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GeneE
1 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
KLHL28
kelch like family member 28
Chromosome 14 Β· 14q21.2
NCBI Gene: 54813Ensembl: ENSG00000179454.14HGNC: HGNC:19741UniProt: A8K1E0
17PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
ubiquitin-like ligase-substrate adaptor activityproteasome-mediated ubiquitin-dependent protein catabolic processcytoplasmCul3-RING ubiquitin ligase complexJoubert syndrome 37Joubert syndromeciliopathyBrown syndrome
✦AI Summary

KLHL28 is a Kelch-like protein functioning as a ubiquitin-like ligase-substrate adaptor in the Cul3-RING ubiquitin ligase complex, localizing to the cytoplasm where it mediates proteasome-dependent protein degradation. Based on limited published evidence, KLHL28 has been identified as a gene marker specifically expressed in myocardial infarction (MI), demonstrating high predictive performance for MI diagnosis and prognosis 1. However, its specific molecular mechanisms in cardiac pathology remain poorly characterized.

Sources cited
1
KLHL28 identified as a gene marker specifically expressed in myocardial infarction with high predictive performance for MI diagnosis and prognosis
PMID: 33668039
⚠Limited data available β€” This gene has 1 indexed publication. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
Joubert syndrome 37Open Targets
0.51Moderate
Joubert syndromeOpen Targets
0.50Moderate
ciliopathyOpen Targets
0.27Weak
Brown syndromeOpen Targets
0.12Weak
cholelithiasisOpen Targets
0.04Suggestive
non-suppurative otitis mediaOpen Targets
0.03Suggestive
preeclampsiaOpen Targets
0.02Suggestive
Alzheimer diseaseOpen Targets
0.02Suggestive
systemic juvenile idiopathic arthritisOpen Targets
0.01Suggestive
myocardial infarctionOpen Targets
0.01Suggestive
acute myeloid leukemiaOpen Targets
0.00Suggestive
spina bifidaOpen Targets
0.00Suggestive
lung adenocarcinomaOpen Targets
0.00Suggestive
cervical cancerOpen Targets
0.00Suggestive
clear cell renal carcinomaOpen Targets
0.00Suggestive
colon adenocarcinomaOpen Targets
0.00Suggestive
colorectal adenocarcinomaOpen Targets
0.00Suggestive
lung cancerOpen Targets
0.00Suggestive
melanomaOpen Targets
0.00Suggestive
pancreatic adenocarcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
KBTBD13Shared pathway100%LRRC75AShared pathway100%KLHL30Shared pathway100%KLHL38Shared pathway100%KLHL10Shared pathway100%KLHL35Shared pathway100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
69%
Heart
47%
Ovary
34%
Liver
32%
Lung
28%
Gene Interaction Network
Click a node to explore
KLHL28KBTBD13LRRC75AKLHL30KLHL38KLHL10KLHL35
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt Q9NXS3
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.64LoF Tolerant
pLIβ“˜
0.05Tolerant
Observed/Expected LoF0.45 [0.32–0.64]
RankingsWhere KLHL28 stands among ~20K protein-coding genes
  • #15,034of 20,598
    Most Researched17
  • #4,604of 17,882
    Most Constrained (LOEUF)0.64
Genes detectedKLHL28
Sources retrieved1 papers
Response timeβ€”
πŸ“„ Sources
1
1
LncRNA-mRNA co-expression analysis discovered the diagnostic and prognostic biomarkers and potential therapeutic agents for myocardial infarction.
PMID: 33668039
Aging (Albany NY) Β· 2021
1.00