help  | about  | cite  | software

Gene : COL4A3 Homo sapiens
Name  ? collagen type IV alpha 3 chain Cytological Location  2q36.3
Brief Description  collagen type IV alpha 3 chain
Description  Type IV collagen, the major structural component of basement membranes, is a multimeric protein composed of 3 alpha subunits. These subunits are encoded by 6 different genes, alpha 1 through alpha 6, each of which can form a triple helix structure with 2 other subunits to form type IV collagen. This gene encodes alpha 3. In the Goodpasture syndrome, autoantibodies bind to the collagen molecules in the basement membranes of alveoli and glomeruli. The epitopes that elicit these autoantibodies are localized largely to the non-collagenous C-terminal domain of the protein. A specific kinase phosphorylates amino acids in this same C-terminal region and the expression of this kinase is upregulated during pathogenesis. This gene is also linked to an autosomal recessive form of Alport syndrome. The mutations contributing to this syndrome are also located within the exons that encode this C-terminal region. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. [provided by RefSeq, Jun 2010]
  • synonyms:
  • NM_000091,
  • collagen, type IV, alpha 3 (Goodpasture antigen),
  • uc002vom.2,
  • OTTHUMG00000149891,
  • tumstatin,
  • COL4A3,
  • ATS3,
  • ATS2,
  • HGNC:2204
  • identifiers:
  • 1285,
  • ENSG00000169031,
  • COL4A3

Genome feature

Region: gene ? Length: 150204  
Location: 2:227164589-227314792 Cyto location: 2q36.3


Paste the following link

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

21 Pathways

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

3 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

21 Pathways

3740 SNPs

5 Cross References

19 Data Sets

3 Homologues

0 Located Features

97 Rna Seq Results





Funding: InterMine has been developed principally through support of the Wellcome Trust. Complementary projects have been funded by the NIH/NHGRI and the BBSRC.

An ELIXIR-UK resource

© 2002 - 2019 Department of Genetics, University of Cambridge, Downing Street,
Cambridge CB2 3EH, United Kingdom