SPATA33: Spermatogenesis Associated 33
A testis-specific gene involved in spermatogenesis and male fertility
Gene Information Card
| Symbol | SPATA33 |
|---|---|
| Full Name | Spermatogenesis Associated 33 |
| Gene Type | protein-coding |
| Chromosomal Location | 16q24.3 |
| NCBI Gene ID | 124044 ncbi.nlm.nih.gov/gene/124044 |
| Ensembl ID | ENSG00000140937 |
| UniProt ID | Q8N6T3 |
| OMIM ID | 615854 |
| HGNC ID | 26251 |
| Aliases | C16orf55, FLJ32743 |
Description
SPATA33 (Spermatogenesis Associated 33) is a protein-coding gene located on chromosome 16q24.3. It is predominantly expressed in the testis and plays a role in spermatogenesis. The encoded protein is involved in male germ cell development and may contribute to male fertility. Mutations in SPATA33 have been associated with non-obstructive azoospermia and male infertility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Non-obstructive azoospermia | Loss of SPATA33 function disrupts spermatogenesis, leading to absence of sperm in semen | ClinVar, literature |
| Male infertility | SPATA33 variants impair germ cell development, reducing fertility | OMIM, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 48.5 | High |
| Fallopian tube | 1.2 | Low |
| Prostate | 0.8 | Low |
| Other tissues | <0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Seminoma cell line (TCam-2) | 15.3 | Testicular germ cell tumor model |
| Embryonic stem cells (H1) | 0.2 | Low expression |
| HeLa | 0.1 | Not significant |
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.202C>T (p.Arg68*) | nonsense | Rare | Premature stop, loss of function |
| c.355G>A (p.Gly119Ser) | missense | Rare | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss variants lead to truncated or absent protein, impairing spermatogenesis.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • spermatogenesis (GO:0007283) | • nucleus (GO:0005634) |
| • cytoplasm (GO:0005737) |
Pathways
• Spermatogenesis (Reactome: R-HSA-418346)
Protein Summary
The SPATA33 protein is 233 amino acids long and contains a conserved domain of unknown function (DUF). It is localized to the nucleus and cytoplasm of spermatogenic cells. The protein is thought to regulate gene expression or cell cycle progression during male germ cell development. Structural predictions suggest it may interact with other spermatogenesis-associated proteins.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPATA33 Knockout HEK293 Cell Line | EDJ-KQ8430 | Human | 124045 | Details Get a Quote |
| SPATA33 Knockout HeLa Cell Line | EDJ-KQ33203 | Human | 124045 | Details Get a Quote |
| SPATA33 Knockout A-549 Cell Line | EDJ-KQ34536 | Human | 124045 | Details Get a Quote |
| SPATA33 Knockout HCT 116 Cell Line | EDJ-KQ34537 | Human | 124045 | Details Get a Quote |
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