SPATA2
Spermatogenesis Associated 2: A Key Regulator of NF-κB Signaling and Deubiquitinase Activity
Gene Information Card
| Symbol | SPATA2 |
|---|---|
| Full Name | Spermatogenesis Associated 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 20q13.12 |
| NCBI Gene ID | 9825 ncbi.nlm.nih.gov/gene/9825 |
| Ensembl ID | ENSG00000101204 |
| UniProt ID | Q9UM82 |
| OMIM ID | 609893 |
| HGNC ID | 11220 |
| Aliases | PD1, SPATA2_1, FLJ10154 |
Description
SPATA2 (Spermatogenesis Associated 2) encodes a protein that functions as an adaptor in the NF-κB signaling pathway by recruiting the deubiquitinase CYLD to the TNF receptor complex. It is involved in the regulation of inflammatory responses and cell survival. The gene is expressed in multiple tissues, with highest levels in testis, and has been implicated in cancer and immune-related disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Prostate Cancer | SPATA2 overexpression may promote tumor growth via NF-κB activation. | PMID: 25605248 |
| Colorectal Cancer | SPATA2 expression correlates with poor prognosis and altered immune signaling. | PMID: 30397376 |
| Inflammatory Diseases | SPATA2 modulates TNF-induced inflammation through CYLD recruitment. | PMID: 26642233 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Lymph Node | 12.3 | Medium |
| Spleen | 10.1 | Medium |
| Bone Marrow | 8.7 | Medium |
| Brain | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.4 | High expression in embryonic kidney cells |
| HeLa | 9.8 | Moderate expression in cervical cancer cells |
| K562 | 6.2 | Low expression in leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | 0.01% | Unknown functional impact |
| c.457G>A (p.Gly153Ser) | Missense | 0.005% | Reported in COSMIC as potential passenger mutation |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123) |
| • cytoplasm (GO:0005737) | • cytosol (GO:0005829) |
Pathways
• TNF signaling pathway (Reactome: R-HSA-75893)
• NF-kappaB signaling (KEGG: hsa04064)
Protein Summary
The SPATA2 protein is a 520-amino acid adaptor that contains a PUB domain, which mediates interaction with the deubiquitinase CYLD. It is primarily cytoplasmic and facilitates the recruitment of CYLD to the TNF receptor signaling complex, thereby modulating NF-κB activation and inflammatory responses. SPATA2 is also implicated in spermatogenesis, though its exact role in male fertility remains under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPATA24 Knockout HEK293 Cell Line | EDJ-KQ5071 | Human | 202051 | Details Get a Quote |
| SPATA2 Knockout HEK293 Cell Line | EDJ-KQ6763 | Human | 9825 | Details Get a Quote |
| SPATA2L Knockout HEK293 Cell Line | EDJ-KQ8429 | Human | 124044 | Details Get a Quote |
| SPATA25 Knockout HEK293 Cell Line | EDJ-KQ9176 | Human | 128497 | Details Get a Quote |
| SPATA22 Knockout HEK293 Cell Line | EDJ-KQ10166 | Human | 84690 | Details Get a Quote |
| SPATA20 Knockout HEK293 Cell Line | EDJ-KQ15441 | Human | 64847 | Details Get a Quote |
| SPATA21 Knockout HEK293 Cell Line | EDJ-KQ15442 | Human | 374955 | Details Get a Quote |
| SPATA24 Knockout A-549 Cell Line | EDJ-KQ27995 | Human | 202051 | Details Get a Quote |
| SPATA24 Knockout HCT 116 Cell Line | EDJ-KQ27996 | Human | 202051 | Details Get a Quote |
| SPATA24 Knockout HeLa Cell Line | EDJ-KQ27997 | Human | 202051 | Details Get a Quote |
| SPATA2 Knockout A-549 Cell Line | EDJ-KQ31198 | Human | 9825 | Details Get a Quote |
| SPATA2 Knockout HCT 116 Cell Line | EDJ-KQ31199 | Human | 9825 | Details Get a Quote |
| SPATA2 Knockout HeLa Cell Line | EDJ-KQ31200 | Human | 9825 | Details Get a Quote |
| SPATA2L Knockout A-549 Cell Line | EDJ-KQ34533 | Human | 124044 | Details Get a Quote |
| SPATA2L Knockout HCT 116 Cell Line | EDJ-KQ34534 | Human | 124044 | Details Get a Quote |
