DRC1

Chr 2

dynein regulatory complex subunit 1

ENSG00000157856UniProt: Q9UBG3

Promotes cell proliferation, G1/S cell cycle progression and induces expression of the cell cycle regulator CCND1 (PubMed:30009832). Regulates proliferation induced by pro-inflammatory cytokine response via activation of NFKB1 and PI3K/AKT signaling pathways (PubMed:30009832)

Primary Disease Associations & Inheritance

UniProtEsophageal cancer
595
ClinVar variants
49
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— DRC1
🧬
Gene-Disease Validity (ClinGen)
primary ciliary dyskinesia 21 · 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
49 Pathogenic / Likely Pathogenic· 235 VUS of 595 total submissions
Some data sources returned errors (2)

ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.04LOEUF
pLI 0.000
Z-score 1.33
OE 0.79 (0.60–1.04)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
-0.05Z-score
OE missense 1.01 (0.93–1.09)
402 obs / 399.4 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.79 (0.60–1.04)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.01 (0.93–1.09)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.05
0≤1.21.6
LoF obs/exp: 35 / 44.6Missense obs/exp: 402 / 399.4Syn Z: -0.48

ClinVar Variant Classifications

595 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic34
Likely Pathogenic15
VUS235
Likely Benign227
Benign71
Conflicting13
34
Pathogenic
15
Likely Pathogenic
235
VUS
227
Likely Benign
71
Benign
13
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
9
0
25
0
34
Likely Pathogenic
7
1
7
0
15
VUS
2
213
17
3
235
Likely Benign
0
13
109
105
227
Benign
0
7
58
6
71
Conflicting
—13
Total18234216114595

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

View in ClinVar →

Protein Context — Lollipop Plot

DRC1 · protein map & ClinVar variants

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

Gene2Phenotype Curations

DRC1-related primary ciliary dyskinesia

strong
ARLoss Of FunctionAbsent Gene Product
Dev. Disorders
G2P ↗

Gene2Phenotype curations · DECIPHER consortium patient cohort (public variants) · deciphergenomics.org

OMIM — Genotype-Phenotype

OMIM

No OMIM entries found.

📖
GeneReview available — DRC1
Authoritative clinical overview · NCBI Bookshelf · Recommended first read
Open GeneReview ↗
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Expanded phenotype of primary ciliary dyskinesia related to DRC1 pathogenic variant with dysmorphisms and vascular anomalies.
LeBlanc S et al.·Am J Med Genet A
2022Case report
Characterization of a DRC1 null variant associated with primary ciliary dyskinesia and female infertility.
Pereira R et al.·J Assist Reprod Genet
2023
A recurrent loss-of-function variant in DRC1 causes non-syndromic severe asthenozoospermia with favorable intracytoplasmic sperm injection and pregnancy outcomes.
Tebbakh C et al.·Andrology
2025
A case of primary ciliary dyskinesis with DRC1 deletion and literature review: Additional evidence on the founder effect.
Ohya A et al.·Pediatr Int
2024Review
DRC1 deficiency caused primary ciliary dyskinesia and MMAF in a Chinese patient.
Lei C et al.·J Hum Genet
2022
A 3000-year-old founder variant in the DRC1 gene causes primary ciliary dyskinesia in Japan and Korea.
Hashizume R et al.·J Hum Genet
2024
Prevalence and founder effect of DRC1 exon 1-4 deletion in Korean patients with primary ciliary dyskinesia.
Kim MJ et al.·J Hum Genet
2023Cohort
Primary ciliary dyskinesia caused by a large homozygous deletion including exons 1-4 of DRC1 in Japanese patients with recurrent sinopulmonary infection.
Keicho N et al.·Mol Genet Genomic Med
2020Cohort
Impact of primary ciliary dyskinesia: Beyond sinobronchial syndrome in Japan.
Keicho N et al.·Respir Investig
2024Review
Recurring large deletion in DRC1 (CCDC164) identified as causing primary ciliary dyskinesia in two Asian patients.
Morimoto K et al.·Mol Genet Genomic Med
2019Case report
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools