• Gene id: 10472

Gene Summary

• Gene Symbol: ZBTB18   Gene   UCSC   Ensembl
• Aliases: C2H2-171, MRD22, RP58, TAZ-1, ZNF238
• Gene name: zinc finger and BTB domain containing 18
• Alternate names: zinc finger and BTB domain-containing protein 18, 58 kDa repressor protein, transcriptional repressor RP58, translin-associated zinc finger protein 1, zinc finger protein 238, zinc finger protein C2H2-171,
• Gene location: 1q44 (244048938: 244057475)     Exons: 4     NC_000001.11
• Gene summary(Entrez): This gene encodes a C2H2-type zinc finger protein which acts a transcriptional repressor of genes involved in neuronal development. The encoded protein recognizes a specific sequence motif and recruits components of chromatin to target genes. Alternative
• OMIM: 608433

Protein Summary

• Protein general information: Q99592  
  • Name: Zinc finger and BTB domain containing protein 18 (58 kDa repressor protein) (Transcriptional repressor RP58) (Translin associated zinc finger protein 1) (TAZ 1) (Zinc finger protein 238) (Zinc finger protein C2H2 171)
  • Length: 522  
  • Mass: 58354
  • Tissue specificity: Lymphoid tissues, testis, heart, brain, skeletal muscle, and pancreas and, at much lower level, other tissues.
• Sequence:

  MEFPDHSRHLLQCLSEQRHQGFLCDCTVLVGDAQFRAHRAVLASCSMYFHLFYKDQLDKRDIVHLNSDIVTAPAF
  ALLLEFMYEGKLQFKDLPIEDVLAAASYLHMYDIVKVCKKKLKEKATTEADSTKKEEDASSCSDKVESLSDGSSH
  IAGDLPSDEDEGEDEKLNILPSKRDLAAEPGNMWMRLPSDSAGIPQAGGEAEPHATAAGKTVASPCSSTESLSQR
  SVTSVRDSADVDCVLDLSVKSSLSGVENLNSSYFSSQDVLRSNLVQVKVEKEASCDESDVGTNDYDMEHSTVKES
  VSTNNRVQYEPAHLAPLREDSVLRELDREDKASDDEMMTPESERVQVEGGMESSLLPYVSNILSPAGQIFMCPLC
  NKVFPSPHILQIHLSTHFREQDGIRSKPAADVNVPTCSLCGKTFSCMYTLKRHERTHSGEKPYTCTQCGKSFQYS
  HNLSRHAVVHTREKPHACKWCERRFTQSGDLYRHIRKFHCELVNSLSVKSEALSLPTVRDWTLEDSSQELWK

• Structural information:
  • Protein Domains: (24..9-)
    (/note="BTB-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00037"-)
  • Interpro: IPR000210  IPR011333  IPR036236  IPR013087  
  • Prosite: PS50097 PS00028 PS50157
  • STRING: ENSP00000351539
• Other Databases: GeneCards:  ZBTB18  Malacards:  ZBTB18

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IBA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IBA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	ISS	biological process
GO:0007519	skeletal muscle tissue development	ISS	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	ISS	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0003677	DNA binding	IEA	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:0005634	nucleus	IEA	cellular component
GO:0016607	nuclear speck	IDA	cellular component
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	molecular function
GO:0000792	heterochromatin	IDA	cellular component
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0003713	transcription coactivator activity	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0005634	nucleus	TAS	cellular component
GO:0003677	DNA binding	TAS	molecular function

Diseases

Associated diseases	References
Autosomal dominant mental retardation	KEGG:H00773
Autosomal dominant mental retardation	KEGG:H00773
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881