TEKT2

Chr 1

tektin 2

Also known as: TEKTB1, TEKTIN-T, h-tektin-t

NCBI Gene: 27285 ENSG00000092850 UniProt: Q9UIF3 OMIM: 608953

This protein forms filamentous polymers that are essential components of ciliary and flagellar microtubules and plays a key role in dynein arm assembly in sperm flagella and respiratory cilia. Mutations cause autosomal recessive primary ciliary dyskinesia, a disorder affecting respiratory function, fertility, and sometimes laterality. The gene is not highly constrained against loss-of-function variants.

OMIM ResearchSummary from RefSeq, 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. This gene is expressed in the testis and its protein is localized to the flagella of the sperms, indicating that it may play a role in spermatogenesis. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

MultiplemechanismLOEUF 1.25

Clinical Summary— TEKT2

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

79 VUS of 99 total submissions

Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.25LOEUF

pLI 0.000

Z-score 0.63

OE 0.86 (0.60–1.25)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.51Z-score

OE missense 1.09 (0.99–1.21)

268 obs / 245.3 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.86 (0.60–1.25)

0≤0.351.4

Missense OE?1.09 (0.99–1.21)

0≤0.61.4

Synonymous OE?0.97

0≤1.21.6

LoF obs/exp: 19 / 22.2Missense obs/exp: 268 / 245.3Syn Z: 0.25

This gene — mechanism propensity

0.75top 25%

GOF

0.76top 25%

LOF

0.2190th %ile

This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.

GOFprediction above median

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

99 submitted variants in ClinVar

ClinVar

Classification Summary

VUS79

Likely Benign5

Benign5

VUS

Likely Benign

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	0	0	0	0
Likely Pathogenic	0	0	0	0
VUS	79	0	0	79
Likely Benign	2	0	3	5
Benign	1	3	1	5
Total	82	3	4	89

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

View in ClinVar →

8 pathogenic / likely-pathogenic (of 14) ClinVar copy-number / structural variants overlap TEKT2 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →