COL6A3 - collagen type VI alpha 3 chain Gene

Also Known as DYT27; UCMD1; BTHLM1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1293

About COL6A3

Cytogenetic location: 2q37.3 Genomic coordinates (GRCh38): 2:237,324,018-237,414,164 (from NCBI)

This gene has 20 transcripts (splice variants), 289 orthologues, 12 paralogues and is associated with 7 phenotypes. Broad expression in gall bladder (RPKM 140.2), endometrium (RPKM 95.0) and 16 other tissues.

Summary

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. [provided by RefSeq, Jun 2009]

COL6A3 Products (5)

mRNA	Protein	Name
NM_004369.4	NP_004360.2	collagen alpha-3(VI) chain isoform 1 precursor
NM_057164.5	NP_476505.3	collagen alpha-3(VI) chain isoform 2 precursor
NM_057165.5	NP_476506.3	collagen alpha-3(VI) chain isoform 3 precursor
NM_057166.5	NP_476507.3	collagen alpha-3(VI) chain isoform 4 precursor
NM_057167.4	NP_476508.2	collagen alpha-3(VI) chain isoform 5 precursor

Gene Ontology

Cellular Component

Cellular Component GO Annotation	Evidence	Références	Source
located in extracellular matrix	IDA IDA: Inferred from direct assay	18400749	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

COL6A3 Protein Structure

VWA

Collagen

VWA

Kunitz_BPTI

0
500
1000
1500
2000
2500
3000
3177 a.a.

Protein Preferred Names	Protein Names
collagen alpha-3(VI) chain	collagen VI, alpha-3 polypeptide

Recombinant COL6A3 Proteins

Cat. No.	Nom du produit	Accession	Pureté
HY-P75684	Endotrophin Protein, Human (HEK293)	P12111-1 (T3101-T3177)	≥ 95%, as determined by reducing SDS-PAGE.
HY-P75685	Endotrophin Protein, Human (HEK293, His)	P12111-1 (T3101-T3177)	≥ 95%, as determined by reducing SDS-PAGE.

COL6A3 Anticorps

Cat. No.	Nom du produit	Application	Reactivity
HY-P81048	Collagen VI A1+A2+A3 Antibody (YA893)	WB, ICC/IF, IHC-P	Human, Mouse, Rat
HY-P82892	Collagen VI A1+A2+A3 Antibody (YA2637)	WB, IHC-P, ICC/IF	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Dystonia 27	DYT27 Primary Dystonia, Dyt27 Type Dystonia, Type 27
Ullrich Congenital Muscular Dystrophy 1	Ullrich Congenital Muscular Dystrophy Ullrich Disease Ucmd Ullrich Scleroatonic Muscular Dystrophy Scleroatonic Muscular Dystrophy UCMD1 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 22 Lgmdr22 Muscular Dystrophy, Scleroatonic Late Onset Scleroatonic Familial Myopathy Congenital Muscular Dystrophy, Ullrich Type
Bethlem Myopathy 1	Bethlem Myopathy Myopathy, Benign Congenital, With Contractures Muscular Dystrophy, Benign Congenital BTHLM1 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 5 Lgmdd5 Benign Congenital Muscular Dystrophy Benign Autosomal Dominant Myopathy Myopathy, Bethlem Myopathy, Bethlem, Type 1
Myopathy	Muscular Diseases Myopathies
Isolated Dystonia	Pure Dystonia
Muscular Dystrophy	Muscular Dystrophies Congenital Md Congenital Muscular Dystrophy Cmd Mdc Dystrophy, Muscular Gower'S Muscular Dystrophy Progressive Musclular Dystrophy Pseudohypertrophic Atrophy Pseudohypertrophic Muscle Paralysis Pseudohypertrophic Muscular Atrophy Pseudohypertrophic Muscular Dystrophy Pseudohypertrophic Paralysis Pseudomuscular Hypertrophy
Malignant Giant Cell Tumor Of The Tendon Sheath	Giant Cell Tumour Of Tendon Sheath, Malignant Malignant Giant Cell Neoplasm Of The Tendon Sheath
Collagen Vi-Related Dystrophies	Col6-Rds Collagen 6-Related Myopathy Col6-Related Dystrophies Collagen Vi-Related Dystrophy Collagen Type Vi-Related Disorders Collagen Vi-Related Myopathies Collagen Vi-Related Myopathy Colvi Myopathies
Nodular Tenosynovitis	Synovioma, Benign Benign Synovioma Benign Tumor Of Synovium Localized Giant Cell Tumor Of Tenosynovium Giant Cell Tumor Of Tendon Sheath
Tenosynovial Giant Cell Tumor	Fibrous Histiocytoma Of Tendon Sheath Giant Cell Tumor Of Tendon Sheath Giant Cell Tumor Of Tenosynovium Giant Cell Tumour Of Tendon Sheath Giant Cell Tumour Of Tenosynovium Tenosynovial Giant Cell Tumour Diffuse-Type Gct Diffuse-Type Giant Cell Tumor Pigmented Villonodular Synovitis Tgct Tsgct
Pigmented Villonodular Synovitis	Diffuse Giant Cell Tumor Of Tenosynovium Villous Tenosynovitis Diffuse Pigmented Villonodular Synovitis Diffuse-Type Gct Diffuse-Type Giant Cell Tumor Localized Pigmented Villonodular Synovitis Tgct Tsgct Tenosynovial Giant Cell Tumor Tenosynovial Giant Cell Tumors Synovitis Pigmented Villonodular Synovitis, Pigmented Villonodular Fibrous Histiocytoma Of Tendon Sheath Testicular Germ Cell Tumor Chronic Haemorrhagic Villous Synovitis Pvns - [Pigmented Villonodular Synovitis] Villonodular Synovitis
Muscular Dystrophy, Congenital, Lmna-Related	Congenital Muscular Dystrophy Congenital Muscular Dystrophy Due To Lmna Mutation MDCL L-Cmd Lmna-Related Congenital Muscular Dystrophy Muscular Dystrophy, Congenital Congenital Muscular Dystrophy Lmna-Related Lmna-Related Cmd Cmd Mdc Muscular Dystrophy Congenital Lmna-Related Dystrophy, Muscular, Congenital, Lmna-Related Dystrophy, Muscular, Congenital Hereditary Muscular Dystrophy Congenital Hereditary Muscular Dystrophy Congenital Progressive Muscular Dystrophy Hereditary Progressive Muscular Dystrophy
Dystonia	Dystonic Disease Dystonic Disorder Dystonia Disorders Neuroleptic Dyskinesia
Dystonia 25	DYT25 Dystonia-25 Dystonia, Type 25
Torsion Dystonia 2	Dystonia 2, Torsion, Autosomal Recessive
Villonodular Synovitis	Pigmented Villonodular Synovitis
Congenital Muscular Dystrophy-Dystroglycanopathy Type A12	Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A12 Mddga12 Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease Pomk-Related
Bone Benign Neoplasm
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Lgmd2b Muscular Dystrophy, Limb-Girdle, Type 2b Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e Beta-Sarcoglycanopathy Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2y Muscular Dystrophy, Limb-Girdle, Type 3 Lgmd3 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2s LGMDR2 Muscular Dystrophy, Limb-Girdle, Type 2s Limb-Girdle Muscular Dystrophy Type 2b Lgmd2e Limb-Girdle Muscular Dystrophy Due To Beta-Sarcoglycan Deficiency Muscular Dystrophy, Limb-Girdle, Type 2e Lgmd2s Autosomal Recessive Muscular Dystrophy Due To Lap1b Deficiency Autosomal Recessive Muscular Dystrophy Due To Torsin-1a-Interacting Protein 1 Deficiency Lgmd2y Muscular Dystrophy With Progressive Weakness, Distal Contractures And Rigid Spine Muscular Dystrophy, Limb-Girdle, Type 2y Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b Dysferlin-Related Lgmd R2 Lgmd Due To Dysferlin Deficiency Lgmd Type 2b Limb-Girdle Muscular Dystrophy Due To Dysferlin Deficiency Limb-Girdle Muscular Dystrophy 2b Limb-Girdle Muscular Dystrophy, Type 2b Dystrophy, Muscular, Limb-Girdle, Autosomal Recessive, Type 2 Dystrophy, Muscular, Limb-Girdle, Type 2b Limb-Girdle Muscular Dystrophy, Type 2e
Adamantinous Craniopharyngioma	Adamantinous Rathke'S Pouch Tumor Craniopharyngioma, Adamantinomatous Adamantinomatous Craniopharyngioma
Rigid Spine Muscular Dystrophy 1	Rigid Spine Syndrome RSMD1 Rss Mdrs1 Eichsfeld Type Congenital Muscular Dystrophy Desmin-Related Myopathy With Mallory Bodies Classic Multiminicore Myopathy Sepn1-Related Myopathy Multicore Myopathy, Severe Classic Form Minicore Myopathy, Severe Classic Form Multiminicore Disease, Severe Classic Form Muscular Dystrophy, Rigid Spine, 1 Classic Mmd Classic Multiminicore Disease Congenital Merosin-Positive Muscular Dystrophy With Early Spine Rigidity Desmin-Related Myopathy With Mallory Body-Like Inclusions Early-Onset Desmin-Related Myopathy Myopathy, Sepn1-Related Muscular Dystrophy, Congenital, Merosin-Positive, With Early Spine Rigidity Muscular Dystrophy, Congenital, Eichsfeld Type Severe Classic Form Minicore Myopathy Severe Classic Form Multicore Myopathy Severe Classic Form Multiminicore Disease Desmin-Related Myopathies With Mallory Bodies Muscular Dystrophy, Congenital, Merosin Positive With Early Spine Rigidity Rigid Spine Muscular Dystrophy-1 Rigid Spine Congenital Muscular Dystrophy Congenital Muscular Dystrophy Eichsfeld Type Congenital Muscular Dystrophy Merosin-Positive With Early Spine Rigidity Minicore Myopathy Severe Classic Form Multicore Myopathy Severe Classic Form Multiminicore Disease Severe Classic Form Dystrophy, Muscular, Rigid Spine, Type 1
Osteogenesis Imperfecta, Type Iv	Osteogenesis Imperfecta Type 4 Osteogenesis Imperfecta Type Iv OI4 Oi, Type Iv Osteogenesis Imperfecta With Normal Sclerae Oi Type Iv Oi Type 4 Osteogenesis Imperfecta With Normal Sclera Common Variable Oi With Normal Sclerae Osteogenesis Imperfecta 4 Oi-Iv
Walker-Warburg Syndrome	Hard Syndrome Walker-Warburg Congenital Muscular Dystrophy Cerebroocular Dysplasia-Muscular Dystrophy Syndrome Cod-Md Syndrome Chemke Syndrome Hydrocephalus, Agyria And Retinal Dysplasia Cerebroocular Dysgenesis Cerebroocular Dysplasia Muscular Dystrophy Syndrome Hard +/- E Syndrome Pagon Syndrome Warburg Syndrome Hydrocephalus, Agyria, And Retinal Dysplasia Mddga Muscular Dystrophy-Dystroglycanopathy , Type A Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A Hydrocephalus-Agyria-Retinal Dysplasia Syndrome Wws Dystrophy, Muscular, Dystroglycanopathy, Type A
Autosomal Recessive Limb-Girdle Muscular Dystrophy	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS02994	COL6A3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18560	Col6a3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25042	Col6a3 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	COL6A3	VGNC	VGNC:27572
Mus musculus	COL6A3	MGD	MGI:88461
Felis catus	COL6A3	VGNC	VGNC:61068
Rattus norvegicus	COL6A3	RGD	RGD:1308704
Canis familiaris	COL6A3	VGNC	VGNC:39481
Macaca mulatta	COL6A3	VGNC	VGNC:71303
Others	COL6A3	NCBI