SPATA31A5

Chr 9

SPATA31 subfamily A member 5

Also known as: FAM75A5

NCBI Gene: 727905 ENSG00000276581 UniProt: Q5VU36

The SPATA31A5 protein is predicted to be involved in cell differentiation and spermatogenesis and is located in cellular membranes. Currently, no established disease associations or inheritance patterns have been documented for mutations in this gene based on the available information.

ResearchSummary from RefSeq, UniProt

Predicted to be involved in cell differentiation and spermatogenesis. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

—

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in SPATA31A5?

gnomAD v4 · ~42k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 590

3 rare PASS variants

Rare truncating (LoF)

1 in 12,000

2 rare PASS variants

Rare synonymous (reference)

1 in 20,000

1 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for SPATA31A5. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 6 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~21k	1 in 480	none seen
South Asian	~8,699	≈ 1 in 7,400	none seen
African / African American	~8,683	≈ 1 in 1,800	≈ 1 in 2,100
East Asian	~3,499	≈ 1 in 1,200	none seen
Admixed American	~1,853	≈ 1 in 410	none seen
Ashkenazi Jewish	~1,134	≈ 1 in 1,100	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.

Exome coverage (gnomAD): 0 of 4 coding exons well covered in gnomAD exomes; exons 1, 2, 3, 4 poorly covered. Genomes: 0 of 4 (exons 1, 2, 3, 4 below).? see exons ↓