ERGIC2
Chr 12ERGIC and golgi 2
Also known as: CDA14, Erv41, PTX1, cd002
ERGIC2, or PTX1, is a ubiquitously expressed nuclear protein that is downregulated in prostate carcinoma (Kwok et al., 2001 [PubMed 11445006]).[supplied by OMIM, Aug 2008]
ResearchGenerating clinical summary…
Clinical highlights
Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
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?
0.63LOEUF
pLI 0.013
Z-score 2.82
OE 0.33 (0.19–0.63)
Typical tolerance to LoF variation
Missense Constraint?
1.07Z-score
OE missense 0.78 (0.69–0.90)
152 obs / 193.7 exp
Mild missense constraint
Observed / Expected Ratios?
LoF OE?0.33 (0.19–0.63)
0≤0.351.4
Missense OE?0.78 (0.69–0.90)
0≤0.61.4
Synonymous OE?0.89
0≤1.21.6
LoF obs/exp: 7 / 20.9Missense obs/exp: 152 / 193.7Syn Z: 0.69
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ERGIC2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools