HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
KBTBD6
kelch repeat and BTB domain containing 6
Chromosome 13 · 13q14.11
NCBI Gene: 89890Ensembl: ENSG00000165572.8HGNC: HGNC:25340UniProt: Q86V97
39PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingprotein K48-linked ubiquitinationcytoplasmnucleusglomerulonephritisrubellatype 2 diabetes mellitusattention deficit hyperactivity disorder
✦AI Summary

KBTBD6 functions as a substrate adapter protein within the CUL3-RING E3 ubiquitin ligase complex, mediating the ubiquitination and proteasomal degradation of key regulatory proteins 1. The primary characterized function involves targeting TIAM1, a RAC1-specific guanine exchange factor, for Lys-48-linked ubiquitination and degradation, thereby regulating RAC1 signaling pathways that control cytoskeletal organization, cell migration, and proliferation 1. This process requires interaction with GABARAP proteins, which spatially restrict the ligase activity to membrane-associated compartments 1. KBTBD6 also functions in dopamine receptor regulation, where it targets DRD2 for ubiquitination and degradation at multiple lysine residues, affecting dopamine agonist sensitivity in pituitary adenomas 2. Recent genome-wide association studies have identified KBTBD6 as a novel regulator of telomere length, with overexpression leading to telomere lengthening 3. Additionally, KBTBD6 shows tissue-specific imprinting in livestock species but not in humans or mice, suggesting species-specific regulatory evolution 4. The gene has been implicated in various pathological conditions including atherosclerosis 5 and intracranial aneurysms 6, highlighting its broad physiological importance.

Sources cited
1
KBTBD6 functions as substrate adapter in CUL3 ubiquitin ligase complex targeting TIAM1 for degradation and regulating RAC1 signaling
PMID: 25684205
2
KBTBD6 targets DRD2 for ubiquitination and affects dopamine agonist sensitivity in pituitary adenomas
PMID: 32572597
3
KBTBD6 is a novel regulator of telomere length with overexpression leading to telomere lengthening
PMID: 38789417
4
KBTBD6 shows species-specific imprinting in livestock but not in humans or mice
PMID: 37817239
5
KBTBD6 identified as potential biomarker in atherosclerosis
PMID: 32314637
6
KBTBD6 implicated in intracranial aneurysm pathogenesis
PMID: 38511055
Disease Associationsⓘ20
glomerulonephritisOpen Targets
0.19Weak
rubellaOpen Targets
0.09Suggestive
type 2 diabetes mellitusOpen Targets
0.06Suggestive
attention deficit hyperactivity disorderOpen Targets
0.03Suggestive
hereditary attention deficit-hyperactivity disorderOpen Targets
0.03Suggestive
hypercholanemia, familial, 2Open Targets
0.03Suggestive
colorectal cancerOpen Targets
0.01Suggestive
Pituitary Gland AdenomaOpen Targets
0.01Suggestive
hepatocellular carcinomaOpen Targets
0.01Suggestive
pituitary tumorOpen Targets
0.01Suggestive
Alzheimer diseaseOpen Targets
0.00Suggestive
gastric carcinomaOpen Targets
0.00Suggestive
glioblastoma multiformeOpen Targets
0.00Suggestive
Parkinson diseaseOpen Targets
0.00Suggestive
pancreatic ductal adenocarcinomaOpen Targets
0.00Suggestive
atherosclerosisOpen Targets
0.00Suggestive
lung adenocarcinomaOpen Targets
0.00Suggestive
sarcoidosisOpen Targets
0.00Suggestive
meningococcal infectionOpen Targets
0.00Suggestive
aldosterone-producing adenomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
RBX1Protein interaction99%GABARAPL1Protein interaction98%GLMNProtein interaction94%KCTD13Protein interaction92%SPOPLProtein interaction92%KLHL13Protein interaction91%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
55%
Heart
49%
Liver
23%
Ovary
19%
Lung
11%
Gene Interaction Network
Click a node to explore
KBTBD6RBX1GABARAPL1GLMNKCTD13SPOPLKLHL13
PROTEIN STRUCTURE
Preparing viewer…
PDB4XC2 · 1.90 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.34Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.19 [0.11–0.34]
RankingsWhere KBTBD6 stands among ~20K protein-coding genes
  • #10,340of 20,598
    Most Researched39
  • #1,479of 17,882
    Most Constrained (LOEUF)0.34 · top 10%
Genes detectedKBTBD6
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Validation of human telomere length multi-ancestry meta-analysis association signals identifies POP5 and KBTBD6 as human telomere length regulation genes.
PMID: 38789417
Nat Commun · 2024
1.00
2
Identification of potential crucial genes in monocytes for atherosclerosis using bioinformatics analysis.
PMID: 32314637
J Int Med Res · 2020
0.90
3
Imprinting at the KBTBD6 locus involves species-specific maternal methylation and monoallelic expression in livestock animals.
PMID: 37817239
J Anim Sci Biotechnol · 2023
0.80
4
CUL3-KBTBD6/KBTBD7 ubiquitin ligase cooperates with GABARAP proteins to spatially restrict TIAM1-RAC1 signaling.
PMID: 25684205
Mol Cell · 2015
0.70
5
The KBTBD6/7-DRD2 axis regulates pituitary adenoma sensitivity to dopamine agonist treatment.
PMID: 32572597
Acta Neuropathol · 2020
0.60