2. Gene
  3. COL6A5 - collagen type VI alpha 5 chain Gene

COL6A5 - collagen type VI alpha 5 chain Gene

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

Also known as VWA4; COL29A1

Gene ID: 256076 | Gene type: protein coding

About COL6A5

Cytogenetic location: 3q22.1 Genomic coordinates (GRCh38): 3:130,345,672-130,484,846 (from NCBI)

This gene has 4 transcripts (splice variants), 149 orthologues and 12 paralogues. Biased expression in skin (RPKM 1.9), lung (RPKM 1.6) and 8 other tissues.

Summary

This gene encodes a member of the collagen superfamily of proteins. The encoded protein contains multiple von Willebrand factor A-like domains and may interact with the alpha 1 and alpha 2 chains of collagen VI to form the complete collagen VI trimer. Polymorphisms in this gene may be linked to dermal phenotypes, such as eczema. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]

COL6A5 Products(3)

mRNA Protein Name
NM_001278298.2 NP_001265227.1 collagen alpha-5(VI) chain isoform 1 precursor
NM_001412157.1 NP_001399086.1 collagen alpha-5(VI) chain isoform 3 precursor
NM_153264.7 NP_694996.5 collagen alpha-5(VI) chain isoform 2 precursor

COL6A5 Protein Structure

VWA

VWA: von Willebrand factor type A domain (30 - 198)

VWA

VWA: von Willebrand factor type A domain (236 - 405)

VWA

VWA: von Willebrand factor type A domain (442 - 610)

VWA

VWA: von Willebrand factor type A domain (628 - 794)

VWA

VWA: von Willebrand factor type A domain (814 - 985)

VWA

VWA: von Willebrand factor type A domain (1005 - 1171)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (1395 - 1446)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (1434 - 1490)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (1464 - 1520)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (1524 - 1580)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (1579 - 1629)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (1674 - 1729)

VWA

VWA: von Willebrand factor type A domain (1759 - 1887)

VWA

VWA: von Willebrand factor type A domain (1963 - 2131)

VWA

VWA: von Willebrand factor type A domain (2291 - 2461)

  • 0
  • 500
  • 1000
  • 1500
  • 2000
  • 2615 a.a.
Protein Preferred Names Protein Names

collagen alpha-5(VI) chain

collagen, type VI, alpha 5

Related Diseases

Diseases Alias
Dermatitis

Eczema

Skin Inflammation

Inflammatory Dermatosis
Chiari Malformation
Neuropathy, Hereditary Sensory And Autonomic, Type Ic

HSAN1C

Hsan Ic

Hsn1c

Hsn Ic

Hereditary Sensory And Autonomic Neuropathy Type 1c

Neuropathy, Hereditary Sensory And Autonomic, Type 1c

Neuropathy, Hereditary Sensory, Type Ic

Hereditary Sensory And Autonomic Neuropathy Type Ic

Neuropathy, Hereditary Sensory And Autonomic, 1c

Hereditary Sensory Neuropathy Type Ic

Neuropathy, Hereditary Sensory/Autonomic, Type Ic

Neuropathy, Sensory And Autonomic, Hereditary, Type Ic
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
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
Chronic Dacryoadenitis
Epulis

Epulides

Gingival Polyp

Polyp Of Gum
Ehlers-Danlos Syndrome, Hypermobility Type

Ehlers-Danlos Syndrome, Type 3

Ehlers-Danlos Syndrome, Type Iii

EDSHMB

Eds Iii

Benign Hypermobility Syndrome

Ehlers-Danlos Syndrome Hypermobility Type

Eds3

Type Iii Ehlers-Danlos Syndrome

Ehlers-Danlos Syndrome Type 3

Es-D3
Corneal Dystrophy
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
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-RS02995 COL6A5 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Mus musculus COL6A5 MGD MGI:3648134
Bos taurus COL6A5 VGNC VGNC:109405
Canis familiaris COL6A5 VGNC VGNC:39482
Rattus norvegicus COL6A5 RGD RGD:1565804