DYNLT2B

Chr 3AR

dynein light chain Tctex-type 2B

ENSG00000213123 UniProt: Q8WW35 OMIM: 617353

The DYNLT2B protein functions as a non-catalytic accessory component of the cytoplasmic dynein 2 complex, which drives retrograde transport of cargos along microtubules within cilia and flagella. Mutations cause short-rib thoracic dysplasia 17 with or without polydactyly, a skeletal ciliopathy affecting thoracic development and limb formation. This condition follows autosomal recessive inheritance.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 2 complex (dynein-2 complex), a motor protein complex that drives the movement of cargos along microtubules within cilia and flagella in concert with the intraflagellar transport (IFT) system. Required for proper retrograde ciliary transport

OMIM ResearchGenerating clinical summary…

DNmechanismARLOEUF 1.491 OMIM phenotype

Clinical Summary— DYNLT2B

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Gene-Disease Validity (ClinGen)

short-rib thoracic dysplasia 17 with or without polydactyly · ARLimited

Limited evidence — not for standalone diagnostic reporting

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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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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.49LOEUF

pLI 0.000

Z-score 0.61

OE 0.76 (0.42–1.49)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

1.01Z-score

OE missense 0.67 (0.53–0.85)

48 obs / 72.0 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.76 (0.42–1.49)

0≤0.351.4

Missense OE?0.67 (0.53–0.85)

0≤0.61.4

Synonymous OE?0.82

0≤1.21.6

LoF obs/exp: 6 / 7.9Missense obs/exp: 48 / 72.0Syn Z: 0.70

This gene — mechanism propensity

0.6454th %ile

GOF

0.5563th %ile

LOF

0.4431th %ile

The highest-scoring mechanism for this gene is dominant-negative.

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.