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.
BTBD9
BTB domain containing 9
Chromosome 6 · 6p21.2
NCBI Gene: 114781Ensembl: ENSG00000183826.20HGNC: HGNC:21228UniProt: Q96Q07
49PubMed Papers
21Diseases
0Drugs
0Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingadult locomotory behaviorcircadian behaviormodulation of chemical synaptic transmissionrestless legs syndromeinsomniamovement disorderSleep Disorder
✦AI Summary

BTBD9 encodes a BTB domain-containing protein that functions as an adaptor component of the CRL3 ubiquitin ligase complex, regulating protein degradation through polyubiquitination 1. The protein plays critical roles in sleep regulation and motor control, particularly within cerebellar circuits where it modulates Purkinje cell activity and excitability 2. BTBD9 also functions in neuroprotection by regulating the insulin/insulin-like growth factor signaling pathway through FOXO, protecting against manganese-induced oxidative stress and dopaminergic neurotoxicity 3. Genetically, BTBD9 variants are strongly associated with restless legs syndrome (RLS) across multiple populations, including Chinese, Korean, and European cohorts, with polymorphisms conferring increased disease risk 4567. Loss of BTBD9 function in animal models results in motor restlessness, sleep disruption, and altered cerebellar activity, recapitulating key RLS phenotypes 82. In cancer biology, BTBD9 functions as a tumor suppressor by promoting TNFAIP1 degradation, with its downregulation associated with increased lung cancer cell migration and poor patient survival 1. The gene's diverse functions span sleep-wake regulation, motor control, neuroprotection, and tumor suppression through distinct molecular mechanisms.

Sources cited
1
BTBD9 functions as an adaptor component of CRL3 ubiquitin ligase complex and promotes TNFAIP1 degradation
PMID: 32327643
2
BTBD9 modulates Purkinje cell activity in cerebellum and loss causes motor restlessness and sleep disruption
PMID: 32446853
3
BTBD9 protects against manganese-induced oxidative stress via insulin/IGF signaling pathway regulation
PMID: 35134179
4
BTBD9 variants are associated with restless legs syndrome risk in Chinese population
PMID: 28329290
5
BTBD9 polymorphisms are associated with antipsychotic-induced RLS in schizophrenia patients
PMID: 23361623
6
BTBD9 variants show significant association with RLS in US population
PMID: 21925394
7
BTBD9 is genetically associated with RLS in end stage renal disease patients
PMID: 21572129
8
BTBD9 knockout animal models exhibit RLS-like behaviors and motor restlessness
PMID: 27839945
Disease Associationsⓘ21
restless legs syndromeOpen Targets
0.52Moderate
insomniaOpen Targets
0.42Moderate
movement disorderOpen Targets
0.37Weak
Sleep DisorderOpen Targets
0.37Weak
extrapyramidal and movement diseaseOpen Targets
0.36Weak
periodic limb movement disorderOpen Targets
0.36Weak
HepatomegalyOpen Targets
0.30Weak
ovarian dysfunctionOpen Targets
0.29Weak
obesityOpen Targets
0.28Weak
male reproductive organ cancerOpen Targets
0.26Weak
alopecia areataOpen Targets
0.26Weak
intracerebral hemorrhageOpen Targets
0.26Weak
Hodgkins lymphomaOpen Targets
0.26Weak
Increased total eosinophil countOpen Targets
0.25Weak
hypertrophic cardiomyopathyOpen Targets
0.24Weak
placenta praeviaOpen Targets
0.24Weak
iridocyclitisOpen Targets
0.24Weak
corneal diseaseOpen Targets
0.24Weak
iris disorderOpen Targets
0.24Weak
scleral disorderOpen Targets
0.24Weak
Restless legs syndrome 6UniProt
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MRPL19Protein interaction100%MRPL27Protein interaction100%MRPL3Protein interaction100%MRPL4Protein interaction100%FAF1Protein interaction99%UBXN7Protein interaction99%
Tissue Expression6 tissues
Brain
100%
Heart
85%
Lung
57%
Bone Marrow
51%
Ovary
50%
Liver
22%
Gene Interaction Network
Click a node to explore
BTBD9MRPL19MRPL27MRPL3MRPL4FAF1UBXN7
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q96Q07
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.96LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.75 [0.58–0.96]
RankingsWhere BTBD9 stands among ~20K protein-coding genes
  • #8,919of 20,598
    Most Researched49
  • #9,032of 17,882
    Most Constrained (LOEUF)0.96
Genes detectedBTBD9
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Animal models of RLS phenotypes.
PMID: 27839945
Sleep Med · 2017
1.00
2
The Role of BTBD9 in the Cerebellum, Sleep-like Behaviors and the Restless Legs Syndrome.
PMID: 32446853
Neuroscience · 2020
0.90
3
BTBD9 attenuates manganese-induced oxidative stress and neurotoxicity by regulating insulin growth factor signaling pathway.
PMID: 35134179
Hum Mol Genet · 2022
0.80
4
Association of BTBD9 and MAP2K5/SKOR1 With Restless Legs Syndrome in Chinese Population.
PMID: 28329290
Sleep · 2017
0.70
5
The CRL3
PMID: 32327643
Signal Transduct Target Ther · 2020
0.60