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Gene : COL5A2 Homo sapiens

Name  ? collagen type V alpha 2 chain Cytological Location  2q32.2
Brief Description  collagen type V alpha 2 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 associated with Ehlers-Danlos syndrome, types I and II. [provided by RefSeq, Jul 2008]
  • synonyms:
  • HGNC:2210,
  • NM_000393,
  • EDSCL2,
  • COL5A2,
  • AB collagen,
  • collagen, type V, alpha 2,
  • OTTHUMG00000149842,
  • EDSC,
  • Y14690,
  • uc002uqk.4
  • identifiers:
  • 1290,
  • ENSG00000204262,
  • COL5A2

Genome feature

Region: gene ? Length: 193404  
Location: 2:189031898-189225301 reverse strand Cyto location: 2q32.2


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

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]

Homology

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Interactions

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Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

3756 SN Ps

5 Cross References

19 Data Sets

42 Homologues

0 Located Features

97 Rna Seq Results