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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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DNAH8
dynein axonemal heavy chain 8
Chromosome 6 Β· 6p21.2
NCBI Gene: 1769Ensembl: ENSG00000124721.18HGNC: HGNC:2952UniProt: A0A075B6F3
32PubMed Papers
21Diseases
0Drugs
156Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
microtubule motor activitysperm flagellumaxonemesperm midpiecespermatogenic failure 46primary ciliary dyskinesiadiabetes mellitusinherited obesity
✦AI Summary

DNAH8 encodes a dynein axonemal heavy chain that functions as a force-generating component of outer dynein arms (ODAs) in sperm flagella 1. It produces force toward minus ends of microtubules through ATPase activity, with the power stroke occurring upon ADP release 1. DNAH8 is essential for sperm flagellar assembly and motility 1. Bi-allelic DNAH8 variants cause multiple morphological abnormalities of the sperm flagella (MMAF), a severe asthenoteratozoospermia characterized by immotile spermatozoa with malformed flagella 12. Loss-of-function mutations lead to absent or markedly reduced DNAH8 staining and reduced expression of associated protein DNAH17 13. Electron microscopy reveals highly aberrant sperm flagellar ultrastructure in affected individuals 1. DNAH8 variants are identified in approximately 2.2% of MMAF-affected men 1 and contribute to spermatogenic failure 46 4. Dnah8-knockout mice exhibit typical MMAF phenotypes and sterility 1. Clinically, intracytoplasmic sperm injection using affected spermatozoa achieves successful pregnancy outcomes, bypassing the flagellar dysfunction 15. Additionally, DNAH8 variants are enriched in hypospadias cases, with Dnah8 knockout mice showing decreased testosterone levels affecting urethral development 6.

Sources cited
1
DNAH8 is a dynein axonemal heavy chain component producing force toward microtubules through ATPase activity; essential for sperm flagellar formation and motility
PMID: 32619401
2
Loss-of-function DNAH8 mutations cause asthenozoospermia with multiple morphological abnormalities of sperm flagella
PMID: 32681648
3
Homozygous frameshift DNAH8 variants cause MMAF with absent DNAH8 and reduced DNAH17 in sperm
PMID: 36308074
4
Compound heterozygous DNAH8 mutations cause MMAF with decreased protein expression and abnormal flagellar ultrastructure; ICSI achieves pregnancy
PMID: 33704367
5
DNAH8 variants identified as causative gene in primary male infertility cohort
PMID: 39267058
6
DNAH8 variants enriched in hypospadias; Dnah8 knockout mice show decreased testosterone affecting urethral development
PMID: 37168556
7
DNAH8 variants detected in primary ciliary dyskinesia screening with variable ciliary ultrastructure findings
PMID: 37998386
Disease Associationsβ“˜21
spermatogenic failure 46Open Targets
0.72Strong
primary ciliary dyskinesiaOpen Targets
0.57Moderate
diabetes mellitusOpen Targets
0.38Weak
inherited obesityOpen Targets
0.34Weak
pericarditisOpen Targets
0.29Weak
type 1 diabetes nephropathyOpen Targets
0.29Weak
ovarian neoplasmOpen Targets
0.25Weak
placenta praeviaOpen Targets
0.22Weak
Tietze syndromeOpen Targets
0.22Weak
obesityOpen Targets
0.20Weak
abscessOpen Targets
0.19Weak
Genu varumOpen Targets
0.19Weak
ciliopathyOpen Targets
0.18Weak
sialadenitisOpen Targets
0.18Weak
Genu valgumOpen Targets
0.17Weak
cellulitisOpen Targets
0.17Weak
tympanic membrane diseaseOpen Targets
0.16Weak
morbid obesityOpen Targets
0.16Weak
type 2 diabetes mellitusOpen Targets
0.14Weak
overnutritionOpen Targets
0.14Weak
Spermatogenic failure 46UniProt
Pathogenic Variants156
NM_001206927.2(DNAH8):c.12841C>T (p.Arg4281Ter)Pathogenic
not provided|Primary ciliary dyskinesia
β˜…β˜…β˜†β˜†2026β†’ Residue 4281
NM_001206927.2(DNAH8):c.11563+1G>TLikely pathogenic
