2. Gene
  3. COL6A3 - collagen type VI alpha 3 chain Gene

COL6A3 - collagen type VI alpha 3 chain Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as DYT27; UCMD1; BTHLM1

Gene ID: 1293 | Gene type: protein coding

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 Reference 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

VWA: von Willebrand factor type A domain (39 - 211)

VWA

VWA: von Willebrand factor type A domain (242 - 414)

VWA

VWA: von Willebrand factor type A domain (445 - 609)

VWA

VWA: von Willebrand factor type A domain (639 - 806)

VWA

VWA: von Willebrand factor type A domain (837 - 990)

VWA

VWA: von Willebrand factor type A domain (1029 - 1193)

VWA

VWA: von Willebrand factor type A domain (1233 - 1403)

VWA

VWA: von Willebrand factor type A domain (1436 - 1608)

VWA

VWA: von Willebrand factor type A domain (1639 - 1811)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (2038 - 2095)

VWA

VWA: von Willebrand factor type A domain (2403 - 2573)

VWA

VWA: von Willebrand factor type A domain (2619 - 2805)

Kunitz_BPTI

Kunitz_BPTI: Kunitz/Bovine pancreatic trypsin inhibitor domain (3111 - 3162)

  • 0
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  • 3177 a.a.
Protein Preferred Names Protein Names

collagen alpha-3(VI) chain

collagen VI, alpha-3 polypeptide

Recombinant COL6A3 Proteins

Cat. No. Product Name Accession Purity
HY-P75684 COL6A3 Protein, Human (HEK293) P12111-1 (T3101-T3177) ≥95%
HY-P75685 COL6A3 Protein, Human (HEK293, His) P12111-1 (T3101-T3177) ≥95%

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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS02994 COL6A3 Human Pre-designed siRNA Set A Pre-designed Sets / 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