COL6A3

Summary

COL6A3 (collagen type VI alpha 3 chain, HGNC:2213) is a protein-coding gene on chromosome 2q37.3, encoding Collagen alpha-3(VI) chain (P12111). Collagen VI acts as a cell-binding protein.

This gene encodes the alpha-3 chain, one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The alpha-3 chain of type VI collagen is much larger than the alpha-1 and -2 chains. This difference in size is largely due to an increase in the number of subdomains, similar to von Willebrand Factor type A domains, that are found in the amino terminal globular domain of all the alpha chains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in the type VI collagen genes are associated with Bethlem myopathy, a rare autosomal dominant proximal myopathy with early childhood onset. Mutations in this gene are also a cause of Ullrich congenital muscular dystrophy, also referred to as Ullrich scleroatonic muscular dystrophy, an autosomal recessive congenital myopathy that is more severe than Bethlem myopathy. Multiple transcript variants have been identified, but the full-length nature of only some of these variants has been described.

Source: NCBI Gene 1293 — RefSeq curated summary.

At a glance

• Gene–disease (curated): collagen 6-related myopathy (Definitive, ClinGen) — +6 more curated relationships
• GWAS associations: 19
• Clinical variants (ClinVar): 3,982 total — 113 pathogenic, 71 likely-pathogenic
• Phenotypes (HPO): 91
• Druggable target: yes
• Cancer driver (intOGen): loss-of-function (tumor-suppressor-like) across 1 cancer types
• MANE Select transcript: NM_004369

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2213
Approved symbol	COL6A3
Name	collagen type VI alpha 3 chain
Location	2q37.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000163359
Ensembl biotype	protein_coding
OMIM	120250
Entrez	1293

Gene structure

Transcript identifiers

Ensembl transcripts: 25 — 13 protein_coding, 7 retained_intron, 3 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay

ENST00000295550, ENST00000347401, ENST00000353578, ENST00000392003, ENST00000392004, ENST00000433762, ENST00000468792, ENST00000472056, ENST00000473258, ENST00000491233, ENST00000491769, ENST00000493475, ENST00000493608, ENST00000682405, ENST00000682957, ENST00000683145, ENST00000683155, ENST00000683348, ENST00000684508, ENST00000684597, ENST00000888366, ENST00000952249, ENST00000952250, ENST00000952251, ENST00000952252

RefSeq mRNA: 5 — MANE Select: NM_004369 NM_004369, NM_057164, NM_057165, NM_057166, NM_057167

CCDS: CCDS33409, CCDS33410, CCDS33411, CCDS33412, CCDS54439

Canonical transcript exons

ENST00000295550 — 44 exons

Exon	Start	End
ENSE00001073728	237344350	237344843
ENSE00001073741	237374412	237375020
ENSE00001073761	237378636	237379235
ENSE00001073762	237380915	237381499
ENSE00001073778	237387582	237388184
ENSE00001073779	237376772	237377344
ENSE00001073780	237371732	237372337
ENSE00001073784	237394587	237395204
ENSE00001266203	237368563	237369177
ENSE00001339012	237396727	237396847
ENSE00001910299	237413953	237414164
ENSE00002207593	237359206	237359250
ENSE00002210119	237357817	237357882
ENSE00002220388	237366687	237367286
ENSE00002222359	237363253	237363398
ENSE00002239746	237342065	237342161
ENSE00002247525	237361121	237361174
ENSE00002249647	237354899	237354934
ENSE00002276843	237361739	237361831
ENSE00002287340	237357338	237357391
ENSE00002295088	237359035	237359088
ENSE00002298215	237364350	237364428
ENSE00002303895	237365698	237366035
ENSE00002306233	237360088	237360159
ENSE00002315355	237358521	237358583
ENSE00002317428	237359362	237359388
ENSE00003462216	237325560	237325724
ENSE00003462722	237353341	237353403
ENSE00003464764	237340452	237341150
ENSE00003467345	237347807	237347869
ENSE00003468852	237345058	237345094
ENSE00003530002	237352522	237352584
ENSE00003530842	237333450	237333548
ENSE00003543544	237346503	237346565
ENSE00003553577	237348349	237348384
ENSE00003568486	237350147	237350209
ENSE00003578545	237351130	237351192
ENSE00003579665	237336135	237336532
ENSE00003585821	237345181	237345213
ENSE00003589018	237348613	237348663
ENSE00003638362	237339015	237339117
ENSE00003680788	237344941	237344952
ENSE00003681061	237334626	237334889
ENSE00003897550	237324018	237324814

Expression profiles

Bgee: expression breadth ubiquitous, 264 present calls, max score 99.82.

FANTOM5 (CAGE): breadth broad, TPM avg 197.5488 / max 5141.0033, expressed in 885 samples.

FANTOM5 promoters (12 alternative TSS)

Promoter ID	TPM avg	Samples expressed
34711	119.8235	866
34710	70.1314	780
34715	3.2811	573
34714	1.4103	502
34688	1.0418	409
34698	0.5130	260
34713	0.4079	267
34709	0.3836	215
34712	0.2098	109
34716	0.1488	75

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
stromal cell of endometrium	CL:0002255	99.82	gold quality
visceral pleura	UBERON:0002401	99.69	gold quality
skin of hip	UBERON:0001554	99.65	gold quality
periodontal ligament	UBERON:0008266	99.65	gold quality
layer of synovial tissue	UBERON:0007616	99.62	gold quality
decidua	UBERON:0002450	99.58	gold quality
synovial joint	UBERON:0002217	99.57	gold quality
pleura	UBERON:0000977	99.54	gold quality
parietal pleura	UBERON:0002400	99.54	gold quality
pericardium	UBERON:0002407	99.52	gold quality
saphenous vein	UBERON:0007318	99.52	gold quality
urethra	UBERON:0000057	99.50	gold quality
tibia	UBERON:0000979	99.47	gold quality
cartilage tissue	UBERON:0002418	99.40	gold quality
smooth muscle tissue	UBERON:0001135	99.33	gold quality
mammary duct	UBERON:0001765	99.33	gold quality
mammalian vulva	UBERON:0000997	99.19	gold quality
cauda epididymis	UBERON:0004360	99.17	gold quality
nipple	UBERON:0002030	99.15	gold quality
endocervix	UBERON:0000458	99.14	gold quality
myometrium	UBERON:0001296	99.14	gold quality
gall bladder	UBERON:0002110	99.12	gold quality
vena cava	UBERON:0004087	99.04	gold quality
tendon of biceps brachii	UBERON:0008188	98.92	gold quality
seminal vesicle	UBERON:0000998	98.90	gold quality
mucosa of urinary bladder	UBERON:0001259	98.89	gold quality
superficial temporal artery	UBERON:0001614	98.86	gold quality
right ovary	UBERON:0002118	98.81	gold quality
urinary bladder	UBERON:0001255	98.80	gold quality
upper arm skin	UBERON:0004263	98.80	gold quality

Single-cell (SCXA)

Detected in 28 experiment(s), a significant marker in 27.

