Gene: MFF-DT

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: COL4A3

Alternate names for this Gene: ATS2|ATS3

Gene Summary: Type IV collagen, the major structural component of basement membranes, is a multimeric protein composed of 3 alpha subunits. These subunits are encoded by 6 different genes, alpha 1 through alpha 6, each of which can form a triple helix structure with 2 other subunits to form type IV collagen. This gene encodes alpha 3. 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. 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 is located in Chromosome: 2

Location in Chromosome : 2q36.3

Description of this Gene: collagen type IV alpha 3 chain

Type of Gene: protein-coding

rs121912827 in MFF-DT;COL4A3 gene and ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE PMID 25307543 2015 Collagen type IV-related nephropathies in Portugal: pathogenic COL4A3 and COL4A4 mutations and clinical characterization of 25 families.

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

PMID 9195222 1997 The clinical spectrum of type IV collagen mutations.

PMID 11134255 2001 Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome.

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

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

PMID 11044206 2000 Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation.

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

PMID 25575550 2015 Evidence of digenic inheritance in Alport syndrome.

PMID 25514610 2014 Frequency of COL4A3/COL4A4 mutations amongst families segregating glomerular microscopic hematuria and evidence for activation of the unfolded protein response. Focal and segmental glomerulosclerosis is a frequent development during ageing.

PMID 28117080 2017 Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management.

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

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

PMID 7780062 1995 Autosomal recessive Alport syndrome: mutation in the COL4A3 gene in a woman with Alport syndrome and posttransplant antiglomerular basement membrane nephritis.

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

PMID 12028435 2002 COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome.

PMID 18436078 2008 Novel COL4A3 mutations in African American siblings with autosomal recessive Alport syndrome.

PMID 27627812 2016 X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations.

PMID 24033287 2014 Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases.

PMID 26346198 2016 Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis.

rs1363680371 in MFF-DT;COL4A3 gene and ALPORT SYNDROME 3, AUTOSOMAL DOMINANT PMID 9195222 1997 The clinical spectrum of type IV collagen mutations.

rs200287952 in MFF-DT;COL4A3 gene and Hematuria PMID 30476138 2019 Sequence variants associating with urinary biomarkers.

rs121912827 in MFF-DT;COL4A3 gene and Hematuria, Benign Familial PMID 11961012 2002 Mutations in theCOL4A4 and COL4A3 genes cause familial benign hematuria.

PMID 9195222 1997 The clinical spectrum of type IV collagen mutations.

rs4073904 in MFF-DT;COL4A3 gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs59257065 in MFF-DT;COL4A3 gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.