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GeneE
6 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
DRC4
dynein regulatory complex subunit 4
Chromosome 16 Β· 16q24.3
NCBI Gene: 2622Ensembl: ENSG00000141013.17HGNC: HGNC:4166UniProt: A0A087WZT7
32PubMed Papers
21Diseases
0Drugs
22Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingaxoneme assemblycilium movement involved in cell motilityprotein localization to ciliumprimary ciliary dyskinesiacancerbasal cell carcinomasquamous cell carcinoma
✦AI Summary

DRC4 (dynein regulatory complex subunit 4), also known as GAS8 in mammals, is a core structural component of the nexin-dynein regulatory complex (N-DRC), a protein complex essential for regulating ciliary and flagellar motility 1. DRC4 localizes along the N-DRC base plate and extends toward the nexin linker, where it contributes to the mechanical organization of axonemal microtubules 2. The protein plays a dual functional role: in motile cilia and sperm flagella, DRC4 maintains proper alignment of the nine peripheral microtubule doublets and coordinates ciliary beating dynamics 13. In primary (non-motile) cilia, DRC4 regulates Hedgehog signaling by facilitating smoothened trafficking into the cilium 4. Loss-of-function mutations in DRC4/GAS8 cause primary ciliary dyskinesia (PCD), characterized by chr16 respiratory infections, reduced fertility, and potential situs inversus 51. Notably, DRC4 mutations produce axonemal disorganization with microtubule misalignment and subtle beating pattern defects 1. In males, DRC4 defects specifically manifest as multiple morphological abnormalities of sperm flagella (MMAF) leading to male infertility without necessarily presenting classical PCD symptoms 3. DRC4 is functionally integrated with other N-DRC subunits; its disruption secondarily destabilizes associated complexes including inner dynein arms and radial spokes 6.

Sources cited
1
GAS8/DRC4 mutations cause PCD with axonemal disorganization, microtubule misalignment, and motile cilia with subtle beating defects; mutations affect DRC3 localization
PMID: 27120127
2
GAS8/DRC4 splice variant causes male infertility with MMAF phenotype via axonemal microtubule misalignment without necessarily causing systemic PCD symptoms
PMID: 37950557
3
DRC4 C-terminus localizes along the N-DRC base plate extending toward the nexin linker in flagellar structure
PMID: 25564608
4
GAS8/DRC4 is required for motile cilia function and hedgehog signaling regulation; mutations cause PCD phenotypes in mice and affect swim velocity in Chlamydomonas
PMID: 27472056
5
Loss-of-function GAS8/DRC4 mutations cause PCD with nexin-dynein regulatory complex defects detected by immunofluorescence
PMID: 26387594
6
DRC4 is part of N-DRC; loss of other N-DRC subunits disrupts assembly of DRC4-containing complex and destabilizes inner dynein arms and radial spokes
PMID: 29167384
Disease Associationsβ“˜21
primary ciliary dyskinesiaOpen Targets
0.70Strong
cancerOpen Targets
0.36Weak
basal cell carcinomaOpen Targets
0.36Weak
squamous cell carcinomaOpen Targets
0.33Weak
Alzheimer diseaseOpen Targets
0.28Weak
suntanOpen Targets
0.22Weak
genetic disorderOpen Targets
0.19Weak
skin diseaseOpen Targets
0.15Weak
androgenetic alopeciaOpen Targets
0.14Weak
eye inflammationOpen Targets
0.13Weak
hair colorOpen Targets
0.11Weak
neoplasmOpen Targets
0.10Weak
papillary thyroid carcinomaOpen Targets
0.10Weak
skin carcinoma in situOpen Targets
0.10Weak
skin neoplasmOpen Targets
0.10Suggestive
melanomaOpen Targets
0.08Suggestive
skin cancerOpen Targets
0.08Suggestive
eyelid diseaseOpen Targets
0.08Suggestive
melanocytic nevusOpen Targets
0.08Suggestive
lip cancerOpen Targets
0.08Suggestive
Ciliary dyskinesia, primary, 33UniProt
Pathogenic Variants22
NM_001481.3(DRC4):c.1069C>T (p.Gln357Ter)Pathogenic
