AKR1B10

Chr 7

aldo-keto reductase family 1 member B10

Also known as: AKR1B11, AKR1B12, ALDRLn, ARL-1, ARL1, HIS, HSI

NCBI Gene: 57016ENSG00000198074UniProt: O60218

This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. This member can efficiently reduce aliphatic and aromatic aldehydes, and it is less active on hexoses. It is highly expressed in adrenal gland, small intestine, and colon, and may play an important role in liver carcinogenesis. [provided by RefSeq, Jul 2008]

77
ClinVar variants
32
Pathogenic / LP
0.00
pLI score
3
Active trials
Clinical Summary— AKR1B10
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
32 Pathogenic / Likely Pathogenic· 39 VUS of 77 total submissions
💊
Clinical Trials
3 active or recruiting trials — potential therapeutic options may be available

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.31LOEUF
pLI 0.000
Z-score 0.62
OE 0.84 (0.55–1.31)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
-0.19Z-score
OE missense 1.04 (0.92–1.18)
180 obs / 172.9 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.84 (0.55–1.31)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.04 (0.92–1.18)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.14
0≤1.21.6
LoF obs/exp: 14 / 16.7Missense obs/exp: 180 / 172.9Syn Z: -0.93

ClinVar Variant Classifications

77 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic31
Likely Pathogenic1
VUS39
Likely Benign6
31
Pathogenic
1
Likely Pathogenic
39
VUS
6
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
31
0
31
Likely Pathogenic
0
0
1
0
1
VUS
0
34
5
0
39
Likely Benign
0
2
0
4
6
Benign
0
0
0
0
0
Total03637477

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

AKR1B10 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Transcriptomic profiling across the nonalcoholic fatty liver disease spectrum reveals gene signatures for steatohepatitis and fibrosis.
Govaere O et al.·Sci Transl Med
2020
Targeting AKR1B10 by Drug Repurposing with Epalrestat Overcomes Chemoresistance in Non-Small Cell Lung Cancer Patient-Derived Tumor Organoids.
Suvilesh KN et al.·Clin Cancer Res
2024
Role of AKR1B10 in inflammatory diseases.
Guo M et al.·Scand J Immunol
2024Review
Clinical value of AKR1B10 in hepatocellular carcinoma: A systematic review and meta-analysis.
Wang Z et al.·PLoS One
2022Meta-analysis
The pan-cancer landscape of aldo-keto reductase1B10 reveals that its expression is diminished in gastric cancer.
Wu A et al.·Front Immunol
2024
Serum AKR1B10 as an indicator of unfavorable survival of hepatocellular carcinoma.
Xie C et al.·J Gastroenterol
2023
Metabolic classifications of renal cell carcinoma reveal intrinsic connections with clinical and immune characteristics.
Li L et al.·J Transl Med
2023
AARS1-mediated AKR1B10 lactylation stabilizes an aerobic glycolysis-positive feedback loop to drive lenvatinib resistance in hepatocellular carcinoma.
Liu Z et al.·Clin Transl Med
2026
Identification of proteomic signatures associated with lung cancer and COPD.
Pastor MD et al.·J Proteomics
2013Clinical trial
NRF2 activation by cysteine as a survival mechanism for triple-negative breast cancer cells.
Bottoni L et al.·Oncogene
2024Functional
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov
CirrhosisHepotacellular Carcinoma

The Role of Serum AKR1B10 in Early Warning of Hepatocellular Carcinoma in Cirrhosis Patients

RECRUITING
NCT07147335The First Affiliated Hospital of University of South ChinaStarted 2025-05-16
serum AKR1B10 levels
Hepatocellular Carcinoma

Evaluation of AKR1B10 as a New Marker for Interventional Therapy of Hepatocellular Carcinoma

RECRUITING
NCT06272656Hebei Medical University Third HospitalStarted 2024-04-01
Hepatocellular Carcinoma (HCC)

The Use of AKR1B10 for Monitoring Postoperative Recurrence of Hepatocellular Carcinoma

NOT YET RECRUITING
NCT06750159Peking Union Medical College HospitalStarted 2024-12-16
No intervention (observational study)

External Resources

Links to major genomics databases and tools