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Gene : COL4A3 Homo sapiens

Name  ? collagen type IV alpha 3 chain Cytological Location  2q36.3
Brief Description  collagen type IV alpha 3 chain
Description  Type IV collagen, the major structural component of basement membranes, is a multimeric protein composed of 3 alpha subunits. These subunits are encoded by 6 different genes, alpha 1 through alpha 6, each of which can form a triple helix structure with 2 other subunits to form type IV collagen. This gene encodes alpha 3. In the Goodpasture syndrome, autoantibodies bind to the collagen molecules in the basement membranes of alveoli and glomeruli. The epitopes that elicit these autoantibodies are localized largely to the non-collagenous C-terminal domain of the protein. A specific kinase phosphorylates amino acids in this same C-terminal region and the expression of this kinase is upregulated during pathogenesis. This gene is also linked to an autosomal recessive form of Alport syndrome. The mutations contributing to this syndrome are also located within the exons that encode this C-terminal region. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. [provided by RefSeq, Jun 2010]
  • synonyms:
  • ATS3,
  • ATS2,
  • HGNC:2204,
  • uc002vom.2,
  • collagen, type IV, alpha 3 (Goodpasture antigen),
  • NM_000091,
  • tumstatin,
  • OTTHUMG00000149891,
  • COL4A3
  • identifiers:
  • 1285,
  • ENSG00000169031,
  • COL4A3

Genome feature

Region: gene ? Length: 150204  
Location: 2:227164589-227314792 Cyto location: 2q36.3


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Mouse Gene --> Allele [Phenotype]

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Proteins

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SNPs

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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]

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Expression

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Other

3753 SN Ps

5 Cross References

19 Data Sets

3 Homologues

0 Located Features

97 Rna Seq Results