• Gene id: 22903

Gene Summary

• Gene Symbol: BTBD3   Gene   UCSC   Ensembl
• Aliases: dJ742J24.1
• Gene name: BTB domain containing 3
• Alternate names: BTB/POZ domain-containing protein 3, BTB (POZ) domain containing 3,
• Gene location: 20p12.2 (11890722: 11926594)     Exons: 7     NC_000020.11
• OMIM: 615566

Protein Summary

• Protein general information: Q9Y2F9  
  • Name: BTB/POZ domain containing protein 3
  • Length: 522  
  • Mass: 58420
• Sequence:

  MVDDKEKNMKCLTFFLMLPETVKNRSKKSSKKANTSSSSSNSSKLPPVCYEIITLKTKKKKMAADIFPRKKPANS
  SSTSVQQYHQQNLSNNNLIPAPNWQGLYPTIRERNAMMFNNDLMADVHFVVGPPGGTQRLPGHKYVLAVGSSVFH
  AMFYGELAEDKDEIRIPDVEPAAFLAMLKYIYCDEIDLAADTVLATLYAAKKYIVPHLARACVNFLETSLSAKNA
  CVLLSQSCLFEEPDLTQRCWEVIDAQAELALKSEGFCDIDFQTLESILRRETLNAKEIVVFEAALNWAEVECQRQ
  DLALSIENKRKVLGKALYLIRIPTMALDDFANGAAQSGVLTLNETNDIFLWYTAAKKPELQFVSKARKGLVPQRC
  HRFQSCAYRSNQWRYRGRCDSIQFAVDKRVFIAGFGLYGSSCGSAEYSAKIELKRQGVVLGQNLSKYFSDGSSNT
  FPVWFEYPVQIEPDTFYTASVILDGNELSYFGQEGMTEVQCGKVTVQFQCSSDSTNGTGVQGGQIPELIFYA

• Structural information:
  • Protein Domains: (120..19-)
    (/note="BTB-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00037-)
    (235..30-)
    (/note="BACK"-)
  • Interpro: IPR011705  IPR000210  IPR012983  IPR038648  IPR011333  
  • Prosite: PS50097
  • STRING: ENSP00000384545
• Other Databases: GeneCards:  BTBD3  Malacards:  BTBD3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005829	cytosol	IBA	cellular component
GO:0022008	neurogenesis	IBA	biological process
GO:0048813	dendrite morphogenesis	IBA	biological process
GO:0021987	cerebral cortex development	IBA	biological process
GO:0048813	dendrite morphogenesis	ISS	biological process
GO:0005829	cytosol	ISS	cellular component
GO:0021987	cerebral cortex development	ISS	biological process
GO:0005634	nucleus	ISS	cellular component
GO:0007399	nervous system development	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0048813	dendrite morphogenesis	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0021987	cerebral cortex development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray