TEKT3

Chr 17AR

tektin 3

Also known as: SPGF81

NCBI Gene: 64518ENSG00000125409UniProt: Q9BXF9

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]

Primary Disease Associations & Inheritance

Spermatogenic failure 81MIM #620277
AR
231
ClinVar variants
122
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— TEKT3
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
122 Pathogenic / Likely Pathogenic· 107 VUS of 231 total submissions
Some data sources returned errors (1)

clinvar: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
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?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.20Z-score
OE missense 0.97 (0.88–1.07)
289 obs / 298.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.1.05 (0.76–1.46)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.97 (0.88–1.07)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.91
0≤1.21.6
LoF obs/exp: 25 / 23.9Missense obs/exp: 289 / 298.9Syn Z: 0.73

ClinVar Variant Classifications

231 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic118
Likely Pathogenic4
VUS107
Likely Benign1
Benign1
118
Pathogenic
4
Likely Pathogenic
107
VUS
1
Likely Benign
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
2
116
0
118
Likely Pathogenic
0
0
4
0
4
VUS
0
102
5
0
107
Likely Benign
0
1
0
0
1
Benign
0
0
1
0
1
Total01051260231

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

TEKT3 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
TEKTIN 3; TEKT3
MIM #612683 · *

Spermatogenic failure 81

MIM #620277

Molecular basis of disorder known

Autosomal recessive
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Bi-allelic human TEKT3 mutations cause male infertility with oligoasthenoteratozoospermia owing to acrosomal hypoplasia and reduced progressive motility.
Liu Y et al.·Hum Mol Genet
2023
Age-Associated Proteomic Changes in Human Spermatozoa.
Beg MA et al.·Int J Mol Sci
2025
Spermatozoa protein alterations in infertile men with bilateral varicocele.
Agarwal A et al.·Asian J Androl
2016
Tektin bundle interacting protein, TEKTIP1, functions to stabilize the tektin bundle and axoneme in mouse sperm flagella.
Geng XY et al.·Cell Mol Life Sci
2024Functional
Improved testing for CMT1A and HNPP using multiplex ligation-dependent probe amplification (MLPA) with rapid DNA preparations: comparison with the interphase FISH method.
Slater H et al.·Hum Mutat
2004
Determination of genomic copy number with quantitative microsphere hybridization.
Newkirk HL et al.·Hum Mutat
2006
A false-positive result at non-invasive prenatal testing due to maternal 17p12 microduplication.
Chen CP et al.·Taiwan J Obstet Gynecol
2022Case report
The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes.
Inoue K et al.·Genome Res
2001
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools