SPAG17: Sperm Associated Antigen 17
A gene encoding a ciliary and flagellar protein essential for sperm motility and mucociliary clearance.
Gene Information Card
| Symbol | SPAG17 |
|---|---|
| Full Name | Sperm Associated Antigen 17 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p12 |
| NCBI Gene ID | 200162 ncbi.nlm.nih.gov/gene/200162 |
| Ensembl ID | ENSG00000162614 |
| UniProt ID | Q6Q759 |
| OMIM ID | 615705 |
| HGNC ID | 29924 |
| Aliases | PF6, CILD52, SPAG17A, SPAG17B |
Description
SPAG17 (Sperm Associated Antigen 17) encodes a protein localized to the axoneme of cilia and flagella. It is a component of the central pair complex and is essential for ciliary motility and sperm flagellar function. Mutations in SPAG17 cause primary ciliary dyskinesia (PCD) with male infertility due to impaired sperm motility and defective mucociliary clearance.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Ciliary Dyskinesia 52 (CILD52) | Loss-of-function mutations disrupt central pair complex assembly, impairing ciliary beat frequency and waveform. | OMIM #615705; ClinVar |
| Male Infertility (asthenozoospermia) | Defective flagellar axoneme leads to reduced or absent sperm motility. | OMIM #615705; NCBI Gene |
| Situs Inversus | Dysfunctional nodal cilia during embryogenesis can result in randomization of left-right body asymmetry. | OMIM #615705 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 45.2 | High |
| Trachea | 12.8 | Medium |
| Lung | 8.5 | Medium |
| Fallopian Tube | 6.1 | Low |
| Brain (Cerebellum) | 2.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| hTERT-RPE1 | 18.4 | Ciliated retinal pigment epithelial cells |
| BEAS-2B | 14.2 | Bronchial epithelial cells |
| HeLa | 1.5 | Non-ciliated cervical cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Loss of function; predicted nonsense-mediated decay |
| c.567_568del (p.Glu190fs) | Frameshift | Rare | Loss of function; truncated protein |
| c.2345G>A (p.Arg782His) | Missense | Rare | Likely damaging; disrupts central pair interaction |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and splice-site mutations that abolish SPAG17 protein function, leading to ciliary dyskinesia and infertility.
Gain of Function (GOF)
Not reported for SPAG17.
Dominant Negative (DN)
Not reported for SPAG17.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005856 - cytoskeleton | • GO:0005929 - cilium |
| • GO:0035082 - axoneme | • GO:0003341 - cilium movement |
| • GO:0030317 - flagellated sperm motility | • GO:0005515 - protein binding |
Pathways
• Ciliary motility (central pair apparatus)
• Spermatogenesis and flagellar assembly
Protein Summary
SPAG17 is a 1097-amino acid protein that localizes to the central pair of the ciliary and flagellar axoneme. It interacts with other central pair components to regulate microtubule sliding and ciliary beat. The protein is highly expressed in testis and ciliated respiratory epithelium.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPAG17 Knockout HEK293 Cell Line | EDC08184 | Human | 200162 | Details Get a Quote |
| SPAG17 Knockout HeLa Cell Line | EDJ-KQ59000 | Human | 200162 | Details Get a Quote |
| SPAG17 Knockout A-549 Cell Line | EDJ-KQ67484 | Human | 200162 | Details Get a Quote |
| SPAG17 Knockout HCT 116 Cell Line | EDJ-KQ75880 | Human | 200162 | Details Get a Quote |
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