COL4A4 collagen type IV alpha 4 chain
Gene ID: 1286, updated on 16-Apr-2024Gene type: protein coding
Also known as: BFH; ATS2; BFH1; CA44
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- Go to complete Gene record for COL4A4
- Go to Variation Viewer for COL4A4 variants
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]
Associated conditions
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Description | Tests |
---|---|
Alport syndrome MedGen: C1567741GeneReviews: Not available | See labs |
Autosomal recessive Alport syndrome | See labs |
Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. GeneReviews: Not available | |
Hematuria, benign familial, 1 | not available |
Genomic context
- Location:
- 2q36.3
- Sequence:
- Chromosome: 2; NC_000002.12 (226967360..227164488, complement)
- Total number of exons:
- 57
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for COL4A4 variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- COL4A4 homepage - Collagen, type IV, alpha 4
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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