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Aliases for COL6A2 Gene

Aliases for COL6A2 Gene

  • Collagen Type VI Alpha 2 2 3
  • Collagen, Type VI, Alpha 2 2 3 5
  • Human MRNA For Collagen VI Alpha-2 C-Terminal Globular Domain 3
  • Collagen VI, Alpha-2 Polypeptide 3
  • BTHLM1 3
  • PP3610 3
  • UCMD1 3

External Ids for COL6A2 Gene

Previous GeneCards Identifiers for COL6A2 Gene

  • GC21P044024
  • GC21P046374
  • GC21P046342
  • GC21P047518
  • GC21P032899

Summaries for COL6A2 Gene

Entrez Gene Summary for COL6A2 Gene

  • This gene encodes one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The product of this gene contains several domains similar to von Willebrand Factor type A domains. 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 this gene are associated with Bethlem myopathy and Ullrich scleroatonic muscular dystrophy. Three transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for COL6A2 Gene

COL6A2 (Collagen Type VI Alpha 2) is a Protein Coding gene. Diseases associated with COL6A2 include Bethlem Myopathy 1 and Ullrich Congenital Muscular Dystrophy 1. Among its related pathways are ERK Signaling and Phospholipase-C Pathway. An important paralog of this gene is COL6A1.

UniProtKB/Swiss-Prot for COL6A2 Gene

  • Collagen VI acts as a cell-binding protein.

Gene Wiki entry for COL6A2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COL6A2 Gene

Genomics for COL6A2 Gene

Regulatory Elements for COL6A2 Gene

Enhancers for COL6A2 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 COL6A2 on UCSC Golden Path with GeneCards custom track

Genomic Location for COL6A2 Gene

46,097,606 bp from pter
46,132,849 bp from pter
35,244 bases
Plus strand

Genomic View for COL6A2 Gene

Genes around COL6A2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COL6A2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COL6A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COL6A2 Gene

Proteins for COL6A2 Gene

  • Protein details for COL6A2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Collagen alpha-2(VI) chain
    Protein Accession:
    Secondary Accessions:
    • Q13909
    • Q13910
    • Q13911
    • Q14048
    • Q14049
    • Q16259
    • Q16597
    • Q6P0Q1
    • Q9UML3
    • Q9Y4S8

    Protein attributes for COL6A2 Gene

    1019 amino acids
    Molecular mass:
    108579 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). Interacts with CSPG4.

    Alternative splice isoforms for COL6A2 Gene


neXtProt entry for COL6A2 Gene

Proteomics data for COL6A2 Gene at MOPED

Post-translational modifications for COL6A2 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 140, Asn 327, Asn 630, Asn 785, Asn 897, and Asn 954
  • Modification sites at PhosphoSitePlus

Other Protein References for COL6A2 Gene

No data available for DME Specific Peptides for COL6A2 Gene

Domains & Families for COL6A2 Gene

Gene Families for COL6A2 Gene

Suggested Antigen Peptide Sequences for COL6A2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Contains 3 VWFA domains.
  • Belongs to the type VI collagen family.
  • Contains 3 VWFA domains.
  • Belongs to the type VI collagen family.
genes like me logo Genes that share domains with COL6A2: view

Function for COL6A2 Gene

Molecular function for COL6A2 Gene

GENATLAS Biochemistry:
collagen type VI,alpha 2 (140kDa),microfibrillar
UniProtKB/Swiss-Prot Function:
Collagen VI acts as a cell-binding protein.
genes like me logo Genes that share phenotypes with COL6A2: view

Human Phenotype Ontology for COL6A2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for COL6A2 Gene

MGI Knock Outs for COL6A2:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for COL6A2 Gene

Localization for COL6A2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COL6A2 Gene

Secreted, extracellular space, extracellular matrix. Membrane; Peripheral membrane protein. Note=Recruited on membranes by CSPG4.

