• Gene id: 147657

Gene Summary

• Gene Symbol: ZNF480   Gene   UCSC   Ensembl
• Gene name: zinc finger protein 480
• Alternate names: zinc finger protein 480,
• Gene location: 19q13.41 (4263978: 4163817)     Exons: 29     NC_000017.11
• OMIM: 613910

Protein Summary

• Protein general information: Q8WV37  
  • Name: Zinc finger protein 480
  • Length: 535  
  • Mass: 61708
  • Tissue specificity: Expressed in fetal heart, heart, skeletal muscle, pancreas and placenta. {ECO
• Sequence:

  MLCDEKAQKRRKRKAKESGMALPQGHLTFRDVAIEFSQAEWKCLDPAQRALYKDVMLENYRNLVSLGISLPDLNI
  NSMLEQRREPWSGESEVKIAKNSDGRECIKGVNTGSSYALGSNAEDKPIKKQLGVSFHLHLSELELFPDERVING
  CNQVENFINHSSSVSCLQEMSSSVKTPIFNRNDFDDSSFLPQEQKVHLREKPYECNEHSKVFRVSSSLTKHQVIH
  TVEKPYKCNSCGKVFSRNSHLAEHCRIHTGEKPYKCNVCGKVFSYNSNFARHQRIHTREKPYECNECGKVFSNNS
  YLARHQRIHAEEKPYKCNECGKGFSHKSSLANHWRIYTGEKPYKCDECGKAFYRIALLVRHQKIHTGEKPYKCNE
  CGKVFIQNSHLAQHWRIHTGEKPYKCNECGKVFNQLSNLARHRRIHTGEKPYKCNECGKAFSEYSGLSAHLVIHT
  GEKPYKCSECGKAFRHKLSLTNHQRIHTGERPYKCNECGKVFNRIAHLARHRKIHTGEKPYKCNECGKAFSRISY
  LAQHWTIHMG

• Structural information:
  • Protein Domains: (27..9-)
    (/note="KRAB-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00119"-)
  • Interpro: IPR001909  IPR036051  IPR036236  IPR013087  
  • Prosite: PS50805 PS00028 PS50157
  • CDD: cd07765
  • STRING: ENSP00000471754
• Other Databases: GeneCards:  ZNF480  Malacards:  ZNF480

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05168	Herpes simplex virus 1 infection

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq