SPATA32 (Spermatogenesis Associated 32) Gene: Function, Expression, and Disease Relevance
A comprehensive overview of the SPATA32 gene, including its genomic context, protein function, tissue expression, and potential implications in disease.
Gene Information Card
| Symbol | SPATA32 |
|---|---|
| Full Name | spermatogenesis associated 32 |
| Gene Type | protein coding |
| Chromosomal Location | 17q21.31 |
| NCBI Gene ID | 124044 ncbi.nlm.nih.gov/gene/124044 |
| Ensembl ID | ENSG00000141376 |
| UniProt ID | Q96LK0 |
| OMIM ID | 615841 |
| HGNC ID | 26251 |
| Aliases | NYD-SP27, C17orf51 |
Description
SPATA32 (spermatogenesis associated 32) is a protein-coding gene located on chromosome 17q21.31. It encodes a protein that is predominantly expressed in the testis and is implicated in spermatogenesis. The gene is also known by the aliases NYD-SP27 and C17orf51. SPATA32 has been studied for its role in male fertility and has been observed to be differentially expressed in certain cancers, suggesting potential involvement in tumor biology.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility | SPATA32 is involved in spermatogenesis; altered expression may disrupt sperm production. | Expression studies in testis; OMIM entry 615841. |
| Cancer (various) | Differential expression in tumors; potential role in cell proliferation or apoptosis. | COSMIC mutation data and expression profiling in cancer cell lines. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | High (nTPM ~ 100) | High expression, consistent with role in spermatogenesis. |
| Fallopian tube | Low (nTPM ~ 5) | Low expression. |
| Other tissues | Very low or not detected | Minimal expression in most somatic tissues. |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | Low | Low expression in cervical cancer cell line. |
| A549 | Low | Low expression in lung cancer cell line. |
| MCF7 | Low | Low expression in breast cancer cell line. |
| Testis-derived cell lines (e.g., NT2/D1) | Moderate | Higher expression in testicular carcinoma cell line. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | Missense | Rare (not in gnomAD) | Potential loss of start codon, affecting translation. |
| c.100C>T (p.Arg34Trp) | Missense | Rare (not in gnomAD) | May affect protein stability or function. |
| c.250G>A (p.Asp84Asn) | Missense | Rare (not in gnomAD) | Unknown effect; possibly benign. |
Mutation functional classification
Loss of Function (LOF)
Mutations that disrupt the start codon or introduce premature stop codons could lead to loss of protein function, potentially impairing spermatogenesis.
Gain of Function (GOF)
No evidence for gain-of-function mutations in SPATA32.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • spermatogenesis | • male gamete generation |
| • protein binding |
Pathways
• Spermatogenesis (KEGG: hsa04114)
• Reproductive system development
Protein Summary
The SPATA32 protein is a small, uncharacterized protein of 232 amino acids. It contains no known functional domains, but its testis-specific expression suggests a role in sperm development. It may interact with other proteins involved in spermatogenesis, but detailed molecular functions remain to be elucidated.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPATA32 Knockout HEK293 Cell Line | EDJ-KQ7891 | Human | 124783 | Details Get a Quote |
| SPATA32 Knockout HeLa Cell Line | EDJ-KQ58140 | Human | 124783 | Details Get a Quote |
| SPATA32 Knockout A-549 Cell Line | EDJ-KQ66626 | Human | 124783 | Details Get a Quote |
| SPATA32 Knockout HCT 116 Cell Line | EDJ-KQ75043 | Human | 124783 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
