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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
KLHL3
kelch like family member 3
Chromosome 5 Β· 5q31.2
NCBI Gene: 26249Ensembl: ENSG00000146021.16HGNC: HGNC:6354UniProt: Q9UH77
64PubMed Papers
21Diseases
0Drugs
29Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
distal tubule morphogenesisrenal sodium ion absorptioncullin family protein bindingubiquitin-like ligase-substrate adaptor activitypseudohypoaldosteronism type 2Dpseudohypoaldosteronism type 2Aatrial fibrillationneurodegenerative disease
✦AI Summary

KLHL3 functions as a substrate-specific adapter protein in a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that regulates ion transport in the kidney's distal nephron 1. The primary mechanism involves KLHL3-CUL3 complex-mediated ubiquitination and proteasomal degradation of WNK kinases (WNK1, WNK4, and WNK3), which are activators of the Na-Cl cotransporter NCC in distal convoluted tubule cells 12. This degradation pathway controls NaCl reabsorption and potassium secretion in the kidney. KLHL3 contains kelch repeats at its C-terminus and recognizes WNK4 through both an acidic motif and a novel C-terminal motif 3. The protein undergoes O-GlcNAcylation, which may regulate its function 4. Mutations in KLHL3 cause Familial Hyperkalemic Hypertension (Gordon syndrome), characterized by hypertension, hyperkalemia, and metabolic acidosis 125. Disease-causing mutations typically affect the Kelch domain, impairing KLHL3's ability to bind and degrade WNK kinases, leading to their accumulation and subsequent overactivation of NCC 2. KLHL3 is also implicated in other conditions including primary hyperparathyroidism, diabetes mellitus, and cardiovascular diseases 5.

Sources cited
1
KLHL3 forms E3 ubiquitin ligase complex with CUL3 and regulates ion transport by degrading WNK kinases
PMID: 39699086
2
KLHL3-CUL3 complex ubiquitinates WNK4 to maintain normal blood pressure and potassium levels
PMID: 31795491
3
KLHL3 recognizes WNK4 through acidic motif and novel C-terminal motif
PMID: 37285722
4
KLHL3 and WNK kinases are O-GlcNAcylated, suggesting functional regulation
PMID: 40796245
5
KLHL3 mutations are associated with multiple diseases including Gordon syndrome, diabetes, and cardiovascular conditions
PMID: 35585379
Disease Associationsβ“˜21
pseudohypoaldosteronism type 2DOpen Targets
0.82Strong
pseudohypoaldosteronism type 2AOpen Targets
0.55Moderate
atrial fibrillationOpen Targets
0.42Moderate
neurodegenerative diseaseOpen Targets
0.37Weak
genetic disorderOpen Targets
0.34Weak
essential hypertensionOpen Targets
0.31Weak
prostatitisOpen Targets
0.29Weak
cerebral palsyOpen Targets
0.27Weak
benign neoplasm of adrenal glandOpen Targets
0.26Weak
heart failureOpen Targets
0.23Weak
autosomal dominant pseudohypoaldosteronism type 1Open Targets
0.21Weak
atrioventricular blockOpen Targets
0.15Weak
Alzheimer diseaseOpen Targets
0.09Suggestive
pseudohypoaldosteronism type 2EOpen Targets
0.08Suggestive
pseudohypoaldosteronism type 2BOpen Targets
0.08Suggestive
pseudohypoaldosteronism type 2COpen Targets
0.08Suggestive
obesityOpen Targets
0.07Suggestive
Liddle syndrome 2Open Targets
0.07Suggestive
Liddle syndrome 3Open Targets
0.07Suggestive
ocular hypotensionOpen Targets
0.07Suggestive
Pseudohypoaldosteronism 2DUniProt
Pathogenic Variants29
NM_017415.3(KLHL3):c.1298G>A (p.Ser433Asn)Pathogenic
Pseudohypoaldosteronism type 2D|Pseudohypoaldosteronism type 2A|Renal tubulopathies|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 433
NM_017415.3(KLHL3):c.1007G>T (p.Arg336Ile)Pathogenic
Pseudohypoaldosteronism type 2D|Pseudohypoaldosteronism type 2A|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 336
NM_017415.3(KLHL3):c.1583G>A (p.Arg528His)Pathogenic
Pseudohypoaldosteronism type 2D|Pseudohypoaldosteronism type 2A|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 528
NM_017415.3(KLHL3):c.718C>T (p.Arg240Ter)Pathogenic
Pseudohypoaldosteronism type 2D|Pseudohypoaldosteronism type 2A|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 240
NM_017415.3(KLHL3):c.1582C>T (p.Arg528Cys)Likely pathogenic
Pseudohypoaldosteronism type 2D|Pseudohypoaldosteronism type 2A
β˜…β˜…β˜†β˜†2024β†’ Residue 528
NM_017415.3(KLHL3):c.926A>G (p.Gln309Arg)Pathogenic
Pseudohypoaldosteronism type 2A|not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 309
NM_017415.3(KLHL3):c.1280T>C (p.Met427Thr)Likely pathogenic
Pseudohypoaldosteronism type 2A|Pseudohypoaldosteronism type 2D
β˜…β˜†β˜†β˜†2024β†’ Residue 427
NM_017415.3(KLHL3):c.1291C>T (p.Arg431Trp)Likely pathogenic
Pseudohypoaldosteronism type 2D
β˜…β˜†β˜†β˜†2024β†’ Residue 431
NM_017415.3(KLHL3):c.234G>A (p.Met78Ile)Likely pathogenic
Pseudohypoaldosteronism type 2D
β˜…β˜†β˜†β˜†2024β†’ Residue 78
NM_017415.3(KLHL3):c.1295G>A (p.Ser432Asn)Likely pathogenic
Pseudohypoaldosteronism type 2A|Pseudohypoaldosteronism type 2D
β˜…β˜†β˜†β˜†2022β†’ Residue 432
NM_017415.3(KLHL3):c.1554_1570dup (p.Asn524delinsSerLysTrpGlnThrTer)Pathogenic
Pseudohypoaldosteronism type 2D
β˜…β˜†β˜†β˜†2021β†’ Residue 524
NM_017415.3(KLHL3):c.1692G>A (p.Trp564Ter)Likely pathogenic
Cerebral palsy
β˜…β˜†β˜†β˜†2021β†’ Residue 564
NM_017415.3(KLHL3):c.1000C>T (p.Pro334Ser)Likely pathogenic
Pseudohypoaldosteronism type 2D
β˜…β˜†β˜†β˜†2021β†’ Residue 334
NM_017415.3(KLHL3):c.139C>T (p.Gln47Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2018β†’ Residue 47
NM_017415.3(KLHL3):c.1277C>T (p.Pro426Leu)Pathogenic
Pseudohypoaldosteronism type 2D
β˜†β˜†β˜†β˜†2012β†’ Residue 426
NM_017415.3(KLHL3):c.1229C>T (p.Ser410Leu)Pathogenic
Pseudohypoaldosteronism type 2D|Pseudohypoaldosteronism type 2A
β˜†β˜†β˜†β˜†2012β†’ Residue 410
NM_017415.3(KLHL3):c.1193C>T (p.Ala398Val)Pathogenic
Pseudohypoaldosteronism type 2D
β˜†β˜†β˜†β˜†2012β†’ Residue 398
NM_017415.3(KLHL3):c.1587C>A (p.Asn529Lys)Pathogenic
Pseudohypoaldosteronism type 2D
β˜†β˜†β˜†β˜†2012β†’ Residue 529
NM_017415.3(KLHL3):c.1410G>A (p.Trp470Ter)Pathogenic
Pseudohypoaldosteronism type 2A|Pseudohypoaldosteronism type 2D
β˜†β˜†β˜†β˜†2012β†’ Residue 470
NM_017415.3(KLHL3):c.965T>G (p.Phe322Cys)Pathogenic
Pseudohypoaldosteronism type 2D|Pseudohypoaldosteronism type 2A
β˜†β˜†β˜†β˜†2012β†’ Residue 322
View on ClinVar β†—
Related Genes
SLC12A3Protein interaction99%RBX1Protein interaction99%KLHL22Protein interaction93%KLHL42Protein interaction92%KLHL9Protein interaction92%KBTBD8Protein interaction92%
Tissue Expression6 tissues
Heart
100%
Ovary
44%
Bone Marrow
27%
Brain
17%
Liver
16%
Lung
14%
Gene Interaction Network
Click a node to explore
KLHL3SLC12A3RBX1KLHL22KLHL42KLHL9KBTBD8
PROTEIN STRUCTURE
Preparing viewer…
PDB4CH9 Β· 1.84 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.38Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.24 [0.16–0.38]
RankingsWhere KLHL3 stands among ~20K protein-coding genes
  • #7,282of 20,598
    Most Researched64
  • #1,850of 5,498
    Most Pathogenic Variants29
  • #1,800of 17,882
    Most Constrained (LOEUF)0.38 Β· top quartile
Genes detectedKLHL3
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Familial Hyperkalemic Hypertension.
PMID: 39699086
Compr Physiol Β· 2024
1.00
2
WNK1 in the kidney.
PMID: 35894282
Curr Opin Nephrol Hypertens Β· 2022
0.90
3
The Molecular Genetics of Gordon Syndrome.
PMID: 31795491
Genes (Basel) Β· 2019
0.80
4
Identification of a novel KLHL3-interacting motif in the C-terminal region of WNK4.
PMID: 37285722
Biochem Biophys Res Commun Β· 2023
0.70
5
Kelch-like protein 3 in human disease and therapy.
PMID: 35585379
Mol Biol Rep Β· 2022
0.60