CRISP2: Cysteine-Rich Secretory Protein 2
A testis-specific gene encoding a protein involved in sperm maturation and fertilization, with potential roles in male infertility and cancer.
Gene Information Card
| Symbol | CRISP2 |
|---|---|
| Full Name | Cysteine-Rich Secretory Protein 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 6p12.3 |
| NCBI Gene ID | 7183 ncbi.nlm.nih.gov/gene/7183 |
| Ensembl ID | ENSG00000112658 |
| UniProt ID | P16562 |
| OMIM ID | 114791 |
| HGNC ID | 2366 |
| Aliases | CRISP-2, TPX1, GAPDL5, CRISP2A, CRISP2B |
Description
CRISP2 (Cysteine-Rich Secretory Protein 2) is a protein-coding gene located on chromosome 6p12.3. It encodes a member of the cysteine-rich secretory protein (CRISP) family, which is predominantly expressed in the testis, specifically in the acrosome of spermatozoa. The protein plays a critical role in sperm maturation, capacitation, and fertilization by modulating ion channels. CRISP2 is also implicated in male infertility and has been studied in the context of certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility | Altered CRISP2 expression or mutations impair sperm function and fertilization | ClinVar, PubMed |
| Asthenozoospermia | Reduced CRISP2 levels associated with decreased sperm motility | PubMed |
| Prostate cancer | CRISP2 overexpression may contribute to tumor progression | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 145.2 | High |
| Prostate | 1.8 | Low |
| Lung | 0.5 | Not detected |
| Liver | 0.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NTERA-2 (testicular embryonal carcinoma) | 12.3 | Moderate expression |
| PC-3 (prostate cancer) | 3.1 | Low expression |
| A549 (lung cancer) | 0.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.197G>A (p.Arg66His) | Missense | <0.01% | Unknown functional impact |
| c.344C>T (p.Pro115Leu) | Missense | <0.01% | Potential loss of function |
| c.421_423del (p.Lys141del) | In-frame deletion | <0.01% | Altered protein structure |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., p.Pro115Leu) may disrupt protein folding or ion channel regulation, leading to impaired sperm function.
Gain of Function (GOF)
No gain-of-function mutations reported in CRISP2.
Dominant Negative (DN)
No dominant-negative mutations reported in CRISP2.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Sperm capacitation and acrosome reaction
• Ion channel regulation by CRISP proteins
Protein Summary
CRISP2 is a 243-amino acid protein with a signal peptide and a cysteine-rich domain. It is secreted and localizes to the sperm acrosome. The protein regulates calcium and potassium ion channels, essential for sperm hyperactivation and acrosome reaction. CRISP2 also contains a pathogenesis-related (PR) domain and is involved in cell adhesion and signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CRISP2 Knockout HEK293 Cell Line | EDJ-KQ5961 | Human | 7180 | Details Get a Quote |
| CRISP2 Knockout HeLa Cell Line | EDJ-KQ54690 | Human | 7180 | Details Get a Quote |
| CRISP2 Knockout A-549 Cell Line | EDJ-KQ63175 | Human | 7180 | Details Get a Quote |
| CRISP2 Knockout HCT 116 Cell Line | EDJ-KQ71646 | Human | 7180 | Details Get a Quote |
