TARBP2

Chr 12

TARBP2 subunit of RISC loading complex

Also known as: LOQS, TRBP, TRBP1, TRBP2

HIV-1, the causative agent of acquired immunodeficiency syndrome (AIDS), contains an RNA genome that produces a chromosomally integrated DNA during the replicative cycle. Activation of HIV-1 gene expression by the transactivator Tat is dependent on an RNA regulatory element (TAR) located downstream of the transcription initiation site. The protein encoded by this gene binds between the bulge and the loop of the HIV-1 TAR RNA regulatory element and activates HIV-1 gene expression in synergy with the viral Tat protein. Alternative splicing results in multiple transcript variants encoding different isoforms. This gene also has a pseudogene. [provided by RefSeq, Jul 2008]

GeneReviewsResearchGenerating 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
8
Pubs (1 yr)
P/LP submissions
P/LP missense
0.49
LOEUF
Mechanism
📖
GeneReview available — TARBP2
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint?
0.49LOEUF
pLI 0.466
Z-score 3.17
OE 0.21 (0.100.49)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.77Z-score
OE missense 0.66 (0.580.76)
146 obs / 219.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.21 (0.100.49)
00.351.4
Missense OE?0.66 (0.580.76)
00.61.4
Synonymous OE?1.01
01.21.6
LoF obs/exp: 4 / 18.8Missense obs/exp: 146 / 219.7Syn Z: -0.07

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

TARBP2 · 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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