COL4A4
Gene Information
- Official Symbol: COL4A4
- Official Name: collagen type IV alpha 4 chain
- Aliases and Previous Symbols: N/A
- Entrez ID: 1286
- UniProt: P53420
- Interactions: BioGRID
- PubMed articles: Open PubMed
- OMIM: Open OMIM
Function Summary
- Entrez Summary: This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. This particular collagen IV subunit, however, is only found in a subset of basement membranes. 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. Mutations in this gene are associated with type II autosomal recessive Alport syndrome (hereditary glomerulonephropathy) and with familial benign hematuria (thin basement membrane disease). Two transcripts, differing only in their transcription start sites, have been identified for this gene and, as is common for collagen genes, multiple polyadenylation sites are found in the 3' UTR. [provided by RefSeq, Jul 2008].
- UniProt Summary: Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen.
CRISPR Data
Essentiality in NALM6
- Essentiality Rank: 9476
- Expression level (log2 read counts): -0.48
COL4A4 Expression in NALM6 Cells: -0.48
