PFN2

Chr 3

profilin 2

Also known as: D3S1319E, PFL

NCBI Gene: 5217ENSG00000070087UniProt: P35080OMIM: 176590

The protein encoded by this gene is a ubiquitous actin monomer-binding protein belonging to the profilin family. It is thought to regulate actin polymerization in response to extracellular signals. There are two alternatively spliced transcript variants encoding different isoforms described for this gene. [provided by RefSeq, Jul 2008]

OMIMResearchGenerating clinical summary…
LOEUF 0.90
Clinical Summary— PFN2
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Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.19) despite low pLI — interpret in context.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.90LOEUF
pLI 0.421
Z-score 1.72
OE 0.19 (0.07–0.90)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.97Z-score
OE missense 0.35 (0.26–0.49)
26 obs / 73.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.19 (0.07–0.90)
0≤0.351.4
Missense OE?0.35 (0.26–0.49)
0≤0.61.4
Synonymous OE?0.98
0≤1.21.6
LoF obs/exp: 1 / 5.3Missense obs/exp: 26 / 73.5Syn Z: 0.08

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PFN2 · 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.

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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