COL6A2

Summary

COL6A2 (collagen type VI alpha 2 chain, HGNC:2212) is a protein-coding gene on chromosome 21q22.3, encoding Collagen alpha-2(VI) chain (P12110). Collagen VI acts as a cell-binding protein.

This gene encodes one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The product of this gene contains several domains similar to von Willebrand Factor type A domains. 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 this gene are associated with Bethlem myopathy and Ullrich scleroatonic muscular dystrophy. Three transcript variants have been identified for this gene.

Source: NCBI Gene 1292 — RefSeq curated summary.

At a glance

• Gene–disease (curated): collagen 6-related myopathy (Definitive, ClinGen) — +6 more curated relationships
• GWAS associations: 10
• Clinical variants (ClinVar): 2,385 total — 158 pathogenic, 89 likely-pathogenic
• Phenotypes (HPO): 96
• Druggable target: yes
• MANE Select transcript: NM_001849

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2212
Approved symbol	COL6A2
Name	collagen type VI alpha 2 chain
Location	21q22.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000142173
Ensembl biotype	protein_coding
OMIM	120240
Entrez	1292

Gene structure

Transcript identifiers

Ensembl transcripts: 36 — 34 protein_coding, 1 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000300527, ENST00000397763, ENST00000409416, ENST00000413758, ENST00000436769, ENST00000460886, ENST00000485591, ENST00000857090, ENST00000857091, ENST00000857092, ENST00000857093, ENST00000857094, ENST00000857095, ENST00000857096, ENST00000857097, ENST00000857098, ENST00000857099, ENST00000857100, ENST00000857101, ENST00000857102, ENST00000857103, ENST00000857104, ENST00000857105, ENST00000857106, ENST00000857107, ENST00000857108, ENST00000857109, ENST00000934971, ENST00000934972, ENST00000968878, ENST00000968879, ENST00000968880, ENST00000968881, ENST00000968882, ENST00000968883, ENST00000968884

RefSeq mRNA: 3 — MANE Select: NM_001849 NM_001849, NM_058174, NM_058175

CCDS: CCDS13728, CCDS13729, CCDS13730

Canonical transcript exons

ENST00000300527 — 28 exons

Exon	Start	End
ENSE00000952665	46111450	46111591
ENSE00000952667	46112804	46112824
ENSE00000952674	46117400	46117453
ENSE00000952678	46119788	46119850
ENSE00000952683	46122496	46122531
ENSE00000952691	46131954	46132848
ENSE00000952695	46119030	46119119
ENSE00000952696	46120515	46120577
ENSE00000952697	46122875	46122937
ENSE00000952699	46121061	46121123
ENSE00000952704	46117874	46117936
ENSE00000952705	46124885	46124920
ENSE00000952707	46118614	46118676
ENSE00001110398	46126503	46126541
ENSE00001133859	46125785	46126237
ENSE00001134048	46111979	46112577
ENSE00001218880	46125266	46125311
ENSE00001219263	46124651	46124713
ENSE00001219267	46122108	46122158
ENSE00001219302	46125465	46125617
ENSE00001219451	46114008	46114073
ENSE00001332369	46121556	46121618
ENSE00003473000	46116009	46116053
ENSE00003477309	46115872	46115925
ENSE00003564562	46116651	46116677
ENSE00003589368	46116377	46116403
ENSE00003652273	46116770	46116814
ENSE00003995085	46098112	46098173

Expression profiles

Bgee: expression breadth ubiquitous, 263 present calls, max score 99.84.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 451.5416 / max 5360.4768, expressed in 1512 samples.

FANTOM5 promoters (10 alternative TSS)

Promoter ID	TPM avg	Samples expressed
189651	438.5813	1509
189652	4.8565	616
189653	1.7477	476
189666	1.6808	549
189655	1.6699	562
189650	1.2871	540
189665	0.7219	390
189678	0.5469	307
189684	0.2258	123
189683	0.2237	142

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
stromal cell of endometrium	CL:0002255	99.84	gold quality
right coronary artery	UBERON:0001625	99.80	gold quality
descending thoracic aorta	UBERON:0002345	99.76	gold quality
ascending aorta	UBERON:0001496	99.74	gold quality
thoracic aorta	UBERON:0001515	99.74	gold quality
body of uterus	UBERON:0009853	99.74	gold quality
lower esophagus muscularis layer	UBERON:0035833	99.73	gold quality
lower esophagus	UBERON:0013473	99.72	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	99.72	gold quality
muscle layer of sigmoid colon	UBERON:0035805	99.71	gold quality
mucosa of stomach	UBERON:0001199	99.70	gold quality
left uterine tube	UBERON:0001303	99.70	gold quality
aorta	UBERON:0000947	99.69	gold quality
endocervix	UBERON:0000458	99.68	gold quality
coronary artery	UBERON:0001621	99.68	gold quality
saphenous vein	UBERON:0007318	99.68	gold quality
left coronary artery	UBERON:0001626	99.67	gold quality
popliteal artery	UBERON:0002250	99.66	gold quality
tibial artery	UBERON:0007610	99.66	gold quality
cartilage tissue	UBERON:0002418	99.65	gold quality
right ovary	UBERON:0002118	99.64	gold quality
left ovary	UBERON:0002119	99.59	gold quality
myometrium	UBERON:0001296	99.51	gold quality
omental fat pad	UBERON:0010414	99.45	gold quality
gall bladder	UBERON:0002110	99.40	gold quality
peritoneum	UBERON:0002358	99.40	gold quality
decidua	UBERON:0002450	99.40	gold quality
colonic epithelium	UBERON:0000397	99.38	gold quality
adipose tissue of abdominal region	UBERON:0007808	99.38	gold quality
urethra	UBERON:0000057	99.37	gold quality

Single-cell (SCXA)

Detected in 46 experiment(s), a significant marker in 43.

