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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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KLHL6
kelch like family member 6
Chromosome 3 · 3q27.1
NCBI Gene: 89857Ensembl: ENSG00000172578.12HGNC: HGNC:18653UniProt: Q8WZ60
44PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cytoplasmubiquitin-like ligase-substrate adaptor activityproteasome-mediated ubiquitin-dependent protein catabolic processprotein bindinglymphoid leukemiaskin agingnon-Hodgkins lymphomaalcohol drinking
✦AI Summary

KLHL6 (kelch like family member 6) functions as an E3 ubiquitin ligase that regulates multiple cellular processes through targeted protein degradation. As part of the Cul3-RING ubiquitin ligase complex, KLHL6 targets specific substrates for proteasomal degradation 12. In B-cells, KLHL6 regulates the B-cell receptor complex by targeting CD79B for degradation, thereby controlling surface BCR expression in germinal center B cells 3. KLHL6 also degrades Roquin2, an mRNA decay factor involved in NF-κB pathway regulation 1. In T-cell immunity, KLHL6 prevents exhaustion by promoting TOX degradation and maintains mitochondrial fitness by regulating the PGAM5-Drp1 axis 4. KLHL6 functions as a tumor suppressor in diffuse large B-cell lymphoma (DLBCL), where recurrent mutations disrupt its interaction with cullin3, leading to loss of function 12. Loss of KLHL6 activity promotes chemoresistance in DLBCL and contributes to NOTCH2 stabilization 2. Driver mutations in KLHL6 are found in multiple myeloma and autoimmune diseases, suggesting broad roles in hematologic malignancies 56. KLHL6 expression levels affect sensitivity to polatuzumab vedotin therapy in B-cell lymphomas 3.

Sources cited
1
KLHL6 functions as a Cul3-RING E3 ubiquitin ligase and degrades Roquin2
PMID: 30646831
2
KLHL6 targets CD79B for degradation and regulates BCR surface expression
PMID: 38683128
3
KLHL6 acts as tumor suppressor in DLBCL and regulates NOTCH2 degradation
PMID: 37235754
4
KLHL6 prevents T-cell exhaustion and maintains mitochondrial fitness
PMID: 41535474
5
KLHL6 is a driver gene in multiple myeloma
PMID: 29884741
6
KLHL6 mutations found in autoimmune disease-associated B cells
PMID: 32059783
Disease Associationsⓘ20
lymphoid leukemiaOpen Targets
0.42Moderate
skin agingOpen Targets
0.37Weak
non-Hodgkins lymphomaOpen Targets
0.37Weak
alcohol drinkingOpen Targets
0.32Weak
leukemiaOpen Targets
0.27Weak
injuryOpen Targets
0.23Weak
lymphomaOpen Targets
0.20Weak
post-operative sign or symptomOpen Targets
0.19Weak
neoplasmOpen Targets
0.16Weak
monoclonal B-cell lymphocytosisOpen Targets
0.14Weak
diffuse large B-cell lymphomaOpen Targets
0.10Suggestive
Abruptio PlacentaeOpen Targets
0.09Suggestive
SAPHO syndromeOpen Targets
0.09Suggestive
Okt4 epitope deficiencyOpen Targets
0.09Suggestive
neutropenia, severe congenital, 2, autosomal dominantOpen Targets
0.08Suggestive
combined immunodeficiency with skin granulomasOpen Targets
0.07Suggestive
common variable immunodeficiencyOpen Targets
0.06Suggestive
immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopeniasOpen Targets
0.06Suggestive
Alymphoid cystic thymic dysgenesisOpen Targets
0.06Suggestive
immunodeficiency 84Open Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
RC3H2Protein interaction79%KBTBD13Shared pathway50%LRRC75AShared pathway50%KLHL30Shared pathway50%KLHL38Shared pathway50%KLHL10Shared pathway50%
Tissue Expression6 tissues
Lung
100%
Bone Marrow
82%
Liver
11%
Heart
10%
Brain
6%
Ovary
5%
Gene Interaction Network
Click a node to explore
KLHL6RC3H2KBTBD13LRRC75AKLHL30KLHL38KLHL10
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q8WZ60
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.93LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.71 [0.55–0.93]
RankingsWhere KLHL6 stands among ~20K protein-coding genes
  • #9,607of 20,598
    Most Researched44
  • #8,578of 17,882
    Most Constrained (LOEUF)0.93
Genes detectedKLHL6
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Identification of novel mutational drivers reveals oncogene dependencies in multiple myeloma.
PMID: 29884741
Blood · 2018
1.00
2
The ubiquitin ligase KLHL6 drives resistance to CD8
PMID: 41535474
Nature · 2026
0.90
3
Molecular Determinants of Sensitivity to Polatuzumab Vedotin in Diffuse Large B-Cell Lymphoma.
PMID: 38683128
Cancer Discov · 2024
0.80
4
DLBCL-associated NOTCH2 mutations escape ubiquitin-dependent degradation and promote chemoresistance.
PMID: 37235754
Blood · 2023
0.70
5
KLHL6 is a tumor suppressor gene in diffuse large B-cell lymphoma.
PMID: 30646831
Cell Cycle · 2019
0.60