Primary ciliary dyskinesia
β˜…β˜…β˜†β˜†2026
NM_001206927.2(DNAH8):c.8632C>T (p.Arg2878Ter)Pathogenic
Primary ciliary dyskinesia|Inherited obesity
β˜…β˜…β˜†β˜†2025β†’ Residue 2878
NM_001206927.2(DNAH8):c.3483_3489del (p.Thr1162fs)Pathogenic
Primary ciliary dyskinesia|Spermatogenic failure 46|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 1162
NM_001206927.2(DNAH8):c.10963-1G>ALikely pathogenic
Primary ciliary dyskinesia|Spermatogenic failure 46
β˜…β˜…β˜†β˜†2025
NM_001206927.2(DNAH8):c.3268C>T (p.Arg1090Ter)Pathogenic
Primary ciliary dyskinesia|Spermatogenic failure 46
β˜…β˜…β˜†β˜†2025β†’ Residue 1090
NM_001206927.2(DNAH8):c.2664+2T>CLikely pathogenic
Primary ciliary dyskinesia|Spermatogenic failure 46
β˜…β˜…β˜†β˜†2024
NM_001206927.2(DNAH8):c.11714del (p.Gly3905fs)Pathogenic
DNAH8-related disorder|Primary ciliary dyskinesia
β˜…β˜…β˜†β˜†2024β†’ Residue 3905
NM_001206927.2(DNAH8):c.619C>T (p.Arg207Ter)Pathogenic
Primary ciliary dyskinesia|Spermatogenic failure 46
β˜…β˜…β˜†β˜†2024β†’ Residue 207
NM_001206927.2(DNAH8):c.9194+1G>ALikely pathogenic
Primary ciliary dyskinesia|DNAH8-related disorder
β˜…β˜†β˜†β˜†2026
NM_001206927.2(DNAH8):c.10791-2A>GLikely pathogenic
Primary ciliary dyskinesia
β˜…β˜†β˜†β˜†2026
NM_001206927.2(DNAH8):c.6131+1G>ALikely pathogenic
Primary ciliary dyskinesia
β˜…β˜†β˜†β˜†2026
NM_001206927.2(DNAH8):c.9296del (p.Ile3099fs)Pathogenic
Primary ciliary dyskinesia
β˜…β˜†β˜†β˜†2026β†’ Residue 3099
NM_001206927.2(DNAH8):c.7834_7852del (p.Tyr2612fs)Pathogenic
Primary ciliary dyskinesia
β˜…β˜†β˜†β˜†2026β†’ Residue 2612
NM_001206927.2(DNAH8):c.5005G>T (p.Glu1669Ter)Pathogenic
Primary ciliary dyskinesia
β˜…β˜†β˜†β˜†2026β†’ Residue 1669
NM_001206927.2(DNAH8):c.13214+1G>ALikely pathogenic
Primary ciliary dyskinesia
β˜…β˜†β˜†β˜†2026
NM_001206927.2(DNAH8):c.4486C>T (p.Gln1496Ter)Pathogenic
Primary ciliary dyskinesia
β˜…β˜†β˜†β˜†2026β†’ Residue 1496
NM_001206927.2(DNAH8):c.5719_5729del (p.His1907fs)Pathogenic
Primary ciliary dyskinesia
β˜…β˜†β˜†β˜†2025β†’ Residue 1907
NM_001206927.2(DNAH8):c.6323C>A (p.Ser2108Ter)Pathogenic
Primary ciliary dyskinesia
β˜…β˜†β˜†β˜†2025β†’ Residue 2108
NM_001206927.2(DNAH8):c.11563+1G>ALikely pathogenic
Primary ciliary dyskinesia
β˜…β˜†β˜†β˜†2025
View on ClinVar β†—
Related Genes
DNAI1Protein interaction98%DNAI2Protein interaction98%CFAP70Protein interaction92%DNAH1Protein interaction87%NME8Protein interaction83%DNAI4Protein interaction83%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
43%
Brain
35%
Ovary
27%
Liver
16%
Heart
0%
Gene Interaction Network
Click a node to explore
DNAH8DNAI1DNAI2CFAP70DNAH1NME8DNAI4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q8IU65
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.69LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.62 [0.55–0.69]
RankingsWhere DNAH8 stands among ~20K protein-coding genes
  • #11,499of 20,598
    Most Researched32
  • #486of 5,498
    Most Pathogenic Variants156 Β· top 10%
  • #5,235of 17,882
    Most Constrained (LOEUF)0.69
Genes detectedDNAH8
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Whole exome sequencing analysis of 167 men with primary infertility.
PMID: 39267058
BMC Med Genomics Β· 2024
1.00
2
Ciliary Ultrastructure Assessed by Transmission Electron Microscopy in Adults with Bronchiectasis and Suspected Primary Ciliary Dyskinesia but Inconclusive Genotype.
PMID: 37998386
Cells Β· 2023
0.90
3
Whole-exome sequencing study of hypospadias.
PMID: 37168556
iScience Β· 2023
0.80
4
Bi-allelic DNAH8 Variants Lead to Multiple Morphological Abnormalities of the Sperm Flagella and Primary Male Infertility.
PMID: 32619401
Am J Hum Genet Β· 2020
0.70
5
Loss-of-function mutation in DNAH8 induces asthenoteratospermia associated with multiple morphological abnormalities of the sperm flagella.
PMID: 32681648
Clin Genet Β· 2020
0.60