OOSP2: Oocyte Secreted Protein 2
A member of the oocyte-secreted protein family involved in female fertility and early embryonic development.
Gene Information Card
| Symbol | OOSP2 |
|---|---|
| Full Name | Oocyte Secreted Protein 2 |
| Gene Type | Protein-coding |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 100130889 ncbi.nlm.nih.gov/gene/100130889 |
| Ensembl ID | ENSG00000205755 |
| UniProt ID | A6NKD9 |
| OMIM ID | None |
| HGNC ID | HGNC:33730 |
| Aliases | C19orf36, OOSP2 |
Description
OOSP2 (Oocyte Secreted Protein 2) is a protein-coding gene located on chromosome 19q13.33. It encodes a secreted protein that is specifically expressed in oocytes and is thought to play a role in female fertility and early embryonic development. The protein belongs to the oocyte-secreted protein family, which includes factors involved in cumulus expansion and oocyte maturation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Female infertility | Potential role in oocyte maturation and fertilization; reduced expression may impair fertility | Limited evidence from expression studies; no direct disease association in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Ovary | 0.0 | Not detected |
| Testis | 0.0 | Not detected |
| Brain | 0.0 | Not detected |
| Heart | 0.0 | Not detected |
| Liver | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Oocyte (human) | N/A | High expression reported in oocyte-specific studies |
| Embryonic stem cells | 0.0 | Not expressed |
| HEK293 | 0.0 | Not expressed |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | Unknown | Predicted to affect start codon; no functional data |
| c.100C>T | Missense | Unknown | Substitution p.Arg34Cys; no clinical significance reported |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No gain-of-function mutations documented.
Dominant Negative (DN)
No dominant-negative mutations identified.
View complete mutation data:
Gene Ontology (GO)
| • extracellular region (GO:0005576) | • extracellular space (GO:0005615) |
| • multicellular organism development (GO:0007275) |
Pathways
• Oocyte maturation pathway (inferred from family homology)
Protein Summary
OOSP2 is a small secreted protein (approximately 10 kDa) that is specifically expressed in oocytes. It contains a signal peptide and is predicted to be involved in intercellular communication during folliculogenesis. The protein sequence is conserved among mammals, suggesting an important role in reproduction.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| OOSP2 Knockout HEK293 Cell Line | EDJ-KQ8481 | Human | 219990 | Details Get a Quote |
| OOSP2 Knockout HeLa Cell Line | EDJ-KQ59127 | Human | 219990 | Details Get a Quote |
| OOSP2 Knockout A-549 Cell Line | EDJ-KQ67601 | Human | 219990 | Details Get a Quote |
| OOSP2 Knockout HCT 116 Cell Line | EDJ-KQ75992 | Human | 219990 | Details Get a Quote |