KLHL31

Chr 6

kelch like family member 31

ENSG00000124743UniProt: Q9H511

Transcriptional repressor in MAPK/JNK signaling pathway to regulate cellular functions. Overexpression inhibits the transcriptional activities of both the TPA-response element (TRE) and serum response element (SRE)

0
ClinVar variants
0
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— KLHL31
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
Some data sources returned errors (1)

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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.
0.91LOEUF
pLI 0.000
Z-score 1.87
OE 0.56 (0.36–0.91)
Tolerant

Typical tolerance to LoF variation

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.
0.77Z-score
OE missense 0.89 (0.81–0.97)
319 obs / 359.9 exp
Tolerant

Mild missense constraint

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.0.56 (0.36–0.91)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.89 (0.81–0.97)
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.0.94
0≤1.21.6
LoF obs/exp: 12 / 21.3Missense obs/exp: 319 / 359.9Syn Z: 0.55

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

KLHL31 · 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
KELCH-LIKE 31; KLHL31
MIM #610749 · *
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Molecular Network Analysis and Effector Gene Prioritization of Endurance-Training-Influenced Modulation of Cardiac Aging.
Wang M et al.·Genes (Basel)
2025
Klhl31 attenuates β-catenin dependent Wnt signaling and regulates embryo myogenesis.
Abou-Elhamd A et al.·Dev Biol
2015
A novel human BTB-kelch protein KLHL31, strongly expressed in muscle and heart, inhibits transcriptional activities of TRE and SRE.
Yu W et al.·Mol Cells
2008
Epigenetics of Muscle- and Brain-Specific Expression of KLHL Family Genes.
Ehrlich KC et al.·Int J Mol Sci
2020
Identification of HSPA8 as an interacting partner of MAB21L2 and an important factor in eye development.
Seese SE et al.·Dev Dyn
2023
A Novel Intergenic Region Between KLHL31 and LRRC1-ALK Exon 20 Fusion Variant in Advanced Lung Adenocarcinoma and its Remarkable Response to ALK Inhibitor.
Qiu H et al.·J Thorac Oncol
2021
Associations of sex hormone-binding globulin and testosterone with genome-wide DNA methylation.
Arathimos R et al.·BMC Genet
2018
Genetic Studies of Leptin Concentrations Implicate Leptin in the Regulation of Early Adiposity.
Yaghootkar H et al.·Diabetes
2020
A novel zebrafish kelchlike gene klhl and its human ortholog KLHL display conserved expression patterns in skeletal and cardiac muscles.
Wu YL et al.·Gene
2004Functional
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

No active trials found for this gene.

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External Resources

Links to major genomics databases and tools