Experiment	Marker?	Max mean expression
E-MTAB-10662	yes	3212.04
E-ENAD-27	yes	3178.06
E-GEOD-75688	yes	2343.47
E-MTAB-8322	yes	1699.64
E-HCAD-24	yes	1603.58
E-GEOD-130473	yes	1365.24
E-CURD-126	yes	1314.52
E-MTAB-6701	yes	1283.99
E-HCAD-56	yes	946.30
E-MTAB-10287	yes	110.06
E-HCAD-30	yes	99.59
E-HCAD-1	yes	90.85
E-MTAB-8142	yes	89.04
E-HCAD-10	yes	70.80
E-MTAB-8410	yes	65.41

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): SMAD3, SMAD7

miRNA regulators (miRDB)

80 targeting COL6A3, 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-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-767-5P	99.95	70.85	993
HSA-MIR-4778-3P	99.93	70.40	1818
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-5682	99.89	72.56	1005
HSA-MIR-579-3P	99.86	71.66	3628
HSA-MIR-202-3P	99.84	71.41	1290
HSA-MIR-664B-3P	99.84	71.65	3590
HSA-MIR-6844	99.82	70.69	2423
HSA-MIR-4668-5P	99.79	70.58	3782
HSA-MIR-148A-3P	99.74	73.77	1700
HSA-MIR-148B-3P	99.74	73.75	1700
HSA-MIR-152-3P	99.74	73.75	1703
HSA-MIR-4422	99.72	72.07	2908
HSA-MIR-4530	99.69	66.47	1509
HSA-MIR-4804-3P	99.65	67.78	866
HSA-MIR-5003-5P	99.61	69.13	1624
HSA-MIR-6716-5P	99.56	68.62	1244

Literature-anchored findings (GeneRIF, showing 40)

• Postranslational processing of type VI collagen in articular cartilage was investigated: alpha3(VI) collagen C5 domain is initially incorporated into the newly formed type VI fibrils, but after secretion is cut and not in the mature pericellular matrix (PMID:11785962)
• Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy. (PMID:11992252)
• Haplotype analysis clearly suggested linkage of Ullrich muscular dystrophy to the COL6A1/2 locus in two cases and to the COL6A3 loci in the third case. In the remaining nine patients, primary collagen VI involvement was excluded (PMID:12011280)
• The C-terminal Kunitz-type domain from the alpha3 chain of human type VI collagen (C5), a single amino-acid residue chain with three disulfide bridges, was refined at 0.9 A resolution in a monoclinic form (PMID:12077460)
• dominant mutations are common in Ullrich congenital muscular dystrophy (UCMD). (PMID:15563506)
• These results suggest that different alpha3(VI) chain isoforms, containing also domains of the N10-N7 region, are required for assembling a proper collagen VI network in the extracellular matrix. (PMID:15965965)
• the alpha3(VI) C5 domain is present in the extracellular matrix of SaOS-2 N6-C5 expressing cells and fibroblasts, which demonstrates that processing of the C-terminal region of the alpha3(VI) chain is not essential for microfibril formation (PMID:16613849)
• Col6A3 fusion with colony-stimulating factor-1 gene is associated with tenosynovial giant cell tumors. (PMID:17918257)
• Study reports 10 unrelated patients with a Ullrich congenital muscular dystrophy clinical phenotype and de novo dominant negative heterozygous splice mutations in COL6A1, COL6A2 and COL6A3. (PMID:18366090)
• in humans increased COL6A3 mRNA is associated with adipose tissue macrophage chemotaxis and inflammation and that weight gain (PMID:19837927)
• Data indicate that the aberrantly methylated and expressed genes in cancer process including IRS1 and collagen-related genes COL4A1, COL4A2 and COL6A3. (PMID:23818951)
• Mutations in each of the three collagen VI genes, COL6A1, COL6A2 and COL6A3, cause four types of muscle disorders: Ullrich congenital muscular dystrophy, Bethlem myopathy, limb-girdle muscular dystrophy, and autosomal recessive myosclerosis. (Review) (PMID:24443028)
• Data indicate that endotrophin (COL6alpha3) levels are higher in diabetic patients. (PMID:24647224)
• Increased adipocyte COL6A3 expression associates with insulin resistance; COL6A3 mRNA associates with small adipocyte size (PMID:24719315)
• In UCMD, 1 mutation was indentified in Chinese patients. (PMID:24801232)
• Parental mosaicism was confirmed in the four families through quantitative analysis of the ratio of mutant versus wild-type allele (COL6A1, COL6A2, and COL6A3) in genomic DNA from various tissues; consistent with somatic mosaicism, parental samples had lower ratios of mutant versus wild-type allele compared with the fully heterozygote offspring. (PMID:25204870)
• This study showed that COL6A3 expression appeared to be lowered in obesity, whereas diet- and surgery-induced weight loss increased COL6A3 expression. (PMID:25337653)
• The heterozygous c.3353A>C mutation in exon 8 of the COL6A3 gene is associated with the Bethlem myopathy with autosomal dominant inheritance. (PMID:25449070)
• COL6A mutations were identified in eight cases having clinical phenotypes of Ullrich congenital muscular dystrophy (UCMD) or Bethlem myopathy (BM). (PMID:25635128)
• Recessive mutations in the alpha3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia. (PMID:26004199)
• Data indicate that circulating plasma COL6A3 in colorectal cancer (CRC) patients was upregulated significantly comparing with healthy peoples. (PMID:26338966)
• COL6A3-associated dystonia represents a newly identified autosomal-recessive entity characterized clinically by an early symptom onset with variable distribution. (PMID:26687111)
• In conjunction with the relatively high frequency of homozygous carriers of reported mutations in publically available databases, our data call a causal role for variants in COL6A3 in isolated dystonia into question. (PMID:26872670)
• Overexpression of endotrophin led to a fibrotic program in white adipose tissue (WAT) adipocytes, a proinflammatory program in (WAT) macrophages, and upregulation of both profibrotic and proinflammatory genes in the stromal vascular fraction isolated from WAT. (PMID:27729337)
• Patients with chronic kidney disease (CKD) are at increased risk of end-stage renal disease (ESRD) and early mortality. Serum endotrophin, a COL6A3 cleavage product was significantly associated with progression to ESRD. (PMID:28403201)
• Altered white matter structure especially in various parts of the cerebello-thalamo-cortical network in dystonia patients with COL6A3 mutations. (PMID:29066004)
• COL6A mutation Congenital Muscular Dystrophy showed the muscle weakness and poor respiratory function. (PMID:29465610)
• Study found COL6A3 expression to be downregulated and associated with poor prognosis in human colorectal cancer (CRC). In silico analysis of cell typespecific gene expression and COL6A3 knockout experiments indicated the clinical relevance of COL6A3 in the development of CRC. (PMID:29620224)
• two compound heterozygous mutations in COL6A3 gene lead to myopathy from Ullrich congenital muscular dystrophy and Bethlem myopathy spectrum. (PMID:29894794)
• The morphology and immunophenotype of all 6 cases was analogous to those with the canonical COL1A1-PDGFB fusion; none of the cases showed fibrosarcomatous transformation. This study illustrates that the COL6A3-PDGFD fusion product is rare in dermatofibrosarcoma protuberans, and associated with an apparent predilection for breast (PMID:30014607)
• COL6A3 could influence the viability and angiogenesis of bladder cancer cells. COL6A3 may have a certain relationship with the TGF-beta/Smad-induced EMT process. (PMID:30066698)
• two patients were diagnosed as spontaneous collagen type -related myopathy and carried different variants of COL6A3 gene (PMID:30695889)
• The most frequent mutation in a series of 16 Bethlem myopathy patients was the COL6A3 variant c.7447A>G, p.Lys2486Glu, with either an homozygous or compound heterozygous presentation. Five new mutations were found in COL6A1 gene and other two in COL6A3 gene, all of them with a dominant heritability pattern. (PMID:30706156)
• Human endotrophin as a driver of malignant tumor growth. (PMID:30896449)
• overexpressed circCOL6A3 promoted cell proliferation, migration and apoptosis of gastric cancer through rescission of miR-3064-5p-induced inhibitory effect on COL6A3; study will furnish theoretical grounds for future clinical diagnosis and treatment of GC patients (PMID:31122696)
• An association was determined between COL6A3 polymorphisms and lung cancer risk in a Chinese population. (PMID:31286980)
• study found that COL6A3 variants were associated with risk of esophageal cancer in the Chinese population (PMID:31425922)
• COL6A3 mutation associated early-onset isolated dystonia (DYT)-27: Report of a new case and review of published literature. (PMID:32037012)
• A Fragment of Collagen Type VI alpha-3 chain is Elevated in Serum from Patients with Gastrointestinal Disorders. (PMID:32245981)
• Coexistence of digenic mutations in the collagen VI genes (COL6A1 and COL6A3) leads to Bethlem myopathy. (PMID:32389683)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio		ENSDARG00000095915
mus_musculus	Col6a3	ENSMUSG00000048126
rattus_norvegicus	Col6a3	ENSRNOG00000019648

Paralogs (12): COCH (ENSG00000100473), COL12A1 (ENSG00000111799), MATN4 (ENSG00000124159), MATN3 (ENSG00000132031), MATN2 (ENSG00000132561), MATN1 (ENSG00000162510), VWA2 (ENSG00000165816), COL6A5 (ENSG00000172752), VWA1 (ENSG00000179403), COL14A1 (ENSG00000187955), VIT (ENSG00000205221), COL6A6 (ENSG00000206384)

Protein

Protein identifiers

Collagen alpha-3(VI) chain — P12111 (reviewed: P12111)

All UniProt accessions (7): A0A804HKC7, A0A804HKQ0, A0A804HKS9, C9JNG9, D9ZGF2, E7ENL6, P12111

UniProt curated annotations — full annotation on UniProt →

Function. Collagen VI acts as a cell-binding protein.

Subunit / interactions. Trimers composed of three different chains: alpha-1(VI), alpha-2(VI), and alpha-3(VI) or alpha-5(VI) or alpha-6(VI).

Subcellular location. Secreted. Extracellular space. Extracellular matrix.

Post-translational modifications. Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains. The N-terminus is blocked.

Disease relevance. Bethlem myopathy 1C (BTHLM1C) [MIM:620726] A form of Bethlem myopathy, a slowly progressive muscular dystrophy characterized by joint contractures, most frequently affecting the elbows and ankles, and muscle weakness and wasting involving the proximal and extensor muscles more than the distal and flexor ones. The clinical onset more often occurs in childhood or adulthood, but it can be prenatal with decreased fetal movements or neonatal with hypotonia. The hallmark of Bethlem myopathy is long finger flexion contractures. BTHLM1C inheritance is autosomal dominant. The disease is caused by variants affecting the gene represented in this entry. Ullrich congenital muscular dystrophy 1C (UCMD1C) [MIM:620728] A form of Ullrich congenital muscular dystrophy, a disease characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence. Additional findings may include kyphoscoliosis, protruded calcanei, and follicular hyperkeratosis (rough skin). More severely affected patients manifest at birth and never achieve independent ambulation, while patients with milder phenotypes might maintain ambulation into adulthood. Inheritance can be autosomal dominant or autosomal recessive. The disease is caused by variants affecting the gene represented in this entry. Dystonia 27 (DYT27) [MIM:616411] A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT27 is an autosomal recessive form characterized by segmental isolated dystonia involving the face, neck, bulbar muscles, and upper limbs. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the type VI collagen family.

Isoforms (5)

UniProt ID	Names	Canonical?
P12111-1	1	yes
P12111-2	2
P12111-3	3
P12111-4	4
P12111-5	5

RefSeq proteins (5): NP_004360, NP_476505, NP_476506, NP_476507, NP_476508 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002035	VWF_A	Domain
IPR002223	Kunitz_BPTI	Domain
IPR003961	FN3_dom	Domain
IPR008160	Collagen	Repeat
IPR013783	Ig-like_fold	Homologous_superfamily
IPR020901	Prtase_inh_Kunz-CS	Conserved_site
IPR036116	FN3_sf	Homologous_superfamily
IPR036465	vWFA_dom_sf	Homologous_superfamily
IPR036880	Kunitz_BPTI_sf	Homologous_superfamily
IPR041900	vWA_collagen_alpha3-VI-like	Domain
IPR050525	ECM_Assembly_Org	Family

Pfam: PF00014, PF00092, PF01391

UniProt features (164 total): sequence variant 39, domain 19, sequence conflict 15, glycosylation site 15, compositionally biased region 13, helix 12, modified residue 12, strand 11, region of interest 8, splice variant 6, short sequence motif 5, disulfide bond 4, turn 2, signal peptide 1, chain 1, site 1

Structure

Experimental structures (PDB)

6 structures.

PDB	Method	Resolution (Å)
1KTH	X-RAY DIFFRACTION	0.95
2KNT	X-RAY DIFFRACTION	1.2
1KNT	X-RAY DIFFRACTION	1.6
6SNK	X-RAY DIFFRACTION	2.2
9GTU	ELECTRON MICROSCOPY	3.14
1KUN	SOLUTION NMR

Predicted structure (AlphaFold)

No AlphaFold model available for P12111 — 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 (1): 3122–3123 (reactive bond)

Post-translational modifications (12): 433, 1225, 2100, 2103, 2206, 2209, 2212, 2239, 2316, 2319, 2322, 2337

Disulfide bonds (4): 2087, 3112–3162, 3121–3145, 3137–3158

Glycosylation sites (15): 108, 116, 202, 251, 2079, 2103, 2209, 2212, 2322, 2331, 2337, 2558, 2677, 2861, 3037

Function

Pathways and Gene Ontology

Reactome pathways

8 pathways

ID	Pathway
R-HSA-1442490	Collagen degradation
R-HSA-1650814	Collagen biosynthesis and modifying enzymes
R-HSA-186797	Signaling by PDGF
R-HSA-2022090	Assembly of collagen fibrils and other multimeric structures
R-HSA-216083	Integrin cell surface interactions
R-HSA-3000178	ECM proteoglycans
R-HSA-419037	NCAM1 interactions
R-HSA-8948216	Collagen chain trimerization

MSigDB gene sets: 492 (showing top): TGGTGCT_MIR29A_MIR29B_MIR29C, TURASHVILI_BREAST_LOBULAR_CARCINOMA_VS_DUCTAL_NORMAL_UP, MODULE_255, GOCC_COLLAGEN_TRIMER, MODULE_317, REACTOME_NCAM_SIGNALING_FOR_NEURITE_OUT_GROWTH, MODULE_329, GGGTGGRR_PAX4_03, HUMMERICH_SKIN_CANCER_PROGRESSION_UP, CLASPER_LYMPHATIC_VESSELS_DURING_METASTASIS_DN, GOBP_MUSCLE_STRUCTURE_DEVELOPMENT, WOO_LIVER_CANCER_RECURRENCE_UP, BLALOCK_ALZHEIMERS_DISEASE_UP, GOMF_EXTRACELLULAR_MATRIX_STRUCTURAL_CONSTITUENT, LANDIS_ERBB2_BREAST_PRENEOPLASTIC_DN

GO Biological Process (6): cell adhesion (GO:0007155), muscle organ development (GO:0007517), response to UV (GO:0009411), response to glucose (GO:0009749), phosphatidylinositol 3-kinase/protein kinase B signal transduction (GO:0043491), neuron apoptotic process (GO:0051402)

GO Molecular Function (4): serine-type endopeptidase inhibitor activity (GO:0004867), extracellular matrix structural constituent conferring tensile strength (GO:0030020), protein binding (GO:0005515), peptidase inhibitor activity (GO:0030414)

GO Cellular Component (9): extracellular region (GO:0005576), collagen type VI trimer (GO:0005589), obsolete extracellular space (GO:0005615), endoplasmic reticulum lumen (GO:0005788), extracellular matrix (GO:0031012), sarcolemma (GO:0042383), extracellular exosome (GO:0070062), extracellular vesicle (GO:1903561), collagen trimer (GO:0005581)

Reactome top-level categories

Rollup of top-6 pathways:

Category	Pathways
Collagen formation	2
Extracellular matrix organization	2
Degradation of the extracellular matrix	1
Signaling by Receptor Tyrosine Kinases	1
NCAM signaling for neurite out-growth	1
Collagen biosynthesis and modifying enzymes	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular process	1
animal organ development	1
muscle structure development	1
response to light stimulus	1
response to hexose	1
intracellular signaling cassette	1
apoptotic process	1
serine-type endopeptidase activity	1
endopeptidase inhibitor activity	1
extracellular matrix structural constituent	1
binding	1
enzyme inhibitor activity	1
peptidase activity	1
peptidase regulator activity	1
cellular anatomical structure	1
collagen beaded filament	1
von-Willerbrand-factor-A-domain-rich collagen trimer	1
extracellular protein-containing complex	1
endoplasmic reticulum	1
intracellular organelle lumen	1
external encapsulating structure	1
plasma membrane	1
extracellular vesicle	1
extracellular region	1
vesicle	1
extracellular membrane-bounded organelle	1
protein-containing complex	1

Protein interactions and networks

STRING

2220 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
COL6A3	COL6A2	P12110	978
COL6A3	COL6A1	P12109	963
COL6A3	COL1A1	P02452	875
COL6A3	COL3A1	P02461	812
COL6A3	COL5A2	P05997	792
COL6A3	COL1A2	P02464	772
COL6A3	LUM	P51884	719
COL6A3	BGN	P13247	705
COL6A3	LAMB1	P07942	695
COL6A3	FN1	P02751	687
COL6A3	COL11A1	P12107	675
COL6A3	FBN1	P35555	653
COL6A3	POSTN	Q15063	653
COL6A3	HDLBP	Q00341	649
COL6A3	PFKL	P17858	640

IntAct

28 interactions, top by confidence:

A	B	Type	Score
FBXO2	TMEM131L	psi-mi:“MI:0914”(association)	0.530
LAIR2	LAMA5	psi-mi:“MI:0914”(association)	0.530
LGALS1	PODXL	psi-mi:“MI:0914”(association)	0.530
PDIA3	COL6A3	psi-mi:“MI:0408”(disulfide bond)	0.440
	TK2	psi-mi:“MI:0915”(physical association)	0.400
COL6A3	COL5A1	psi-mi:“MI:0915”(physical association)	0.370
	VWA8	psi-mi:“MI:0914”(association)	0.350
	PGRMC1	psi-mi:“MI:0914”(association)	0.350
NEK4	E2F8	psi-mi:“MI:0914”(association)	0.350
APBB1	SSPOP	psi-mi:“MI:0914”(association)	0.350
GRN	OPA1	psi-mi:“MI:0914”(association)	0.350
Creld2	P4HB	psi-mi:“MI:0914”(association)	0.350
BMI1	HMGB1P1	psi-mi:“MI:0914”(association)	0.350
LAIR2	AGRN	psi-mi:“MI:0914”(association)	0.350
C1QTNF1	CALU	psi-mi:“MI:0914”(association)	0.350
MRPS23	MYH7B	psi-mi:“MI:0914”(association)	0.350
ATF3	ILVBL	psi-mi:“MI:0914”(association)	0.350
GATA2	ILVBL	psi-mi:“MI:0914”(association)	0.350
ATF2	ABLIM1	psi-mi:“MI:0914”(association)	0.350
ATF3	TMEM223	psi-mi:“MI:0914”(association)	0.350
CTNNA1	MYO1G	psi-mi:“MI:0914”(association)	0.350
STAT3	IGF2BP3	psi-mi:“MI:0914”(association)	0.350
alsD	COL6A3	psi-mi:“MI:0915”(physical association)	0.000
lsrA	COL6A3	psi-mi:“MI:0915”(physical association)	0.000
COL6A3	DYSF	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (19): COL6A3 (Affinity Capture-MS), COL6A3 (Affinity Capture-MS), COL6A3 (Affinity Capture-MS), COL6A3 (Two-hybrid), COL6A3 (Affinity Capture-MS), COL6A3 (Affinity Capture-MS), COL6A3 (Affinity Capture-MS), COL6A3 (Affinity Capture-MS), LDHB (Cross-Linking-MS (XL-MS)), RPS20 (Cross-Linking-MS (XL-MS)), COL6A3 (Affinity Capture-MS), COL6A3 (Cross-Linking-MS (XL-MS)), COL6A3 (Cross-Linking-MS (XL-MS)), COL6A3 (Affinity Capture-MS), COL6A3 (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A2AX52, A6H584, A6NMZ7, A6X935, A8TX70, E1BMV3, E7FF10, O00339, O02668, O08746, O55123, O89029, P05099, P06681, P12111, P15989, P19823, P19827, P21180, P21941, P51942, P79263, P97278, P97279, Q0IIH7, Q0V8T0, Q0V8T5, Q0V8T6, Q0V8T7, Q0VCM5, Q14624, Q21540, Q29052, Q3SYW2, Q3T052, Q5GFL6, Q61702, Q61703, Q6DCQ6, Q70UZ7

Diamond homologs: A0A131MBU3, P12111, A2AX52, A6H584, A6NMZ7, A6QLN9, A8TX70, E7FF10, O00339, O08746, O42401, O75578, O89029, P05099, P05555, P11215, P15989, P20701, P20702, P34576, P51942, P61625, Q02388, Q13349, Q21281, Q21540, Q28902, Q3V0T4, Q63870, Q642A6, Q6PCB0, Q6UXI7, Q8C6K9, Q8NFW1, Q8R2Z5, Q90615, Q91145, Q923P0, Q95LI2, Q96P44

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
COL6A3	up-regulates	ECM_synthesis

Disease & clinical

Cancer significance

From intOGen — cancer-driver classification: loss-of-function (tumor-suppressor-like) across 1 cancer types — MEL.

Clinical variants and AI predictions

ClinVar

3982 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	113
Likely pathogenic	71
Uncertain significance	1727
Likely benign	1071
Benign	186

