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.

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 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
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