AIMP2

Chr 7

aminoacyl tRNA synthetase complex interacting multifunctional protein 2

Also known as: HLD17, JTV-1, JTV1, P38

The protein encoded by this gene is part of the aminoacyl-tRNA synthetase complex, which contains nine different aminoacyl-tRNA synthetases and three non-enzymatic factors. The encoded protein is one of the non-enzymatic factors and is required for assembly and stability of the complex. [provided by RefSeq, May 2016]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtLeukodystrophy, hypomyelinating, 17

Clinical highlights

Gene-disease validity (ClinGen)
leukodystrophy, hypomyelinating, 17 · ARDefinitivesufficient evidence for diagnostic panels
0
Active trials
10
Pubs (1 yr)
P/LP submissions
P/LP missense
0.97
LOEUF
DN
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?
0.97LOEUF
pLI 0.008
Z-score 1.65
OE 0.46 (0.240.97)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.85Z-score
OE missense 1.17 (1.051.31)
227 obs / 193.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.46 (0.240.97)
00.351.4
Missense OE?1.17 (1.051.31)
00.61.4
Synonymous OE?1.21
01.21.6
LoF obs/exp: 5 / 10.9Missense obs/exp: 227 / 193.7Syn Z: -1.57

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

AIMP2 · 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 →