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Gene : COL3A1 Homo sapiens

Name  ? collagen type III alpha 1 chain Cytological Location  2q32.2
Brief Description  collagen type III alpha 1 chain
description  This gene encodes the pro-alpha1 chains of type III collagen, a fibrillar collagen that is found in extensible connective tissues such as skin, lung, uterus, intestine and the vascular system, frequently in association with type I collagen. Mutations in this gene are associated with Ehlers-Danlos syndrome types IV, and with aortic and arterial aneurysms. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]
  • synonyms:
  • PMGEDSV,
  • OTTHUMG00000132648,
  • EDS4A,
  • X15332,
  • NM_000090,
  • EDS4A,
  • HGNC:2201,
  • collagen, type III, alpha 1,
  • EDSVASC,
  • COL3A1,
  • uc002uqj.2,
  • Ehlers-Danlos syndrome type IV, autosomal dominant
  • identifiers:
  • 1281,
  • ENSG00000168542,
  • COL3A1

Genome feature

Region: gene ? Length: 38374  
Location: 2:188974373-189012746 Cyto location: 2q32.2


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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

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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Gene --> Orthologues

Interactions

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Gene --> Physical and Genetic Interactions

Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

56 SN Ps

5 Cross References

19 Data Sets

40 Homologues

0 Located Features

97 Rna Seq Results