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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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DNAH7
dynein axonemal heavy chain 7
Chromosome 2 Β· 2q32.3
NCBI Gene: 56171Ensembl: ENSG00000118997.14HGNC: HGNC:18661UniProt: Q8WXX0
27PubMed Papers
21Diseases
0Drugs
7Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
inner dynein armsperm annulusciliumcilium movementciliary dyskinesia, primary, 50primary ciliary dyskinesiaAbdominal situs inversusSeizure
✦AI Summary

DNAH7 (dynein axonemal heavy chain 7) is a force-generating motor protein essential for ciliary and flagellar motility. As a component of the inner dynein arm (IDA) complex, DNAH7 produces force directed toward the minus ends of microtubules through ATP hydrolysis, with power generation occurring upon ADP release 1. The protein plays critical roles in maintaining axonemal structure and coordinating ciliary beating in respiratory epithelium and sperm flagella. Mechanistically, DNAH7 is a light intermediate chain-binding protein within a partial IDA subspecies 2. Cryo-EM studies reveal that DNAH7 contains an 18-residue insertion that contacts adjacent microtubule protofilaments and uniquely induces microtubule cross-sectional distortions, potentially mediating dynein coordination in axonemes 1. Biallelic loss-of-function DNAH7 variants cause primary ciliary dyskinesia (PCD) and male infertility characterized by asthenozoospermia 3. In infertile men, DNAH7 mutations result in severe loss of inner dynein arms in sperm flagella, accompanied by mitochondrial abnormalities and reduced expression of associated IDA proteins (DNAH3, DNAH6) 43. Clinically, intracytoplasmic sperm injection successfully achieves live birth in DNAH7-deficient patients, enabling reproductive outcomes despite flagellar dysfunction 4. Additionally, DNAH7 variants show potential association with testicular germ cell tumor susceptibility 5.

Sources cited
1
DNAH7 microtubule-binding domain structure, ATP hydrolysis mechanism, and unique ability to distort microtubule geometry
PMID: 31264960
2
Loss-of-function DNAH7 mutations cause male infertility with inner dynein arm loss and mitochondrial abnormalities; ICSI achieves live birth
PMID: 35543642
3
Biallelic DNAH7 loss-of-function variants cause asthenozoospermia via disrupted IDA assembly
PMID: 40810911
4
DNAH7 is part of a partial IDA subspecies; loss affects IDA protein expression including DNAH1 and DNAH7
PMID: 36792588
5
DNAH7 variants identified in male infertility cohort via whole exome sequencing
PMID: 39267058
6
DNAH7 is an IDA heavy chain affected by axonemal ruler defects in primary ciliary dyskinesia
PMID: 39056782
7
DNAH7 identified as novel susceptibility gene for testicular germ cell tumors
PMID: 29761480
8
DNAH7 variants present in PCD diagnostic evaluation using TEM and genetic sequencing
PMID: 37998386
Disease Associationsβ“˜21
ciliary dyskinesia, primary, 50Open Targets
0.59Moderate
primary ciliary dyskinesiaOpen Targets
0.52Moderate
Abdominal situs inversusOpen Targets
0.42Moderate
Abnormal basal ganglia morphologyOpen Targets
0.33Weak
Abnormal muscle toneOpen Targets
0.33Weak
basal ganglia diseaseOpen Targets
0.33Weak
DyspneaOpen Targets
0.33Weak
Hypoplasia of the corpus callosumOpen Targets
0.33Weak
SeizureOpen Targets
0.33Weak
deficiency anemiaOpen Targets
0.26Weak
type 2 diabetes mellitusOpen Targets
0.24Weak
smoking initiationOpen Targets
0.24Weak
ovarian neoplasmOpen Targets
0.22Weak
ovarian dysfunctionOpen Targets
0.21Weak
pneumonitisOpen Targets
0.19Weak
male infertility with azoospermia or oligozoospermia due to single gene mutationOpen Targets
0.12Weak
colorectal carcinomaOpen Targets
0.06Suggestive
placental retentionOpen Targets
0.04Suggestive
preeclampsiaOpen Targets
0.04Suggestive
liver diseaseOpen Targets
0.04Suggestive
Ciliary dyskinesia, primary, 50UniProt
Pathogenic Variants7
NM_018897.3(DNAH7):c.7045_7049delinsC (p.Ser2349fs)Likely pathogenic
Ciliary dyskinesia, primary, 50
β˜…β˜†β˜†β˜†2025β†’ Residue 2349
NM_018897.3(DNAH7):c.4647+1G>APathogenic
Ciliary dyskinesia, primary, 50
β˜…β˜†β˜†β˜†2025
NM_018897.3(DNAH7):c.870-1G>TLikely pathogenic
Ciliary dyskinesia, primary, 50
β˜…β˜†β˜†β˜†2025
NM_018897.3(DNAH7):c.11869-2A>CLikely pathogenic
Ciliary dyskinesia, primary, 50
β˜…β˜†β˜†β˜†2025
NM_018897.3(DNAH7):c.3135dup (p.Ser1046fs)Likely pathogenic
Ciliary dyskinesia, primary, 50
β˜…β˜†β˜†β˜†2025β†’ Residue 1046
NM_018897.3(DNAH7):c.8209G>A (p.Gly2737Ser)Pathogenic
Abdominal situs inversus;Primary ciliary dyskinesia
β˜†β˜†β˜†β˜†2018β†’ Residue 2737
NM_018897.3(DNAH7):c.10753T>C (p.Phe3585Leu)Pathogenic
Abnormal muscle tone;Seizure;Abnormal basal ganglia morphology;Hypoplasia of the corpus callosum;Dyspnea
β˜†β˜†β˜†β˜†β†’ Residue 3585
View on ClinVar β†—
Related Genes
DNAI2Protein interaction98%CFAP70Protein interaction92%DNAH3Protein interaction79%DNAL1Protein interaction79%DNAH5Protein interaction77%DNAI1Protein interaction77%
Tissue Expression6 tissues
Brain
100%
Ovary
49%
Lung
49%
Bone Marrow
43%
Heart
24%
Liver
17%
Gene Interaction Network
Click a node to explore
DNAH7DNAI2CFAP70DNAH3DNAL1DNAH5DNAI1
PROTEIN STRUCTURE
Preparing viewer…
PDB8J07 Β· 4.10 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.96LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.88 [0.81–0.96]
RankingsWhere DNAH7 stands among ~20K protein-coding genes
  • #12,546of 20,598
    Most Researched27
  • #3,257of 5,498
    Most Pathogenic Variants7
  • #9,064of 17,882
    Most Constrained (LOEUF)0.96
Genes detectedDNAH7
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
Loss of function mutation in DNAH7 induces male infertility associated with abnormalities of the sperm flagella and mitochondria in human.
PMID: 35543642
Clin Genet Β· 2022
0.90
3
Primary Ciliary Dyskinesia Associated Disease-Causing Variants in
PMID: 39056782
Cells Β· 2024
0.80
4
Ciliary Ultrastructure Assessed by Transmission Electron Microscopy in Adults with Bronchiectasis and Suspected Primary Ciliary Dyskinesia but Inconclusive Genotype.
PMID: 37998386
Cells Β· 2023
0.70
5
Biallelic loss-of-function variants of DNAH7 cause male infertility associated with asthenozoospermia in humans.
PMID: 40810911
Hum Genet Β· 2025
0.60