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Gene : COL4A5 Homo sapiens

Name  ? collagen type IV alpha 5 chain Cytological Location  Xq22.3
Brief Description  collagen type IV alpha 5 chain
Description  This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Mutations in this gene are associated with X-linked Alport syndrome, also known as hereditary nephritis. 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. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Aug 2010]
  • synonyms:
  • ATS1,
  • COL4A5,
  • Alport syndrome,
  • CA54,
  • uc065aqj.1,
  • collagen type IV alpha 5,
  • HGNC:2207,
  • OTTHUMG00000022182,
  • ASLN,
  • M90464,
  • ASLN,
  • NM_000495,
  • ATS,
  • ATS,
  • collagen, type IV, alpha 5
  • identifiers:
  • 1287,
  • ENSG00000188153,
  • COL4A5

Genome feature

Region: gene ? Length: 257708  
Location: X:108439838-108697545 Cyto location: Xq22.3


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

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Genomics

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Proteins

Gene --> Proteins.

SNPs

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Disease

1 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

18 Data Sets

3 Homologues

0 Located Features

97 Rna Seq Results