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Gene : COL6A1 Homo sapiens

Name  ? collagen type VI alpha 1 chain Cytological Location  21q22.3
Brief Description  collagen type VI alpha 1 chain
Description  The collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues. Collagens are extracellular matrix proteins and have a triple-helical domain as their common structural element. Collagen VI is a major structural component of microfibrils. The basic structural unit of collagen VI is a heterotrimer of the alpha1(VI), alpha2(VI), and alpha3(VI) chains. The alpha2(VI) and alpha3(VI) chains are encoded by the COL6A2 and COL6A3 genes, respectively. The protein encoded by this gene is the alpha 1 subunit of type VI collagen (alpha1(VI) chain). Mutations in the genes that code for the collagen VI subunits result in the autosomal dominant disorder, Bethlem myopathy. [provided by RefSeq, Jul 2008]
  • synonyms:
  • UCHMD1,
  • BTHLM1,
  • HGNC:2211,
  • uc002zhu.2,
  • OPLL,
  • M20776,
  • collagen, type VI, alpha 1,
  • NM_001848,
  • OTTHUMG00000090440,
  • COL6A1
  • identifiers:
  • 1291,
  • ENSG00000142156,
  • COL6A1

Genome feature

Region: gene ? Length: 23279  
Location: 21:45981770-46005048 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

2 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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Gene --> Physical and Genetic Interactions

Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

3753 SN Ps

5 Cross References

20 Data Sets

2 Homologues

0 Located Features

97 Rna Seq Results