TEKT3

Chr 17AR

tektin 3

Also known as: SPGF81

NCBI Gene: 64518 ENSG00000125409 UniProt: Q9BXF9 OMIM: 612683

The protein forms filamentous polymers that are incorporated into ciliary and flagellar microtubules and is required for normal sperm motility. Mutations cause spermatogenic failure with autosomal recessive inheritance. This gene shows very low constraint against loss-of-function variants in the general population.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene product belongs to the tektin family of proteins. Tektins comprise a family of filament-forming proteins that are coassembled with tubulins to form ciliary and flagellar microtubules. The exact function of this gene is not known. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Spermatogenic failure 81MIM #620277

Clinical highlights

Gene–disease validity

Not independently assessedOMIM lists Spermatogenic failure 81; no ClinGen or GenCC tier

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.46

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.46LOEUF

pLI 0.000

Z-score -0.21

OE 1.05 (0.76–1.46)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.20Z-score

OE missense 0.97 (0.88–1.07)

289 obs / 298.9 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?1.05 (0.76–1.46)

0≤0.351.4

Missense OE?0.97 (0.88–1.07)

0≤0.61.4

Synonymous OE?0.91

0≤1.21.6

LoF obs/exp: 25 / 23.9Missense obs/exp: 289 / 298.9Syn Z: 0.73

Background carrier burden — how many people carry a rare variant somewhere in TEKT3?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 60

632 rare PASS variants

Rare truncating (LoF)

1 in 220

109 rare PASS variants

Rare synonymous (reference)

1 in 120

240 rare PASS variants

Rare missense and truncating variants are carried at similar rates in TEKT3; 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 83	1 in 400
South Asian	~43k	1 in 55	1 in 550
Remaining (unassigned)	~30k	1 in 63	1 in 380
European (Finnish)	~27k	1 in 480	1 in 3,800
Admixed American	~22k	1 in 90	1 in 370
African / African American	~21k	1 in 65	1 in 550
East Asian	~20k	1 in 66	1 in 330
Ashkenazi Jewish	~13k	1 in 440	none seen
Middle Eastern	~2,884	1 in 56	1 in 260

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): All 7 coding exons well covered in gnomAD exomes and genomes.? see exons ↓