SPAG9 (Sperm Associated Antigen 9)
A scaffold protein involved in JNK signaling and ciliogenesis, with roles in spermatogenesis and cancer.
Gene Information Card
| Symbol | SPAG9 |
|---|---|
| Full Name | Sperm Associated Antigen 9 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q21.33 |
| NCBI Gene ID | 9083 ncbi.nlm.nih.gov/gene/9083 |
| Ensembl ID | ENSG00000108298 |
| UniProt ID | O60271 |
| OMIM ID | 605731 |
| HGNC ID | 11213 |
| Aliases | JIP4, JLP, FLJ14007, FLJ31434 |
Description
SPAG9 (sperm associated antigen 9) encodes a scaffold protein that interacts with mitogen-activated protein kinase (MAPK) components, particularly c-Jun N-terminal kinase (JNK), and is involved in JNK signaling, ciliogenesis, and spermatogenesis. The protein is also implicated in cancer progression and metastasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Overexpression of SPAG9 promotes tumor growth, invasion, and metastasis through JNK pathway activation and epithelial-mesenchymal transition (EMT). | Multiple studies (e.g., NCBI PubMed) |
| Male infertility | SPAG9 is essential for sperm-egg fusion; mutations or altered expression can impair spermatogenesis. | OMIM #605731 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 48.6 | High |
| Kidney | 12.3 | Medium |
| Brain | 8.5 | Medium |
| Lung | 6.2 | Low |
| Liver | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical cancer cell line |
| A549 | 10.8 | Lung cancer cell line |
| MCF7 | 8.4 | Breast cancer cell line |
| HEK293 | 6.7 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | <0.1% | Unknown functional impact |
| c.567_568insA (p.Glu190fs) | Frameshift | <0.1% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations leading to premature stop codons are likely loss-of-function.
Gain of Function (GOF)
Not well characterized; overexpression in cancer suggests potential gain-of-function.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• JNK cascade (MAPK signaling pathway)
• Ciliogenesis
• Spermatogenesis
Protein Summary
SPAG9 (also known as JIP4) is a 130 kDa scaffold protein that binds to JNK, MAP2K7, and MAP3K10, facilitating JNK activation. It localizes to the centrosome and cilium, playing a role in ciliogenesis. In testis, it is critical for sperm-egg fusion. Overexpression in various cancers correlates with poor prognosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPAG9 Knockout HEK293 Cell Line | EDJ-KQ2926 | Human | 9043 | Details Get a Quote |
| SPAG9 Knockout A-549 Cell Line | EDJ-KQ24028 | Human | 9043 | Details Get a Quote |
| SPAG9 Knockout HeLa Cell Line | EDJ-KQ24030 | Human | 9043 | Details Get a Quote |
| SPAG9 Knockout HCT 116 Cell Line | EDJ-KQ22660 | Human | 9043 | Details Get a Quote |
