Gene
FBN2
fibrillin 2
- HGNC 3604(opens in a new tab)
- Ensembl gene ENSG00000138829(opens in a new tab)
- NCBI Gene 2201(opens in a new tab)
Summary
- Cytogenetic location
- 5q23.3
- Coordinates
- Chromosome 5: 128,257,909–128,538,245 (GRCh38)
- Exons
- 65 exons across 280.3 kb
- Protein
- 2,912 amino acids
- Inheritance
- Autosomal dominant
- Also known as
- DA9
- Previous symbols
- CCA
- MANE Select transcript
- ENST00000262464.9NM_001999.4
- Locus type
- gene with protein product
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Read FBN2, and the rest of your genome, with one test.
From $449Free shipping · Results in 6–8 weeks
Get my Genome TestCurated report relevant to this gene
Marfan Like Syndromes
- Congenital Contractural ArachnodactylyAutosomal dominant
Congenital contractural arachnodactyly (CCA, Beals syndrome) is a connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia.
- ClinGen rates the link definitive
- 5 GenCC submitters rate it definitive or strong
Inheritance
- Autosomal dominant
- One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.
How FBN2 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 10.9 kb of the gene's 280.3 kb; 8,739 of those bases code for the protein.
How a genome test reads FBN2
93
positions in FBN2 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 280.3 kb of FBN2, introns included, not only the 10.9 kb of exons.
Traits linked to FBN2
The Human Phenotype Ontology lists these as features of the rare conditions FBN2 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the cardiovascular system
- Bulge in wall of root of large artery that carries blood away from heart
- Mitral valve prolapse
- Abnormal cardiovascular system morphology
- Bulge in wall of large artery that carries blood away from heart
- An opening in the wall separating the top two chambers of the heart
- Aortic valve has two leaflets rather than three
- Hole in heart wall separating two lower heart chambers
- Mitral regurgitation
Show 1 more trait
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). FBN2 gene: fibrillin 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/fbn2
Dante Labs. FBN2 gene: fibrillin 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/fbn2
One test. A lifetime of answers.
From $449Free shipping · Results in 6–8 weeks