SNX33

Chr 15

sorting nexin 33

Also known as: SH3PX3, SH3PXD3C, SNX30

NCBI Gene: 257364 ENSG00000173548 UniProt: Q8WV41 OMIM: 619107

The protein encoded by this gene is involved in cytoskeletal reorganization, vesicle trafficking, endocytosis, and mitosis. The encoded protein is essential for the creation of the cleavage furrow during mitosis and for completion of mitosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

Mechanism· predicted

Some data sources returned errors (1)

gnomad: Error: gnomAD API error: 400

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in SNX33?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 79

679 rare PASS variants

Rare truncating (LoF)

1 in 6,300

55 rare PASS variants

Rare synonymous (reference)

1 in 180

257 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for SNX33. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 120	1 in 7,700
South Asian	~43k	1 in 79	≈ 1 in 14,000
Remaining (unassigned)	~30k	1 in 94	1 in 4,200
European (Finnish)	~27k	1 in 730	≈ 1 in 8,800
Admixed American	~22k	1 in 77	1 in 3,100
African / African American	~21k	1 in 88	≈ 1 in 9,200
East Asian	~20k	1 in 93	1 in 4,000
Ashkenazi Jewish	~13k	1 in 390	≈ 1 in 12,000
Middle Eastern	~2,884	1 in 120	none seen

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.