• Gene id: 7547

Gene Summary

• Gene Symbol: ZIC3   Gene   UCSC   Ensembl
• Aliases: HTX, HTX1, VACTERLX, ZNF203
• Gene name: Zic family member 3
• Alternate names: zinc finger protein ZIC 3, Zic family member 3 (odd-paired homolog, Drosophila), heterotaxy 1, zinc finger protein 203, zinc finger protein of the cerebellum 3,
• Gene location: Xq26.3 (137566126: 137577690)     Exons: 4     NC_000023.11
• Gene summary(Entrez): This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. This nuclear protein probably functions as a transcription factor in early stages of left-right body axis formation. Mutations in this gene cause X-linked visceral heterotaxy,
• OMIM: 300771

Protein Summary

• Protein general information: O60481  
  • Name: Zinc finger protein ZIC 3 (Zinc finger protein 203) (Zinc finger protein of the cerebellum 3)
  • Length: 467  
  • Mass: 50569
• Sequence:

  MTMLLDGGPQFPGLGVGSFGAPRHHEMPNREPAGMGLNPFGDSTHAAAAAAAAAAFKLSPAAAHDLSSGQSSAFT
  PQGSGYANALGHHHHHHHHHHHTSQVPSYGGAASAAFNSTREFLFRQRSSGLSEAASGGGQHGLFAGSASSLHAP
  AGIPEPPSYLLFPGLHEQGAGHPSPTGHVDNNQVHLGLRGELFGRADPYRPVASPRTDPYAAGAQFPNYSPMNMN
  MGVNVAAHHGPGAFFRYMRQPIKQELSCKWIDEAQLSRPKKSCDRTFSTMHELVTHVTMEHVGGPEQNNHVCYWE
  ECPREGKSFKAKYKLVNHIRVHTGEKPFPCPFPGCGKIFARSENLKIHKRTHTGEKPFKCEFEGCDRRFANSSDR
  KKHMHVHTSDKPYICKVCDKSYTHPSSLRKHMKVHESQGSDSSPAASSGYESSTPPAIASANSKDTTKTPSAVQT
  STSHNPGLPPNFNEWYV

• Structural information:
  • Interpro: IPR036236  IPR013087  IPR041643  
  • Prosite: PS00028 PS50157
  • PDB: 2EJ4 2RPC
  • PDBsum: 2EJ4 2RPC
  • STRING: ENSP00000287538
• Other Databases: GeneCards:  ZIC3  Malacards:  ZIC3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0007417	central nervous system development	IBA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0045944	positive 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:0005737	cytoplasm	ISS	cellular component
GO:0005634	nucleus	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0030154	cell differentiation	IEA	biological process
GO:0007399	nervous system development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0007275	multicellular organism development	IEA	biological process
GO:0035019	somatic stem cell population maintenance	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0007389	pattern specification process	IEA	biological process
GO:0007368	determination of left/right symmetry	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0035545	determination of left/right asymmetry in nervous system	IEA	biological process
GO:0009952	anterior/posterior pattern specification	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0001947	heart looping	IEA	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0001947	heart looping	IMP	biological process
GO:0071907	determination of digestive tract left/right asymmetry	IMP	biological process
GO:0071910	determination of liver left/right asymmetry	IMP	biological process
GO:0007368	determination of left/right symmetry	IMP	biological process
GO:0030324	lung development	IMP	biological process
GO:0035469	determination of pancreatic left/right asymmetry	IMP	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04550	Signaling pathways regulating pluripotency of stem cells

Diseases

Associated diseases	References
Heterotaxy	KEGG:H00632
Congenital heart defects, multiple type	KEGG:H02199
Heterotaxy	KEGG:H00632
Congenital heart defects, multiple type	KEGG:H02199
VACTERL/VATER association	KEGG:H01195
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881