VTRNA2-1

Chr 5

vault RNA 2-1

Also known as: CBL-3, CBL3, MIR886, MIRN886, VTRNA2, hsa-mir-886, hvg-5, nc886

This gene produces an RNA polymerase III transcript that resembles both a component of the ribonucleoprotein vault particle and a pre-microRNA. However, the RNA product does not function as a vault or microRNA; rather, it acts as a direct inhibitor of protein kinase R (also known as eukaryotic translation initiation factor 2-alpha kinase 2, EIF2AK2), and thereby plays an important role in the regulation of cell growth. This gene is located in the vicinity of a differentially methylated region (DMR) and is imprinted and may show allele-specific expression. This gene is also often hypermethylated and repressed in cancers. [provided by RefSeq, Nov 2015]

0
Active trials
13
Pathogenic / LP
17
ClinVar variants
7
Pubs (1 yr)
Missense Z
LOEUF
Clinical SummaryVTRNA2-1
📋
ClinVar Variants
13 Pathogenic / Likely Pathogenic· 3 VUS of 17 total submissions

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

17 submitted variants in ClinVar

Classification Summary

Pathogenic12
Likely Pathogenic1
VUS3
Likely Benign1
12
Pathogenic
1
Likely Pathogenic
3
VUS
1
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
12
Likely Pathogenic
1
VUS
3
Likely Benign
1
Benign
0
Total17

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

VTRNA2-1 · 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.

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Clinical Literature
Landmark / reviewRecent case evidence