• Gene id: 90135

Gene Summary

• Gene Symbol: BTBD6   Gene   UCSC   Ensembl
• Aliases: BDPL
• Gene name: BTB domain containing 6
• Alternate names: BTB/POZ domain-containing protein 6, BTB (POZ) domain containing 6, BTB domain protein BDPL, epididymis secretory sperm binding protein, glucocorticoid receptor AF-1 coactivator-1, lens BTB domain protein,
• Gene location: 14q32.33 (105248532: 105251092)     Exons: 5     NC_000014.9
• OMIM: 611605

Protein Summary

• Protein general information: Q96KE9  
  • Name: BTB/POZ domain containing protein 6 (Lens BTB domain protein)
  • Length: 485  
  • Mass: 53411
  • Tissue specificity: Expressed in lens. {ECO
• Sequence:

  MAAELYAPASAAAADLANSNAGAAVGRKAGPRSPPSAPAPAPPPPAPAPPTLGNNHQESPGWRCCRPTLRERNAL
  MFNNELMADVHFVVGPPGATRTVPAHKYVLAVGSSVFYAMFYGDLAEVKSEIHIPDVEPAAFLILLKYMYSDEID
  LEADTVLATLYAAKKYIVPALAKACVNFLETSLEAKNACVLLSQSRLFEEPELTQRCWEVIDAQAEMALRSEGFC
  EIDRQTLEIIVTREALNTKEAVVFEAVLNWAEAECKRQGLPITPRNKRHVLGRALYLVRIPTMTLEEFANGAAQS
  DILTLEETHSIFLWYTATNKPRLDFPLTKRKGLAPQRCHRFQSSAYRSNQWRYRGRCDSIQFAVDRRVFIAGLGL
  YGSSSGKAEYSVKIELKRLGVVLAQNLTKFMSDGSSNTFPVWFEHPVQVEQDTFYTASAVLDGSELSYFGQEGMT
  EVQCGKVAFQFQCSSDSTNGTGVQGGQIPELIFYA

• Structural information:
  • Protein Domains: (83..15-)
    (/note="BTB-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00037"-)
  • Interpro: IPR011705  IPR000210  IPR012983  IPR038648  IPR011333  
  • Prosite: PS50097
  • PDB: 2VKP
  • PDBsum: 2VKP
  • STRING: ENSP00000376337
• Other Databases: GeneCards:  BTBD6  Malacards:  BTBD6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005829	cytosol	IBA	cellular component
GO:0022008	neurogenesis	IBA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0043687	post-translational protein modification	TAS	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	IBA	cellular component
GO:0022008	neurogenesis	IBA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0043687	post-translational protein modification	TAS	biological process
GO:0005737	cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospermatogenesis	MIK: 28361989
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray