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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ODF2
outer dense fiber of sperm tails 2
Chromosome 9 Β· 9q34.11
NCBI Gene: 4957Ensembl: ENSG00000136811.17HGNC: HGNC:8114UniProt: A0A024R8A5
74PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
nucleuscentrioleprotein bindingcentriole-centriole cohesionliver diseaseazoospermiaMale infertility with spermatogenesis disorder due to single gene mutationspermatogenic failure 83
✦AI Summary

ODF2 encodes a major structural protein component of the outer dense fibers (ODFs) in mammalian sperm tails, which are filamentous structures located outside the axoneme in the midpiece and principal piece regions 1. The protein functions as a cytoskeletal component required for flagellar beating and stability during sperm transport 2. ODF2 interacts specifically with ODF1 through leucine zipper-mediated interactions during ODF assembly along the sperm axoneme 1. Haploinsufficiency of ODF2 causes a distinct form of decapitated and decaudated spermatozoa (DDS) characterized by sperm neck-midpiece separation, leading to the formation of immotile headneck sperm cells and motile but directionless neckless tails 2. Reduced ODF2 expression is associated with decreased sperm motility in asthenospermia patients, with both mRNA and protein levels significantly decreased in moderate to severe cases 3. The protein is regulated post-transcriptionally by microRNA-23a/b-3p, and its downregulation correlates with oligoasthenozoospermia 4. ODF2 serves as a fertility biomarker in breeding bulls, with high protein levels correlating with superior fertility outcomes 5. Age-related studies show ODF2 expression peaks in late adult males but declines with advanced age, potentially contributing to age-associated fertility decline 6.

Sources cited
1
ODF2 is a major outer dense fiber protein that interacts with ODF1 through leucine zippers during assembly along sperm axoneme
PMID: 10072582
2
ODF2 is required for flagellar beating and stability; haploinsufficiency causes decapitated and decaudated spermatozoa with neck-midpiece separation
PMID: 31582806
3
ODF2 mRNA and protein expression are decreased in moderate to severe asthenospermia patients and correlate with sperm motility
PMID: 29738166
4
ODF2 is regulated by microRNA-23a/b-3p and its downregulation is associated with oligoasthenozoospermia
PMID: 33784796
5
ODF2 protein levels serve as a fertility biomarker in breeding bulls, correlating significantly with fertility outcomes
PMID: 34762184
6
ODF2 expression shows age-related changes, peaking in late adult males and declining with advanced age
PMID: 40649876
Disease Associationsβ“˜20
liver diseaseOpen Targets
0.12Weak
azoospermiaOpen Targets
0.11Weak
Male infertility with spermatogenesis disorder due to single gene mutationOpen Targets
0.09Suggestive
spermatogenic failure 83Open Targets
0.09Suggestive
spermatogenic failure 19Open Targets
0.09Suggestive
spermatogenic failure 43Open Targets
0.09Suggestive
spermatogenic failure 45Open Targets
0.09Suggestive
spermatogenic failure 49Open Targets
0.09Suggestive
spermatogenic failure 82Open Targets
0.09Suggestive
spermatogenic failure 18Open Targets
0.08Suggestive
spermatogenic failure 27Open Targets
0.08Suggestive
spermatogenic failure 46Open Targets
0.08Suggestive
spermatogenic failure, X-linked, 5Open Targets
0.08Suggestive
spermatogenic failure 72Open Targets
0.08Suggestive
spermatogenic failure 10Open Targets
0.08Suggestive
spermatogenic failure 11Open Targets
0.08Suggestive
spermatogenic failure 16Open Targets
0.08Suggestive
spermatogenic failure 21Open Targets
0.08Suggestive
spermatogenic failure 65Open Targets
0.08Suggestive
spermatogenic failure 58Open Targets
0.08Suggestive
Pathogenic Variants1
NM_001351578.2(ODF2):c.788G>A (p.Arg263Lys)Likely pathogenic
ODF2-related disorder
β˜…β˜†β˜†β˜†2026β†’ Residue 263
View on ClinVar β†—
Related Genes
RAB3IPProtein interaction100%SCLT1Protein interaction100%FBF1Protein interaction99%CEP89Protein interaction98%EVI5Protein interaction94%KIF2AProtein interaction93%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
61%
Ovary
46%
Liver
43%
Lung
42%
Heart
40%
Gene Interaction Network
Click a node to explore
ODF2RAB3IPSCLT1FBF1CEP89EVI5KIF2A
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt Q5BJF6
View on AlphaFold β†—
RankingsWhere ODF2 stands among ~20K protein-coding genes
  • #6,418of 20,598
    Most Researched74
  • #4,982of 5,498
    Most Pathogenic Variants1
Genes detectedODF2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Human outer dense fiber gene, ODF2, localizes to chromosome 9q34.
PMID: 10072582
Cytogenet Cell Genet Β· 1998
1.00
2
Odf2 haploinsufficiency causes a new type of decapitated and decaudated spermatozoa, Odf2-DDS, in mice.
PMID: 31582806
Sci Rep Β· 2019
0.90
3
Deciphering endometrial dysfunction in patients with uterine myoma using endometrial organoids: a pilot study.
PMID: 39303426
Reprod Biomed Online Β· 2024
0.80
4
Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella.
PMID: 30683861
Nat Commun Β· 2019
0.70
5
[Expressions of ODF2 mRNA and protein are down-regulated in the sperm of asthenospermia patients].
PMID: 29738166
Zhonghua Nan Ke Xue Β· 2017
0.60