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Aliases for COL6A5 Gene

Aliases for COL6A5 Gene

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

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 Chain) is a Protein Coding gene. Diseases associated with COL6A5 include Ullrich Congenital Muscular Dystrophy 1 and Bethlem Myopathy 1. Among its related pathways are Collagen chain trimerization and Developmental Biology. An important paralog of this gene is COL6A6.

UniProtKB/Swiss-Prot for COL6A5 Gene

  • Collagen VI acts as a cell-binding protein.

Additional gene information for COL6A5 Gene

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

Genomics for COL6A5 Gene

GeneHancer (GH) Regulatory Elements for COL6A5 Gene

Promoters and enhancers for COL6A5 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J130395 Enhancer 0.5 ENCODE 4.8 +50.4 50410 1.7 OSR2 SMARCE1 JUND ESRRA RFX1 FOSL2 FOS COL6A5 PIR62051
GH03J130354 Enhancer 0.8 FANTOM5 Ensembl 0.4 +9.1 9120 0.7 MEIS2 PKNOX1 SMAD5 ZNF512 FOXP2 ATP2C1 COL6A5 PIR62051
GH03J130457 Enhancer 0.2 ENCODE 0.1 +112.2 112214 0.9 GC03M130467 PIR62051 COL6A5
GH03J130469 Enhancer 0.2 ENCODE 0.1 +124.7 124730 1.2 GC03M130467 COL6A6 COL6A5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around COL6A5 on UCSC Golden Path with GeneCards custom track

Genomic Locations for COL6A5 Gene

Genomic Locations for COL6A5 Gene
139,331 bases
Plus strand
139,330 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

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 posLast=25092509, Asn835, Asn260, and Asn201
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for COL6A5 Gene

Domains & Families for COL6A5 Gene

Gene Families for COL6A5 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

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



  • Belongs to the type VI collagen family.
  • 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 From GWAS Catalog for COL6A5 Gene

Gene Ontology (GO) - Molecular Function for COL6A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19478074
genes like me logo Genes that share ontologies with COL6A5: view
genes like me logo Genes that share phenotypes with COL6A5: view

Animal Model Products

CRISPR Products

miRNA for COL6A5 Gene

miRTarBase miRNAs that target COL6A5

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COL6A5

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
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:0005576 extracellular region IDA,TAS --
GO:0005581 collagen trimer IEA --
GO:0031012 colocalizes_with extracellular matrix ISS 22261194
genes like me logo Genes that share ontologies with COL6A5: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for COL6A5 Gene

Pathways & Interactions for COL6A5 Gene

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

Gene Ontology (GO) - Biological Process for COL6A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA --
GO:0030574 collagen catabolic process 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

(5) REFSEQ mRNAs :
(11) Additional mRNA sequences :
(9) Selected AceView cDNA sequences:
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for COL6A5 Gene

Collagen, type VI, alpha 5:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COL6A5

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 and MOPED for COL6A5 Gene

NURSA nuclear receptor signaling pathways regulating expression of COL6A5 Gene:


SOURCE GeneReport for Unigene cluster for COL6A5 Gene:


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).

Evidence on tissue expression from TISSUES for COL6A5 Gene

  • Lung(4.4)
  • Skin(4.3)
genes like me logo Genes that share expression patterns with COL6A5: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
(Pan troglodytes)
Mammalia COL6A5 34 33
  • 99.12 (n)
(Canis familiaris)
Mammalia COL6A5 34 33
  • 83.55 (n)
(Mus musculus)
Mammalia Col6a5 16 34 33
  • 78.89 (n)
(Rattus norvegicus)
Mammalia Col6a5 33
  • 77.67 (n)
(Bos Taurus)
Mammalia COL6A5 34
  • 74 (a)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 54 (a)
-- 34
  • 51 (a)
-- 34
  • 48 (a)
(Monodelphis domestica)
Mammalia COL6A5 34
  • 30 (a)
(Gallus gallus)
Aves -- 34
  • 33 (a)
(Anolis carolinensis)
Reptilia -- 34
  • 21 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia col6a6 33
  • 54.36 (n)
(Danio rerio)
Actinopterygii col6a6 34
  • 30 (a)
Species where no ortholog for COL6A5 was found in the sources mined by GeneCards:
  • 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)
Evolutionary constrained regions (ECRs) for COL6A5: view image

Paralogs for COL6A5 Gene

Paralogs for COL6A5 Gene

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

  • F8W8G8_HUMAN
  • H0Y393_HUMAN
  • H0Y935_HUMAN
  • H0Y9T2_HUMAN
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 Variation AA Info Type
rs73868680 benign, not specified 130,471,872(+) G/A/T coding_sequence_variant, genic_downstream_transcript_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs1000011069 -- 130,477,402(+) C/T genic_downstream_transcript_variant, intron_variant
rs1000030150 -- 130,459,395(+) G/A genic_downstream_transcript_variant, intron_variant
rs1000055271 -- 130,392,593(+) T/G intron_variant
rs1000058199 -- 130,452,890(+) A/G genic_downstream_transcript_variant, intron_variant

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

Variant ID Type Subtype PubMed ID
dgv301e215 CNV deletion 23714750
dgv8588n54 CNV loss 21841781
dgv8589n54 CNV loss 21841781
dgv8590n54 CNV loss 21841781
esv23758 CNV loss 19812545
esv2662769 CNV deletion 23128226
esv2665713 CNV deletion 23128226
esv3305478 CNV mobile element insertion 20981092
esv3376350 CNV insertion 20981092
esv34166 CNV loss 18971310
esv3597762 CNV loss 21293372
esv3597766 CNV loss 21293372
esv3597767 CNV loss 21293372
esv3597769 CNV loss 21293372
esv3597770 CNV loss 21293372
nsv1005410 CNV loss 25217958
nsv437854 CNV loss 16327808
nsv437881 CNV loss 16468122
nsv460854 CNV loss 19166990
nsv515803 CNV loss 19592680
nsv526814 CNV gain 19592680
nsv591719 CNV loss 21841781
nsv591722 CNV loss 21841781
nsv591723 CNV loss 21841781

Variation tolerance for COL6A5 Gene

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

Additional Variant Information for COL6A5 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for COL6A5 Gene

MalaCards: The human disease database

(3) MalaCards diseases for COL6A5 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
ullrich congenital muscular dystrophy 1
  • ucmd1
bethlem myopathy 1
  • bthlm1
  • 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.

Additional Disease Information for COL6A5

Genetic Association Database
Human Genome Epidemiology 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) Söderhäll C … Lee YA (PLoS biology 2007) 2 3 4 58
  2. The expanded collagen VI family: new chains and new questions. (PMID: 23869615) Fitzgerald J … Hansen U (Connective tissue research 2013) 2 3 58
  3. Three novel collagen VI chains with high homology to the alpha3 chain. (PMID: 18276594) Gara SK … Wagener R (The Journal of biological chemistry 2008) 3 4 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. COL6A5 variants in familial neuropathic chronic itch. (PMID: 28073787) Martinelli-Boneschi F … Lauria G (Brain : a journal of neurology 2017) 3 58

Products for COL6A5 Gene

Sources for COL6A5 Gene

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