Gene: COL4A4

Alternate names for this Gene: ATS2|BFH|CA44

Gene 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.

Gene is located in Chromosome: 2

Location in Chromosome : 2q36.3

Description of this Gene: collagen type IV alpha 4 chain

Type of Gene: protein-coding

rs121912858 in COL4A4 gene and ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE PMID 9792860 1998 Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome.

PMID 7987396 1994 Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome.

PMID 22166944 2012 Clinical utility gene card for: Alport syndrome.

PMID 26809805 2016 Identification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathy.

PMID 14582039 2003 Autosomal recessive Alport's syndrome and benign familial hematuria are collagen type IV diseases.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 28542346 2017 Novel mutations in COL4A3, COL4A4, and COL4A5 in Chinese patients with Alport Syndrome.

PMID 25596306 2014 COL4A3 mutations cause focal segmental glomerulosclerosis.

PMID 16338941 2006 Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families.

PMID 27281700 2016 Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome.

PMID 24633401 2014 Natural history of genetically proven autosomal recessive Alport syndrome.

PMID 12748344 2003 Novel COL4A4 splice defect and in-frame deletion in a large consanguine family as a genetic link between benign familial haematuria and autosomal Alport syndrome.

PMID 24052634 2013 COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome.

PMID 25755845 2014 COL4A4 gene study of a European population: description of new mutations causing autosomal dominant Alport syndrome.

PMID 12325029 2002 Three novel COL4A4 mutations resulting in stop codons and their clinical effects in autosomal recessive Alport syndrome.

PMID 26934356 2016 Efficient Targeted Next Generation Sequencing-Based Workflow for Differential Diagnosis of Alport-Related Disorders.

PMID 24854265 2014 Improving mutation screening in familial hematuric nephropathies through next generation sequencing.

PMID 17396119 2007 Sixteen novel mutations identified in COL4A3, COL4A4, and COL4A5 genes in Slovenian families with Alport syndrome and benign familial hematuria.

PMID 28632965 2017 Frequent COL4 mutations in familial microhematuria accompanied by later-onset Alport nephropathy due to focal segmental glomerulosclerosis.

PMID 25307543 2015 Collagen type IV-related nephropathies in Portugal: pathogenic COL4A3 and COL4A4 mutations and clinical characterization of 25 families.

PMID 19129241 2009 Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome.

PMID 15954103 2005 Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome.

rs35483183 in COL4A4 gene and Albuminuria PMID 30220432 2018 Genetic Association of Albuminuria with Cardiometabolic Disease and Blood Pressure.

rs59904869 in COL4A4 gene and Alzheimer's Disease PMID 26830138 2016 Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3.

rs10498218 in COL4A4 gene and Body mass index PMID 28270201 2017 Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants.

rs2272205 in COL4A4 gene and Cytokine Measurement PMID 22610502 2012 Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.

rs121912860 in COL4A4 gene and Hematuria, Benign Familial PMID 8787673 1996 Benign familial hematuria due to mutation of the type IV collagen alpha4 gene.

PMID 11961012 2002 Mutations in theCOL4A4 and COL4A3 genes cause familial benign hematuria.

PMID 12631110 2003 Mutations in the COL4A4 gene in thin basement membrane disease.

rs10182307 in COL4A4 gene and Systolic Pressure PMID 30578418 2019 Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.