STARD9

Chr 15

StAR related lipid transfer domain containing 9

Also known as: KIF16A

NCBI Gene: 57519 ENSG00000159433 UniProt: Q9P2P6 OMIM: 614642

Enables microtubule binding activity and microtubule motor activity. Involved in spindle assembly. Located in centriole; cytoplasm; and nucleus. [provided by Alliance of Genome Resources, Jul 2025]

OMIM Research

Enables microtubule binding activity and microtubule motor activity. Involved in spindle assembly. Located in centriole; cytoplasm; and nucleus. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.63

LOEUF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.63LOEUF

pLI 0.000

Z-score 5.73

OE 0.53 (0.45–0.63)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

2.50Z-score

OE missense 0.86 (0.82–0.89)

2049 obs / 2392.8 exp

Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?

LoF OE?0.53 (0.45–0.63)

0≤0.351.4

Missense OE?0.86 (0.82–0.89)

0≤0.61.4

Synonymous OE?0.86

0≤1.21.6

LoF obs/exp: 92 / 173.3Missense obs/exp: 2049 / 2392.8Syn Z: 3.47

Background carrier burden — how many people carry a rare variant somewhere in STARD9?

gnomAD v4 · ~693k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 9

6,315 rare PASS variants

Rare truncating (LoF)

1 in 140

876 rare PASS variants

Rare synonymous (reference)

1 in 23

2,372 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for STARD9. 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)	~540k	1 in 12	1 in 210
South Asian	~40k	1 in 8	1 in 120
Remaining (unassigned)	~29k	1 in 8	1 in 110
African / African American	~21k	1 in 7	1 in 94
East Asian	~18k	1 in 11	1 in 120
Admixed American	~18k	1 in 9	1 in 110
European (Finnish)	~18k	1 in 24	1 in 230
Ashkenazi Jewish	~13k	1 in 34	1 in 320
Middle Eastern	~2,851	1 in 9	1 in 260

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): 25 of 33 coding exons well covered in gnomAD exomes; exons 3, 4, 7, 8, 10 and 3 more marginal. Genomes: all 33.? see exons ↓