COL6A6 - collagen type VI alpha 6 chain Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 131873

About COL6A6

Cytogenetic location: 3q22.1 Genomic coordinates (GRCh38): 3:130,516,720-130,677,042 (from NCBI)

This gene has 3 transcripts (splice variants), 280 orthologues and 12 paralogues. Biased expression in lung (RPKM 3.3), fat (RPKM 0.9) and 7 other tissues.

Summary

This gene encodes a large protein that contains multiple von Willebrand factor domains and forms a component of the basal lamina of epithelial cells. This protein may regulate epithelial cell-fibronectin interactions. Variation in this gene may be implicated in skin diseases. [provided by RefSeq, May 2017]

COL6A6 Products (1)

mRNA Protein Name
NM_001102608.3 NP_001096078.1 collagen alpha-6(VI) chain precursor

Gene Ontology

  • Cellular Component
Cellular Component GO Annotation Evidence References 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

COL6A6 Protein Structure

VWA

VWA: von Willebrand factor type A domain (27 - 192)

VWA

VWA: von Willebrand factor type A domain (229 - 397)

VWA

VWA: von Willebrand factor type A domain (436 - 605)

VWA

VWA: von Willebrand factor type A domain (622 - 790)

VWA

VWA: von Willebrand factor type A domain (809 - 980)

VWA

VWA: von Willebrand factor type A domain (1000 - 1169)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (1392 - 1449)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (1579 - 1632)

VWA

VWA: von Willebrand factor type A domain (1758 - 1900)

VWA

VWA: von Willebrand factor type A domain (1967 - 2136)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 2000
  • 2263 a.a.
Protein Preferred Names Protein Names

collagen alpha-6(VI) chain

  • collagen, type VI, alpha 6

Related Diseases

Diseases Alias
Nail Disorder, Nonsyndromic Congenital, 8

  • Nonsyndromic Congenital Nail Disorder 8

  • Toenail Dystrophy, Isolated

  • NDNC8

  • Isolated Toenail Dystrophy

  • Nail Disorder, Non-Syndromic Congenital, 8

  • Isolated Toenail Dystrophy Without Skin Fragility

  • Nail Disorder, Nonsyndromic Congenital, Type 8
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
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
Retinitis Pigmentosa

  • RP

  • Rod-Cone Dystrophy

  • Autosomal Recessive Retinitis Pigmentosa

  • Non-Syndromic Retinitis Pigmentosa

  • Pericentral Pigmentary Retinopathy

  • Pigmentary Retinopathy

  • Tapetoretinal Degeneration

  • Rcd

  • Retinitis Pigmentosa Autosomal Recessive

  • ARRP

  • Retinitis Pigmentosa, Autosomal Recessive

  • Retinitis Pigmentosa 1
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 (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS02996 COL6A6 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Mus musculus COL6A6 MGD MGI:2444259
Felis catus COL6A6 VGNC VGNC:61069
Bos taurus COL6A6 VGNC VGNC:56214
Macaca mulatta COL6A6 VGNC VGNC:110374
Rattus norvegicus COL6A6 RGD RGD:1309172
Canis familiaris COL6A6 VGNC VGNC:49850
Others COL6A6 NCBI