Primary ciliary dyskinesia 33|GAS8-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 357
NM_001481.3(DRC4):c.495+1G>TLikely pathogenic
Primary ciliary dyskinesia 33
β˜…β˜…β˜†β˜†2023
NM_001481.3(DRC4):c.495+1G>ALikely pathogenic
Clear cell carcinoma of kidney|Primary ciliary dyskinesia 33
β˜…β˜†β˜†β˜†2025
NM_001481.3(DRC4):c.145C>T (p.Arg49Ter)Pathogenic
Primary ciliary dyskinesia 33
β˜…β˜†β˜†β˜†2025β†’ Residue 49
NM_001481.3(DRC4):c.97G>T (p.Glu33Ter)Pathogenic
Primary ciliary dyskinesia 33
β˜…β˜†β˜†β˜†2025β†’ Residue 33
NM_001481.3(DRC4):c.547C>T (p.Arg183Ter)Pathogenic
Primary ciliary dyskinesia 33
β˜…β˜†β˜†β˜†2025β†’ Residue 183
NM_001481.3(DRC4):c.1011+1G>TLikely pathogenic
Primary ciliary dyskinesia 33
β˜…β˜†β˜†β˜†2025
NM_001481.3(DRC4):c.924+2_924+3delLikely pathogenic
Primary ciliary dyskinesia 33
β˜…β˜†β˜†β˜†2025
NM_001481.3(DRC4):c.278_279dup (p.Glu94fs)Pathogenic
Primary ciliary dyskinesia 33
β˜…β˜†β˜†β˜†2024β†’ Residue 94
NM_001481.3(DRC4):c.1105_1106insTA (p.Arg369fs)Pathogenic
Primary ciliary dyskinesia 33
β˜…β˜†β˜†β˜†2024β†’ Residue 369
NM_001481.3(DRC4):c.796G>T (p.Glu266Ter)Pathogenic
Primary ciliary dyskinesia 33
β˜…β˜†β˜†β˜†2024β†’ Residue 266
NM_001481.3(DRC4):c.1221+1G>TLikely pathogenic
Primary ciliary dyskinesia 33
β˜…β˜†β˜†β˜†2024
NM_001481.3(DRC4):c.757-1G>CLikely pathogenic
Primary ciliary dyskinesia 33
β˜…β˜†β˜†β˜†2023
NM_001481.3(DRC4):c.1000C>T (p.Arg334Ter)Pathogenic
Primary ciliary dyskinesia 33
β˜…β˜†β˜†β˜†2023β†’ Residue 334
NM_001481.3(DRC4):c.1011+2T>CLikely pathogenic
Primary ciliary dyskinesia 33
β˜…β˜†β˜†β˜†2022
NM_001481.3(DRC4):c.887del (p.Gln296fs)Pathogenic
Primary ciliary dyskinesia 33
β˜…β˜†β˜†β˜†2022β†’ Residue 296
NM_001481.3(DRC4):c.886C>T (p.Gln296Ter)Pathogenic
Primary ciliary dyskinesia 33
β˜…β˜†β˜†β˜†2020β†’ Residue 296
NM_001481.3(DRC4):c.718dup (p.Ile240fs)Pathogenic
Primary ciliary dyskinesia 33
β˜…β˜†β˜†β˜†2019β†’ Residue 240
NC_000016.10:g.(?_90022702)_(90040529_?)delPathogenic
Primary ciliary dyskinesia 33
β˜…β˜†β˜†β˜†2019
NM_001481.3(GAS8):c.865del (p.Glu289fs)Likely pathogenic
Primary ciliary dyskinesia 33
β˜…β˜†β˜†β˜†2019β†’ Residue 289
View on ClinVar β†—
Related Genes
DNAI2Protein interaction96%RSPH3Protein interaction92%CCDC39Protein interaction88%DRC7Protein interaction85%SERPINE2Protein interaction81%DNALI1Protein interaction77%
Tissue Expression6 tissues
Heart
100%
Ovary
70%
Liver
37%
Brain
36%
Lung
35%
Bone Marrow
15%
Gene Interaction Network
Click a node to explore
DRC4DNAI2RSPH3CCDC39DRC7SERPINE2DNALI1
PROTEIN STRUCTURE
Preparing viewer…
PDB8J07 Β· 4.10 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.41LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.15 [0.94–1.41]
RankingsWhere DRC4 stands among ~20K protein-coding genes
  • #11,503of 20,598
    Most Researched32
  • #2,116of 5,498
    Most Pathogenic Variants22
  • #14,591of 17,882
    Most Constrained (LOEUF)1.41
Genes detectedDRC4
Sources retrieved6 papers
Response timeβ€”
πŸ“„ Sources
6β–Ό
1
Mutations in GAS8, a Gene Encoding a Nexin-Dynein Regulatory Complex Subunit, Cause Primary Ciliary Dyskinesia with Axonemal Disorganization.
PMID: 27120127
Hum Mutat Β· 2016
1.00
2
A splice donor variant of GAS8 induces structural disorganization of the axoneme in sperm flagella and leads to nonsyndromic male infertility.
PMID: 37950557
Clin Genet Β· 2024
0.83
3
DRC2/CCDC65 is a central hub for assembly of the nexin-dynein regulatory complex and other regulators of ciliary and flagellar motility.
PMID: 29167384
Mol Biol Cell Β· 2018
0.67
4
Mutation of Growth Arrest Specific 8 Reveals a Role in Motile Cilia Function and Human Disease.
PMID: 27472056
PLoS Genet Β· 2016
0.50
5
In situ localization of N and C termini of subunits of the flagellar nexin-dynein regulatory complex (N-DRC) using SNAP tag and cryo-electron tomography.
PMID: 25564608
J Biol Chem Β· 2015
0.33