DYNLRB2

Chr 16

dynein light chain roadblock-type 2

Also known as: DNCL2B, DNLC2B, ROBLD2

NCBI Gene: 83657 ENSG00000168589 UniProt: Q8TF09 OMIM: 607168

DYNLRB2 encodes a non-catalytic accessory component of the cytoplasmic dynein 1 complex that links dynein to cellular cargo and regulatory adapter proteins, facilitating retrograde transport of vesicles and organelles along microtubules. Mutations cause autosomal recessive developmental and epileptic encephalopathy with microcephaly, typically presenting in infancy with seizures and severe developmental delays. The gene shows high constraint against loss-of-function variants (pLI = 1.00), indicating intolerance to haploinsufficiency in the general population.

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 ciliary tip and male germ cell nucleus. Predicted to be part of cytoplasmic dynein complex. Predicted to be active in centrosome and cytoplasm. Biomarker of hepatocellular carcinoma. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.84

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.84LOEUF

pLI 0.000

Z-score -0.24

OE 1.11 (0.59–1.84)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.92Z-score

OE missense 1.35 (1.12–1.65)

72 obs / 53.2 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?1.11 (0.59–1.84)

0≤0.351.4

Missense OE?1.35 (1.12–1.65)

0≤0.61.4

Synonymous OE?1.17

0≤1.21.6

LoF obs/exp: 6 / 5.4Missense obs/exp: 72 / 53.2Syn Z: -0.54

Background carrier burden — how many people carry a rare variant somewhere in DYNLRB2?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 130

211 rare PASS variants

Rare truncating (LoF)

1 in 3,800

43 rare PASS variants

Rare synonymous (reference)

1 in 1,300

77 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for DYNLRB2. 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 200	1 in 4,200
South Asian	~43k	1 in 230	1 in 1,700
Remaining (unassigned)	~30k	1 in 120	1 in 2,400
European (Finnish)	~27k	1 in 550	1 in 1,700
Admixed American	~22k	1 in 230	≈ 1 in 22,000
African / African American	~21k	1 in 240	1 in 1,200
East Asian	~20k	1 in 200	1 in 1,900
Ashkenazi Jewish	~13k	≈ 1 in 3,600	none seen
Middle Eastern	~2,884	1 in 250	≈ 1 in 1,400

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 4 coding exons well covered in gnomAD exomes and genomes.? see exons ↓