ELFN2
Chr 22extracellular leucine rich repeat and fibronectin type III domain containing 2
Also known as: LRRC62, PPP1R29
Predicted to enable protein phosphatase inhibitor activity. Predicted to be involved in synaptic membrane adhesion. Predicted to act upstream of or within chemical synaptic transmission; establishment of protein localization; and gene expression. Located in extracellular space. [provided by Alliance of Genome Resources, Jul 2025]
Some data sources returned errors (1)
gnomad: Error: gnomAD API error: 502
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
149 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 16 | 0 | 16 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 120 | 3 | 0 | 123 |
Likely Benign | 0 | 2 | 0 | 1 | 3 |
Benign | 0 | 2 | 0 | 0 | 2 |
Conflicting | — | 1 | |||
| Total | 0 | 124 | 20 | 1 | 146 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ELFN2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
OMIM — Genotype-Phenotype Relationships
1 OMIM entry
External Resources
Links to major genomics databases and tools
Variant Interpretation
Population Databases
Gene Resources
Expert Curation
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools