CRISP3

Chr 6

cysteine rich secretory protein 3

Also known as: Aeg2, CRISP-3, CRS3, SGP28, dJ442L6.3

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]

ResearchGenerating clinical summary…
0
Active trials
13
Pubs (1 yr)
P/LP submissions
P/LP missense
1.11
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.11LOEUF
pLI 0.000
Z-score 1.23
OE 0.67 (0.421.11)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.38Z-score
OE missense 1.09 (0.951.25)
150 obs / 137.5 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.67 (0.421.11)
00.351.4
Missense OE?1.09 (0.951.25)
00.61.4
Synonymous OE?1.17
01.21.6
LoF obs/exp: 11 / 16.4Missense obs/exp: 150 / 137.5Syn Z: -0.98

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

CRISP3 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →