DYNLT2

Chr 6

dynein light chain Tctex-type 2

Also known as: TCTE3, TCTEX1D3, TCTEX2, Tctex4, oda12

NCBI Gene: 6991 ENSG00000184786 UniProt: Q8IZS6 OMIM: 186977

This protein is a component of dynein motor complexes that drive movement along microtubules and is required for structural and functional integrity of cilia. Mutations in DYNLT2 cause autosomal recessive primary ciliary dyskinesia with situs inversus, a disorder affecting respiratory cilia function and organ positioning. The gene shows low constraint against loss-of-function mutations, consistent with its recessive inheritance pattern.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable dynein intermediate chain binding activity. Predicted to be involved in microtubule-based movement. Predicted to be located in cytosol and sperm flagellum. Predicted to be part of cytoplasmic dynein complex. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

GOFmechanismLOEUF 1.83

Clinical Summary— DYNLT2

⚡

Population Constraint (gnomAD)

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

📋

ClinVar Variants

26 VUS of 30 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?

1.83LOEUF

pLI 0.000

Z-score -0.65

OE 1.22 (0.78–1.83)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.04Z-score

OE missense 1.01 (0.86–1.19)

106 obs / 104.7 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?1.22 (0.78–1.83)

0≤0.351.4

Missense OE?1.01 (0.86–1.19)

0≤0.61.4

Synonymous OE?0.82

0≤1.21.6

LoF obs/exp: 12 / 9.8Missense obs/exp: 106 / 104.7Syn Z: 0.89

This gene — mechanism propensity

0.6064th %ile

GOF

0.6833th %ile

LOF

0.3842th %ile

The highest-scoring mechanism for this gene is gain-of-function.

GOFprediction 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

30 submitted variants in ClinVar

ClinVar

Classification Summary

VUS26

Likely Benign4

VUS

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Non-coding	Total
Pathogenic	0	0	0
Likely Pathogenic	0	0	0
VUS	26	0	26
Likely Benign	3	1	4
Benign	0	0	0
Total	29	1	30

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

View in ClinVar →

79 pathogenic / likely-pathogenic (of 84) ClinVar copy-number / structural variants overlap DYNLT2 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →