fibrillin 2
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
Arthrogryposis
BOTH monoallelic and biallelic, autosomal or pseudoautosomalDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownEhlers Danlos syndrome with a likely monogenic cause
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal anomalies
BOTH monoallelic and biallelic, autosomal or pseudoautosomalSkeletal dysplasia
BOTH monoallelic and biallelic, autosomal or pseudoautosomalThoracic aortic aneurysm or dissection
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedThoracic aortic aneurysm or dissection (GMS)
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknowncongenital contractural arachnodactyly
Abnormality of the skeletal system
hypertensive disorder
age-related macular degeneration
essential hypertension
familial thoracic aortic aneurysm and aortic dissection
coronary artery disorder
potassium deficiency disease
heart failure
atrial fibrillation
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Fibrillin-2
Fibrillins are structural components of 10-12 nm extracellular calcium-binding microfibrils, which occur either in association with elastin or in elastin-free bundles. Fibrillin-2-containing microfibrils regulate the early process of elastic fiber assembly. Regulates osteoblast maturation by controlling TGF-beta bioavailability and calibrating TGF-beta and BMP levels, respectively
Curated MONDO disease pages that list FBN2 among their top associated genes.
FBN2 · P35556-2isoform
No predicted structure exists for the canonical P35556 sequence; metrics below describe this isoform.
Mean pLDDT
68.4/ 100
Low
1,473 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
