GGN (Gametogenetin) Gene
A gene encoding a protein involved in spermatogenesis and male fertility.
Gene Information Card
| Symbol | GGN |
|---|---|
| Full Name | Gametogenetin |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.2 |
| NCBI Gene ID | 199720 ncbi.nlm.nih.gov/gene/199720 |
| Ensembl ID | ENSG00000167552 |
| UniProt ID | Q86Y25 |
| OMIM ID | 609274 |
| HGNC ID | 4250 |
| Aliases | Gametogenetin, GGN1 |
Description
The GGN gene encodes gametogenetin, a protein predominantly expressed in testis and involved in spermatogenesis. It interacts with other germ cell-specific proteins to regulate male gamete development. Mutations or altered expression may contribute to male infertility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility | Disruption of spermatogenesis due to GGN deficiency | Animal models; limited human data (OMIM 609274) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 27.8 | High |
| Fallopian tube | 0.6 | Low |
| Prostate | 0.4 | Low |
| Other tissues | <0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Spermatocytes | High | Germ cell-specific expression |
| Sertoli cells | Low | Supporting cells |
| HEK293 | Not detected | Non-germline cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Potential loss of start codon; functional impact unknown |
| c.214C>T (p.Arg72*) | Nonsense | Rare | Premature truncation; likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants predicted to cause loss of gametogenetin function, impairing spermatogenesis.
Gain of Function (GOF)
No evidence of gain-of-function mutations in GGN.
Dominant Negative (DN)
Not reported for GGN.
View complete mutation data：
Gene Ontology (GO)
| • spermatogenesis (GO:0007283) | • protein binding (GO:0005515) |
| • nucleus (GO:0005634) |
Pathways
• Spermatogenesis (Reactome: R-HSA-1500931)
Protein Summary
Gametogenetin is a 220-amino acid protein localized to the nucleus of germ cells. It contains a coiled-coil domain and interacts with other spermatogenesis-related proteins such as GGNBP1 and GGNBP2. Its precise molecular function remains under investigation, but it is essential for normal sperm development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GGN Knockout HEK293 Cell Line | EDJ-KQ940 | Human | 199720 | Details Get a Quote |
| GGNBP2 Knockout HEK293 Cell Line | EDJ-KQ13588 | Human | 79893 | Details Get a Quote |
| GGNBP2 Knockout A-549 Cell Line | EDJ-KQ43254 | Human | 79893 | Details Get a Quote |
| GGNBP2 Knockout HCT 116 Cell Line | EDJ-KQ43255 | Human | 79893 | Details Get a Quote |
| GGNBP2 Knockout HeLa Cell Line | EDJ-KQ43256 | Human | 79893 | Details Get a Quote |
| GGN Knockout HeLa Cell Line | EDJ-KQ58987 | Human | 199720 | Details Get a Quote |
| GGN Knockout A-549 Cell Line | EDJ-KQ67471 | Human | 199720 | Details Get a Quote |
| GGN Knockout HCT 116 Cell Line | EDJ-KQ75867 | Human | 199720 | Details Get a Quote |