Experiment	Marker?	Max mean expression
E-HCAD-24	yes	4320.46
E-MTAB-6701	yes	3602.60
E-MTAB-8142	yes	3506.70
E-MTAB-8322	yes	2972.40
E-MTAB-8410	yes	2544.00
E-ANND-2	yes	2264.62
E-HCAD-11	yes	2254.07
E-MTAB-9906	yes	2215.92
E-MTAB-9841	yes	1859.06
E-CURD-88	yes	1569.68
E-CURD-122	yes	1561.11
E-MTAB-5061	yes	1504.94
E-MTAB-10485	yes	1215.88
E-MTAB-7407	yes	1186.00
E-CURD-46	yes	1039.97

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): SMAD3, SMAD7

miRNA regulators (miRDB)

7 targeting COL6A2, 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-5682	99.89	72.56	1005
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-7106-5P	99.53	67.47	3574
HSA-MIR-6722-3P	99.45	67.62	1919

Literature-anchored findings (GeneRIF, showing 30)

• 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 globular domain of COL6A2 is not essential for triple-helix formation but is critical for microfibrillar assembly in Ullrich congenital muscular dystrophy (PMID:12218063)
• A case of Ullrich disease is associated with complete deficiency of collagen VI and compound heterozygous mutations in the collagen VI alpha 2 gene with absence of microfibrils on electron microscopy. (PMID:12297580)
• Bethlem myopathy is an autosomal dominantly inherited myopathy with contractures, caused by mutations in COL6A1 gene, COL6A2 gene or COL6A3 gene. (PMID:12374585)
• In Ullrich syndrome, a heterozygous G-to-A substitution at position +5 in intron 23 & the corresponding heterozygous 6-bp deletion in exon 26 which deleted 1 of the 2 tandem repeats of the sequence CATCGG in nt 2268-2273 & 2274-2279 in COL6A2 ORF. (PMID:14981181)
• dominant mutations are common in Ullrich congenital muscular dystrophy (UCMD). (PMID:15563506)
• diminished COL6A2 mRNA expression found to be primary pathogenic mechanism in UCMD patient (PMID:16075202)
• This study demonstrates a homogenoeous overexpression of the genes encoding for alpha1 and alpha2 chains of collagen type VI in nuchal skin of human trisomy 21 fetuses. (PMID:17602442)
• 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)
• Results describe the characteristic features of myosclerosis myopathy with a homozygous collagen type 6A2 mutation responsible for a peculiar pattern of collagen VI defects. (PMID:18852439)
• Four patients affected by Ullrich congenital muscular dystrophy and carrying unusual mutations of COL6 genes affecting RNA splicing, were identified. (PMID:19309692)
• The alpha2(VI) chain modulates matrix-metalloproteinase (MMP) availability by sequestering proMMPs in the extracellular matrix, blocking proteolytic activity. (PMID:19698785)
• the C2A splice variant has a role in recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy (PMID:20106987)
• A deletion within intron 1A of the COL6A2 gene, occurring in compound heterozygosity with a small deletion in exon 28, was identified in a BM patient. (PMID:20302629)
• Homozygous COL6A2 mutation, p.Asp215Asn, was identified in both affected siblings. We conclude that the COL6A2 p.Asp215Asn mutation is likely to be responsible for PME (Progressive Myoclonus Epilepsy) in this family. (PMID:23138527)
• COL6A2 is overexpressed in Down syndrome-affected umbilical cords at early and term gestational ages. (PMID:23452080)
• 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)
• In UCMD, 8 mutations were identified in COL6A2 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)
• Mutations in COL6A2 gene are associated with aberrant mitochondria in Bethlem myopathy. (PMID:25533456)
• binding of collagen VI to NG2 is essential for the direction of tendon fibroblasts migration in vitro. (PMID:26944560)
• Genetic study showed a missense mutation in COL6A2 (c.820 G>A, p.Gly268Ser) that causes a glycine substitution in the Gly-X-Y collagenous motif, at the beginning of the collagenous triple helical domain. The c.820 G>A mutation segregated in all the affected patients. (PMID:27563703)
• Tendon Extracellular Matrix Remodeling and Defective Cell Polarization in the Presence of Collagen VI Mutations. (PMID:32053901)
• Proteomics Profiling Reveals Insulin-Like Growth Factor 1, Collagen Type VI alpha-2 Chain, and Fermitin Family Homolog 3 as Potential Biomarkers of Plaque Erosion in ST-Segment Elevated Myocardial Infarction. (PMID:32350230)
• Use of RNAsequencing to detect abnormal transcription of the collagen alpha2 (VI) chain gene that can lead to Bethlem myopathy. (PMID:33537799)
• Collagen type VIalpha1 and 2 repress the proliferation, migration and invasion of bladder cancer cells. (PMID:33982770)
• The Presentation of Two Unrelated Clinical Cases from the Republic of North Ossetia-Alania with the Same Previously Undescribed Variant in the COL6A2 Gene. (PMID:36292982)
• Role of COL6A2 in malignant progression and temozolomide resistance of glioma. (PMID:36521657)
• Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 Genes. (PMID:36982625)
• A novel interplay between PRC2 and miR-3189 regulates epithelial-mesenchymal transition (EMT) via modulating COL6A2 in glioblastoma. (PMID:38860406)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	col6a2	ENSDARG00000061436
mus_musculus	Col6a2	ENSMUSG00000020241
rattus_norvegicus	Col6a2	ENSRNOG00000001254

Paralogs (37): COL9A2 (ENSG00000049089), COL23A1 (ENSG00000050767), COL11A1 (ENSG00000060718), COL17A1 (ENSG00000065618), COL5A3 (ENSG00000080573), COL4A4 (ENSG00000081052), COL16A1 (ENSG00000084636), COL9A3 (ENSG00000092758), COL20A1 (ENSG00000101203), COL1A1 (ENSG00000108821), COL9A1 (ENSG00000112280), COL7A1 (ENSG00000114270), COL21A1 (ENSG00000124749), COL5A1 (ENSG00000130635), COL4A2 (ENSG00000134871), COL2A1 (ENSG00000139219), COL6A1 (ENSG00000142156), EDA (ENSG00000158813), COL26A1 (ENSG00000160963), COL1A2 (ENSG00000164692), COL3A1 (ENSG00000168542), COL4A3 (ENSG00000169031), COL22A1 (ENSG00000169436), COL24A1 (ENSG00000171502), COL18A1 (ENSG00000182871), EMID1 (ENSG00000186998), COL4A1 (ENSG00000187498), COL4A5 (ENSG00000188153), COL25A1 (ENSG00000188517), COL27A1 (ENSG00000196739), COL13A1 (ENSG00000197467), COL4A6 (ENSG00000197565), COL11A2 (ENSG00000204248), COL5A2 (ENSG00000204262), COL15A1 (ENSG00000204291), COLQ (ENSG00000206561), COL28A1 (ENSG00000215018)

Protein

Protein identifiers

Collagen alpha-2(VI) chain — P12110 (reviewed: P12110)

All UniProt accessions (4): P12110, A0A384MDP3, C9JH44, H7C0M5

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). Interacts with CSPG4.

Subcellular location. Secreted. Extracellular space. Extracellular matrix. Membrane.

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.

Disease relevance. Bethlem myopathy 1B (BTHLM1B) [MIM:620725] 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. Inheritance can be autosomal dominant or autosomal recessive. The disease is caused by variants affecting the gene represented in this entry. Ullrich congenital muscular dystrophy 1B (UCMD1B) [MIM:620727] 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. Myosclerosis autosomal recessive (MYOSAR) [MIM:255600] A condition characterized by chronic inflammation of skeletal muscle with hyperplasia of the interstitial connective tissue. The clinical picture includes slender muscles with firm ‘woody’ consistency and restriction of movement of many joints because of muscle contractures. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the type VI collagen family.

Isoforms (3)

UniProt ID	Names	Canonical?
P12110-1	2C2	yes
P12110-2	2C2A
P12110-3	2C2A’

RefSeq proteins (3): NP_001840, NP_478054, NP_478055 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002035	VWF_A	Domain
IPR008160	Collagen	Repeat
IPR036465	vWFA_dom_sf	Homologous_superfamily
IPR052229	Collagen-VI/PIF	Family

Pfam: PF00092, PF01391

UniProt features (63 total): sequence variant 29, compositionally biased region 6, glycosylation site 6, short sequence motif 5, splice variant 4, region of interest 4, domain 3, modified residue 2, sequence conflict 2, signal peptide 1, chain 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
9GTU	ELECTRON MICROSCOPY	3.14

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P12110-F1	69.58	0.18

Functional residue map

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

Post-translational modifications (2): 701, 705

Glycosylation sites (6): 140, 327, 630, 785, 897, 954

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: 428 (showing top): PAL_PRMT5_TARGETS_UP, GOCC_COLLAGEN_TRIMER, REACTOME_NCAM_SIGNALING_FOR_NEURITE_OUT_GROWTH, HUMMERICH_SKIN_CANCER_PROGRESSION_DN, CLASPER_LYMPHATIC_VESSELS_DURING_METASTASIS_DN, MODULE_66, BROWNE_HCMV_INFECTION_48HR_DN, MARTINEZ_RB1_TARGETS_UP, ROZANOV_MMP14_TARGETS_UP, CHARAFE_BREAST_CANCER_BASAL_VS_MESENCHYMAL_DN, BLALOCK_ALZHEIMERS_DISEASE_UP, GOMF_EXTRACELLULAR_MATRIX_STRUCTURAL_CONSTITUENT, GNF2_CDH11, GOBP_PHOSPHATIDYLINOSITOL_3_KINASE_PROTEIN_KINASE_B_SIGNAL_TRANSDUCTION, RIGGI_EWING_SARCOMA_PROGENITOR_DN

GO Biological Process (5): cell adhesion (GO:0007155), 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 (3): collagen binding (GO:0005518), extracellular matrix structural constituent conferring tensile strength (GO:0030020), protein binding (GO:0005515)

GO Cellular Component (11): extracellular region (GO:0005576), collagen type VI trimer (GO:0005589), obsolete extracellular space (GO:0005615), endoplasmic reticulum lumen (GO:0005788), extracellular matrix (GO:0031012), protein-containing complex (GO:0032991), sarcolemma (GO:0042383), extracellular exosome (GO:0070062), extracellular vesicle (GO:1903561), collagen trimer (GO:0005581), membrane (GO:0016020)

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 anatomical structure	2
cellular process	1
response to light stimulus	1
response to hexose	1
intracellular signaling cassette	1
apoptotic process	1
protein-containing complex binding	1
extracellular matrix structural constituent	1
binding	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
cellular_component	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

2538 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
COL6A2	COL6A3	P12111	978
COL6A2	COL6A1	P12109	965
COL6A2	LAMB1	P07942	818
COL6A2	A0A087WVV2	A0A087WVV2	784
COL6A2	FN1	P02751	758
COL6A2	COL1A1	P02452	716
COL6A2	BGN	P13247	701
COL6A2	PFKL	P17858	674
COL6A2	NID1	P14543	639
COL6A2	ICAM1	P05362	634
COL6A2	ITGA5	P08648	632
COL6A2	LAMC1	P11047	631
COL6A2	TNXB	P22105	623
COL6A2	LAMA5	O15230	619
COL6A2	DMD	P11532	618

IntAct

139 interactions, top by confidence:

A	B	Type	Score
C1QTNF9	C1QTNF9B	psi-mi:“MI:0914”(association)	0.780
CA10	WDHD1	psi-mi:“MI:0914”(association)	0.640
MMP9	TIMP1	psi-mi:“MI:0914”(association)	0.640
DKKL1	DENND11	psi-mi:“MI:0914”(association)	0.640
MMP2	COL4A1	psi-mi:“MI:0914”(association)	0.640
PLA2G10	CHEK1	psi-mi:“MI:0914”(association)	0.530
TAFA4	NRP1	psi-mi:“MI:0914”(association)	0.530
WNT10B	LRP6	psi-mi:“MI:0914”(association)	0.530
SCGB1D4	EGFR	psi-mi:“MI:0914”(association)	0.530
COLGALT2	COL1A1	psi-mi:“MI:0914”(association)	0.530
DEFB121	COL6A2	psi-mi:“MI:0914”(association)	0.530
FBXO2	TMEM131L	psi-mi:“MI:0914”(association)	0.530
INSL5	COCH	psi-mi:“MI:0914”(association)	0.530
C1QTNF9B	PLOD3	psi-mi:“MI:0914”(association)	0.530
PLOD3	COL4A1	psi-mi:“MI:0914”(association)	0.530
CTSG	MANBA	psi-mi:“MI:0914”(association)	0.530
PLOD3	PLOD2	psi-mi:“MI:0914”(association)	0.530
GPIHBP1	ADAM10	psi-mi:“MI:0914”(association)	0.530
LAIR2	LAMA5	psi-mi:“MI:0914”(association)	0.530
EDN3	MGRN1	psi-mi:“MI:0914”(association)	0.530

BioGRID (109): COL6A2 (Affinity Capture-MS), COL6A2 (Affinity Capture-MS), COL6A2 (Affinity Capture-MS), COL6A2 (Affinity Capture-MS), COL6A2 (Affinity Capture-MS), COL6A2 (Affinity Capture-MS), COL6A2 (Affinity Capture-MS), COL6A2 (Affinity Capture-MS), COL6A2 (Affinity Capture-MS), COL6A2 (Affinity Capture-MS), COL6A2 (Affinity Capture-MS), COL6A2 (Affinity Capture-MS), COL6A2 (Affinity Capture-MS), COL6A2 (Affinity Capture-MS), COL6A2 (Affinity Capture-MS)

ESM2 similar proteins: A2AX52, A6H584, A6NMZ7, A8K7I4, A8TX70, E1BMV3, O35701, O42401, O54890, P05099, P12110, P12111, P13612, P13944, P15988, P15989, P17301, P18563, P18564, P20785, P21941, P51942, P53710, P56652, P61622, P97280, Q00651, Q02788, Q04857, Q06033, Q1RPR6, Q2TU62, Q5RB37, Q60847, Q61704, Q62469, Q62935, Q63416, Q6AYF4, Q6PT52

Diamond homologs: A2AX52, A6H584, A6NMZ7, A6QLN9, A8TX70, E7FF10, O00339, O08746, O15232, O35701, O42401, O43405, O75578, O89029, O95460, P05555, P12109, P12110, P12111, P13944, P15989, P17301, P18614, P20702, P20785, P32018, P34576, P53710, P56199, P61622, P61625, P84552, Q02388, Q04857, Q05707, Q21281, Q21540, Q28295, Q28902, Q2UY09

