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Aliases for COL6A2 Gene

Aliases for COL6A2 Gene

  • Collagen, Type VI, Alpha 2 2 3
  • Human MRNA For Collagen VI Alpha-2 C-Terminal Globular Domain 3
  • Collagen VI, Alpha-2 Polypeptide 3
  • Collagen Alpha-2(VI) Chain 3
  • PP3610 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 myosclerosis, congenital and myosclerosis. Among its related pathways are PI3K-Akt signaling pathway and Signaling by FGFR. GO annotations related to this gene include extracellular matrix structural constituent and protein binding, bridging. An important paralog of this gene is SCARA3.

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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for COL6A2 Gene

Start:
46,098,097 bp from pter
End:
46,132,849 bp from pter
Size:
34,753 bases
Orientation:
Plus strand

Genomic View for COL6A2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    P12110-CO6A2_HUMAN
    Recommended name:
    Collagen alpha-2(VI) chain
    Protein Accession:
    P12110
    Secondary Accessions:
    • Q13909
    • Q13910
    • Q13911
    • Q14048
    • Q14049
    • Q16259
    • Q16597
    • Q6P0Q1
    • Q9UML3
    • Q9Y4S8

    Protein attributes for COL6A2 Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

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 Asn140, Asn327, Asn630, Asn785, Asn897, and Asn954
  • Modification sites at PhosphoSitePlus

Other Protein References for COL6A2 Gene

Antibody Products

No data available for DME Specific Peptides for COL6A2 Gene

Domains for COL6A2 Gene

Gene Families for COL6A2 Gene

HGNC:

Suggested Antigen Peptide Sequences for COL6A2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P12110

UniProtKB/Swiss-Prot:

CO6A2_HUMAN :
  • P12110
Domain:
  • Contains 3 VWFA domains.
Family:
  • 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

Gene Ontology (GO) - Molecular Function for COL6A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12812986
genes like me logo Genes that share ontologies with COL6A2: view

Animal Model Products

CRISPR Products

miRNA for COL6A2 Gene

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting 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

COMPARTMENTS
Jensen Localization Image for COL6A2 Gene COMPARTMENTS Subcellular localization image for COL6A2 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 4
plasma membrane 2
cytosol 1
lysosome 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for COL6A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005581 collagen trimer IEA --
GO:0005615 extracellular space IDA 20551380
GO:0005788 endoplasmic reticulum lumen TAS --
genes like me logo Genes that share ontologies with COL6A2: view

Pathways for COL6A2 Gene

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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • Extracellular Matrix & Adhesion Molecules in human,mouse,rat

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:0009749 response to glucose IEA --
GO:0022617 extracellular matrix disassembly TAS --
GO:0030198 extracellular matrix organization TAS --
genes like me logo Genes that share ontologies with COL6A2: view

Compounds for COL6A2 Gene

(1) Novoseek inferred chemical compound relationships for COL6A2 Gene

Compound -log(P) Hits PubMed IDs
cysteine 16.5 1
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:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for COL6A2

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for COL6A2

Flow Cytometry Products

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 ^
SP1:
SP2:
SP3:
SP4:
SP5: - -
SP6:
SP7:
SP8: -

ExUns: 26a · 26b ^ 27
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for COL6A2 Gene

GeneLoc Exon Structure for
COL6A2
ECgene alternative splicing isoforms for
COL6A2

Expression for COL6A2 Gene

mRNA expression in normal human tissues for COL6A2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression 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 expressions with COL6A2: view

In Situ Assay 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
chimpanzee
(Pan troglodytes)
Mammalia COL6A2 35
  • 98.95 (n)
  • 99.71 (a)
COL6A2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia COL6A2 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia -- 36
  • 83 (a)
OneToMany
-- 36
  • 91 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Col6a2 35
  • 85.38 (n)
  • 91.07 (a)
Col6a2 16
Col6a2 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia COL6A2 36
  • 77 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Col6a2 35
  • 85.51 (n)
  • 90.97 (a)
chicken
(Gallus gallus)
Aves COL6A2 35
  • 69.9 (n)
  • 72.11 (a)
COL6A2 36
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COL6A2 36
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100145523 35
  • 63.25 (n)
  • 64.55 (a)
Str.15727 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2562 35
zebrafish
(Danio rerio)
Actinopterygii col6a2 35
  • 62.08 (n)
  • 62.15 (a)
col6a2 36
  • 61 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea mec-5 36
  • 40 (a)
OneToMany
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

ENSEMBL:
Gene Tree for COL6A2 (if available)
TreeFam:
Gene Tree for COL6A2 (if available)

Paralogs for COL6A2 Gene

Paralogs for COL6A2 Gene

Selected 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 MAF
rs559 -- 46,129,655(-) CCAGC(A/G)TGGGA intron-variant, utr-variant-3-prime
rs6652 Benign 46,132,471(+) GACCG(C/T)GCCGC reference, synonymous-codon
rs7717 -- 46,129,596(+) GAATC(C/G)GGGTC intron-variant, utr-variant-3-prime
rs743503 -- 46,120,659(+) TGGCC(A/G)GGACT intron-variant
rs743504 -- 46,120,811(+) TAGGG(A/G)ACCCA intron-variant

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

Relevant External Links for COL6A2 Gene

HapMap Linkage Disequilibrium report
COL6A2
Human Gene Mutation Database (HGMD)
COL6A2
Locus Specific Mutation Databases (LSDB)
COL6A2

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

Disorders for COL6A2 Gene

(3) OMIM Diseases for COL6A2 Gene (120240)

UniProtKB/Swiss-Prot

CO6A2_HUMAN
  • Bethlem myopathy (BM) [MIM:158810]: A benign autosomal dominant 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.
  • Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]: UCMD is 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.
  • 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.

(2) University of Copenhagen DISEASES for COL6A2 Gene

(6) Novoseek inferred disease relationships for COL6A2 Gene

Disease -log(P) Hits PubMed IDs
ullrich congenital muscular dystrophy 98.4 16
bethlem myopathy 97.2 10
contracture 73.2 3
muscular dystrophies 70.2 1
myopathy 60.5 3

Relevant External Links for COL6A2

GeneTests
COL6A2
GeneReviews
COL6A2
Genetic Association Database (GAD)
COL6A2
Human Genome Epidemiology (HuGE) Navigator
COL6A2
genes like me logo Genes that share disorders with COL6A2: view

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
  2. Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy. (PMID: 15689448) Lampe A.K. … Weiss R.B. (J. Med. Genet. 2005) 4 23
  3. Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI. (PMID: 11381124) Camacho Vanegas O. … Pepe G. (Proc. Natl. Acad. Sci. U.S.A. 2001) 3 23
  4. Effects on collagen VI mRNA stability and microfibrillar assembly of three COL6A2 mutations in two families with Ullrich congenital muscular dystrophy. (PMID: 12218063) Zhang R.Z. … Chu M.L. (J. Biol. Chem. 2002) 3 23
  5. Ullrich disease: collagen VI deficiency: EM suggests a new basis for muscular weakness. (PMID: 12297580) Ishikawa H. … Nonaka I. (Neurology 2002) 3 23

Products for COL6A2 Gene

Sources for COL6A2 Gene

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