| 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
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| Category | |
| UniGene |
Hs.407817
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| Reference Sequence |
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| OMIM and SNP |
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| Locus |
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| Summary | This 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 | |
| Expression | | EST (65 ESTs, 39 libraries) |
| Tissue | Breadth ? |
CPM ? |
| brain |  | | | cartilage | | | | eye | | | | germ cell | | | | kidney |  | | | lung | | | | lymph node | | | | muscle | | | | nervous | | | | parathyroid | | | | skin | | | | testis | | | | uncharacterized tissue | | | | vascular | | |
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| Evidence | Mutation in System Syndrom with Kidney Involvment
- van der Loop FT, Heidet L, Timmer ED, van den Bosch BJ, Leinonen A, Antignac C, Jefferson JA, Maxwell AP, Monnens LA, Schroder CH, Smeets HJ, van der Loop FT, Heidet L, Timmer ED, van den Bosch BJ, Leinonen A, Antignac C, Jefferson JA, Maxwell AP, Monnens LA, Schroder CH, Smeets HJ Autosomal dominant Alport syndrome caused by a COL4A3 splice sitemutation. Kidney Int 2000 Nov;58(5):1870-5.
- Jefferson JA, Lemmink HH, Hughes AE, Hill CM, Smeets HJ, Doherty CC, Maxwell AP, Jefferson JA, Lemmink HH, Hughes AE, Hill CM, Smeets HJ, Doherty CC, Maxwell AP Autosomal dominant Alport syndrome linked to the type IV collage alpha 3and alpha 4 genes (COL4A3 and COL4A4). Nephrol Dial Transplant 1997 Aug;12(8):1595-9.
- Knebelmann B, Forestier L, Drouot L, Quinones S, Chuet C, Benessy F, Saus J, Antignac C Splice-mediated insertion of an Alu sequence in the COL4A3 mRNA causingautosomal recessive Alport syndrome. Hum Mol Genet 1995 Apr;4(4):675-9.
- Ding J, Stitzel J, Berry P, Hawkins E, Kashtan CE, Ding J, Stitzel J, Berry P, Hawkins E, Kashtan CE, Ding J, Stitzel J, Berry P, Hawkins E, Kashtan CE Autosomal recessive Alport syndrome: mutation in the COL4A3 gene in awoman with Alport syndrome and posttransplant antiglomerular basementmembrane nephritis. J Am Soc Nephrol 1995 Mar;5(9):1714-7.
Other key publications related to this gene
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