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
COL6A2	up-regulates	ECM_synthesis

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 160 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Negative regulation of TCF-dependent signaling by WNT ligand antagonists	5	31.9×	4e-05
WNT ligand biogenesis and trafficking	5	18.9×	4e-04
Collagen biosynthesis and modifying enzymes	12	18.3×	7e-10
Collagen chain trimerization	7	16.2×	3e-05
Collagen degradation	10	15.7×	1e-07
Beta defensins	6	14.6×	2e-04
Defensins	6	12.8×	4e-04
Assembly of collagen fibrils and other multimeric structures	7	12.5×	1e-04

GO biological processes:

GO term	Partners	Fold	FDR
collagen biosynthetic process	5	37.4×	7e-05
cell fate commitment	7	14.7×	1e-04
collagen fibril organization	9	14.3×	2e-05
canonical Wnt signaling pathway	10	10.9×	2e-05
defense response to Gram-negative bacterium	7	8.4×	3e-03
transforming growth factor beta receptor signaling pathway	7	7.9×	3e-03
neuron differentiation	9	6.4×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

2385 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	158
Likely pathogenic	89
Uncertain significance	829
Likely benign	660
Benign	141

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1029383	NM_058174.3(COL6A2):c.2554C>T (p.Gln852Ter)	Pathogenic
1060752	NM_001849.4(COL6A2):c.2097_2098delinsTA (p.Gly700Ser)	Pathogenic
1061166	NM_001849.4(COL6A2):c.2832_2927del (p.Phe944_Ala975del)	Pathogenic
1068296	NM_001849.4(COL6A2):c.1053+2T>G	Pathogenic
1070014	NC_000021.8:g.(?_47529674)_47540994del	Pathogenic
1070015	NC_000021.8:g.(?_47533070)_47584395del	Pathogenic
1070123	NM_001849.4(COL6A2):c.2023C>T (p.Gln675Ter)	Pathogenic
1070535	NM_001849.4(COL6A2):c.999+9_1053+32delinsGCTGAAGGAGGGGTGCAAACGGCCCTTACCCGGTTTCCAGGGTCTCCCTTGCAGCCTTCA	Pathogenic
1071804	NM_001849.4(COL6A2):c.955-1G>C	Pathogenic
1072953	NM_001849.4(COL6A2):c.1053+2T>A	Pathogenic
1073260	NM_001849.4(COL6A2):c.998del (p.Lys333fs)	Pathogenic
1073867	NM_001849.4(COL6A2):c.954G>C (p.Lys318Asn)	Pathogenic
1073909	NM_001849.4(COL6A2):c.2560_2569dup (p.Glu857fs)	Pathogenic
1074374	NM_001849.4(COL6A2):c.1075dup (p.Glu359fs)	Pathogenic
1075831	NM_001849.4(COL6A2):c.2500_2501del (p.Ile834fs)	Pathogenic
1184919	NM_001849.4(COL6A2):c.439C>T (p.Gln147Ter)	Pathogenic
1322143	NM_001849.4(COL6A2):c.869_899del (p.Ile290fs)	Pathogenic
1322144	NM_001849.4(COL6A2):c.2082_2083dup (p.Glu695fs)	Pathogenic
1322145	NM_001849.4(COL6A2):c.1479dup (p.Asp494Ter)	Pathogenic
1348005	NM_001849.4(COL6A2):c.821G>A (p.Gly274Asp)	Pathogenic
1351958	NM_001849.4(COL6A2):c.874G>A (p.Gly292Ser)	Pathogenic
1358090	NM_001849.4(COL6A2):c.2341C>T (p.Gln781Ter)	Pathogenic
1407076	NM_001849.4(COL6A2):c.1332+2T>C	Pathogenic
1426820	NM_001849.4(COL6A2):c.2851_2852del (p.Val951fs)	Pathogenic
1445193	NM_001849.4(COL6A2):c.884G>A (p.Gly295Glu)	Pathogenic
1451727	NM_001849.4(COL6A2):c.2586dup (p.Leu863fs)	Pathogenic
1452401	NM_001849.4(COL6A2):c.288C>A (p.Tyr96Ter)	Pathogenic
1454472	NM_001849.4(COL6A2):c.2133C>A (p.Tyr711Ter)	Pathogenic
1455508	NC_000021.8:g.(?47536737)(47537399_?)del	Pathogenic
1455757	NM_001849.4(COL6A2):c.884G>T (p.Gly295Val)	Pathogenic

SpliceAI

3932 predictions. Top by Δscore:

