SYCP2L

Chr 6

synaptonemal complex protein 2 like

Also known as: C6orf177, NO145, POF24, dJ62D2.1

NCBI Gene: 221711ENSG00000153157UniProt: Q5T4T6

Predicted to act upstream of or within negative regulation of programmed cell death. Located in condensed chromosome, centromeric region and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtPremature ovarian failure 24
0
Active trials
1
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.00
LOEUF
DN
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?
1.00LOEUF
pLI 0.000
Z-score 1.56
OE 0.77 (0.60–1.00)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.90Z-score
OE missense 0.87 (0.80–0.95)
357 obs / 408.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.77 (0.60–1.00)
0≤0.351.4
Missense OE?0.87 (0.80–0.95)
0≤0.61.4
Synonymous OE?0.97
0≤1.21.6
LoF obs/exp: 42 / 54.4Missense obs/exp: 357 / 408.1Syn Z: 0.29

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SYCP2L · 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