COL4A5 collagen type IV alpha 5 chain
Gene ID: 1287, updated on 16-Apr-2024Gene type: protein coding
Also known as: ATS; ASLN; ATS1; CA54
- See all available tests in GTR for this gene
- Go to complete Gene record for COL4A5
- Go to Variation Viewer for COL4A5 variants
Summary
This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Mutations in this gene are associated with X-linked Alport syndrome, also known as hereditary nephritis. 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. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Aug 2010]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Alport syndrome MedGen: C1567741GeneReviews: Not available | See labs |
| X-linked Alport syndrome | See labs |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2020-09-08) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2020-09-08) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- Xq22.3
- Sequence:
- Chromosome: X; NC_000023.11 (108439838..108697545)
- Total number of exons:
- 57
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for COL4A5 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- COL4A5 homepage - Collagen, type IV, alpha 5
- 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
- The Alport syndrome COL4A5 variant database
- Variation ViewerRelated Variants
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