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6 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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BTBD6
BTB domain containing 6
Chromosome 14 · 14q32.33
NCBI Gene: 90135Ensembl: ENSG00000184887HGNC: HGNC:19897UniProt: A0A384NYR4
21PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
neurogenesiscytosolcytoplasmalcohol drinkingmyopiabreast cancerneoplasm
✦AI Summary

BTBD6 (BTB domain containing 6) functions as an adapter protein for the CUL3 E3 ubiquitin-protein ligase complex 1, playing a conserved role in neuronal development and muscle formation. In Xenopus and Drosophila models, BTBD6/lute is essential for late neuronal development, with knockdown resulting in defects in late neural markers and disorganized axons, while early neural development remains unaffected 1. BTBD6 expression responds positively to proneural genes and negatively to neurogenic gene overexpression, indicating its role in neuronal differentiation 1. Beyond development, BTBD6 has emerged as a disease-relevant gene in cancer biology. It was identified as part of a 16-gene apoptosis and hypoxia signature predicting breast cancer prognosis and immune infiltration 2, and as a candidate susceptibility gene for pancreatic cancer through transcriptome-wide association analysis 3. BTBD6 also appears relevant to uveal melanoma prognosis as part of a six-gene glycolysis and immune response signature 4, and as a hub gene in idiopathic male infertility networks 5. Clinically, BTBD6 deletions contribute to 14q32 deletion syndrome, characterized by intellectual disability and facial dysmorphisms 6.

Sources cited
1
BTBD6 is an adapter protein for CUL3 complex required for late neuronal development and muscle formation
PMID: 18855900
2
BTBD6 is part of a 16-gene apoptosis-hypoxia signature predicting breast cancer prognosis
PMID: 35441810
3
BTBD6 identified as candidate susceptibility gene for pancreatic cancer through transcriptome-wide association
PMID: 31917448
4
BTBD6 is component of six-gene signature related to uveal melanoma prognosis and immune response
PMID: 34630418
5
BTBD6 identified as hub gene in idiopathic male infertility networks
PMID: 36369953
6
BTBD6 deletion contributes to 14q32 deletion syndrome with intellectual disability
PMID: 22488736
Disease Associationsⓘ20
alcohol drinkingOpen Targets
0.02Suggestive
myopiaOpen Targets
0.02Suggestive
breast cancerOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
lung cancerOpen Targets
0.00Suggestive
ulnar-mammary syndromeOpen Targets
0.00Suggestive
pachyonychia congenitaOpen Targets
0.00Suggestive
posterior cortical atrophyOpen Targets
0.00Suggestive
pancreatic ductal adenocarcinomaOpen Targets
0.00Suggestive
male infertilityOpen Targets
0.00Suggestive
cervical cancerOpen Targets
0.00Suggestive
gastric cancerOpen Targets
0.00Suggestive
Hereditary breast cancerOpen Targets
0.00Suggestive
hereditary breast carcinomaOpen Targets
0.00Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.00Suggestive
ovarian serous cystadenocarcinomaOpen Targets
0.00Suggestive
sarcomaOpen Targets
0.00Suggestive
thyroid cancer, nonmedullary, 1Open Targets
0.00Suggestive
urinary bladder cancerOpen Targets
0.00Suggestive
urinary bladder carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
BTBD1Shared pathway100%BTBD2Shared pathway100%PGBD1Shared pathway100%VXNShared pathway50%NTN5Shared pathway50%BTBD3Shared pathway33%
Tissue Expression6 tissues
Liver
100%
Heart
98%
Brain
92%
Lung
89%
Ovary
88%
Bone Marrow
88%
Gene Interaction Network
Click a node to explore
BTBD6BTBD1BTBD2PGBD1VXNNTN5BTBD3
PROTEIN STRUCTURE
Preparing viewer…
PDB2VKP · 1.90 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.06LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.78 [0.58–1.06]
RankingsWhere BTBD6 stands among ~20K protein-coding genes
  • #13,844of 20,598
    Most Researched21
  • #10,628of 17,882
    Most Constrained (LOEUF)1.06
Genes detectedBTBD6
Sources retrieved6 papers
Response time—
📄 Sources
6▼
1
Identification of a combined apoptosis and hypoxia gene signature for predicting prognosis and immune infiltration in breast cancer.
PMID: 35441810
Cancer Med · 2022
1.00
2
Xenopus BTBD6 and its Drosophila homologue lute are required for neuronal development.
PMID: 18855900
Dev Dyn · 2008
0.83
3
A Transcriptome-Wide Association Study Identifies Novel Candidate Susceptibility Genes for Pancreatic Cancer.
PMID: 31917448
J Natl Cancer Inst · 2020
0.67
4
Identification of potential key genes related to idiopathic male infertility using RNA-sequencing data: an
PMID: 36369953
Hum Fertil (Camb) · 2023
0.50
5
A Comprehensive Prognostic and Immunological Analysis of a Six-Gene Signature Associated With Glycolysis and Immune Response in Uveal Melanoma.
PMID: 34630418
Front Immunol · 2021
0.33