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Aliases for COL6A5 Gene

Aliases for COL6A5 Gene

  • Collagen Type VI Alpha 5 2 3
  • Collagen, Type VI, Alpha 5 2 3 5
  • Von Willebrand Factor A Domain-Containing Protein 4 3 4
  • Collagen, Type XXIX, Alpha 1 2 3
  • COL29A1 3 4
  • VWA4 3 4
  • Von Willebrand Factor A Domain Containing 4 2
  • Collagen Alpha-1(XXIX) Chain 4

External Ids for COL6A5 Gene

Previous HGNC Symbols for COL6A5 Gene

  • COL29A1

Previous GeneCards Identifiers for COL6A5 Gene

  • GC03P130065
  • GC03P127449

Summaries for COL6A5 Gene

Entrez Gene Summary for COL6A5 Gene

  • 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]

GeneCards Summary for COL6A5 Gene

COL6A5 (Collagen Type VI Alpha 5) is a Protein Coding gene. Diseases associated with COL6A5 include Ullrich Congenital Muscular Dystrophy 1 and Bethlem Myopathy 1. Among its related pathways are Developmental Biology and PI3K-Akt signaling pathway. An important paralog of this gene is MATN1.

UniProtKB/Swiss-Prot for COL6A5 Gene

  • Collagen VI acts as a cell-binding protein.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COL6A5 Gene

Genomics for COL6A5 Gene

Regulatory Elements for COL6A5 Gene

Enhancers for COL6A5 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around COL6A5 on UCSC Golden Path with GeneCards custom track

Promoters for COL6A5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around COL6A5 on UCSC Golden Path with GeneCards custom track

Genomic Location for COL6A5 Gene

130,345,516 bp from pter
130,484,846 bp from pter
139,331 bases
Plus strand

Genomic View for COL6A5 Gene

Genes around COL6A5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COL6A5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COL6A5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COL6A5 Gene

Proteins for COL6A5 Gene

  • Protein details for COL6A5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Collagen alpha-5(VI) chain
    Protein Accession:
    Secondary Accessions:
    • A9J6L2
    • A9J6L4
    • A9J6L6
    • A9J6L7
    • A9J6M0
    • A9J6M1
    • A9J6M2
    • B5MEA7
    • Q6ZW26
    • Q8NA36

    Protein attributes for COL6A5 Gene

    2615 amino acids
    Molecular mass:
    289926 Da
    Quaternary structure:
    • Trimers composed of three different chains: alpha-1(VI), alpha-2(VI), and alpha-3(VI) or alpha-5(VI) or alpha-6(VI).
    • Sequence=BAC04092.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAC04092.1; Type=Frameshift; Positions=2591; Evidence={ECO:0000305}; Sequence=BAC85681.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for COL6A5 Gene


neXtProt entry for COL6A5 Gene

Proteomics data for COL6A5 Gene at MOPED

Post-translational modifications for COL6A5 Gene

  • Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
  • Glycosylation at Asn 201, Asn 260, Asn 835, and Asn 2509
  • Modification sites at PhosphoSitePlus

Other Protein References for COL6A5 Gene

No data available for DME Specific Peptides for COL6A5 Gene

Domains & Families for COL6A5 Gene

Gene Families for COL6A5 Gene

Protein Domains for COL6A5 Gene


Suggested Antigen Peptide Sequences for COL6A5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Contains 6 collagen-like domains.
  • Belongs to the type VI collagen family.
  • Contains 6 collagen-like domains.
  • Contains 10 VWFA domains.
  • Belongs to the type VI collagen family.
genes like me logo Genes that share domains with COL6A5: view

Function for COL6A5 Gene

Molecular function for COL6A5 Gene

UniProtKB/Swiss-Prot Function:
Collagen VI acts as a cell-binding protein.

Phenotypes for COL6A5 Gene

genes like me logo Genes that share phenotypes with COL6A5: view

Animal Model Products

miRNA for COL6A5 Gene

miRTarBase miRNAs that target COL6A5

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for COL6A5 Gene

Localization for COL6A5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COL6A5 Gene

Secreted, extracellular space, extracellular matrix. Note=Deposed in the extracellular matrix of skeletal muscle. {ECO:0000250}.

Subcellular locations from

Jensen Localization Image for COL6A5 Gene COMPARTMENTS Subcellular localization image for COL6A5 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 3
plasma membrane 1

Gene Ontology (GO) - Cellular Components for COL6A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031012 colocalizes_with extracellular matrix ISS 22261194
genes like me logo Genes that share ontologies with COL6A5: view

Pathways & Interactions for COL6A5 Gene

genes like me logo Genes that share pathways with COL6A5: view

Interacting Proteins for COL6A5 Gene

Gene Ontology (GO) - Biological Process for COL6A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA --
GO:0022617 extracellular matrix disassembly TAS --
genes like me logo Genes that share ontologies with COL6A5: view

No data available for SIGNOR curated interactions for COL6A5 Gene

Drugs & Compounds for COL6A5 Gene

No Compound Related Data Available

Transcripts for COL6A5 Gene

mRNA/cDNA for COL6A5 Gene

Unigene Clusters for COL6A5 Gene

Collagen, type VI, alpha 5:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for COL6A5 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9
SP2: - -

Relevant External Links for COL6A5 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for COL6A5 Gene

mRNA expression in normal human tissues for COL6A5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for COL6A5 Gene

This gene is overexpressed in Lung (x24.1), Testis (x10.1), and Skin - Not Sun Exposed (Suprapubic) (x6.6).

Protein differential expression in normal tissues from HIPED for COL6A5 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (57.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for COL6A5 Gene

SOURCE GeneReport for Unigene cluster for COL6A5 Gene Hs.205403

mRNA Expression by UniProt/SwissProt for COL6A5 Gene

Tissue specificity: Expressed in skin, followed by lung, small intestine, colon and testis. In skin, it is expressed in the epidermis with strongest staining in suprabasal viable layers. In ATOD patients, it is absent in the most differentiated upper spinous and granular layers (at protein level).
genes like me logo Genes that share expression patterns with COL6A5: view

Primer Products

No data available for Protein tissue co-expression partners for COL6A5 Gene

Orthologs for COL6A5 Gene

This gene was present in the common ancestor of chordates.

Orthologs for COL6A5 Gene

Organism Taxonomy Gene Similarity Type Details
(Canis familiaris)
Mammalia COL6A5 35
  • 83.55 (n)
  • 75.73 (a)
COL6A5 36
  • 75 (a)
(Mus musculus)
Mammalia Col6a5 35
  • 78.89 (n)
  • 73.97 (a)
Col6a5 16
Col6a5 36
  • 73 (a)
(Pan troglodytes)
Mammalia COL6A5 35
  • 99.12 (n)
  • 98.61 (a)
COL6A5 36
  • 99 (a)
(Rattus norvegicus)
Mammalia Col6a5 35
  • 77.67 (n)
  • 71.99 (a)
(Bos Taurus)
Mammalia COL6A5 36
  • 74 (a)
(Monodelphis domestica)
Mammalia COL6A5 36
  • 30 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 51 (a)
-- 36
  • 48 (a)
-- 36
  • 54 (a)
(Gallus gallus)
Aves -- 36
  • 33 (a)
(Anolis carolinensis)
Reptilia -- 36
  • 21 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia col6a6 35
  • 54.36 (n)
  • 43.1 (a)
(Danio rerio)
Actinopterygii col6a6 36
  • 30 (a)
Species with no ortholog for COL6A5:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for COL6A5 Gene

Gene Tree for COL6A5 (if available)
Gene Tree for COL6A5 (if available)

Paralogs for COL6A5 Gene

(8) SIMAP similar genes for COL6A5 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with COL6A5: view

Variants for COL6A5 Gene

Sequence variations from dbSNP and Humsavar for COL6A5 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs9883988 - 130,443,551(+) TATTC(A/G)AAATG nc-transcript-variant, reference, missense
rs819085 - 130,455,490(-) CATTA(C/T)CTCCC nc-transcript-variant, reference, missense
rs1453241 - 130,384,866(-) TTTCT(C/T)CTGGA nc-transcript-variant, reference, missense
rs9882852 - 130,388,639(+) TAGGA(A/C)ATGAA nc-transcript-variant, reference, missense
rs16827168 - 130,389,132(+) TCTCC(A/G)TGGTA nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for COL6A5 Gene

Variant ID Type Subtype PubMed ID
nsv877494 CNV Gain 21882294
esv2665713 CNV Deletion 23128226
esv269755 CNV Insertion 20981092
esv34166 CNV Loss 18971310
nsv437854 CNV Loss 16327808
nsv515803 CNV Loss 19592680
nsv526814 CNV Gain 19592680
esv23758 CNV Loss 19812545
esv2662769 CNV Deletion 23128226
nsv437881 CNV Loss 16468122
dgv5258n71 CNV Loss 21882294
nsv460854 CNV Loss 19166990

Variation tolerance for COL6A5 Gene

Gene Damage Index Score: 24.99; 99.68% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for COL6A5 Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COL6A5 Gene

Disorders for COL6A5 Gene

MalaCards: The human disease database

(4) MalaCards diseases for COL6A5 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
ullrich congenital muscular dystrophy 1
  • ullrich congenital muscular dystrophy
bethlem myopathy 1
  • bethlem myopathy
atopic dermatitis
  • eczema
  • eczema
- elite association - COSMIC cancer census association via MalaCards


  • Note=Patients affected by atopic dermatitis display an abnormal distribution of COL29A1 mRNA and protein in skin suggesting that COL29A1 may be involved in the pathogenesis of the disease.

Relevant External Links for COL6A5

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with COL6A5: view

No data available for Genatlas for COL6A5 Gene

Publications for COL6A5 Gene

  1. Variants in a novel epidermal collagen gene (COL29A1) are associated with atopic dermatitis. (PMID: 17850181) Soederhaell C. … Lee Y.-A. (PLoS Biol. 2007) 2 3 4 67
  2. EMR-linked GWAS study: investigation of variation landscape of loci for body mass index in children. (PMID: 24348519) Namjou B. … Harley J.B. (Front Genet 2013) 3
  3. Expression of collagen VI I+5 and I+6 chains in human muscle and in Duchenne muscular dystrophy-related muscle fibrosis. (PMID: 22226732) Sabatelli P. … Wagener R. (Matrix Biol. 2012) 3
  4. Proteomics analysis of cardiac extracellular matrix remodeling in a porcine model of ischemia/reperfusion injury. (PMID: 22261194) Barallobre-Barreiro J. … Mayr M. (Circulation 2012) 3
  5. Expression of the collagen VI I+5 and I+6 chains in normal human skin and in skin of patients with collagen VI-related myopathies. (PMID: 20882040) Sabatelli P. … Wagener R. (J. Invest. Dermatol. 2011) 3

Products for COL6A5 Gene

Sources for COL6A5 Gene