COL4A4

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]

Description

Collagen type IV alpha 4 chain

Tissue specificity

Low tissue specificity

Predicted location

Secreted to extracellular matrix

Protein family

Cancer-related genes
Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Predicted secreted proteins
Protein evidence (Kim et al 2014)

Chromosome

2 (227002714 - 227164453)

Ensembl ID

ENSG00000081052  (ver. 103.38)

Orthologs

Mouse Col4a4: ENSMUSG00000067158

UniProt

P53420

neXtProt

NX_P53420

Human splice variants
Mouse splice variants

Protein structure