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Gene : COL5A3 Homo sapiens

Name  ? collagen type V alpha 3 chain Cytological Location  19p13.2
Brief Description  collagen type V alpha 3 chain
Description  This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are thought to be responsible for the symptoms of a subset of patients with Ehlers-Danlos syndrome type III. Messages of several sizes can be detected in northern blots but sequence information cannot confirm the identity of the shorter messages. [provided by RefSeq, Jul 2008]
  • synonyms:
  • uc002mmq.1,
  • collagen type V alpha 3,
  • NM_015719,
  • COL5A3,
  • AF177941,
  • HGNC:14864,
  • OTTHUMG00000150019
  • identifiers:
  • 50509,
  • ENSG00000080573,
  • COL5A3

Genome feature

Region: gene ? Length: 50972  
Location: 19:9959561-10010532 reverse strand Cyto location: 19p13.2


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Genomics

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Proteins

Gene --> Proteins.

SNPs

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Disease

0 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

778 SN Ps

5 Cross References

18 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results