DYNC2H1

Chr 11ARDigenic recessive

dynein cytoplasmic 2 heavy chain 1

Also known as: ATD3, DHC1b, DHC2, DNCH2, DYH1B, SRPS2B, SRTD3, hdhc11

NCBI Gene: 79659ENSG00000187240UniProt: Q8NCM8OMIM: 603297

This gene encodes a cytoplasmic dynein protein that functions as a motor for retrograde intraflagellar transport and is essential for cilia biogenesis. Mutations cause a spectrum of ciliopathies characterized by polydactyly, abnormal skeletal development, and polycystic kidneys, with autosomal recessive inheritance. The gene shows high constraint against loss-of-function variants, reflecting its critical role in cellular function.

GeneReviewsOMIMResearchSummary from RefSeq, UniProt
LOFmechanismAR/Digenic recessiveLOEUF 0.581 OMIM phenotype
Clinical Summary— DYNC2H1
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Gene-Disease Validity (ClinGen)
asphyxiating thoracic dystrophy 3 · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
63 unique Pathogenic / Likely Pathogenic· 271 VUS of 499 total submissions
Explore recent and relevant literature in Research Assistant →
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GeneReview available — DYNC2H1
Authoritative clinical overview · Recommended first read
Open GeneReview ↗

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint
0.58LOEUF
pLI 0.000
Z-score 7.11
OE 0.49 (0.42–0.58)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
0.91Z-score
OE missense 0.94 (0.91–0.98)
1890 obs / 2004.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.49 (0.42–0.58)
0≤0.351.4
Missense OE0.94 (0.91–0.98)
0≤0.61.4
Synonymous OE1.04
0≤1.21.6
LoF obs/exp: 113 / 229.3Missense obs/exp: 1890 / 2004.6Syn Z: -0.73

ClinVar Variant Classifications

499 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic33
Likely Pathogenic30
VUS271
Likely Benign126
Benign2
Conflicting1
33
Pathogenic
30
Likely Pathogenic
271
VUS
126
Likely Benign
2
Benign
1
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
31
0
2
0
33
Likely Pathogenic
26
3
0
1
30
VUS
0
258
12
1
271
Likely Benign
0
3
63
60
126
Benign
0
0
1
1
2
Conflicting
—1
Total572647863463

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

View in ClinVar →

Protein Context — Lollipop Plot

DYNC2H1 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients