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GeneE
10 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.
DNAH17
dynein axonemal heavy chain 17
Chromosome 17 Β· 17q25.3
NCBI Gene: 8632Ensembl: ENSG00000187775.17HGNC: HGNC:2946UniProt: Q9UFH2
26PubMed Papers
21Diseases
0Drugs
23Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
sperm principal piecesperm midpiecesperm end pieceouter dynein arm assemblyspermatogenic failure 39neurodegenerative diseasenon-syndromic male infertility due to sperm motility disorderShort stature
✦AI Summary

DNAH17 encodes dynein axonemal heavy chain 17, a force-generating motor protein component of outer dynein arms (ODAs) in sperm flagella and motile cilia 1. It produces force toward microtubule minus ends through ATPase activity, essential for cilium and flagellum movement 2. DNAH17 is critical for sperm flagellar assembly, beating mechanics, and structural integrity of the axoneme 3. Loss-of-function mutations in DNAH17 cause multiple morphological abnormalities of sperm flagella (MMAF) with impaired outer dynein arm assembly and docking 3. Mutations disrupt axonemal protein levels including DNAH17 itself, affecting sperm motility and morphology 4. DNAH17 variants are associated with oligoasthenoteratozoospermia and male infertility 5, with autosomal-recessive inheritance patterns identified in multiple families 3. Clinically, DNAH17 mutations cause spermatogenic failure 39 and asthenozoospermia. Men with MMAF-harboring DNAH17 variants show poor outcomes with standard intracytoplasmic sperm injection (ICSI) but may benefit from ICSI combined with artificial oocyte activation 2. Notably, DNAH17 deficiency does not cause total fertilization failure after ICSI 3. Additionally, DNAH17 variants are enriched in hypospadias patients, linking ciliary dysfunction to urogenital development 6, and variants associate with left-right asymmetry disorders 7.

Sources cited
1
DNAH17 mutations cause multiple morphological abnormalities of sperm flagella (MMAF)
PMID: 39417902
2
DNAH17 mutations cause sperm flagellum defects; ICSI with AOA may improve outcomes
PMID: 37574497
3
DNAH17 deficiency impairs outer dynein arm assembly and docking; does not cause total fertilization failure after ICSI
PMID: 40009974
4
DNAH17 variants identified in male infertility cohort using whole exome sequencing
PMID: 39267058
5
DNAH17 levels reduced in sperm with flagellar defects; associated with oligoasthenoteratozoospermia
PMID: 39245651
6
DNAH17 variants significantly enriched in hypospadias patients; ciliary genes linked to urogenital development
PMID: 37168556
7
DNAH17 variants associated with left-right asymmetry disorders
PMID: 35692830
8
DNAH17 damaging variants identified in non-obstructive azoospermia patients
PMID: 38511217
Disease Associationsβ“˜21
spermatogenic failure 39Open Targets
0.73Strong
neurodegenerative diseaseOpen Targets
0.50Moderate
non-syndromic male infertility due to sperm motility disorderOpen Targets
0.37Weak
Short statureOpen Targets
0.34Weak
pulmonary embolismOpen Targets
0.32Weak
obesityOpen Targets
0.29Weak
ankylosing spondylitisOpen Targets
0.29Weak
Male infertility with spermatogenesis disorderOpen Targets
0.27Weak
bile duct disorderOpen Targets
0.24Weak
hypertrophic cardiomyopathyOpen Targets
0.24Weak
lumbar disc herniationOpen Targets
0.23Weak
Palmar FibromatosisOpen Targets
0.23Weak
genetic disorderOpen Targets
0.19Weak
spinal cord injuryOpen Targets
0.19Weak
azoospermiaOpen Targets
0.11Weak
hypertensionOpen Targets
0.10Weak
circadian rhythm sleep disorderOpen Targets
0.09Suggestive
spermatogenic failure 54Open Targets
0.09Suggestive
spermatogenic failure, X-linked, 8Open Targets
0.09Suggestive
spermatogenic failure 41Open Targets
0.09Suggestive
Spermatogenic failure 39UniProt
Pathogenic Variants23
NM_173628.4(DNAH17):c.1076_1077dup (p.Lys360Ter)Pathogenic
not provided|Male infertility
β˜…β˜…β˜†β˜†2026β†’ Residue 360
NM_173628.4(DNAH17):c.7752+2T>APathogenic
Spermatogenic failure 39|Male infertility
β˜…β˜…β˜†β˜†2026
NM_173628.4(DNAH17):c.7900+1G>TLikely pathogenic
Spermatogenic failure 39
β˜…β˜†β˜†β˜†2025
NM_173628.4(DNAH17):c.3577C>T (p.Gln1193Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 1193
NM_173628.4(DNAH17):c.7020dup (p.Asp2341fs)Likely pathogenic
Male infertility with spermatogenesis disorder
β˜…β˜†β˜†β˜†2024β†’ Residue 2341
NM_173628.4(DNAH17):c.2314C>T (p.Arg772Ter)Likely pathogenic
Spermatogenic failure 39
β˜…β˜†β˜†β˜†2023β†’ Residue 772
NM_173628.4(DNAH17):c.11753del (p.Ala3918fs)Likely pathogenic
DNAH17-related disorder
β˜…β˜†β˜†β˜†2023β†’ Residue 3918
NM_173628.4(DNAH17):c.12390dup (p.Asn4131fs)Likely pathogenic
DNAH17-related disorder
β˜…β˜†β˜†β˜†2023β†’ Residue 4131
NM_173628.4(DNAH17):c.5562_5563del (p.Glu1855fs)Likely pathogenic
DNAH17-related disorder
β˜…β˜†β˜†β˜†2023β†’ Residue 1855
NM_173628.4(DNAH17):c.4502_4503dup (p.Ile1502fs)Likely pathogenic
Spermatogenic failure 39
β˜…β˜†β˜†β˜†2022β†’ Residue 1502
NM_173628.4(DNAH17):c.2182_2183del (p.Lys728fs)Likely pathogenic
Spermatogenic failure 39
β˜…β˜†β˜†β˜†2022β†’ Residue 728
NM_173628.4(DNAH17):c.2869G>T (p.Glu957Ter)Likely pathogenic
Spermatogenic failure 39
β˜…β˜†β˜†β˜†2022β†’ Residue 957
NM_173628.4(DNAH17):c.11793G>A (p.Trp3931Ter)Likely pathogenic
Spermatogenic failure 39
β˜…β˜†β˜†β˜†2021β†’ Residue 3931
NM_173628.4(DNAH17):c.5486G>A (p.Cys1829Tyr)Pathogenic
Spermatogenic failure 39
β˜…β˜†β˜†β˜†2020β†’ Residue 1829
NM_173628.4(DNAH17):c.1293_1294del (p.Tyr431_Lys432delinsTer)Pathogenic
Spermatogenic failure 39
β˜…β˜†β˜†β˜†2020β†’ Residue 431
NM_173628.4(DNAH17):c.8821C>T (p.Arg2941Ter)Likely pathogenic
Spermatogenic failure 39
β˜…β˜†β˜†β˜†β†’ Residue 2941
NM_173628.4(DNAH17):c.6818+1G>ALikely pathogenic
DNAH17-related disorder
β˜†β˜†β˜†β˜†2024
NM_173628.4(DNAH17):c.10571del (p.Lys3524fs)Likely pathogenic
DNAH17-related disorder
β˜†β˜†β˜†β˜†2023β†’ Residue 3524
NM_173628.4(DNAH17):c.7994_8012del (p.Gly2665fs)Pathogenic
Spermatogenic failure 39
β˜†β˜†β˜†β˜†2022β†’ Residue 2665
NM_173628.4(DNAH17):c.5707C>T (p.Arg1903Cys)Pathogenic
Spermatogenic failure 39
β˜†β˜†β˜†β˜†2022β†’ Residue 1903
View on ClinVar β†—
Related Genes
DNAI1Protein interaction98%DNAI2Protein interaction98%CFAP70Protein interaction92%DNAH1Protein interaction87%DNAL1Protein interaction79%NME8Protein interaction75%
Tissue Expression6 tissues
Brain
100%
Lung
62%
Bone Marrow
56%
Ovary
23%
Liver
20%
Heart
7%
Gene Interaction Network
Click a node to explore
DNAH17DNAI1DNAI2CFAP70DNAH1DNAL1NME8
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9UFH2
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.86LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.79 [0.72–0.86]
RankingsWhere DNAH17 stands among ~20K protein-coding genes
  • #12,775of 20,598
    Most Researched26
  • #2,076of 5,498
    Most Pathogenic Variants23
  • #7,523of 17,882
    Most Constrained (LOEUF)0.86
Genes detectedDNAH17
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Genetic etiological spectrum of sperm morphological abnormalities.
PMID: 39417902
J Assist Reprod Genet Β· 2024
1.00
2
Whole exome sequencing analysis of 167 men with primary infertility.
PMID: 39267058
BMC Med Genomics Β· 2024
0.90
3
Novel mutations in DNAH17 cause sperm flagellum defects and their influence on ICSI outcome.
PMID: 37574497
J Assist Reprod Genet Β· 2023
0.80
4
Whole-exome sequencing study of hypospadias.
PMID: 37168556
iScience Β· 2023
0.70
5
Homozygous
PMID: 39245651
Zool Res Β· 2024
0.60