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1012690	NM_004369.4(COL6A3):c.6115C>T (p.Gln2039Ter)	Pathogenic
1027374	NM_004369.4(COL6A3):c.6210+5G>A	Pathogenic
1069649	NM_004369.4(COL6A3):c.6114dup (p.Gln2039fs)	Pathogenic
1071178	NC_000002.11:g.(?237481970)(238305470_?)del	Pathogenic
1072049	NM_004369.4(COL6A3):c.7112del (p.Gly2371fs)	Pathogenic
1075768	NM_004369.4(COL6A3):c.6283-1G>A	Pathogenic
1076925	NM_004369.4(COL6A3):c.2362C>T (p.Gln788Ter)	Pathogenic
1298861	NM_004369.4(COL6A3):c.5174A>C (p.His1725Pro)	Pathogenic
1328286	NM_004369.4(COL6A3):c.6210+1G>T	Pathogenic
1332842	NM_004369.4(COL6A3):c.7382del (p.Ala2461fs)	Pathogenic
1366422	NM_004369.4(COL6A3):c.7648C>T (p.Gln2550Ter)	Pathogenic
1389288	NM_004369.4(COL6A3):c.183del (p.Leu62fs)	Pathogenic
1397705	NM_004369.4(COL6A3):c.9160_9163dup (p.His3055fs)	Pathogenic
1428861	NM_004369.4(COL6A3):c.7174+1del	Pathogenic
1435141	NM_004369.4(COL6A3):c.865G>T (p.Glu289Ter)	Pathogenic
1451383	NM_004369.4(COL6A3):c.1940C>A (p.Ser647Ter)	Pathogenic
1452162	NM_004369.4(COL6A3):c.9384G>A (p.Trp3128Ter)	Pathogenic
1452977	NM_004369.4(COL6A3):c.2367del (p.Ile789fs)	Pathogenic
1456368	NM_004369.4(COL6A3):c.399del (p.Ala134fs)	Pathogenic
1459939	NM_004369.4(COL6A3):c.3400C>T (p.Gln1134Ter)	Pathogenic
1510897	NM_004369.4(COL6A3):c.6188A>G (p.Tyr2063Cys)	Pathogenic
1679308	NM_004369.4(COL6A3):c.8481del (p.Leu2828fs)	Pathogenic
1691283	NM_004369.4(COL6A3):c.6283-2A>G	Pathogenic
17150	NM_004369.4(COL6A3):c.6930+5G>A	Pathogenic
17151	NM_004369.4(COL6A3):c.1393C>T (p.Arg465Ter)	Pathogenic
17153	NM_004369.4(COL6A3):c.6156+1_6156+2delinsTC	Pathogenic
17154	NM_004369.4(COL6A3):c.5177T>G (p.Leu1726Arg)	Pathogenic
1901013	NM_004369.4(COL6A3):c.2250del (p.Thr751fs)	Pathogenic
192263	NM_004369.4(COL6A3):c.8966-1G>C	Pathogenic
194744	NM_004369.4(COL6A3):c.6239G>A (p.Gly2080Asp)	Pathogenic

SpliceAI

5993 predictions. Top by Δscore:

Variant	Effect	Δscore
2:237336129:TCTTA:T	donor_loss	1.0000
2:237336130:CTTAC:C	donor_loss	1.0000
2:237336131:TTA:T	donor_loss	1.0000
2:237336132:T:TG	donor_loss	1.0000
2:237336133:A:AC	donor_gain	1.0000
2:237336133:AC:A	donor_gain	1.0000
2:237336134:C:CA	donor_loss	1.0000
2:237336134:C:CC	donor_gain	1.0000
2:237336134:CC:C	donor_gain	1.0000
2:237336246:CAG:C	donor_gain	1.0000
2:237336528:CATTT:C	acceptor_gain	1.0000
2:237336529:ATTT:A	acceptor_gain	1.0000
2:237336531:TT:T	acceptor_gain	1.0000
2:237336533:C:CA	acceptor_loss	1.0000
2:237336534:T:G	acceptor_loss	1.0000
2:237339013:A:AC	donor_gain	1.0000
2:237339014:C:CC	donor_gain	1.0000
2:237339014:CA:C	donor_gain	1.0000
2:237339014:CACTT:C	donor_gain	1.0000
2:237340450:A:AC	donor_gain	1.0000
2:237340451:C:CG	donor_gain	1.0000
2:237340451:CTG:C	donor_gain	1.0000
2:237345090:CATTG:C	acceptor_gain	1.0000
2:237346497:A:AC	donor_gain	1.0000
2:237346497:ACTT:A	donor_loss	1.0000
2:237346498:C:CC	donor_gain	1.0000
2:237346499:TTA:T	donor_loss	1.0000
2:237346500:TA:T	donor_loss	1.0000
2:237346501:A:AC	donor_gain	1.0000
2:237346501:ACAG:A	donor_gain	1.0000

AlphaMissense

20696 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:237344682:C:G	A2446P	0.999
2:237344810:A:G	L2403P	0.998
2:237367248:A:G	S1647P	0.998
2:237367254:C:G	D1645H	0.998
2:237367259:A:G	L1643P	0.998
2:237374889:C:G	A1068P	0.998
2:237344639:A:C	F2460C	0.997
2:237344687:C:G	R2444P	0.997
2:237344701:G:C	C2439W	0.997
2:237344703:A:G	C2439R	0.997
2:237367152:C:A	G1679W	0.997
2:237367247:G:A	S1647F	0.997
2:237367253:T:A	D1645V	0.997
2:237368832:A:G	L1544P	0.997
2:237368859:C:G	R1535P	0.997
2:237368861:A:C	S1534R	0.997
2:237368861:A:T	S1534R	0.997
2:237368863:T:G	S1534R	0.997
2:237372203:C:G	A1272P	0.997
2:237344702:C:G	C2439S	0.996
2:237344703:A:T	C2439S	0.996
2:237360123:C:A	G2083C	0.996
2:237367140:A:C	Y1683D	0.996
2:237367148:A:G	L1680P	0.996
2:237368860:G:T	R1535S	0.996
2:237372027:G:C	S1330R	0.996
2:237372027:G:T	S1330R	0.996
2:237372029:T:G	S1330R	0.996
2:237374996:A:G	F1032S	0.996
2:237344483:G:T	A2512D	0.995

dbSNP variants (sampled 300 via entrez): RS1000053324 (2:237362707 C>T), RS1000071529 (2:237337830 G>C,T), RS1000077065 (2:237337885 C>T), RS1000120402 (2:237401725 C>T), RS1000183863 (2:237329271 T>C,G), RS1000191731 (2:237409390 G>C), RS1000244881 (2:237370013 A>T), RS1000278811 (2:237373248 G>A), RS1000294796 (2:237407838 C>G), RS1000307843 (2:237409205 A>T), RS1000343675 (2:237396659 A>G,T), RS1000377460 (2:237380325 T>C,G), RS1000414948 (2:237403399 T>C), RS1000419345 (2:237364681 A>G), RS1000420494 (2:237373381 C>A)

Disease associations

OMIM: gene MIM:120250 | disease phenotypes: MIM:158810, MIM:254090, MIM:616411, MIM:620726, MIM:620728, MIM:605259, MIM:117000, MIM:604320

GenCC curated gene-disease

Disease	Classification	Inheritance
Bethlem myopathy 1A	Definitive	Semidominant
Ullrich congenital muscular dystrophy 1C	Definitive	Autosomal recessive
Ullrich congenital muscular dystrophy 1A	Strong	Semidominant
dystonia 27	Strong	Autosomal recessive
Bethlem myopathy	Supportive	Autosomal dominant
Ullrich congenital muscular dystrophy	Supportive	Autosomal dominant

