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GeneE
9 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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DNAAF5
dynein axonemal assembly factor 5
Chromosome 7 Β· 7p22.3
NCBI Gene: 54919Ensembl: ENSG00000164818.17HGNC: HGNC:26013UniProt: B3KPE2
70PubMed Papers
21Diseases
0Drugs
51Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
motile ciliumdynein intermediate chain bindingcilium movementouter dynein arm assemblyprimary ciliary dyskinesiaovarian neoplasmtongue cancercongenital heart disease
✦AI Summary

DNAAF5 (dynein axonemal assembly factor 5) is a cytoplasmic protein essential for delivering dynein motor machinery to motile cilia 1. It functions as a dynein motor assembly factor required for the assembly of axonemal dynein inner and outer arms, which are critical structures attached to peripheral microtubules that enable cilium motility 12. DNAAF5 operates as part of an early preassembly complex with other dynein-associated proteins during cytoplasmic preassembly of dynein before trafficking into cilia 3. Biallelic pathogenic variants in DNAAF5 cause primary ciliary dyskinesia (PCD), an autosomal recessive disorder characterized by impaired ciliary function 14. Disease severity exhibits allele-specific and tissue-specific variation; null mutations are embryonic lethal, while missense mutations permit partial cilia function preservation with variable severity across multiciliated tissues 12. DNAAF5 variants rank among the most prevalent causes of PCD, identified in ~14% of patients in consanguineous populations 4. Neonatal PCD diagnosis has been achieved through targeted genetic testing of DNAAF5 variants 5. Beyond ciliary disease, a genome-wide association study identified an intronic DNAAF5 variant associated with increased cerebrospinal fluid phosphorylated tau levels across neurodegenerative diseases, suggesting potential broader neurobiological relevance 6.

Sources cited
1
DNAAF5 is a dynein motor assembly factor associated with primary ciliary dyskinesia; demonstrates allele-specific and tissue-specific gene dosage effects on cilia function
PMID: 37104040
2
Confirms DNAAF5 role in dynein motor assembly with allele-specific disease phenotypes and tissue-specific cilia function variation
PMID: 36712068
3
Describes dynein preassembly complex including proteins required for motile cilia assembly in cytoplasm
PMID: 29358401
4
DNAAF5 among most prevalent disease-causing genes (14%) in PCD diagnosis, particularly in consanguineous populations
PMID: 38296613
5
DNAAF5 variants identified in neonatal PCD diagnosis through targeted genetic testing
PMID: 38679661
6
Intronic DNAAF5 variant associated with increased phosphorylated tau levels in cerebrospinal fluid across neurodegenerative diseases
PMID: 37539664
Disease Associationsβ“˜21
primary ciliary dyskinesiaOpen Targets
0.79Strong
ovarian neoplasmOpen Targets
0.28Weak
tongue cancerOpen Targets
0.25Weak
congenital heart diseaseOpen Targets
0.12Weak
schizophreniaOpen Targets
0.11Weak
hepatocellular carcinomaOpen Targets
0.08Suggestive
Abnormality of the skeletal systemOpen Targets
0.07Suggestive
ciliopathyOpen Targets
0.05Suggestive
esophageal diseaseOpen Targets
0.04Suggestive
anaphylaxisOpen Targets
0.04Suggestive
ciliary dyskinesia, primary, 49, without situs inversusOpen Targets
0.04Suggestive
mixed connective tissue diseaseOpen Targets
0.04Suggestive
ciliary dyskinesia, primary, 38Open Targets
0.04Suggestive
ciliary dyskinesia, primary, 40Open Targets
0.04Suggestive
primary ciliary dyskinesia 5Open Targets
0.04Suggestive
Varicose veinsOpen Targets
0.04Suggestive
ciliary dyskinesia, primary, 45Open Targets
0.04Suggestive
ciliary dyskinesia, primary, 46Open Targets
0.04Suggestive
ciliary dyskinesia, primary, 50Open Targets
0.04Suggestive
ciliary dyskinesia, primary, 51Open Targets
0.03Suggestive
Ciliary dyskinesia, primary, 18UniProt
Pathogenic Variants51
NM_017802.4(DNAAF5):c.1499G>T (p.Cys500Phe)Pathogenic
