SNX10

Chr 7

sorting nexin 10

Also known as: OPTB8

NCBI Gene: 29887ENSG00000086300UniProt: Q9Y5X0

This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members. This gene may play a role in regulating endosome homeostasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtOsteopetrosis, autosomal recessive 8

Clinical highlights

Gene-disease validity (ClinGen)
autosomal recessive osteopetrosis 8 · ARDefinitivesufficient evidence for diagnostic panels
0
Active trials
27
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.66
LOEUF
GOF
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?
1.66LOEUF
pLI 0.000
Z-score -0.25
OE 1.07 (0.71–1.66)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.55Z-score
OE missense 0.85 (0.72–1.01)
95 obs / 111.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.07 (0.71–1.66)
0≤0.351.4
Missense OE?0.85 (0.72–1.01)
0≤0.61.4
Synonymous OE?0.89
0≤1.21.6
LoF obs/exp: 14 / 13.0Missense obs/exp: 95 / 111.2Syn Z: 0.54

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SNX10 · 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