Variant	Effect	Δscore
21:46098171:CAGG:C	donor_loss	1.0000
21:46098174:G:C	donor_loss	1.0000
21:46112937:G:GT	donor_gain	1.0000
21:46114006:A:AG	acceptor_gain	1.0000
21:46114007:G:GG	acceptor_gain	1.0000
21:46115867:TTTA:T	acceptor_loss	1.0000
21:46115870:A:AG	acceptor_gain	1.0000
21:46115870:A:T	acceptor_loss	1.0000
21:46115870:AG:A	acceptor_gain	1.0000
21:46115871:G:A	acceptor_gain	1.0000
21:46115871:G:GG	acceptor_gain	1.0000
21:46115871:GGGT:G	acceptor_gain	1.0000
21:46115921:GACAG:G	donor_gain	1.0000
21:46115926:G:GG	donor_gain	1.0000
21:46115926:GT:G	donor_loss	1.0000
21:46115927:T:A	donor_loss	1.0000
21:46116003:TCACA:T	acceptor_loss	1.0000
21:46116004:CACA:C	acceptor_loss	1.0000
21:46116005:A:AG	acceptor_gain	1.0000
21:46116005:ACAG:A	acceptor_gain	1.0000
21:46116006:CAG:C	acceptor_loss	1.0000
21:46116007:A:AG	acceptor_gain	1.0000
21:46116007:AG:A	acceptor_gain	1.0000
21:46116007:AGG:A	acceptor_gain	1.0000
21:46116008:G:GA	acceptor_gain	1.0000
21:46116008:GG:G	acceptor_gain	1.0000
21:46116008:GGG:G	acceptor_gain	1.0000
21:46116008:GGGA:G	acceptor_gain	1.0000
21:46116052:AGGTG:A	donor_loss	1.0000
21:46116054:G:GA	donor_loss	1.0000

AlphaMissense

6637 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
21:46125512:A:C	S622R	1.000
21:46125514:C:A	S622R	1.000
21:46125514:C:G	S622R	1.000
21:46125516:C:T	S623F	1.000
21:46125901:T:A	W696R	1.000
21:46125901:T:C	W696R	1.000
21:46125903:G:C	W696C	1.000
21:46125903:G:T	W696C	1.000
21:46116027:G:T	G292C	0.999
21:46116037:G:A	G295E	0.999
21:46125300:G:A	C602Y	0.999
21:46125509:G:C	D621H	0.999
21:46125510:A:C	D621A	0.999
21:46125510:A:T	D621V	0.999
21:46125513:G:T	S622I	0.999
21:46125515:T:C	S623P	0.999
21:46125516:C:A	S623Y	0.999
21:46125521:A:C	S625R	0.999
21:46125523:C:A	S625R	0.999
21:46125523:C:G	S625R	0.999
21:46125539:T:C	F631L	0.999
21:46125540:T:C	F631S	0.999
21:46125540:T:G	F631C	0.999
21:46125541:C:A	F631L	0.999
21:46125541:C:G	F631L	0.999
21:46125561:T:A	V638D	0.999
21:46125811:A:C	S666R	0.999
21:46125813:C:A	S666R	0.999
21:46125813:C:G	S666R	0.999
21:46125887:T:A	V691D	0.999

dbSNP variants (sampled 300 via entrez): RS1000088379 (21:46121235 A>C), RS1000213329 (21:46128229 C>G), RS1000252994 (21:46097995 C>T), RS1000308445 (21:46100635 G>A), RS1000381308 (21:46103865 A>G), RS1000496223 (21:46114298 G>A), RS1000595507 (21:46118656 A>T), RS1000645836 (21:46125723 A>C,G), RS1000659579 (21:46110078 T>G), RS1000671092 (21:46099302 A>G), RS1000813287 (21:46105538 A>G), RS1000821297 (21:46130493 A>ACAGGG), RS1000846239 (21:46105268 C>T), RS1000917621 (21:46111078 T>C,G), RS1000968931 (21:46115385 A>G)

Disease associations

OMIM: gene MIM:120240 | disease phenotypes: MIM:158810, MIM:255600, MIM:620725, MIM:620727, MIM:254090, MIM:117000, MIM:118220

GenCC curated gene-disease

Disease	Classification	Inheritance
Ullrich congenital muscular dystrophy 1B	Definitive	Autosomal dominant
Bethlem myopathy 1A	Strong	Autosomal dominant
Ullrich congenital muscular dystrophy 1A	Strong	Autosomal dominant
myosclerosis	Supportive	Autosomal recessive
Bethlem myopathy	Supportive	Autosomal dominant
Ullrich congenital muscular dystrophy	Supportive	Autosomal dominant

ClinGen Gene-Disease Validity (2)

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

Disease	Classification	Inheritance
collagen 6-related myopathy	Definitive	AD
collagen 6-related myopathy	Definitive	AR

Mondo (14): Bethlem myopathy 1A (MONDO:0024530), myosclerosis (MONDO:0009714), Bethlem myopathy 1B (MONDO:0958233), Ullrich congenital muscular dystrophy 1B (MONDO:0958235), Ullrich congenital muscular dystrophy 1A (MONDO:0009681), myopathy (MONDO:0005336), collagen 6-related myopathy (MONDO:0100225), Bethlem myopathy (MONDO:0008029), congenital myopathy (MONDO:0019952), limb-girdle muscular dystrophy (MONDO:0016971), muscular dystrophy (MONDO:0020121), congenital muscular dystrophy (MONDO:0019950), Charcot-Marie-Tooth disease (MONDO:0015626), Ullrich congenital muscular dystrophy (MONDO:0000355)

