AKR1E2

Chr 10

aldo-keto reductase family 1 member E2

Also known as: AKR1CL2, AKRDC1, HTSP1, LoopADR, TAKR, hTSP, htAKR

The protein encoded by this gene is a member of the aldo-keto reductase superfamily. Members in this family are characterized by their structure (evolutionarily highly conserved TIM barrel) and function (NAD(P)H-dependent oxido-reduction of carbonyl groups). Transcripts of this gene have been reported in specimens of human testis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]

ResearchGenerating clinical summary…
0
Active trials
3
Pubs (1 yr)
P/LP submissions
P/LP missense
1.42
LOEUF
Multiple*
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?
1.42LOEUF
pLI 0.000
Z-score 0.21
OE 0.95 (0.651.42)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.31Z-score
OE missense 1.07 (0.951.20)
188 obs / 176.3 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.95 (0.651.42)
00.351.4
Missense OE?1.07 (0.951.20)
00.61.4
Synonymous OE?0.74
01.21.6
LoF obs/exp: 17 / 18.0Missense obs/exp: 188 / 176.3Syn Z: 1.68

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

AKR1E2 · 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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