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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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FBN2
fibrillin 2
Chromosome 5 Β· 5q23.3
NCBI Gene: 2201Ensembl: ENSG00000138829.15HGNC: HGNC:3604UniProt: P35556
115PubMed Papers
22Diseases
0Drugs
126Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingextracellular matrixmicrofibrilcamera-type eye developmentcongenital contractural arachnodactylyage-related macular degenerationAbnormality of the skeletal systemhypertension
✦AI Summary

FBN2 (fibrillin 2) encodes a cysteine-rich glycoprotein that serves as a primary constituent of extracellular microfibrils 1. As a major structural component of the extracellular matrix, FBN2 is essential for tissue biomechanical properties and is hypothesized to guide elastogenesis, particularly in elastic fiber formation 1. FBN2 regulates elastin deposition by interacting directly with lysyl oxidase, and its expression is critical for elastic network synthesis in skin 2. The protein polymerizes extracellularly as parallel bundles of head-to-tail monomers, with calcium binding rigidifying monomeric and supramolecular structures 1. Mutations in FBN2 cause congenital contractular arachnodactyly (CCA), an autosomal dominant connective tissue disorder 1. Compound heterozygous mutations in both COL1A2 and FBN2 produce more severe skeletal abnormalities than single-gene mutations, suggesting synergistic effects on bone development 3. FBN2 genetic variants are associated with sports-related musculoskeletal injuries, including Achilles tendinopathy and anterior cruciate ligament ruptures 4. Genome-wide association studies identified FBN2 as a novel locus associated with Alzheimer's disease risk 5. De novo FBN2 variants have been identified in neurodevelopmental disorders with intellectual disability 6. These findings establish FBN2 as a critical extracellular matrix component with pleiotropic effects on skeletal, connective, and neurological health.

Sources cited
1
FBN2 is a cysteine-rich glycoprotein that is a main constituent of extracellular microfibrils; fibrillin-2 alterations cause congenital contractural arachnodactyly; FBN2 guides elastogenesis
PMID: 10216958
2
FBN2 expression regulates elastin deposition in skin; FBN2 interacts directly with lysyl oxidase and affects its maturation
PMID: 35163744
3
Compound mutations in COL1A2 and FBN2 produce more severe skeletal phenotypes than single-gene mutations, suggesting synergistic effects
PMID: 35804365
4
FBN2 gene variants are associated with Achilles tendinopathy and anterior cruciate ligament ruptures
PMID: 25429546
5
FBN2 is identified as a novel common locus associated with Alzheimer's disease in multi-ancestry GWAS
PMID: 39998322
6
De novo FBN2 variants are identified in neurodevelopmental syndromes with intellectual disability
PMID: 38114583
Disease Associationsβ“˜22
congenital contractural arachnodactylyOpen Targets
0.86Strong
age-related macular degenerationOpen Targets
0.69Moderate
Abnormality of the skeletal systemOpen Targets
0.63Moderate
hypertensionOpen Targets
0.58Moderate
essential hypertensionOpen Targets
0.54Moderate
familial thoracic aortic aneurysm and aortic dissectionOpen Targets
0.50Moderate
coronary artery diseaseOpen Targets
0.49Moderate
potassium deficiency diseaseOpen Targets
0.45Moderate
heart failureOpen Targets
0.44Moderate
atrial fibrillationOpen Targets
0.42Moderate
cardiovascular diseaseOpen Targets
0.41Moderate
Rare disease with thoracic aortic aneurysm and aortic dissectionOpen Targets
0.41Moderate
Increased blood pressureOpen Targets
0.40Moderate
neuroblastomaOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.37Weak
osteoarthritis, hipOpen Targets
0.37Weak
alcohol drinkingOpen Targets
0.37Weak
response to xenobiotic stimulusOpen Targets
0.36Weak
Abnormality of refractionOpen Targets
0.35Weak
osteoarthritis, kneeOpen Targets
0.34Weak
Contractural arachnodactyly, congenitalUniProt
Macular degeneration, early-onsetUniProt
Pathogenic Variants126
NM_001999.4(FBN2):c.3437A>G (p.Tyr1146Cys)Pathogenic
Congenital contractural arachnodactyly|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 1146
NM_001999.4(FBN2):c.3736T>C (p.Cys1246Arg)Pathogenic
Congenital contractural arachnodactyly|Familial thoracic aortic aneurysm and aortic dissection
β˜…β˜…β˜†β˜†2025β†’ Residue 1246
NM_001999.4(FBN2):c.4274G>A (p.Cys1425Tyr)Pathogenic
not provided|Familial thoracic aortic aneurysm and aortic dissection
β˜…β˜…β˜†β˜†2025β†’ Residue 1425
NM_001999.4(FBN2):c.3736T>G (p.Cys1246Gly)Pathogenic
Congenital contractural arachnodactyly|Familial thoracic aortic aneurysm and aortic dissection
β˜…β˜…β˜†β˜†2025β†’ Residue 1246
NM_001999.4(FBN2):c.3974-9A>GLikely pathogenic
Congenital contractural arachnodactyly
β˜…β˜…β˜†β˜†2025
NM_001999.4(FBN2):c.4340G>T (p.Cys1447Phe)Likely pathogenic
Familial thoracic aortic aneurysm and aortic dissection|Congenital contractural arachnodactyly
β˜…β˜…β˜†β˜†2025β†’ Residue 1447
NM_001999.4(FBN2):c.3466T>C (p.Cys1156Arg)Pathogenic
Congenital contractural arachnodactyly|Familial thoracic aortic aneurysm and aortic dissection
β˜…β˜…β˜†β˜†2024β†’ Residue 1156
NM_001999.4(FBN2):c.3803G>C (p.Cys1268Ser)Pathogenic
Congenital contractural arachnodactyly|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 1268
NM_001999.4(FBN2):c.3424T>G (p.Cys1142Gly)Pathogenic
Macular degeneration, early-onset;Congenital contractural arachnodactyly|Congenital contractural arachnodactyly
β˜…β˜…β˜†β˜†2023β†’ Residue 1142
NM_001999.4(FBN2):c.3472+1G>ALikely pathogenic
Congenital contractural arachnodactyly|FBN2-related disorder
β˜…β˜…β˜†β˜†2023
NM_001999.4(FBN2):c.3472+2T>CPathogenic
Congenital contractural arachnodactyly|not provided
β˜…β˜…β˜†β˜†2023
NM_001999.4(FBN2):c.4222+5G>APathogenic
not provided|Congenital contractural arachnodactyly
β˜…β˜…β˜†β˜†2022
NM_001999.4(FBN2):c.3719G>A (p.Cys1240Tyr)Likely pathogenic
Congenital contractural arachnodactyly|Familial thoracic aortic aneurysm and aortic dissection
β˜…β˜…β˜†β˜†2021β†’ Residue 1240
NM_001999.4(FBN2):c.3467G>T (p.Cys1156Phe)Pathogenic
Congenital contractural arachnodactyly
β˜…β˜…β˜†β˜†2020β†’ Residue 1156
NM_001999.4(FBN2):c.3482A>G (p.Glu1161Gly)Likely pathogenic
Congenital contractural arachnodactyly
β˜…β˜†β˜†β˜†2026β†’ Residue 1161
NM_001999.4(FBN2):c.4594+1delLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_001999.4(FBN2):c.3079T>C (p.Cys1027Arg)Likely pathogenic
Congenital contractural arachnodactyly
β˜…β˜†β˜†β˜†2025β†’ Residue 1027
NM_001999.4(FBN2):c.3758G>C (p.Cys1253Ser)Likely pathogenic
Congenital contractural arachnodactyly
β˜…β˜†β˜†β˜†2025β†’ Residue 1253
NM_001999.4(FBN2):c.3555C>A (p.Cys1185Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 1185
NM_001999.4(FBN2):c.6255del (p.Gly2086fs)Likely pathogenic
Congenital contractural arachnodactyly
β˜…β˜†β˜†β˜†2025β†’ Residue 2086
View on ClinVar β†—
Related Genes
ADAMTS10Protein interaction100%FN1Protein interaction96%ADAMTS17Protein interaction90%ADAMTSL5Protein interaction77%MYH3Protein interaction75%ELNProtein interaction75%
Tissue Expression6 tissues
Heart
100%
Bone Marrow
82%
Ovary
7%
Brain
6%
Lung
5%
Liver
1%
Gene Interaction Network
Click a node to explore
FBN2ADAMTS10FN1ADAMTS17ADAMTSL5MYH3ELN
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt P35556
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.31Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.26 [0.22–0.31]
RankingsWhere FBN2 stands among ~20K protein-coding genes
  • #4,116of 20,598
    Most Researched115 Β· top quartile
  • #618of 5,498
    Most Pathogenic Variants126 Β· top quartile
  • #1,234of 17,882
    Most Constrained (LOEUF)0.31 Β· top 10%
Genes detectedFBN2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
The Molecular Genetics of Marfan Syndrome.
PMID: 34220303
Int J Med Sci Β· 2021
1.00
2
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis Β· 2022
0.90
3
Identification of 16 novel Alzheimer's disease loci using multi-ancestry meta-analyses.
PMID: 39998322
Alzheimers Dement Β· 2025
0.80
4
Carrying both COL1A2 and FBN2 gene heterozygous mutations results in a severe skeletal clinical phenotype: an affected family.
PMID: 35804365
BMC Med Genomics Β· 2022
0.70
5
The fibrillins.
PMID: 10216958
Int J Biochem Cell Biol Β· 1999
0.60