SPATA24
Spermatogenesis Associated 24
Gene Information Card
| Symbol | SPATA24 |
|---|---|
| Full Name | Spermatogenesis Associated 24 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q31.2 |
| NCBI Gene ID | 100506334 ncbi.nlm.nih.gov/gene/100506334 |
| Ensembl ID | ENSG00000203710 |
| UniProt ID | A0A1B0GTV5 |
| OMIM ID | 618816 |
| HGNC ID | 37244 |
| Aliases | C5orf47, SPATA24 |
Description
SPATA24 (Spermatogenesis Associated 24) is a protein-coding gene located on chromosome 5q31.2. It is primarily expressed in the testis and is involved in spermatogenesis. The encoded protein localizes to the acrosome and is thought to play a role in acrosome biogenesis and sperm head formation. Mutations in SPATA24 have been associated with male infertility due to spermatogenic failure.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spermatogenic failure 38 | Loss of function leads to defective acrosome formation and impaired sperm motility | OMIM #618816; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Fallopian tube | 0.5 | Low |
| Prostate | 0.3 | Low |
| Other tissues | <0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Seminoma cell line (TCam-2) | 15.2 | Testicular germ cell tumor model |
| HEK293 | 0.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.154C>T (p.Arg52*) | Nonsense | Rare | Premature stop, loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that disrupt protein expression or acrosome localization lead to loss of function and spermatogenic failure.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • spermatogenesis | • acrosome assembly |
| • sperm head formation | • protein binding |
Pathways
• Spermatogenesis
Protein Summary
The SPATA24 protein is a 152-amino acid polypeptide with no characterized domains. It is localized to the acrosome of developing spermatids and is essential for acrosome biogenesis. The protein may interact with other acrosomal components to facilitate vesicle fusion and sperm head shaping.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPATA24 Knockout HEK293 Cell Line | EDJ-KQ5071 | Human | 202051 | 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 |
