SPANXN3: Sperm Protein Associated with the Nucleus on the X Chromosome N3

A testis-specific cancer/testis antigen with potential roles in spermatogenesis and tumor immunity

Gene Information Card

Symbol SPANXN3
Full Name SPANX family member N3
Gene Type protein-coding
Chromosomal Location Xq27.3
NCBI Gene ID 100132288 ncbi.nlm.nih.gov/gene/100132288
Ensembl ID ENSG00000283041
UniProt ID A6NGU5
OMIM ID Not available
HGNC ID 37208
Aliases SPANX-N3, SPANX family member N3

Description

SPANXN3 is a member of the SPANX (sperm protein associated with the nucleus on the X chromosome) family, located on chromosome Xq27.3. This gene is predominantly expressed in testis and is classified as a cancer/testis antigen (CTA). CTAs are normally restricted to male germ cells but can be aberrantly expressed in various cancers, making them attractive targets for immunotherapy. SPANXN3 is part of a multi-gene family that arose through duplication events on the X chromosome. Its exact function is not fully characterized, but it is believed to play a role in spermatogenesis, particularly in sperm nuclear structure and chromatin remodeling. Due to its testis-restricted expression and potential upregulation in tumors, SPANXN3 is being investigated as a biomarker and immunotherapeutic target.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Cancer (various types) Aberrant expression in tumors; potential as a cancer/testis antigen triggering immune response Inferred from family members; direct evidence limited

Expression Profile

Tissue Expression
Tissue nTPM level
Testis Not available High (based on RNA-seq data from GTEx, though specific nTPM not provided)
Cell Line Expression
Cell Line nTPM Notes
No specific cell line data available Not available No data
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
No curated variants Not available Not available No data
Mutation functional classification

Loss of Function (LOF)

No data

Gain of Function (GOF)

No data

Dominant Negative (DN)

No data

Gene Ontology (GO)

• nucleus • sperm chromatin
• DNA binding

Pathways

• Spermatogenesis
• Cancer/testis antigen pathway

Protein Summary

The SPANXN3 protein is a small, basic protein localized to the nucleus of sperm cells. It contains a conserved SPANX domain and is thought to interact with DNA or chromatin. Its expression is tightly regulated during spermatogenesis, and it may be involved in the compaction of sperm chromatin. In cancer, its aberrant expression could lead to immune recognition, as it is not normally present in adult somatic tissues.

Related Products

Product name Cat.No. Species Gene ID
SPANXN3 Knockout HEK293 Cell Line EDJ-KQ9491 Human 139067 Details Get a Quote
SPANXN3 Knockout HeLa Cell Line EDJ-KQ58403 Human 139067 Details Get a Quote
SPANXN3 Knockout A-549 Cell Line EDJ-KQ66892 Human 139067 Details Get a Quote
SPANXN3 Knockout HCT 116 Cell Line EDJ-KQ75294 Human 139067 Details Get a Quote
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