CRISP3
cysteine rich secretory protein 3
Summary
This gene encodes a member of the cysteine-rich secretory protein (CRISP) family within the CRISP, antigen 5 and pathogenesis-related 1 proteins superfamily. The encoded protein has an N-terminal CRISP, antigen 5 and pathogenesis-related 1 proteins domain, a hinge region, and a C-terminal ion channel regulator domain. This protein contains cysteine residues, located in both the N- and C-terminal domains, that form eight disulfide bonds, a distinguishing characteristic of this family. This gene is expressed in the male reproductive tract where it plays a role in sperm function and fertilization, and the female reproductive tract where it plays a role in endometrial receptivity for embryo implantation. This gene is upregulated in certain types of prostate cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]
Known Variants14 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs377601560 | 6:49,696,466 | T/G | — | uncertain significance |
| rs748416267 | 6:49,696,561 | C/T | — | uncertain significance |
| rs1768907433 | 6:49,698,902 | G/A | — | uncertain significance |
| rs148954938 | 6:49,698,932 | T/A | — | uncertain significance |
| rs200563569 | 6:49,698,936 | G/T | — | uncertain significance |
| rs775443908 | 6:49,700,965 | G/A | — | uncertain significance |
| rs777048852 | 6:49,700,980 | A/G | — | uncertain significance |
| rs377483373 | 6:49,700,981 | C/T | — | uncertain significance |
| rs868076293 | 6:49,701,475 | C/T | — | uncertain significance |
| rs2533194353 | 6:49,703,297 | T/C | — | likely benign |
| rs2533199413 | 6:49,705,075 | G/A | — | uncertain significance |
| rs754601699 | 6:49,705,107 | C/T | — | uncertain significance |
| rs185780084 | 6:49,709,314 | C/A | intron variant | — |
| rs2533217927 | 6:49,712,046 | G/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.