ISG20L2

Chr 1

interferon stimulated exonuclease gene 20 like 2

Also known as: HSD38

NCBI Gene: 81875ENSG00000143319UniProt: Q9H9L3OMIM: 611930

This gene encodes a 3'-5' exoribonuclease that may be involved in the processing of the 12S pre-rRNA. Pseudogenes have been identified on chromosomes 6 and 11. [provided by RefSeq, Dec 2014]

OMIMResearchGenerating 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.
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.71
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.71LOEUF
pLI 0.088
Z-score 2.30
OE 0.31 (0.15–0.71)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.81Z-score
OE missense 0.84 (0.74–0.95)
167 obs / 199.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.31 (0.15–0.71)
0≤0.351.4
Missense OE?0.84 (0.74–0.95)
0≤0.61.4
Synonymous OE?1.01
0≤1.21.6
LoF obs/exp: 4 / 13.0Missense obs/exp: 167 / 199.1Syn Z: -0.09

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ISG20L2 · 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

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients