RAET1E

Chr 6

retinoic acid early transcript 1E

Also known as: LETAL, N2DL-4, NKG2DL4, RAET1E2, RL-4, ULBP4, bA350J20.7

This gene belong to the RAET1 family, which consists of major histocompatibility complex (MHC) class I-related genes located in a cluster on chromosome 6q24.2-q25.3. This and RAET1G protein differ from other RAET1 proteins in that they have type I membrane-spanning sequences at their C termini rather than glycosylphosphatidylinositol anchor sequences. This protein functions as a ligand for NKG2D receptor, which is expressed on the surface of several types of immune cells, and is involved in innate and adaptive immune responses. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2011]

ResearchGenerating clinical summary…
0
Active trials
3
Pubs (1 yr)
P/LP submissions
P/LP missense
1.69
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?
1.69LOEUF
pLI 0.000
Z-score -0.09
OE 1.03 (0.631.69)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.02Z-score
OE missense 0.99 (0.861.15)
138 obs / 138.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.03 (0.631.69)
00.351.4
Missense OE?0.99 (0.861.15)
00.61.4
Synonymous OE?0.88
01.21.6
LoF obs/exp: 10 / 9.7Missense obs/exp: 138 / 138.8Syn Z: 0.68

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

RAET1E · 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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