help  | about  | cite  | software

Gene : COL6A5 Homo sapiens

Name  ? collagen type VI alpha 5 chain Cytological Location  3q22.1
Brief Description  collagen type VI alpha 5 chain
Description  This gene encodes a member of the collagen superfamily of proteins. The encoded protein contains multiple von Willebrand factor A-like domains and may interact with the alpha 1 and alpha 2 chains of collagen VI to form the complete collagen VI trimer. Polymorphisms in this gene may be linked to dermal phenotypes, such as eczema. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
  • synonyms:
  • uc062ntv.1,
  • HGNC:26674,
  • collagen, type VI, alpha 5,
  • COL29A1,
  • COL29A1,
  • NM_153264,
  • VWA4,
  • AK093199,
  • collagen, type XXIX, alpha 1,
  • OTTHUMG00000159712,
  • von Willebrand factor A domain containing 4,
  • VWA4,
  • collagen type VI alpha 5,
  • COL6A5,
  • FLJ35880
  • identifiers:
  • 256076,
  • ENSG00000172752,
  • COL6A5

Genome feature

Region: gene ? Length: 139331  
Location: 3:130345516-130484846 Cyto location: 3q22.1


Uni Prot Comments Displayer

Protein Atlas Displayer

Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer

Function

Gene Ontology Displayer

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

J Browse Displayer

Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

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]

Homology

Homologue Displayer

Interactions

Cytoscape Network Displayer

Gene --> Physical and Genetic Interactions

Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

328 SN Ps

5 Cross References

15 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results