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8 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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KLHL42
kelch like family member 42
Chromosome 12 · 12p11.22
NCBI Gene: 57542Ensembl: ENSG00000087448.11HGNC: HGNC:29252UniProt: B2RNT7
36PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
ubiquitin-protein transferase activityprotein bindingprotein polyubiquitinationregulation of microtubule-based processtype 2 diabetes mellitusdiabetes mellitusdiabetic retinopathydiabetic eye disease
✦AI Summary

KLHL42 (kelch like family member 42) is a substrate-specific adapter of the BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex essential for mitotic progression and microtubule dynamics. The complex mediates ubiquitination and degradation of multiple substrates including KATNA1 (p60/katanin) 1 and PPP2R5ϵ 2. KLHL42 plays critical roles in disease pathogenesis across multiple contexts. In cancer, MYC amplification induces KLHL42 transcription to promote RB1 degradation, conferring resistance to CDK4/6 inhibitors in bladder, prostate, and breast cancers 3. In systemic sclerosis, KLHL42 acts as a profibrotic ligase controlling TGF-β/SMAD2/3 signaling through PPP2R5ϵ degradation, with KLHL42 knockdown reducing fibrotic tissue production and SMAD activation in patient lung fibroblasts 2. KLHL42 also functions in cutaneous T cell lymphoma, where it is transcriptionally activated by GATA3 and promotes aggressive cell proliferation; KLHL42 silencing inhibits proliferation and promotes apoptosis 4. Additionally, miR-26a-5p targets KLHL42 to suppress renal fibrosis in diabetic nephropathy 5, and KLHL42 has been identified as a functional gene in type 2 diabetes pathology 6. These findings suggest KLHL42 inhibition represents a promising therapeutic strategy across multiple fibrotic and neoplastic diseases.

Sources cited
1
MYC enhances KLHL42 transcription, leading to RB1 ubiquitination and degradation, conferring CDK4/6 inhibitor resistance
PMID: 38424044
2
KLHL42 is a profibrotic E3 ligase that controls TGF-β signaling through PPP2R5ϵ ubiquitination in systemic sclerosis
PMID: 32071084
3
KLHL42 is transcriptionally activated by GATA3 in cutaneous T cell lymphoma and promotes aggressive cell proliferation
PMID: 36400759
4
miR-26a-5p targets KLHL42 to ameliorate renal tubulointerstitial fibrosis in diabetic nephropathy
PMID: 37596398
5
KLHL42 is an uncharacterized functional gene identified in type 2 diabetes pathology through Perturb-seq screening
PMID: 41482566
6
KLHL42 (Ctb9/KLHDC5) functions in the Cul3 E3 ligase complex to mediate p60/katanin ubiquitination for mitotic progression
PMID: 19261606
7
KLHL42 is a ubiquitin ligase playing vital roles in scleroderma by targeting TGF-β/Smad signaling
PMID: 33433895
Disease Associationsⓘ20
type 2 diabetes mellitusOpen Targets
0.48Moderate
diabetes mellitusOpen Targets
0.46Moderate
diabetic retinopathyOpen Targets
0.39Weak
diabetic eye diseaseOpen Targets
0.38Weak
diabetic neuropathyOpen Targets
0.35Weak
delusional disorderOpen Targets
0.33Weak
Alzheimer diseaseOpen Targets
0.27Weak
osteoarthritis, hipOpen Targets
0.09Suggestive
osteoarthritisOpen Targets
0.07Suggestive
smoking initiationOpen Targets
0.07Suggestive
adverse effectOpen Targets
0.07Suggestive
response to stimulusOpen Targets
0.07Suggestive
cervical disc degenerative disorderOpen Targets
0.07Suggestive
spinal stenosisOpen Targets
0.07Suggestive
musculoskeletal system diseaseOpen Targets
0.06Suggestive
osteoarthritis, kneeOpen Targets
0.06Suggestive
total hip arthroplastyOpen Targets
0.06Suggestive
breast cancerOpen Targets
0.06Suggestive
vertebral disorderOpen Targets
0.06Suggestive
medical procedureOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
RBX1Protein interaction99%UBE2MProtein interaction95%GLMNProtein interaction95%KLHL22Protein interaction93%TNFAIP1Protein interaction92%GANProtein interaction92%
Tissue Expression6 tissues
Brain
100%
Lung
48%
Ovary
48%
Bone Marrow
39%
Heart
37%
Liver
36%
Gene Interaction Network
Click a node to explore
KLHL42RBX1UBE2MGLMNKLHL22TNFAIP1GAN
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9P2K6
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.32LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.93 [0.66–1.32]
RankingsWhere KLHL42 stands among ~20K protein-coding genes
  • #10,808of 20,598
    Most Researched36
  • #13,885of 17,882
    Most Constrained (LOEUF)1.32
Genes detectedKLHL42
Sources retrieved8 papers
Response time—
📄 Sources
8▼
1
MYC induces CDK4/6 inhibitors resistance by promoting pRB1 degradation.
PMID: 38424044
Nat Commun · 2024
1.00
2
Satellite cell-derived exosome-mediated delivery of microRNA-23a/27a/26a cluster ameliorates the renal tubulointerstitial fibrosis in mouse diabetic nephropathy.
PMID: 37596398
Acta Pharmacol Sin · 2023
0.88
3
The Ubiquitin Proteasome System and Skin Fibrosis.
PMID: 33433895
Mol Diagn Ther · 2021
0.75
4
Kelch-like protein 42 is a profibrotic ubiquitin E3 ligase involved in systemic sclerosis.
PMID: 32071084
J Biol Chem · 2020
0.63
5
Single-cell perturbations decipher ribosomal stress-surveillance regulators in type 2 diabetes.
PMID: 41482566
Nat Metab · 2026
0.50