FLNB

Chr 3

filamin B

Also known as: ABP-278, ABP-280, FH1, FLN-B, FLN1L, LRS1, TABP, TAP

NCBI Gene: 2317ENSG00000136068UniProt: O75369

This gene encodes a member of the filamin family. The encoded protein interacts with glycoprotein Ib alpha as part of the process to repair vascular injuries. The platelet glycoprotein Ib complex includes glycoprotein Ib alpha, and it binds the actin cytoskeleton. Mutations in this gene have been found in several conditions: atelosteogenesis type 1 and type 3; boomerang dysplasia; autosomal dominant Larsen syndrome; and spondylocarpotarsal synostosis syndrome. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Nov 2009]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtAtelosteogenesis 1
UniProtAtelosteogenesis 3
UniProtBoomerang dysplasia
UniProtLarsen syndrome

Clinical highlights

Gene-disease validity (ClinGen)
FLNB-associated autosomal dominant filamin related bone disorder · ADDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Curated mechanisms (Gene2Phenotype) include both loss of function and gain of function. Which applies is variant-dependent — do not assume a null variant is, or isn’t, the pathogenic class without checking the specific variant.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
39
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.44
LOEUF
Multiple*
Mechanism· G2P
📖
GeneReview available — FLNB
Authoritative clinical overview · Recommended first read
Open GeneReview ↗
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.44LOEUF
pLI 0.000
Z-score 6.50
OE 0.34 (0.26–0.44)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
2.14Z-score
OE missense 0.85 (0.81–0.89)
1326 obs / 1564.2 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.34 (0.26–0.44)
0≤0.351.4
Missense OE?0.85 (0.81–0.89)
0≤0.61.4
Synonymous OE?1.01
0≤1.21.6
LoF obs/exp: 38 / 112.4Missense obs/exp: 1326 / 1564.2Syn Z: -0.13

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

FLNB · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

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