help  | about  | cite  | software

Gene : COL8A1 Homo sapiens

Name  ? collagen type VIII alpha 1 chain Cytological Location  3q12.1
Brief Description  collagen type VIII alpha 1 chain
Description  This gene encodes one of the two alpha chains of type VIII collagen. The gene product is a short chain collagen and a major component of the basement membrane of the corneal endothelium. The type VIII collagen fibril can be either a homo- or a heterotrimer. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Dec 2011]
  • synonyms:
  • AF170702,
  • MGC9568,
  • C3orf7,
  • HGNC:2215,
  • uc003dtg.3,
  • NM_001850,
  • chromosome 3 open reading frame 7,
  • OTTHUMG00000148669,
  • C3orf7,
  • collagen, type VIII, alpha 1,
  • COL8A1
  • identifiers:
  • 1295,
  • ENSG00000144810,
  • COL8A1

Genome feature

Region: gene ? Length: 160624  
Location: 3:99638594-99799217 Cyto location: 3q12.1


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

3753 SN Ps

5 Cross References

17 Data Sets

7 Homologues

0 Located Features

97 Rna Seq Results