• Gene id: 57209

Gene Summary

• Gene Symbol: ZNF248   Gene   UCSC   Ensembl
• Aliases: bA162G10.3
• Gene name: zinc finger protein 248
• Alternate names: zinc finger protein 248, KRAB protein domain, Kruppel-type zinc finger protein, bA162G10.3 (zinc finger protein),
• Gene location: 10p11.21 (37858201: 37758451)     Exons: 13     NC_000010.11

Protein Summary

• Protein general information: Q8NDW4  
  • Name: Zinc finger protein 248
  • Length: 579  
  • Mass: 67087
• Sequence:

  MNKSQEQVSFKDVCVDFTQEEWYLLDPAQKILYRDVILENYSNLVSVGYCITKPEVIFKIEQGEEPWILEKGFPS
  QCHPERKWKVDDVLESSQENEDDHFWELLFHNNKTVSVENGDRGSKTFNLGTDPVSLRNYPYKICDSCEMNLKNI
  SGLIISKKNCSRKKPDEFNVCEKLLLDIRHEKIPIGEKSYKYDQKRNAINYHQDLSQPSFGQSFEYSKNGQGFHD
  EAAFFTNKRSQIGETVCKYNECGRTFIESLKLNISQRPHLEMEPYGCSICGKSFCMNLRFGHQRALTKDNPYEYN
  EYGEIFCDNSAFIIHQGAYTRKILREYKVSDKTWEKSALLKHQIVHMGGKSYDYNENGSNFSKKSHLTQLRRAHT
  GEKTFECGECGKTFWEKSNLTQHQRTHTGEKPYECTECGKAFCQKPHLTNHQRTHTGEKPYECKQCGKTFCVKSN
  LTEHQRTHTGEKPYECNACGKSFCHRSALTVHQRTHTGEKPFICNECGKSFCVKSNLIVHQRTHTGEKPYKCNEC
  GKTFCEKSALTKHQRTHTGEKPYECNACGKTFSQRSVLTKHQRIHTRVKALSTS

• Structural information:
  • Protein Domains: (8..7-)
    (/note="KRAB-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00119"-)
  • Interpro: IPR001909  IPR036051  IPR036236  IPR013087  
  • Prosite: PS50805 PS00028 PS50157
  • CDD: cd07765
  • STRING: ENSP00000379208
• Other Databases: GeneCards:  ZNF248  Malacards:  ZNF248

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:0003677	DNA binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05168	Herpes simplex virus 1 infection

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			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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq