FBN2 fibrillin 2
Gene ID: 2201, updated on 10-Dec-2024Gene type: protein coding
Also known as: CCA; DA9; EOMD
Summary
The protein encoded by this gene is a component of connective tissue microfibrils and may be involved in elastic fiber assembly. Mutations in this gene cause congenital contractural arachnodactyly. [provided by RefSeq, Jul 2008]
Associated conditions
| Description | Tests |
|---|---|
| A genome-wide meta-analysis of association studies of Cloninger's Temperament Scales. GeneReviews: Not available | |
| A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus. GeneReviews: Not available | |
| Common body mass index-associated variants confer risk of extreme obesity. GeneReviews: Not available | |
| Congenital contractural arachnodactyly | not available |
| Genome-wide meta-analysis identifies new susceptibility loci for migraine. GeneReviews: Not available | |
| Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry. GeneReviews: Not available | |
| Macular degeneration, early-onset | not available |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency No evidence available (Last evaluated 2024-02-28) ClinGen Genome Curation PageTriplosensitivity No evidence available (Last evaluated 2024-02-28) ClinGen Genome Curation Page |
Genomic context
- Location:
- 5q23.3
- Sequence:
- Chromosome: 5; NC_000005.10 (128257909..128538245, complement)
- Total number of exons:
- 65
Variation
| Resource | Links for this gene |
|---|---|
| SNP | Variation Viewer for FBN2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
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