STARD10

Chr 11

StAR related lipid transfer domain containing 10

Also known as: CGI-52, NY-CO-28, PCTP2, SDCCAG28

NCBI Gene: 10809 ENSG00000214530 UniProt: Q9Y365 OMIM: 617382

The protein functions as a phospholipid transfer protein that selectively transports phosphatidylcholine and phosphatidylethanolamine between cellular membranes, with potential roles in sperm maturation and fertilization. No established Mendelian disease associations have been reported for this gene. The gene shows very low constraint against loss-of-function variants, suggesting such variants are likely tolerated in the general population.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable lipid carrier activity and phosphatidylcholine binding activity. Predicted to be involved in phosphatidylcholine biosynthetic process. Predicted to act upstream of or within bile acid secretion and positive regulation of peroxisome proliferator activated receptor signaling pathway. Located in cytosol. [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

GOF

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 STARD10?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 96

508 rare PASS variants

Rare truncating (LoF)

1 in 870

102 rare PASS variants

Rare synonymous (reference)

1 in 230

193 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for STARD10. 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 140	1 in 1,000
South Asian	~43k	1 in 130	1 in 1,000
Remaining (unassigned)	~30k	1 in 85	1 in 1,500
European (Finnish)	~27k	1 in 400	1 in 2,000
Admixed American	~22k	1 in 120	1 in 990
African / African American	~21k	1 in 120	1 in 410
East Asian	~20k	1 in 110	1 in 760
Ashkenazi Jewish	~13k	1 in 320	≈ 1 in 4,300
Middle Eastern	~2,884	1 in 120	≈ 1 in 1,300

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.