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Gene : COL6A2 Homo sapiens

Name  ? collagen type VI alpha 2 chain Cytological Location  21q22.3
Brief Description  collagen type VI alpha 2 chain
Description  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]
  • synonyms:
  • PP3610,
  • OTTHUMG00000090489,
  • HGNC:2212,
  • NM_001849,
  • BTHLM1,
  • COL6A2,
  • UCMD1,
  • uc002zia.2,
  • collagen type VI alpha 2,
  • M20777
  • identifiers:
  • 1292,
  • ENSG00000142173,
  • COL6A2

Genome feature

Region: gene ? Length: 34779  
Location: 21:46098071-46132849 Cyto location: 21q22.3


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

3 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

558 SN Ps

5 Cross References

20 Data Sets

3 Homologues

0 Located Features

97 Rna Seq Results