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 functions in endosomal sorting, the phosphoinositide-signaling pathway, and macropinocytosis. This gene may play a role in the tumorigenesis of papillary thyroid carcinoma. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2013]

ResearchGenerating clinical summary…
0
Active trials
24
Pubs (1 yr)
P/LP submissions
P/LP missense
0.66
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.66LOEUF
pLI 0.001
Z-score 2.81
OE 0.38 (0.230.66)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.14Z-score
OE missense 0.97 (0.871.09)
204 obs / 209.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.38 (0.230.66)
00.351.4
Missense OE?0.97 (0.871.09)
00.61.4
Synonymous OE?1.08
01.21.6
LoF obs/exp: 9 / 23.8Missense obs/exp: 204 / 209.6Syn Z: -0.57

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

SNX5 · 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

No active trials found for this gene.

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