SPATA19
Spermatogenesis Associated 19
Gene Information Card
| Symbol | SPATA19 |
|---|---|
| Full Name | Spermatogenesis Associated 19 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q42.2 |
| NCBI Gene ID | 219738 ncbi.nlm.nih.gov/gene/219738 |
| Ensembl ID | ENSG00000143157 |
| UniProt ID | Q5VY80 |
| OMIM ID | 615717 |
| HGNC ID | 33730 |
| Aliases | SPATA19, C1orf56, SPATA19A |
Description
SPATA19 (Spermatogenesis Associated 19) is a protein-coding gene predominantly expressed in the testis. It is involved in spermatogenesis, specifically in the development and maturation of sperm cells. The encoded protein localizes to the mitochondria and may play a role in mitochondrial function during spermatogenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (non-obstructive azoospermia) | Reduced or absent SPATA19 expression may impair spermatogenesis | Limited; case-control studies show lower expression in infertile men |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 32.5 | High |
| Fallopian tube | 0.8 | Low |
| Prostate | 0.5 | Low |
| Ovary | 0.3 | Low |
| Other tissues | <0.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Spermatogonia | Not available | No data in cell lines |
| Testicular cell lines | Not available | No established cell line data |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Unknown | Likely loss of start codon; predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Predicted loss-of-function mutations (e.g., start codon loss) may impair spermatogenesis.
Gain of Function (GOF)
No evidence.
Dominant Negative (DN)
No evidence.
View complete mutation data：
Gene Ontology (GO)
| • spermatogenesis (GO:0007283) | • mitochondrion (GO:0005739) |
| • protein binding (GO:0005515) |
Pathways
• Spermatogenesis (Reactome: R-HSA-418594)
Protein Summary
The SPATA19 protein is a 152-amino acid mitochondrial protein expressed specifically in the testis. It is thought to support mitochondrial function during spermatogenesis, potentially influencing sperm motility and maturation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPATA19 Knockout HEK293 Cell Line | EDJ-KQ8444 | Human | 219938 | Details Get a Quote |
| SPATA19 Knockout HeLa Cell Line | EDJ-KQ59111 | Human | 219938 | Details Get a Quote |
| SPATA19 Knockout A-549 Cell Line | EDJ-KQ67585 | Human | 219938 | Details Get a Quote |
| SPATA19 Knockout HCT 116 Cell Line | EDJ-KQ75976 | Human | 219938 | Details Get a Quote |
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