• Gene id: 140685

Gene Summary

• Gene Symbol: ZBTB46   Gene   UCSC   Ensembl
• Aliases: BTBD4, BZEL, RINZF, ZNF340, dJ583P15.7, dJ583P15.8
• Gene name: zinc finger and BTB domain containing 46
• Alternate names: zinc finger and BTB domain-containing protein 46, BTB (POZ) domain containing 4, BTB-ZF protein expressed in effector lymphocytes, BTB/POZ domain-containing protein 4, zinc finger protein 340,
• Gene location: 20q13.33 (63832331: 63743669)     Exons: 14     NC_000020.11
• OMIM: 614639

Protein Summary

• Protein general information: Q86UZ6  
  • Name: Zinc finger and BTB domain containing protein 46 (BTB ZF protein expressed in effector lymphocytes) (BZEL) (BTB/POZ domain containing protein 4) (Zinc finger protein 340)
  • Length: 589  
  • Mass: 64083
• Sequence:

  MNNRKEDMEITSHYRHLLRELNEQRQHGVLCDVCVVVEGKVFKAHKNVLLGSSRYFKTLYCQVQKTSEQATVTHL
  DIVTAQGFKAIIDFMYSAHLALTSRNVIEVMSAASFLQMTDIVQACHDFIKAALDISIKSDASDELAEFEIGASS
  SSSTEALISAVMAGRSISPWLARRTSPANSSGDSAIASCHDGGSSYGKEDQEPKADGPDDVSSQPLWPGDVGYGP
  LRIKEEQVSPSQYGGSELPSAKDGAVQNSFSEQSAGDAWQPTGRRKNRKNKETVRHITQQVEDDSRASSPVPSFL
  PTSGWPFSSRDSNADLSVTEASSSDSRGERAELYAQVEEGLLGGEASYLGPPLTPEKDDALHQATAVANLRAALM
  SKNSLLSLKADVLGDDGSLLFEYLPRGAHSLSLNEFTVIRKKFKCPYCSFSAMHQCILKRHMRSHTGERPYPCEI
  CGKKFTRREHMKRHTLVHSKDKKYVCKVCSRVFMSAASVGIRHGSRRHGVCTDCAGRGMAGPLDHGGGGGEGSPE
  ALFPGDGPYLEDPEDPRGEAEELGEDDEGLAPEDALLADDKDEEDSPRPRSPPGGPDKDFAWLS

• Structural information:
  • Protein Domains: (31..9-)
    (/note="BTB-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00037"-)
  • Interpro: IPR000210  IPR011333  IPR036236  IPR013087  
  • Prosite: PS50097 PS00028 PS50157
  • STRING: ENSP00000378536
• Other Databases: GeneCards:  ZBTB46  Malacards:  ZBTB46

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0003677	DNA binding	IBA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:2001199	negative regulation of dendritic cell differentiation	IEA	biological process
GO:2001200	positive regulation of dendritic cell differentiation	IEA	biological process
GO:0045656	negative regulation of monocyte differentiation	IEA	biological process
GO:0045650	negative regulation of macrophage differentiation	IEA	biological process
GO:0030853	negative regulation of granulocyte differentiation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq