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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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BTBD2
BTB domain containing 2
Chromosome 19 · 19p13.3
NCBI Gene: 55643Ensembl: ENSG00000133243.11HGNC: HGNC:15504UniProt: Q9BX70
49PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingP-bodyneurogenesiscytosolAbnormality of the skeletal systemobesityGenu valgumGenu varum
✦AI Summary

BTBD2 (BTB domain containing 2) is a protein-protein interaction mediator that plays important roles in transcriptional regulation, DNA repair, and cellular restriction mechanisms. The protein contains a BTB/POZ domain that facilitates protein-protein interactions 1. BTBD2 functions as a cofactor for the transcription factor HNF1β, enabling the recruitment and activation of Topoisomerase 1 (TOP1) specifically during mitosis to promote DNA relaxation and chr19 remodeling around mitotic binding sites 2. Additionally, BTBD2 interacts with TOP1 through specific residues (236 and 237) that are critical for HIV-1 viral tropism, and RNAi-mediated depletion of BTBD2 increases cellular permissiveness to HIV-1 infection by 2-3 fold 3. The protein localizes to cytoplasmic bodies where it colocalizes with TRIM5δ, which serves as a scaffold for BTBD2 assembly and may involve ubiquitin-mediated processes 4. BTBD2 has clinical relevance as a tumor antigen recognized by HLA-A2402-restricted cytotoxic T lymphocytes in lung cancer 5, and polymorphisms in BTBD2 are associated with glioblastoma survival outcomes through involvement in double-strand break repair pathways 6. The gene is expressed across multiple cancer types and shows decreased expression in multiple myeloma cells treated with arsenic trioxide 7.

Sources cited
1
BTBD2 contains a BTB/POZ domain that mediates protein-protein interactions
PMID: 11179693
2
BTBD2 enables HNF1β interaction with TOP1 during mitosis for DNA relaxation and chromatin remodeling
PMID: 39388351
3
BTBD2 interacts with TOP1 and its depletion increases HIV-1 infection permissiveness
PMID: 21092135
4
BTBD2 localizes to cytoplasmic bodies and colocalizes with TRIM5δ
PMID: 12878161
5
BTBD2 serves as a tumor antigen recognized by cytotoxic T lymphocytes in lung cancer
PMID: 12782588
6
BTBD2 polymorphisms are associated with glioblastoma survival through double-strand break repair pathways
PMID: 20368557
7
BTBD2 expression is decreased in multiple myeloma cells treated with arsenic trioxide
PMID: 15725085
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.40Moderate
obesityOpen Targets
0.18Weak
Genu valgumOpen Targets
0.05Suggestive
Genu varumOpen Targets
0.05Suggestive
dehydrated hereditary stomatocytosisOpen Targets
0.05Suggestive
HIV-1 infectionOpen Targets
0.05Suggestive
Adult-onset autosomal recessive sideroblastic anemiaOpen Targets
0.04Suggestive
sideroblastic anemia 3Open Targets
0.04Suggestive
hemoglobin D diseaseOpen Targets
0.04Suggestive
hemoglobin E diseaseOpen Targets
0.03Suggestive
severe congenital hypochromic anemia with ringed sideroblastsOpen Targets
0.03Suggestive
overhydrated hereditary stomatocytosisOpen Targets
0.03Suggestive
microcytic anemia with liver iron overloadOpen Targets
0.03Suggestive
autoinflammation with episodic fever and lymphadenopathyOpen Targets
0.03Suggestive
cholestasis, progressive familial intrahepatic, 7, with or without hearing lossOpen Targets
0.03Suggestive
immunoproliferative small intestinal diseaseOpen Targets
0.03Suggestive
mathematical abilityOpen Targets
0.02Suggestive
carpal tunnel syndromeOpen Targets
0.02Suggestive
glioblastoma multiformeOpen Targets
0.02Suggestive
ulcerative colitisOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
BTBD6Shared pathway100%PGBD1Shared pathway100%TRIM5Protein interaction95%TOP1Protein interaction90%CUL3Protein interaction89%COPS5Protein interaction84%
Tissue Expression6 tissues
Ovary
100%
Brain
77%
Liver
60%
Lung
51%
Heart
45%
Bone Marrow
32%
Gene Interaction Network
Click a node to explore
BTBD2BTBD6PGBD1TRIM5TOP1CUL3COPS5
PROTEIN STRUCTURE
Preparing viewer…
PDB3NO8 · 2.20 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.64LoF Tolerant
pLIⓘ
0.28Tolerant
Observed/Expected LoF0.41 [0.28–0.64]
RankingsWhere BTBD2 stands among ~20K protein-coding genes
  • #8,918of 20,598
    Most Researched49
  • #4,519of 17,882
    Most Constrained (LOEUF)0.64
Genes detectedBTBD2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
HNF1β bookmarking involves Topoisomerase 1 activation and DNA topology relaxation in mitotic chromatin.
PMID: 39388351
Cell Rep · 2024
1.00
2
Human TOP1 residues implicated in species specificity of HIV-1 infection are required for interaction with BTBD2, and RNAi of BTBD2 in old world monkey and human cells increases permissiveness to HIV-1 infection.
PMID: 21092135
Virol J · 2010
0.90
3
Identification and characterization of BTBD1, a novel BTB domain containing gene on human chromosome 15q24.
PMID: 11179693
Gene · 2001
0.80
4
BTBD1 and BTBD2 colocalize to cytoplasmic bodies with the RBCC/tripartite motif protein, TRIM5delta.
PMID: 12878161
Exp Cell Res · 2003
0.70
5
Polymorphisms of LIG4, BTBD2, HMGA2, and RTEL1 genes involved in the double-strand break repair pathway predict glioblastoma survival.
PMID: 20368557
J Clin Oncol · 2010
0.60