ClinGen Gene-Disease Validity (3)

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

Disease	Classification	Inheritance
collagen 6-related myopathy	Definitive	AD
collagen 6-related myopathy	Definitive	AR
dystonia 27	Limited	AR

Mondo (19): Bethlem myopathy 1A (MONDO:0024530), Ullrich congenital muscular dystrophy 1A (MONDO:0009681), dystonia 27 (MONDO:0014627), dilated cardiomyopathy (MONDO:0005021), collagen 6-related myopathy (MONDO:0100225), limb-girdle muscular dystrophy (MONDO:0016971), Bethlem myopathy 1C (MONDO:0958234), Ullrich congenital muscular dystrophy 1C (MONDO:0958236), myopathy (MONDO:0005336), breast ductal adenocarcinoma (MONDO:0005590), intellectual disability (MONDO:0001071), muscular dystrophy (MONDO:0020121), congenital contractures (MONDO:0022823), muscle tissue disorder (MONDO:0003939), Bethlem myopathy (MONDO:0008029)

Orphanet (10): Bethlem muscular dystrophy (Orphanet:610), Primary dystonia, DYT27 type (Orphanet:464440), Ullrich congenital muscular dystrophy (Orphanet:75840), Dilated cardiomyopathy (Orphanet:217604), Limb-girdle muscular dystrophy (Orphanet:263), Muscular dystrophy (Orphanet:98473), Spinocerebellar ataxia type 13 (Orphanet:98768), Congenital myopathy (Orphanet:97245), Autosomal recessive distal hereditary motor neuropathy (Orphanet:140468), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

91 total (30 of 91 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000174	Abnormal palate morphology
HP:0000347	Micrognathia
HP:0000467	Neck muscle weakness
HP:0000470	Short neck
HP:0000473	Torticollis
HP:0000565	Esotropia
HP:0000962	Hyperkeratosis
HP:0001073	Cigarette-paper scars
HP:0001181	Adducted thumb
HP:0001220	Interphalangeal joint contracture of finger
HP:0001238	Slender finger
HP:0001239	Wrist flexion contracture
HP:0001252	Hypotonia
HP:0001270	Motor delay
HP:0001288	Gait disturbance
HP:0001290	Generalized hypotonia
HP:0001324	Muscle weakness
HP:0001371	Flexion contracture
HP:0001374	Congenital hip dislocation
HP:0001382	Joint hypermobility
HP:0001558	Decreased fetal movement
HP:0001771	Achilles tendon contracture
HP:0002086	Abnormality of the respiratory system
HP:0002174	Postural tremor
HP:0002345	Action tremor
HP:0002356	Writer’s cramp
HP:0002359	Frequent falls
HP:0002451	Limb dystonia

GWAS associations

19 associations (top):

Study	Trait	p-value
GCST001166_7	Aging (time to event)	8.000000e-06
GCST004748_77	Lung cancer	7.000000e-06
GCST005170_25	Intraocular pressure	1.000000e-08
GCST005195_84	Coronary artery disease	3.000000e-08
GCST005580_11	Intraocular pressure	6.000000e-15
GCST005580_241	Intraocular pressure	1.000000e-16
GCST006979_95	Heel bone mineral density	7.000000e-17
GCST007096_206	Pulse pressure	5.000000e-08
GCST008987_1	HDL cholesterol	1.000000e-06
GCST008988_2	LDL cholesterol	1.000000e-06
GCST009197_11	Cortex volume	3.000000e-06
GCST009303_15	Abstraction and mental flexibility	5.000000e-06
GCST009879_6	Coronary artery disease	3.000000e-28
GCST010476_6	Myocardial infarction	1.000000e-24
GCST010477_3	Hypertension	4.000000e-07
GCST010478_11	Chronic kidney disease	3.000000e-07
GCST010836_7	Ischemic stroke	1.000000e-08
GCST010866_5	Coronary artery disease	4.000000e-09
GCST90013466_68	Height	2.000000e-08

EFO canonical traits (7, from GWAS)

EFO ID	Trait name
EFO:0022597	aging
EFO:0004695	intraocular pressure measurement
EFO:0009270	heel bone mineral density
EFO:0005763	pulse pressure measurement
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0009332	executive function measurement

MeSH disease descriptors (9)

Descriptor	Name	Tree numbers
D018270	Carcinoma, Ductal, Breast	C04.557.470.200.025.232.500; C04.557.470.615.132.500; C04.588.180.390; C17.800.090.500.390
D002311	Cardiomyopathy, Dilated	C14.280.195.160; C14.280.238.070; C16.320.488.750
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D009135	Muscular Diseases	C05.651; C10.668.491
D009136	Muscular Dystrophies	C05.651.534.500; C10.668.491.175.500; C16.320.577
D049288	Muscular Dystrophies, Limb-Girdle	C05.651.534.500.280; C10.668.491.175.500.149; C16.320.577.280
C535436	Bethlem myopathy (supp.)
C537521	Scleroatonic muscular dystrophy (supp.)
C537195	Spinocerebellar ataxia 13 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL2364188 (PROTEIN COMPLEX GROUP)

