LRFN2

Chr 6

leucine rich repeat and fibronectin type III domain containing 2

Also known as: FIGLER2, KIAA1246, SALM1

NCBI Gene: 57497ENSG00000156564UniProt: Q9ULH4

Predicted to be involved in modulation of chemical synaptic transmission and regulation of postsynapse organization. Located in plasma membrane. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…
0
Active trials
7
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.71
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.71LOEUF
pLI 0.014
Z-score 2.41
OE 0.36 (0.20–0.71)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.60Z-score
OE missense 0.80 (0.74–0.87)
406 obs / 507.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.36 (0.20–0.71)
0≤0.351.4
Missense OE?0.80 (0.74–0.87)
0≤0.61.4
Synonymous OE?1.09
0≤1.21.6
LoF obs/exp: 6 / 16.6Missense obs/exp: 406 / 507.7Syn Z: -1.02

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

LRFN2 · 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