SPMAP2L

Chr 4

sperm microtubule associated protein 2 like

Also known as: THEGL

NCBI Gene: 100506564ENSG00000249693UniProt: P0DJG4

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.21
LOEUF
—
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.21LOEUF
pLI 0.000
Z-score 0.90
OE 0.77 (0.51–1.21)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
1.21Z-score
OE missense 0.78 (0.69–0.88)
179 obs / 230.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.77 (0.51–1.21)
0≤0.351.4
Missense OE?0.78 (0.69–0.88)
0≤0.61.4
Synonymous OE?0.66
0≤1.21.6
LoF obs/exp: 14 / 18.2Missense obs/exp: 179 / 230.9Syn Z: 2.44

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SPMAP2L · 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