FBLN5

Chr 14ADAR

fibulin 5

Also known as: ADCL2, ARCL1A, ARMD3, CMT1H, DANCE, EVEC, FIBL-5, HNARMD

NCBI Gene: 10516ENSG00000140092UniProt: Q9UBX5OMIM: 604580

This protein is essential for elastic fiber formation and promotes the assembly of elastin polymer while stabilizing elastic fibers in skin, lung, and vasculature. Mutations cause cutis laxa (both autosomal dominant and recessive forms), Charcot-Marie-Tooth disease type 1H, and age-related macular degeneration, affecting connective tissue, peripheral nerves, and retina. The gene is highly constrained against loss-of-function variants (pLI = 1.0, LOEUF = 0.17), indicating that complete loss of protein function is typically not tolerated.

OMIMResearchSummary from RefSeq, OMIM, UniProt
MultiplemechanismAD/ARLOEUF 0.174 OMIM phenotypes
Clinical Summary— FBLN5
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Gene-Disease Validity (ClinGen)
demyelinating hereditary motor and sensory neuropathy · ADModerate

Moderate evidence — consider for supplementary testing

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Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint
0.17LOEUF
pLI 1.000
Z-score 4.70
OE 0.04 (0.01–0.17)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
1.56Z-score
OE missense 0.73 (0.65–0.83)
199 obs / 271.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.04 (0.01–0.17)
0≤0.351.4
Missense OE0.73 (0.65–0.83)
0≤0.61.4
Synonymous OE0.95
0≤1.21.6
LoF obs/exp: 1 / 27.6Missense obs/exp: 199 / 271.1Syn Z: 0.42

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

FBLN5 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
KIF1Bβ suppresses hepatocellular carcinoma by transporting and secreting FBLN5 to attenuate the integrin pathway.
Gao C et al.·Gut
2026
Cranial Nerve Involvement With Diplopia as Presenting Feature of CMT1H Caused by Recurring FBLN5 Variant.
Koutsis G et al.·J Peripher Nerv Syst
2026Open Access
A combined computational and functional approach identifies FBLN5 as an amino acid metabolism-related gene and suppressing colorectal cancer progression.
Chen J et al.·Mol Genet Genomics
2026Functional
Strategic truncation improves recombinant expression of buffalo Fibulin-5 (FBLN5) in Escherichia coli.
Mahajan D et al.·Protein Expr Purif
2026
Protein interaction network drive more group integrated analytic larynx hub protein markers: LYVE1/FBLN5/INMT/DCN/ZFY/RSPO3 protein macromolecule collaborative diagnosis of a new era.
Gao Y et al.·Int J Biol Macromol
2025
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients