Database of mammalian genes
Home

Home Search Browse Statistics User guide FAQs Links Questions Contribute Download


Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for COL4A4 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID1286
Official gene symbolCOL4A4
Full namecollagen, type IV, alpha 4
Aliases,CA44,
Gene summaryThis 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]
LocationChromosome: 2   Locus: 2q35-q37
Gene position228029275 - 227867427  Map Viewer
Gene orientationminus
Gene size161849 bp
Gene sequence
OMIM ID120131