchenne Muscular Dystrophy
NCT00658203	PHASE4	COMPLETED	Clinical Evaluation on Advanced Resynchronization
NCT00701220	PHASE4	COMPLETED	Statin Therapy for Ischemic and Nonischemic Cardiomyopathy
NCT00800761	PHASE4	COMPLETED	Intensive Combined Chelation Therapy for Iron-Induced Cardiac Disease in Patients With Thalassemia Major
NCT00806390	PHASE4	TERMINATED	Prevention of Anthracycline or Trastuzumab Induced Cardiomyopathy by Metoprolol
NCT01006473	PHASE4	COMPLETED	Exercise Training in Chagas Cardiomyopathy
NCT01261065	PHASE4	COMPLETED	Mechanisms of Improvement With Beta-Blocker Treatment in Heart Failure
NCT01345188	PHASE4	COMPLETED	Ranolazine in Ischemic Cardiomyopathy
NCT01868841	PHASE4	COMPLETED	123-I mIBG (AdreView) Heart-to-Mediastinal (H/M) Ratio and SPECT Imaging on a Small Field of View-High Efficiency Cardiac SPECT System
NCT02640846	PHASE4	UNKNOWN	Effects of Levosimendan, Milrinone and Norepinephrine on Left and Right Ventricular Function in Septic Shock
NCT03228823	PHASE4	UNKNOWN	Prospective Assessment of Premature Ventricular Contractions Suppression in Cardiomyopathy(PAPS)
NCT04323852	PHASE4	COMPLETED	Can Vitamin D Reduce Heart Muscle Damage After Bypass Surgery?
NCT05034432	PHASE4	RECRUITING	The PIVATAL Study -Study of Ventricular Arrhythmia (VTA) Ablation in Left Ventricular Assist Device (LVAD) Patients
NCT05718128	PHASE4	RECRUITING	Clinical Study of Endocardial Myocardial Biopsy
NCT06964464	PHASE4	RECRUITING	Comparative Effectiveness of Carvedilol Versus Metoprolol Succinate in Heart Failure Patients With an Implantable Cardioverter Defibrillator
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
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