Orphanet (9): Bethlem muscular dystrophy (Orphanet:610), Myosclerosis (Orphanet:289380), Ullrich congenital muscular dystrophy (Orphanet:75840), Qualitative or quantitative defects of collagen 6 (Orphanet:207090), Congenital myopathy (Orphanet:97245), Limb-girdle muscular dystrophy (Orphanet:263), Muscular dystrophy (Orphanet:98473), Congenital muscular dystrophy (Orphanet:97242), Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy (Orphanet:166)

HPO phenotypes

96 total (30 of 96 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000174	Abnormal palate morphology
HP:0000218	High palate
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:0001249	Intellectual disability
HP:0001252	Hypotonia
HP:0001270	Motor delay
HP:0001288	Gait disturbance
HP:0001290	Generalized hypotonia
HP:0001324	Muscle weakness
HP:0001371	Flexion contracture
HP:0001382	Joint hypermobility
HP:0001558	Decreased fetal movement
HP:0001771	Achilles tendon contracture
HP:0002086	Abnormality of the respiratory system
HP:0002359	Frequent falls
HP:0002460	Distal muscle weakness
HP:0002515	Waddling gait
HP:0002650	Scoliosis

GWAS associations

10 associations (top):

Study	Trait	p-value
GCST005170_24	Intraocular pressure	8.000000e-09
GCST005667_43	Central corneal thickness	2.000000e-09
GCST008839_203	Height	2.000000e-09
GCST010002_78	Refractive error	2.000000e-36
GCST90000025_701	Appendicular lean mass	3.000000e-22
GCST90000654_72	Central corneal thickness	2.000000e-08
GCST90020025_1778	Waist-to-hip ratio adjusted for BMI	4.000000e-09
GCST90020027_397	Waist-hip index	2.000000e-09
GCST90020029_167	Waist circumference adjusted for body mass index	2.000000e-08
GCST90020029_168	Waist circumference adjusted for body mass index	1.000000e-08

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0004695	intraocular pressure measurement
EFO:0005213	central corneal thickness
EFO:0004980	appendicular lean mass
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0007789	BMI-adjusted waist circumference

MeSH disease descriptors (6)

Descriptor	Name	Tree numbers
D002607	Charcot-Marie-Tooth Disease	C10.500.300.200; C10.574.500.495.200; C10.668.829.800.300.200; C16.131.666.300.200; C16.320.400.375.200
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.)
C564968	Myosclerosis, Autosomal Recessive (supp.)
C537521	Scleroatonic muscular dystrophy (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)

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression, increases methylation, affects cotreatment	4
sodium arsenite	affects methylation, affects cotreatment, increases expression	3
Cadmium Chloride	affects cotreatment, decreases expression, increases abundance, increases expression	3
Benzo(a)pyrene	affects methylation, decreases methylation, increases methylation	2
Estradiol	affects cotreatment, decreases expression, increases expression	2
bisphenol F	increases expression	1
peracetylated N-azidoacetylmannosamine	decreases expression	1
testosterone enanthate	affects expression	1
propionaldehyde	increases expression	1
bisphenol A	decreases expression	1
deoxynivalenol	decreases expression	1
lead acetate	affects cotreatment, increases expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
beta-lapachone	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
chromous chloride	affects cotreatment, increases expression	1
chromic oxide	affects cotreatment, increases expression	1
aflatoxin B2	increases methylation	1
CGP 52608	affects binding, increases reaction	1
enniatins	decreases expression	1
monomethylarsonous acid	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
clothianidin	increases expression	1
bisphenol B	increases expression	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
licochalcone B	increases expression	1
jinfukang	increases expression	1
(+)-JQ1 compound	decreases expression	1
bisphenol AF	increases expression	1

Cellosaurus cell lines

11 cell lines: 5 finite cell line, 5 transformed cell line, 1 induced pluripotent stem cell