Subcellular locations from

Jensen Localization Image for COL6A2 Gene COMPARTMENTS Subcellular localization image for COL6A2 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 5
plasma membrane 3
cytosol 2
lysosome 1
mitochondrion 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for COL6A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0031012 colocalizes_with extracellular matrix ISS 22261194
GO:0042383 sarcolemma IEA --
GO:0043234 protein complex IPI 18400749
genes like me logo Genes that share ontologies with COL6A2: view

Pathways & Interactions for COL6A2 Gene

genes like me logo Genes that share pathways with COL6A2: view

Gene Ontology (GO) - Biological Process for COL6A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA --
GO:0007411 axon guidance TAS --
GO:0022617 extracellular matrix disassembly TAS --
genes like me logo Genes that share ontologies with COL6A2: view

No data available for SIGNOR curated interactions for COL6A2 Gene

Drugs & Compounds for COL6A2 Gene

(1) Drugs for COL6A2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with COL6A2: view

Transcripts for COL6A2 Gene

Unigene Clusters for COL6A2 Gene

Collagen, type VI, alpha 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for COL6A2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^
SP5: - -
SP8: -

ExUns: 26a · 26b ^ 27

Relevant External Links for COL6A2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for COL6A2 Gene

mRNA expression in normal human tissues for COL6A2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for COL6A2 Gene

This gene is overexpressed in Adipocyte (15.2), Urinary Bladder (9.7), Bone marrow mesenchymal stem cell (8.6), Colon muscle (8.5), and Gallbladder (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for COL6A2 Gene

SOURCE GeneReport for Unigene cluster for COL6A2 Gene Hs.420269

genes like me logo Genes that share expression patterns with COL6A2: view

Protein tissue co-expression partners for COL6A2 Gene

- Elite partner

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for COL6A2 Gene

Orthologs for COL6A2 Gene

This gene was present in the common ancestor of animals.

Orthologs for COL6A2 Gene

Organism Taxonomy Gene Similarity Type Details
(Mus musculus)
Mammalia Col6a2 35
  • 85.38 (n)
  • 91.07 (a)
Col6a2 16
Col6a2 36
  • 90 (a)
(Pan troglodytes)
Mammalia COL6A2 35
  • 98.95 (n)
  • 99.71 (a)
COL6A2 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Col6a2 35
  • 85.51 (n)
  • 90.97 (a)
(Bos Taurus)
Mammalia COL6A2 36
  • 90 (a)
(Canis familiaris)
Mammalia -- 36
  • 83 (a)
-- 36
  • 91 (a)
(Ornithorhynchus anatinus)
Mammalia COL6A2 36
  • 77 (a)
(Gallus gallus)
Aves COL6A2 35
  • 69.9 (n)
  • 72.11 (a)
COL6A2 36
  • 71 (a)
(Anolis carolinensis)
Reptilia COL6A2 36
  • 69 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100145523 35
  • 63.25 (n)
  • 64.55 (a)
Str.15727 35
(Danio rerio)
Actinopterygii col6a2 35
  • 62.08 (n)
  • 62.15 (a)
col6a2 36
  • 61 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2562 35
(Caenorhabditis elegans)
Secernentea mec-5 36
  • 40 (a)
Species with no ortholog for COL6A2:
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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)

Evolution for COL6A2 Gene

Gene Tree for COL6A2 (if available)
Gene Tree for COL6A2 (if available)

Paralogs for COL6A2 Gene

Paralogs for COL6A2 Gene

(14) SIMAP similar genes for COL6A2 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with COL6A2: view

Variants for COL6A2 Gene

Sequence variations from dbSNP and Humsavar for COL6A2 Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type
VAR_013589 Bethlem myopathy 1 (BTHLM1)
VAR_013590 Bethlem myopathy 1 (BTHLM1)
rs2839110 - 46,119,046(+) CAACA(A/G/T)TGGAG nc-transcript-variant, reference, missense
rs1042917 - 46,125,854(+) CGAAC(A/G/T)TATCG nc-transcript-variant, reference, missense
rs35881321 - 46,112,542(-) CTGGT(C/G/T)GATCT nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for COL6A2 Gene

