• Gene id: 23119

Gene Summary

• Gene Symbol: HIC2   Gene   UCSC   Ensembl
• Aliases: HRG22, ZBTB30, ZNF907
• Gene name: HIC ZBTB transcriptional repressor 2
• Alternate names: hypermethylated in cancer 2 protein, HIC1-related gene on chromosome 22 protein, hic-2, hic-3, zinc finger and BTB domain-containing protein 30,
• Gene location: 22q11.21 (21417370: 21451462)     Exons: 5     NC_000022.11
• OMIM: 607712

Protein Summary

• Protein general information: Q96JB3  
  • Name: Hypermethylated in cancer 2 protein (Hic 2) (HIC1 related gene on chromosome 22 protein) (Hic 3) (Zinc finger and BTB domain containing protein 30)
  • Length: 615  
  • Mass: 66156
  • Tissue specificity: Highest levels in cerebellum.
• Sequence:

  MVSGPLALRWCAWAGRGDMGPDMELPSHSKQLLLQLNQQRTKGFLCDVIIMVENSIFRAHKNVLAASSIYFKSLV
  LHDNLINLDTDMVSSTVFQQILDFIYTGKLLPSDQPAEPNFSTLLTAASYLQLPELAALCRRKLKRAGKPFGSGR
  AGSTGMGRPPRSQRLSTASVIQARYQGLVDGRKGAHAPQELPQAKGSDDELFLGGSNQDSVQGLGRAVCPAGGEA
  GLGGCSSSTNGSSGGCEQELGLDLSKKSPPLPPATPGPHLTPDDAAQLSDSQHGSPPAASAPPVANSASYSELGG
  TPDEPMDLEGAEDNHLSLLEAPGGQPRKSLRHSTRKKEWGKKEPVAGSPFERREAGPKGPCPGEEGEGVGDRVPN
  GILASGAGPSGPYGEPPYPCKEEEENGKDASEDSAQSGSEGGSGHASAHYMYRQEGYETVSYGDNLYVCIPCAKG
  FPSSEQLNAHVETHTEEELFIKEEGAYETGSGGAEEEAEDLSAPSAAYTAEPRPFKCSVCEKTYKDPATLRQHEK
  THWLTRPFPCNICGKMFTQRGTMTRHMRSHLGLKPFACDECGMRFTRQYRLTEHMRVHSGEKPYECQLCGGKFTQ
  QRNLISHLRMHTSPS

• Structural information:
  • Protein Domains: (46..10-)
    (/note="BTB-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00037"-)
  • Interpro: IPR000210  IPR011333  IPR036236  IPR013087  
  • Prosite: PS50097 PS00028 PS50157
  • STRING: ENSP00000387757
• Other Databases: GeneCards:  HIC2  Malacards:  HIC2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0005654	nucleoplasm	IBA	cellular component
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
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:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0003677	DNA binding	NAS	molecular function
GO:0045892	negative regulation of transcription, DNA-templated	NAS	biological process
GO:0008022	protein C-terminus binding	IPI	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq