• Gene id: 7546

Gene Summary

• Gene Symbol: ZIC2   Gene   UCSC   Ensembl
• Aliases: HPE5
• Gene name: Zic family member 2
• Alternate names: zinc finger protein ZIC 2, Zic family member 2 (odd-paired homolog, Drosophila), Zinc finger protein of the cerebellum 2,
• Gene location: 13q32.3 (99981783: 99986764)     Exons: 3     NC_000013.11
• Gene summary(Entrez): This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. This protein functions as a transcriptional repressor and may regulate tissue specific expression of dopamine receptor D1. Expansion of an alanine repeat in the C-terminus of
• OMIM: 603073

Protein Summary

• Protein general information: O95409  
  • Name: Zinc finger protein ZIC 2 (Zinc finger protein of the cerebellum 2)
  • Length: 532  
  • Mass: 55006
• Sequence:

  MLLDAGPQFPAIGVGSFARHHHHSAAAAAAAAAEMQDRELSLAAAQNGFVDSAAAHMGAFKLNPGAHELSPGQSS
  AFTSQGPGAYPGSAAAAAAAAALGPHAAHVGSYSGPPFNSTRDFLFRSRGFGDSAPGGGQHGLFGPGAGGLHHAH
  SDAQGHLLFPGLPEQHGPHGSQNVLNGQMRLGLPGEVFGRSEQYRQVASPRTDPYSAAQLHNQYGPMNMNMGMNM
  AAAAAHHHHHHHHHPGAFFRYMRQQCIKQELICKWIDPEQLSNPKKSCNKTFSTMHELVTHVSVEHVGGPEQSNH
  VCFWEECPREGKPFKAKYKLVNHIRVHTGEKPFPCPFPGCGKVFARSENLKIHKRTHTGEKPFQCEFEGCDRRFA
  NSSDRKKHMHVHTSDKPYLCKMCDKSYTHPSSLRKHMKVHESSPQGSESSPAASSGYESSTPPGLVSPSAEPQSS
  SNLSPAAAAAAAAAAAAAAAVSAVHRGGGSGSGGAGGGSGGGSGSGGGGGGAGGGGGGSSGGGSGTAGGHSGLSS
  NFNEWYV

• Structural information:
  • Interpro: IPR036236  IPR013087  IPR041643  
  • Prosite: PS00028 PS50157
  • STRING: ENSP00000365514
• Other Databases: GeneCards:  ZIC2  Malacards:  ZIC2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007417	central nervous system development	IBA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	ISS	biological process
GO:0045892	negative regulation of transcription, DNA-templated	ISS	biological process
GO:0007601	visual perception	ISS	biological process
GO:0003700	DNA-binding transcription factor activity	ISS	molecular function
GO:0051091	positive regulation of DNA-binding transcription factor activity	ISS	biological process
GO:0031490	chromatin DNA binding	ISS	molecular function
GO:0005737	cytoplasm	ISS	cellular component
GO:0005634	nucleus	ISS	cellular component
GO:0003677	DNA binding	ISS	molecular function
GO:0030154	cell differentiation	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0007275	multicellular organism development	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0007399	nervous system development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0007420	brain development	TAS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component

Diseases

Associated diseases	References
Holoprosencephaly	KEGG:H00267
Holoprosencephaly	KEGG:H00267
Holoprosencephaly	PMID:22847929
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray