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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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BTBD3
BTB domain containing 3
Chromosome 20 · 20p12.2
NCBI Gene: 22903Ensembl: ENSG00000132640.15HGNC: HGNC:15854UniProt: B4DK27
21PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingidentical protein bindingcerebral cortex developmentneurogenesissmoking initiationalcohol drinkingulcerative colitishealth study participation
✦AI Summary

BTBD3 (BTB domain containing 3) is a protein-coding gene that serves as a key regulator of neuronal development and dendritic morphogenesis. In the developing brain, BTBD3 acts as a regulator of dendritic field orientation during sensory cortex development and directs dendrites toward active axon terminals [based on UniProt annotation]. The gene appears to play important roles in thalamic nuclear regionalization, as evidenced by its expression patterns in the thalamic mantle layer where it contributes to establishing the molecular thalamic protomap 1. BTBD3 has been implicated in several psychiatric and neurological conditions. Genome-wide association studies have identified significant associations between BTBD3 variants and obsessive-compulsive disorder, with one variant near BTBD3 exceeding genome-wide significance thresholds in trio analysis 2. The gene has also been associated with temperament traits, specifically showing significant association with the Harm Avoidance-Fatigability scale in personality studies 3. Additionally, BTBD3 serves as a target for multiple microRNAs including miR-9, miR-181c, and let-7i, suggesting its expression is tightly regulated during both normal development and disease states 4 5. The gene's involvement in neurodevelopmental processes and its dysregulation in psychiatric disorders highlight its clinical significance in understanding brain development and mental health conditions.

Sources cited
1
BTBD3 expression in thalamic mantle layer contributes to molecular thalamic protomap establishment
PMID: 30470893
2
BTBD3 variants show significant association with obsessive-compulsive disorder in genome-wide association studies
PMID: 22889921
3
BTBD3 shows significant association with Harm Avoidance-Fatigability temperament scale
PMID: 35052345
4
BTBD3 is a target gene repressed by miRNAs miR-9 and miR-181c
PMID: 21720722
5
BTBD3 is identified as a target gene of hsa-let-7i microRNA in colorectal cancer studies
PMID: 21625861
Disease Associationsⓘ20
smoking initiationOpen Targets
0.36Weak
alcohol drinkingOpen Targets
0.34Weak
ulcerative colitisOpen Targets
0.31Weak
health study participationOpen Targets
0.31Weak
upper respiratory tract disorderOpen Targets
0.30Weak
AnisometropiaOpen Targets
0.30Weak
hypertrophic cardiomyopathyOpen Targets
0.28Weak
inflammatory bowel diseaseOpen Targets
0.26Weak
SplenomegalyOpen Targets
0.25Weak
appendicitisOpen Targets
0.23Weak
disorder of appendixOpen Targets
0.21Weak
rheumatic diseaseOpen Targets
0.21Weak
injuryOpen Targets
0.20Weak
placenta praeviaOpen Targets
0.20Weak
polyarteritis nodosaOpen Targets
0.20Weak
adolescent idiopathic scoliosisOpen Targets
0.19Weak
benign neoplasmOpen Targets
0.19Weak
hematologic diseaseOpen Targets
0.19Weak
liver diseaseOpen Targets
0.19Weak
skin diseaseOpen Targets
0.19Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CCDC85CShared pathway33%BTBD6Shared pathway33%PGBD1Shared pathway33%BTBD2Shared pathway33%BTBD1Shared pathway33%NOTCH2NLBShared pathway25%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
64%
Heart
35%
Ovary
20%
Lung
15%
Liver
9%
Gene Interaction Network
Click a node to explore
BTBD3CCDC85CBTBD6PGBD1BTBD2BTBD1NOTCH2NLB
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9Y2F9
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.53Moderately Constrained
pLIⓘ
0.95Intolerant
Observed/Expected LoF0.34 [0.22–0.53]
RankingsWhere BTBD3 stands among ~20K protein-coding genes
  • #13,843of 20,598
    Most Researched21
  • #3,287of 17,882
    Most Constrained (LOEUF)0.53 · top quartile
Genes detectedBTBD3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
[Whole-transcriptome sequencing analysis of placental differential miRNA expression profile in Down syndrome].
PMID: 35426807
Nan Fang Yi Ke Da Xue Xue Bao · 2022
1.00
2
Genetic Dissection of Temperament Personality Traits in Italian Isolates.
PMID: 35052345
Genes (Basel) · 2021
0.90
3
Genome-wide association study of obsessive-compulsive disorder.
PMID: 22889921
Mol Psychiatry · 2013
0.80
4
Radial glia fibers translate Fgf8 morphogenetic signals to generate a thalamic nuclear complex protomap in the mantle layer.
PMID: 30470893
Brain Struct Funct · 2019
0.70
5
Heritability and genome-wide association study of benign prostatic hyperplasia (BPH) in the eMERGE network.
PMID: 30988330
Sci Rep · 2019
0.60