GGNBP2
Gametogenetin Binding Protein 2
Gene Information Card
| Symbol | GGNBP2 |
|---|---|
| Full Name | Gametogenetin Binding Protein 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q12 |
| NCBI Gene ID | 79893 ncbi.nlm.nih.gov/gene/79893 |
| Ensembl ID | ENSG00000141510 |
| UniProt ID | Q9H3C7 |
| OMIM ID | 608985 |
| HGNC ID | 29478 |
| Aliases | DKFZp686O24110, FLJ20032, MGC138290, MGC138291 |
Description
GGNBP2 (Gametogenetin Binding Protein 2) is a protein-coding gene located on chromosome 17q12. It encodes a protein that binds to gametogenetin (GGN) and is involved in spermatogenesis. The gene is expressed predominantly in testis and plays a role in male germ cell development. Mutations in GGNBP2 may be associated with spermatogenic failure and male infertility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spermatogenic failure | Loss of GGNBP2 disrupts spermatogenesis | PMID: 21901789 |
| Male infertility | Impaired binding to GGN affects germ cell development | PMID: 21901789 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | High |
| Brain | 1.2 | Low |
| Liver | 0.8 | Low |
| Kidney | 0.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NTERA-2 (testicular embryonal carcinoma) | 8.3 | High expression |
| HeLa (cervical carcinoma) | 0.9 | Low expression |
| HEK 293 (embryonic kidney) | 0.6 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | 0.01% | Unknown |
| c.100C>T | Nonsense | 0.005% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations predicted to cause premature truncation and loss of protein function.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
No evidence of dominant-negative mutations.
View complete mutation data：
Gene Ontology (GO)
| • spermatogenesis | • protein binding |
| • male gamete generation | • cytoplasm |
Pathways
• Spermatogenesis
Protein Summary
The GGNBP2 protein is 674 amino acids long and localizes to the cytoplasm. It interacts with gametogenetin (GGN) and is essential for normal spermatogenesis. The protein contains a conserved domain of unknown function (DUF) and is highly expressed in testicular germ cells.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| 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 |