Variant ID Type Subtype PubMed ID
nsv914079 CNV Loss 21882294
nsv509804 CNV Insertion 20534489
nsv470910 CNV Gain 18288195
dgv4809n71 CNV Loss 21882294
nsv525728 CNV Loss 19592680
nsv914099 CNV Loss 21882294
dgv4810n71 CNV Loss 21882294
dgv4811n71 CNV Loss 21882294
nsv914109 CNV Loss 21882294
dgv4812n71 CNV Loss 21882294
esv1003876 CNV Insertion 20482838
esv1216777 CNV Insertion 17803354
esv2723889 CNV Deletion 23290073
nsv187142 CNV Loss 16902084
esv1002133 CNV Deletion 20482838
nsv470911 CNV Loss 18288195
nsv914116 CNV Loss 21882294
nsv459311 CNV Loss 19166990
dgv4813n71 CNV Loss 21882294
esv995411 CNV Insertion 20482838
esv1546631 CNV Insertion 17803354
nsv187077 CNV Insertion 16902084
dgv255n21 CNV Gain 19592680
esv2723890 CNV Deletion 23290073
esv2723891 CNV Deletion 23290073
esv1007380 CNV Gain 20482838
dgv4814n71 CNV Loss 21882294
dgv4815n71 CNV Loss 21882294
nsv914124 CNV Loss 21882294

Variation tolerance for COL6A2 Gene

Residual Variation Intolerance Score: 89% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 15.65; 97.28% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for COL6A2 Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COL6A2 Gene

Disorders for COL6A2 Gene

MalaCards: The human disease database

(12) MalaCards diseases for COL6A2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
bethlem myopathy 1
  • bethlem myopathy
ullrich congenital muscular dystrophy 1
  • ullrich congenital muscular dystrophy
myosclerosis, congenital
  • myosclerosis, autosomal recessive
  • congenital myosclerosis, löwenthal type
dystonia 27
  • dyt27
- elite association - COSMIC cancer census association via MalaCards


  • Bethlem myopathy 1 (BTHLM1) [MIM:158810]: A benign proximal myopathy characterized by early childhood onset and joint contractures most frequently affecting the elbows and ankles. {ECO:0000269 PubMed:11865138, ECO:0000269 PubMed:15689448, ECO:0000269 PubMed:17886299, ECO:0000269 PubMed:8782832}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Myosclerosis autosomal recessive (MYOSAR) [MIM:255600]: A condition characterized by chronic inflammation of skeletal muscle with hyperplasia of the interstitial connective tissue. The clinical picture includes slender muscles with firm woody consistency and restriction of movement of many joints because of muscle contractures. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Ullrich congenital muscular dystrophy 1 (UCMD1) [MIM:254090]: A congenital myopathy characterized by muscle weakness and multiple joint contractures, generally noted at birth or early infancy. The clinical course is more severe than in Bethlem myopathy. {ECO:0000269 PubMed:15563506, ECO:0000269 PubMed:15689448}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for COL6A2

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 COL6A2: view

No data available for Genatlas for COL6A2 Gene

Publications for COL6A2 Gene

  1. Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. (PMID: 15563506) Baker N.L. … Lamande S.R. (Hum. Mol. Genet. 2005) 3 4 23 67
  2. Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies. (PMID: 20302629) Bovolenta M. … Gualandi F. (BMC Med. Genet. 2010) 3 23
  3. Identification and characterization of novel collagen VI non-canonical splicing mutations causing Ullrich congenital muscular dystrophy. (PMID: 19309692) Martoni E. … Gualandi F. (Hum. Mutat. 2009) 3 23
  4. Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance. (PMID: 18366090) Lampe A.K. … BAPnnemann C.G. (Hum. Mutat. 2008) 3 23
  5. Quantitative evaluation of collagen type VI and SOD gene expression in the nuchal skin of human fetuses with trisomy 21. (PMID: 17602442) Quarello E. … Delezoide A.L. (Prenat. Diagn. 2007) 3 23

Products for COL6A2 Gene

Sources for COL6A2 Gene