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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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KLHL2
kelch like family member 2
Chromosome 4 · 4q32.3
NCBI Gene: 11275Ensembl: ENSG00000109466.14HGNC: HGNC:6353UniProt: B4DFZ5
41PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
actin cytoskeletonidentical protein bindingactin bindingubiquitin-like ligase-substrate adaptor activityeye injurylaryngeal diseasepernicious anemiaAbruptio Placentae
✦AI Summary

KLHL2 (kelch like family member 2) functions as a substrate-specific adaptor protein in BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complexes, mediating the ubiquitination and proteasomal degradation of target proteins 1. The protein directly interacts with and promotes degradation of WNK kinases (WNK1, WNK3, WNK4), which are critical regulators of blood pressure through ion transporter control in the kidney 12. KLHL2 also ubiquitinates other substrates including UCK1 (uridine-cytidine kinase 1), with this activity being antagonized by deubiquitinase USP28 3. Additionally, KLHL2 interacts with neuronal pentraxin NPCD, promoting its ubiquitination and aggresome formation, which can lead to neuronal apoptosis when overexpressed 4. In disease contexts, KLHL2 dysfunction contributes to diabetic vascular complications through impaired WNK kinase degradation 5, while its regulation of UCK1 affects sensitivity to chemotherapy in acute myeloid leukemia 3. The protein has also been identified as a neuroticism-associated gene with brain-specific expression patterns 67. Beyond ubiquitin ligase activity, KLHL2 plays roles in actin cytoskeleton reorganization and promotes growth of cell projections in oligodendrocyte precursors.

Sources cited
1
KLHL2 functions as E3 ubiquitin ligase adaptor interacting with and ubiquitinating WNK kinases
PMID: 23838290
2
Structural characterization of KLHL2-WNK4 interaction important for blood pressure regulation
PMID: 24641320
3
KLHL2-mediated UCK1 degradation affects chemotherapy sensitivity in leukemia
PMID: 31938050
4
KLHL2 interacts with neuronal pentraxin NPCD and promotes ubiquitination and aggresome formation
PMID: 21549840
5
KLHL2 dysfunction in diabetes leads to impaired WNK kinase degradation and vascular complications
PMID: 34343486
6
KLHL2 identified as neuroticism-associated gene in genome-wide association study
PMID: 27067015
7
KLHL2 shows brain-specific expression patterns during development
PMID: 28433457
Disease Associationsⓘ20
eye injuryOpen Targets
0.27Weak
laryngeal diseaseOpen Targets
0.26Weak
pernicious anemiaOpen Targets
0.23Weak
Abruptio PlacentaeOpen Targets
0.23Weak
mathematical abilityOpen Targets
0.20Weak
infectionOpen Targets
0.11Weak
neoplasmOpen Targets
0.11Weak
viral diseaseOpen Targets
0.09Suggestive
Balkan nephropathyOpen Targets
0.09Suggestive
nephrotic syndromeOpen Targets
0.09Suggestive
cancerOpen Targets
0.09Suggestive
Blackfan-Diamond anemiaOpen Targets
0.08Suggestive
familial idiopathic steroid-resistant nephrotic syndromeOpen Targets
0.08Suggestive
focal segmental glomerulosclerosisOpen Targets
0.08Suggestive
non-alcoholic fatty liver diseaseOpen Targets
0.08Suggestive
schizophreniaOpen Targets
0.08Suggestive
small cell lung carcinomaOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
nephrotic syndrome, IIa 26Open Targets
0.07Suggestive
nephronophthisisOpen Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
RBX1Protein interaction99%KLHL22Protein interaction93%KLHL42Protein interaction92%SPOPProtein interaction92%KLHL9Protein interaction92%KBTBD8Protein interaction92%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
69%
Liver
56%
Lung
42%
Heart
21%
Ovary
12%
Gene Interaction Network
Click a node to explore
KLHL2RBX1KLHL22KLHL42SPOPKLHL9KBTBD8
PROTEIN STRUCTURE
Preparing viewer…
PDB4CHB · 1.56 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.36Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.22 [0.14–0.36]
RankingsWhere KLHL2 stands among ~20K protein-coding genes
  • #10,028of 20,598
    Most Researched41
  • #1,616of 17,882
    Most Constrained (LOEUF)0.36 · top 10%
Genes detectedKLHL2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Dysfunction of Cullin 3 RING E3 ubiquitin ligase causes vasoconstriction and increased sodium reabsorption in diabetes.
PMID: 34343486
Arch Biochem Biophys · 2021
1.00
2
Deubiquitinase USP28 inhibits ubiquitin ligase KLHL2-mediated uridine-cytidine kinase 1 degradation and confers sensitivity to 5'-azacytidine-resistant human leukemia cells.
PMID: 31938050
Theranostics · 2020
0.90
3
Structural and biochemical characterization of the KLHL3-WNK kinase interaction important in blood pressure regulation.
PMID: 24641320
Biochem J · 2014
0.80
4
KLHL2 interacts with and ubiquitinates WNK kinases.
PMID: 23838290
Biochem Biophys Res Commun · 2013
0.70
5
Interaction of an intracellular pentraxin with a BTB-Kelch protein is associated with ubiquitylation, aggregation and neuronal apoptosis.
PMID: 21549840
Mol Cell Neurosci · 2011
0.60