SPG11

Chr 15AR

SPG11 vesicle trafficking associated, spatacsin

Also known as: ALS5, CMT2X, KIAA1840

NCBI Gene: 80208ENSG00000104133UniProt: Q96JI7OMIM: 604360

The protein encoded by this gene is a potential transmembrane protein that is phosphorylated upon DNA damage. Defects in this gene are a cause of spastic paraplegia type 11 (SPG11). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]

OMIMResearchGenerating clinical summary…
LOFmechanismARLOEUF 0.814 OMIM phenotypes
Clinical Summary— SPG11
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Gene-Disease Validity (ClinGen)
hereditary spastic paraplegia 11 · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

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Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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Clinical Trials
3 active or recruiting trials — potential therapeutic options may be available
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.81LOEUF
pLI 0.000
Z-score 3.30
OE 0.67 (0.56–0.81)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-1.39Z-score
OE missense 1.11 (1.06–1.16)
1360 obs / 1223.0 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.67 (0.56–0.81)
0≤0.351.4
Missense OE?1.11 (1.06–1.16)
0≤0.61.4
Synonymous OE?1.13
0≤1.21.6
LoF obs/exp: 81 / 120.0Missense obs/exp: 1360 / 1223.0Syn Z: -2.17

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SPG11 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

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