SPANXN5
Sperm Protein Associated with the Nucleus on the X Chromosome, Family Member N5
Gene Information Card
| Symbol | SPANXN5 |
|---|---|
| Full Name | Sperm Protein Associated with the Nucleus on the X Chromosome, Family Member N5 |
| Gene Type | protein-coding |
| Chromosomal Location | Xq27.3 |
| NCBI Gene ID | 100132891 ncbi.nlm.nih.gov/gene/100132891 |
| Ensembl ID | ENSG00000203814 |
| UniProt ID | Q5JRS4 |
| OMIM ID | 300662 |
| HGNC ID | 37231 |
| Aliases | SPANX-N5, SPANX family member N5 |
Description
SPANXN5 (Sperm Protein Associated with the Nucleus on the X Chromosome, Family Member N5) is a protein-coding gene located on the X chromosome at Xq27.3. It belongs to the SPANX gene family, which encodes cancer/testis antigens predominantly expressed in testis and aberrantly in various cancers. The protein is thought to play a role in spermatogenesis and may be involved in sperm nuclear remodeling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Aberrant expression as cancer/testis antigen; potential immunotherapeutic target | Expression observed in melanoma, lung, and bladder cancers (COSMIC) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Other tissues | <1.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NTERA-2 (embryonal carcinoma) | 8.2 | Testicular cancer cell line |
| A549 (lung carcinoma) | 0.5 | Low expression |
| MCF7 (breast carcinoma) | 0.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | Unknown significance (ClinVar) |
| c.100C>T | synonymous | <0.01% | Likely benign |
Mutation functional classification
Loss of Function (LOF)
No documented loss-of-function variants in ClinVar or COSMIC.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • nucleus | • sperm nucleus |
| • protein binding |
Protein Summary
SPANXN5 is a small protein (approximately 12 kDa) localized to the sperm nucleus. It contains a conserved SPANX domain and is implicated in nuclear condensation during spermatogenesis. As a cancer/testis antigen, it is a target for cancer immunotherapy research.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPANXN5 Knockout HEK293 Cell Line | EDJ-KQ15437 | Human | 494197 | Details Get a Quote |
| SPANXN5 Knockout HeLa Cell Line | EDJ-KQ60481 | Human | 494197 | Details Get a Quote |
| SPANXN5 Knockout A-549 Cell Line | EDJ-KQ68951 | Human | 494197 | Details Get a Quote |
| SPANXN5 Knockout HCT 116 Cell Line | EDJ-KQ77310 | Human | 494197 | Details Get a Quote |
