SAXO2

Chr 15

stabilizer of axonemal microtubules 2

Also known as: FAM154B

NCBI Gene: 283726 ENSG00000188659 UniProt: Q658L1 OMIM: 621602

The protein is predicted to bind microtubules and localize to the microtubule cytoskeleton, nucleus, and sperm flagellum. Currently, no human diseases have been definitively associated with SAXO2 mutations in published literature. The gene shows very low constraint against loss-of-function variants (pLI near 0), suggesting it may tolerate such changes in the general population.

OMIM ResearchSummary from RefSeq

Predicted to enable microtubule binding activity. Predicted to be active in microtubule cytoskeleton and sperm flagellum. [provided by Alliance of Genome Resources, Jun 2026]

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

Multiple*

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 SAXO2?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 49

554 rare PASS variants

Rare truncating (LoF)

1 in 300

79 rare PASS variants

Rare synonymous (reference)

1 in 290

175 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for SAXO2. 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 100	1 in 380
South Asian	~43k	1 in 90	1 in 410
Remaining (unassigned)	~30k	1 in 54	1 in 1,300
European (Finnish)	~27k	1 in 160	≈ 1 in 17,000
Admixed American	~22k	1 in 67	1 in 280
African / African American	~21k	1 in 83	1 in 790
East Asian	~20k	1 in 83	1 in 1,200
Ashkenazi Jewish	~13k	1 in 260	≈ 1 in 13,000
Middle Eastern	~2,884	1 in 68	≈ 1 in 2,100

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.

Exome coverage (gnomAD): 3 of 4 coding exons well covered in gnomAD exomes; exon 2 marginal. Genomes: all 4.? see exons ↓