FLII

Chr 17

FLII actin remodeling protein

Also known as: CMD2J, FLI, FLIL, Fli1

This gene encodes a protein with a gelsolin-like actin binding domain and an N-terminal leucine-rich repeat-protein protein interaction domain. The protein is similar to a Drosophila protein involved in early embryogenesis and the structural organization of indirect flight muscle. The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCardiomyopathy, dilated, 2J

Clinical highlights

Gene-disease validity (ClinGen)
cardiomyopathy, dilated, 2j · ARModerateconsider for supplementary testing
0
Active trials
20
Pubs (1 yr)
P/LP submissions
P/LP missense
0.61
LOEUF
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.61LOEUF
pLI 0.000
Z-score 4.23
OE 0.45 (0.340.61)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.51Z-score
OE missense 0.95 (0.891.01)
753 obs / 793.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.45 (0.340.61)
00.351.4
Missense OE?0.95 (0.891.01)
00.61.4
Synonymous OE?1.14
01.21.6
LoF obs/exp: 31 / 68.9Missense obs/exp: 753 / 793.2Syn Z: -1.97

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

FLII · 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

No active trials found for this gene.

Search ClinicalTrials.gov →