SNX32

Chr 11

sorting nexin 32

Also known as: SNX6B

NCBI Gene: 254122 ENSG00000172803 UniProt: Q86XE0 OMIM: 621073

SNX32 encodes a sorting nexin protein that regulates endosomal trafficking of cargo proteins including transferrin receptor, mannose-6-phosphate receptor, and epidermal growth factor receptor, and plays an essential role in neurite outgrowth by controlling basigin trafficking to the cell surface. The gene shows very low constraint against loss-of-function variants (LOEUF 1.399), suggesting it may tolerate heterozygous inactivating mutations well. No definitive human disease associations have been established for SNX32 mutations.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable dynactin binding activity and phosphatidylinositol binding activity. Involved in endosome to lysosome transport via multivesicular body sorting pathway. Located in endosome; plasma membrane; and trans-Golgi network. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.40

LOEUF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.40LOEUF

pLI 0.000

Z-score -0.07

OE 1.01 (0.75–1.40)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.26Z-score

OE missense 1.04 (0.95–1.16)

275 obs / 263.2 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?1.01 (0.75–1.40)

0≤0.351.4

Missense OE?1.04 (0.95–1.16)

0≤0.61.4

Synonymous OE?1.28

0≤1.21.6

LoF obs/exp: 27 / 26.6Missense obs/exp: 275 / 263.2Syn Z: -2.36

Background carrier burden — how many people carry a rare variant somewhere in SNX32?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 110

621 rare PASS variants

Rare truncating (LoF)

1 in 550

157 rare PASS variants

Rare synonymous (reference)

1 in 170

278 rare PASS variants

Rare missense and truncating variants are carried at similar rates in SNX32; this gene does not show strong loss-of-function constraint by this measure. 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 150	1 in 700
South Asian	~43k	1 in 77	1 in 340
Remaining (unassigned)	~30k	1 in 82	1 in 380
European (Finnish)	~27k	1 in 240	1 in 2,600
Admixed American	~22k	1 in 89	1 in 640
African / African American	~21k	1 in 74	1 in 160
East Asian	~20k	1 in 69	1 in 460
Ashkenazi Jewish	~13k	1 in 360	1 in 590
Middle Eastern	~2,884	1 in 74	1 in 320

Each group is summed over the variants that are rare in that group. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 13 coding exons well covered in gnomAD exomes and genomes.? see exons ↓