ODF2L
Outer Dense Fiber of Sperm Tails 2 Like
Gene Information Card
| Symbol | ODF2L |
|---|---|
| Full Name | Outer Dense Fiber of Sperm Tails 2 Like |
| Gene Type | Protein coding |
| Chromosomal Location | 1p22.3 |
| NCBI Gene ID | 57451 ncbi.nlm.nih.gov/gene/57451 |
| Ensembl ID | ENSG00000117525 |
| UniProt ID | Q5T4S7 |
| OMIM ID | 617593 |
| HGNC ID | 28793 |
| Aliases | ODF2B, ODF2-like, MGC12966 |
Description
ODF2L (Outer Dense Fiber of Sperm Tails 2 Like) is a protein-coding gene located on chromosome 1p22.3. It encodes a protein that is similar to outer dense fiber protein 2, a component of the sperm tail cytoskeleton. ODF2L is involved in ciliary and flagellar structure and function, and may play a role in spermatogenesis and ciliary motility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary ciliary dyskinesia | Defects in ciliary structure/function due to ODF2L mutations | Limited evidence; case reports in ClinVar |
| Male infertility | Sperm tail abnormalities and impaired motility | Observed in animal models; human data sparse |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 5.2 | Low |
| Lung | 3.8 | Low |
| Kidney | 2.1 | Low |
| Liver | 1.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 4.5 | Moderate expression |
| HEK293 | 3.2 | Low expression |
| A549 | 2.8 | Low expression |
| K562 | 1.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.01% (gnomAD) | Unknown; predicted benign |
| c.205G>A (p.Gly69Ser) | Missense | <0.01% (gnomAD) | Unknown; predicted possibly damaging |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar or COSMIC.
Gain of Function (GOF)
No gain-of-function mutations documented.
Dominant Negative (DN)
No dominant negative effects described.
View complete mutation data：
Gene Ontology (GO)
| • Cilium assembly | • Sperm flagellum |
| • Microtubule cytoskeleton organization | • Cell projection organization |
Pathways
• Ciliopathy-related pathways
• Spermatogenesis
Protein Summary
The ODF2L protein is a 584-amino acid polypeptide that localizes to the sperm tail outer dense fibers and ciliary axonemes. It contains a coiled-coil domain and interacts with other cytoskeletal proteins to maintain flagellar and ciliary integrity. Its expression is highest in testis, consistent with a role in sperm motility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ODF2L Knockout HEK293 Cell Line | EDJ-KQ14550 | Human | 57489 | Details Get a Quote |
| ODF2L Knockout A-549 Cell Line | EDJ-KQ44837 | Human | 57489 | Details Get a Quote |
| ODF2L Knockout HCT 116 Cell Line | EDJ-KQ44838 | Human | 57489 | Details Get a Quote |
| ODF2L Knockout HeLa Cell Line | EDJ-KQ44839 | Human | 57489 | Details Get a Quote |
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