Primary ciliary dyskinesia|Primary ciliary dyskinesia 18|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 500
NM_017802.4(DNAAF5):c.2374C>T (p.Arg792Ter)Pathogenic
Primary ciliary dyskinesia
β˜…β˜…β˜†β˜†2026β†’ Residue 792
NM_017802.4(DNAAF5):c.1470+1G>ALikely pathogenic
Primary ciliary dyskinesia|Primary ciliary dyskinesia 18
β˜…β˜…β˜†β˜†2025
NM_017802.4(DNAAF5):c.2450del (p.Ser817fs)Pathogenic
DNAAF5-related disorder|Primary ciliary dyskinesia 18
β˜…β˜…β˜†β˜†2024β†’ Residue 817
NM_017802.4(DNAAF5):c.2108_2114delinsCCACCCTGGGT (p.Met703fs)Pathogenic
Primary ciliary dyskinesia|Primary ciliary dyskinesia 18
β˜…β˜…β˜†β˜†2024β†’ Residue 703
NM_017802.4(DNAAF5):c.757C>T (p.Arg253Ter)Pathogenic
Primary ciliary dyskinesia|Primary ciliary dyskinesia 18
β˜…β˜…β˜†β˜†2023β†’ Residue 253
NM_017802.4(DNAAF5):c.926G>A (p.Trp309Ter)Pathogenic
Primary ciliary dyskinesia|Primary ciliary dyskinesia 18
β˜…β˜…β˜†β˜†2022β†’ Residue 309
NM_017802.4(DNAAF5):c.2384T>C (p.Leu795Pro)Pathogenic
Primary ciliary dyskinesia 18|Primary ciliary dyskinesia|not provided
β˜…β˜…β˜†β˜†2022β†’ Residue 795
NM_017802.4(DNAAF5):c.1258T>C (p.Cys420Arg)Likely pathogenic
Primary ciliary dyskinesia
β˜…β˜…β˜†β˜†2022β†’ Residue 420
NM_017802.4(DNAAF5):c.1615-2A>GLikely pathogenic
Primary ciliary dyskinesia
β˜…β˜…β˜†β˜†2021
NM_017802.4(DNAAF5):c.1393C>T (p.Arg465Ter)Pathogenic
Primary ciliary dyskinesia
β˜…β˜†β˜†β˜†2026β†’ Residue 465
NM_017802.4(DNAAF5):c.960_961del (p.Asn320fs)Pathogenic
Primary ciliary dyskinesia
β˜…β˜†β˜†β˜†2025β†’ Residue 320
NM_017802.4(DNAAF5):c.468C>A (p.Cys156Ter)Pathogenic
Primary ciliary dyskinesia
β˜…β˜†β˜†β˜†2025β†’ Residue 156
NM_017802.4(DNAAF5):c.1988_2030dup (p.Ser679fs)Pathogenic
Primary ciliary dyskinesia 18
β˜…β˜†β˜†β˜†2025β†’ Residue 679
NM_017802.4(DNAAF5):c.2289del (p.Ala764fs)Pathogenic
Primary ciliary dyskinesia
β˜…β˜†β˜†β˜†2025β†’ Residue 764
NM_017802.4(DNAAF5):c.308dup (p.Leu104fs)Pathogenic
Primary ciliary dyskinesia
β˜…β˜†β˜†β˜†2025β†’ Residue 104
NM_017802.4(DNAAF5):c.2346C>G (p.Tyr782Ter)Pathogenic
Primary ciliary dyskinesia
β˜…β˜†β˜†β˜†2025β†’ Residue 782
NM_017802.4(DNAAF5):c.321_325dup (p.Arg109fs)Pathogenic
Primary ciliary dyskinesia
β˜…β˜†β˜†β˜†2025β†’ Residue 109
NM_017802.4(DNAAF5):c.430dup (p.Ala144fs)Pathogenic
Primary ciliary dyskinesia
β˜…β˜†β˜†β˜†2025β†’ Residue 144
NM_017802.4(DNAAF5):c.1133del (p.Lys378fs)Pathogenic
Primary ciliary dyskinesia
β˜…β˜†β˜†β˜†2025β†’ Residue 378
View on ClinVar β†—
Related Genes
RSPH9Protein interaction100%DNAAF1Protein interaction94%DNAAF2Protein interaction93%CCDC39Protein interaction88%CCDC40Protein interaction86%DRC1Protein interaction79%
Tissue Expression6 tissues
Heart
100%
Ovary
79%
Liver
65%
Bone Marrow
60%
Lung
58%
Brain
42%
Gene Interaction Network
Click a node to explore
DNAAF5RSPH9DNAAF1DNAAF2CCDC39CCDC40DRC1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q86Y56
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.12LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.91 [0.74–1.12]
RankingsWhere DNAAF5 stands among ~20K protein-coding genes
  • #6,709of 20,598
    Most Researched70
  • #1,308of 5,498
    Most Pathogenic Variants51 Β· top quartile
  • #11,538of 17,882
    Most Constrained (LOEUF)1.12
Genes detectedDNAAF5
Sources retrieved9 papers
Response timeβ€”
πŸ“„ Sources
9β–Ό
1
The effect of Dnaaf5 gene dosage on primary ciliary dyskinesia phenotypes.
PMID: 37104040
JCI Insight Β· 2023
1.00
2
Genome-Wide Meta-Analysis of Cerebrospinal Fluid Biomarkers in Alzheimer's Disease and Parkinson's Disease Cohorts.
PMID: 37539664
Mov Disord Β· 2023
0.89
3
The effect of
PMID: 36712068
bioRxiv Β· 2023
0.78
4
Comprehensive Proteomics and Machine Learning Analysis to Distinguish Follicular Adenoma and Follicular Thyroid Carcinoma from Indeterminate Thyroid Nodules.
PMID: 40205804
Endocrinol Metab (Seoul) Β· 2025
0.67
5
Stepwise genetic approach for the diagnosis of primary ciliary dyskinesia in highly consanguineous populations.
PMID: 38296613
Arch Dis Child Β· 2024
0.56