Human Kidney Gene DataBase

Name collagen, type IV, alpha 3 (Goodpasture antigen)
Symbol COL4A3
Aliases TUMSTATIN; Goodpasture antigen; collagen IV, alpha-3 polypeptide
Gene Product
  • alpha 3 type IV collagen isoform 4, precursor
  • alpha 3 type IV collagen isoform 2, precursor
  • alpha 3 type IV collagen isoform 5, precursor
  • alpha 3 type IV collagen isoform 3, precursor
  • alpha 3 type IV collagen isoform 1, precursor
UniGene Hs.407817 
Reference Sequence
mRNA: NM_031366 Protein: NP_112734
LocusLink: 1285Chromosome: 2Cytoband: 2q36-q37 UCSC Genome Map Eesembl Genome Map
SummaryThis gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. 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. There are six alternate transcripts that appear to be unique to this human subunit gene and alternate splicing is restricted to the six exons that encode this domain. 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.
Gene Ontology
EST (65 ESTs, 39 libraries)
Tissue Breadth ? CPM ?
brainBreadth of expression: 5 out of  759 libraries express this gene (0.66%)Average CPM:19.36
cartilageBreadth of expression: 1 out of  16 libraries express this gene (6.25%)Average CPM:2.93
eyeBreadth of expression: 3 out of  24 libraries express this gene (12.50%)Average CPM:9.74
germ cellBreadth of expression: 1 out of  6 libraries express this gene (16.67%)Average CPM:14.47
kidneyBreadth of expression: 1 out of  145 libraries express this gene (0.69%)Average CPM:2.00
lungBreadth of expression: 5 out of  334 libraries express this gene (1.50%)Average CPM:0.84
lymph nodeBreadth of expression: 1 out of  22 libraries express this gene (4.55%)Average CPM:0.36
muscleBreadth of expression: 1 out of  83 libraries express this gene (1.20%)Average CPM:1.44
nervousBreadth of expression: 2 out of  21 libraries express this gene (9.52%)Average CPM:4.84
parathyroidBreadth of expression: 1 out of  2 libraries express this gene (50.00%)Average CPM:0.74
skinBreadth of expression: 1 out of  38 libraries express this gene (2.63%)Average CPM:0.72
testisBreadth of expression: 1 out of  180 libraries express this gene (0.56%)Average CPM:2.40
uncharacterized tissueBreadth of expression: 11 out of  1739 libraries express this gene (0.63%)Average CPM:3.19
vascularBreadth of expression: 1 out of  18 libraries express this gene (5.56%)Average CPM:2.99
EvidenceMutation in System Syndrom with Kidney Involvment

Other key publications related to this gene

© 2004, KGDB, All Rights Reserved.
Department of Urology
University of California, San Francisco