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

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs12622722	COL6A3		0.00	0

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, decreases expression	7
Cyclosporine	affects cotreatment, decreases reaction, increases response to substance, decreases expression, increases methylation	4
bisphenol A	decreases methylation, increases expression, affects cotreatment, affects methylation, decreases expression	3
sodium arsenite	increases abundance, increases expression, affects cotreatment, decreases expression	3
Benzo(a)pyrene	decreases expression, decreases methylation, increases expression, increases methylation	3
Cadmium Chloride	decreases expression, increases abundance, increases expression	3
trichostatin A	affects cotreatment, increases expression	2
entinostat	increases expression, affects cotreatment	2
bisphenol S	decreases expression, increases expression	2
bisphenol AF	decreases expression, increases expression	2
Panobinostat	increases expression, affects cotreatment	2
Arsenic	affects methylation, affects cotreatment, decreases expression, increases abundance	2
Cadmium	decreases expression, increases abundance, increases expression	2
Doxorubicin	affects response to substance, decreases expression	2
Estradiol	affects cotreatment, decreases expression, increases expression	2
Fluorouracil	affects response to substance, affects reaction, decreases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Tobacco Smoke Pollution	affects expression, decreases expression	2
FR900359	increases phosphorylation	1
bisphenol F	increases expression	1
sotorasib	decreases expression, affects cotreatment	1
triphenyl phosphate	affects expression	1
terbufos	increases methylation	1
arsenite	affects binding, decreases reaction	1
perfluorooctanoic acid	increases expression	1
manganese chloride	increases abundance, affects cotreatment, decreases expression	1
mercuric bromide	affects cotreatment, increases expression	1
1,2-bis(2-aminophenoxy)ethane N,N,N’,N’-tetraacetic acid acetoxymethyl ester	affects cotreatment, decreases reaction, increases response to substance	1
CGP 52608	affects binding, increases reaction	1
corosolic acid	increases expression	1

Cellosaurus cell lines

8 cell lines: 4 transformed cell line, 2 cancer cell line, 1 finite cell line, 1 induced pluripotent stem cell

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

Cellosaurus	Name	Category	Sex
CVCL_4T65	GM24239	Transformed cell line	Male
CVCL_4T72	GM24391	Transformed cell line	Female
CVCL_A9YZ	NCC-TGCT1-C1	Cancer cell line	Female
CVCL_AZ48	GM24234	Transformed cell line	Female
CVCL_AZ50	GM24343	Transformed cell line	Male
CVCL_B0IE	GM28234	Finite cell line	Female
CVCL_E0AQ	Ubigene HeLa COL6A3 KO	Cancer cell line	Female
CVCL_F1AE	GM29847	Induced pluripotent stem cell	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00374465	PHASE4	UNKNOWN	Therapy With Verapamil or Carvedilol in Chronic Heart Failure
NCT01293903	PHASE4	COMPLETED	Study of Qiliqiangxin Capsule to Treat Dilated Cardiomyopathy
NCT01557140	PHASE4	COMPLETED	A Randomized Trial of Carvedilol in Chronic Chagas Cardiomyopathy
NCT01917149	PHASE4	COMPLETED	Supramaximal Titrated Inhibition of RAAS in Dilated Cardiomyopathy
NCT02115581	PHASE4	COMPLETED	Coenzyme Q10 Supplementation in Children With Idiopathic Dilated Cardiomyopathy
NCT06236022	PHASE4	RECRUITING	The Effects of Sirolimus in Patients With Dilated Cardiomyopathy Infected With Kaposi Sarcoma-associated Virus
NCT00120055	PHASE4	COMPLETED	Association Between Systemic Exposure of Atorvastatin and Metabolites and Atorvastatin-induced Myotoxicity
NCT03633565	PHASE4	UNKNOWN	Comparative Study of Strategies for Management of Duchenne Myopathy (DM)
NCT05657860	PHASE4	COMPLETED	Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome
NCT05744479	PHASE4	RECRUITING	Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability
NCT06107829	PHASE4	WITHDRAWN	Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities
NCT06997198	PHASE4	NOT_YET_RECRUITING	Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities
NCT00333827	PHASE3	COMPLETED	Cell Therapy In Dilated Cardiomyopathy
NCT00505154	PHASE3	COMPLETED	Effect of Rosuvastatin on Left Ventricular Remodeling
NCT01223703	PHASE3	COMPLETED	PUFAs and Left Ventricular Function in Heart Failure
NCT01583114	PHASE3	TERMINATED	PREclinical Mutation CARriers From Families With DIlated Cardiomyopathy and ACE Inhibitors
NCT01914081	PHASE3	UNKNOWN	Resveratrol: A Potential Anti- Remodeling Agent in Heart Failure, From Bench to Bedside
NCT02989181	PHASE3	UNKNOWN	Continues Positive Airway Pressure Treatment for Patients With Dilated Cardiomyopathy and Obstructive Sleep Apnea
NCT03439514	PHASE3	TERMINATED	A Study of ARRY-371797 (PF-07265803) in Patients With Symptomatic Dilated Cardiomyopathy Due to a Lamin A/C Gene Mutation
NCT05237323	PHASE3	COMPLETED	Micophenolate Mofetil Versus Azathioprine in Myocarditis
NCT05849766	PHASE3	COMPLETED	Effect of Dapagliflozin on Cardiac Structure, Function and Secondary Mitral Regurgitation in Patients with Left Ventricle Dysfunction
NCT06250257	PHASE3	RECRUITING	Bromocriptine in Dilated Cardiomyopathy Among Women of Reproductive Age
NCT03783923	PHASE3	TERMINATED	A Study of Deflazacort (Emflaza®) in Participants With Limb-Girdle Muscular Dystrophy 2I (LGMD2I)
NCT06246513	PHASE3	ACTIVE_NOT_RECRUITING	A Trial to Learn More About an Experimental Gene Therapy Called Bidridistrogene Xeboparvovec (SRP-9003) as a Possible Treatment for Limb Girdle Muscular Dystrophy 2E/R4
NCT01225614	PHASE3	UNKNOWN	Efficacy and Tolerance of Early Launching of Nocturnal Non Invasive
NCT03414970	PHASE3	ACTIVE_NOT_RECRUITING	Hypofractionated Radiation Therapy After Mastectomy in Preventing Recurrence in Patients With Stage IIa-IIIa Breast Cancer
NCT01438788	PHASE2	COMPLETED	Low Protein Diet in Patients With Collagen VI Related Myopathies
NCT00629018	PHASE2	COMPLETED	Safety and Efficacy Study of Stem Cell Transplantation to Treat Dilated Cardiomyopathy
NCT00629096	PHASE2	COMPLETED	Intracoronary Infusion of Autologous Bone Marrow Cells for Treatment of Idiopathic Dilated Cardiomyopathy
NCT00765518	PHASE2	COMPLETED	Use of Ixmyelocel-T (Formerly Cardiac Repair Cell [CRC] Treatment) in Patients With Heart Failure Due to Dilated Cardiomyopathy (IMPACT-DCM)
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