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

Cellosaurus	Name	Category	Sex
CVCL_4T46	GM23308	Finite cell line	Female
CVCL_4T49	GM23681	Transformed cell line	Male
CVCL_4T52	GM23778	Finite cell line	Male
CVCL_4T53	GM23782	Transformed cell line	Male
CVCL_4T59	GM24224	Finite cell line	Male
CVCL_4T60	GM24231	Transformed cell line	Male
CVCL_4T61	GM24232	Transformed cell line	Female
CVCL_A9ZI	GM27913	Finite cell line	Female
CVCL_B0IE	GM28234	Finite cell line	Female
CVCL_B2UU	Abcam HEK293T COL6A2 KO	Transformed cell line	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
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)
NCT01882400	PHASE4	COMPLETED	Assessment of Response to Treatment of Osteoporosis With Oral Bisphosphonates in Patients With Muscular Dystrophy
NCT01422200	PHASE4	COMPLETED	Flu Vaccine Study in Neuromuscular Patients 2011
NCT01225614	PHASE3	UNKNOWN	Efficacy and Tolerance of Early Launching of Nocturnal Non Invasive
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
NCT01254019	PHASE3	COMPLETED	A Clinical Study to Assess the Efficacy and Safety of GSK2402968 in Subjects With Duchenne Muscular Dystrophy
NCT01480245	PHASE3	TERMINATED	Open Label Study of GSK2402968 in Subjects With Duchenne Muscular Dystrophy
NCT01803412	PHASE3	TERMINATED	A Study of the Safety, Tolerability & Efficacy of Long-term Administration of Drisapersen in US & Canadian Subjects
NCT01826487	PHASE3	COMPLETED	Phase 3 Study of Ataluren in Participants With Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD)
NCT01890798	PHASE3	WITHDRAWN	Drisapersen Duchenne Muscular Dystrophy (DMD) Treatment Protocol
NCT02090959	PHASE3	TERMINATED	An Extension Study of Ataluren (PTC124) in Participants With Nonsense Mutation Dystrophinopathy
NCT02432885	PHASE3	COMPLETED	Myocardial Fibrosis Progression in Duchenne and Becker Muscular Dystrophy - ACE Inhibitor Therapy Trial
NCT03179631	PHASE3	COMPLETED	Long-Term Outcomes of Ataluren in Duchenne Muscular Dystrophy
NCT05126758	PHASE3	ACTIVE_NOT_RECRUITING	A Study of Deramiocel (CAP-1002) in Ambulatory and Non-Ambulatory Patients With Duchenne Muscular Dystrophy
NCT07587242	PHASE3	NOT_YET_RECRUITING	A Phase 3 Study to Evaluate the Safety and Efficacy of AOC 1044 (Also Referred to as Delpacibart Zotadirsen) in Participants With DMD With Gene Mutations Amenable to Exon 44 Skipping
NCT07608432	PHASE3	RECRUITING	Efficacy, Safety, and Tolerability of Zeleciment Rostudirsen (DYNE-251) Administered Intravenously Every 4 Weeks in Ambulatory Participants With Duchenne Muscular Dystrophy (FORZETTO)
NCT04762758	PHASE3	UNKNOWN	Phase III Trial Assessing the Efficacy and Safety of PXT3003 in CMT1A Patients
NCT01438788	PHASE2	COMPLETED	Low Protein Diet in Patients With Collagen VI Related Myopathies
NCT04054375	PHASE2	COMPLETED	Weekly Steroids in Muscular Dystrophy
NCT01153932	PHASE2	COMPLETED	Phase II Doubleblind Exploratory Study of GSK2402968 in Ambulant Subjects With Duchenne Muscular Dystrophy
NCT01462292	PHASE2	COMPLETED	A Clinical Study to Assess Two Doses of GSK2402968 in Subjects With Duchenne Muscular Dystrophy (DMD)
NCT01910649	PHASE2	TERMINATED	A Phase I/II, Open Label, Escalating Dose, Pilot Study to Assess Effect, Safety, Tolerability and PK of Multiple SC Doses of Drisapersen in Patients With Duchenne Muscular Dystrophy and to Assess the Potential for IV Dosing as an Alternative Route of Administration
NCT03406780	PHASE2	COMPLETED	A Study of CAP-1002 in Ambulatory and Non-Ambulatory Patients With Duchenne Muscular Dystrophy
NCT05479981	PHASE2	COMPLETED	Extension of AOC 1001-CS1 (MARINA) Study in Adult Myotonic Dystrophy Type 1 (DM1) Patients
NCT06290713	PHASE2	RECRUITING	Vasodilator and Exercise Study for DMD (VASO-REx)
NCT06547216	PHASE2	ACTIVE_NOT_RECRUITING	Phase 2 Open-label Extension Study of AOC 1020 in Participants With Facioscapulohumeral Muscular Dystrophy (FSHD)
NCT07287189	PHASE2	RECRUITING	Phase 2 Study of SAT-3247 in Pediatric Ambulatory Patients
NCT00271635	PHASE2	COMPLETED	Ascorbic Acid Treatment in CMT1A Trial (AATIC)
NCT01401257	PHASE2	COMPLETED	Phase II, Randomized, Placebo-controlled Trial in Patients With Charcot-marie-tooth Disease Type 1A
NCT02561702	PHASE2	COMPLETED	Mexiletine for Muscle Cramps in Charcot Marie Tooth Disease
NCT02967679	PHASE2	COMPLETED	SERENDEM : MD1003 in Patients Suffering From Demyelinating Neuropathies, an Open Label Pilot Study
NCT03124459	PHASE2	TERMINATED	Study of ACE-083 in Patients With Charcot-Marie-Tooth Disease
NCT03254199	PHASE2	TERMINATED	A Study to Assess the Safety and Effectiveness of FLX-787 in Subjects With Charcot-Marie-Tooth Disease Experiencing Muscle Cramps.
NCT03943290	PHASE2	TERMINATED	Extension Study to Evaluate the Long-Term Effects of ACE-083 in Patients With Facioscapulohumeral Muscular Dystrophy (FSHD) and Charcot-Marie Tooth (CMT) Disease Types 1 and X (CMT1 and CMTX)
NCT05777226	PHASE2	UNKNOWN	Research of SORD-CMT Natural History and Epalrestat Treatment
NCT06482437	PHASE2	COMPLETED	Safety and Efficacy of NMD670 in Adult Patients With Type 1 and Type 2 Charcot-Marie-Tooth Disease
NCT00278564	PHASE1	TERMINATED	Stem Cell Transplantation in Idiopathic Inflammatory Myopathy Diseases
NCT00873782	PHASE1	COMPLETED	Safety Study of Transvenous Limb Perfusion in Human Muscular Dystrophy