• Gene id: 84146

Gene Summary

• Gene Symbol: ZNF644   Gene   UCSC   Ensembl
• Aliases: BM-005, MYP21, NatF, ZEP-2
• Gene name: zinc finger protein 644
• Alternate names: zinc finger protein 644, zinc finger motif enhancer binding protein 2,
• Gene location: 1p22.2 (91022266: 90915297)     Exons: 11     NC_000001.11
• Gene summary(Entrez): The protein encoded by this gene is a zinc finger transcription factor that may play a role in eye development. Defects in this gene have been associated with high myopia. Three transcript variants encoding two different isoforms have been found for this
• OMIM: 609855

Protein Summary

• Protein general information: Q9H582  
  • Name: Zinc finger protein 644 (Zinc finger motif enhancer binding protein 2) (Zep 2)
  • Length: 1327  
  • Mass: 149565
  • Tissue specificity: Expressed in liver, placenta, retina and retinal pigment epithelium. {ECO
• Sequence:

  MRSFLQQDVNKTKSRLNVLNGLANNMDDLKINTDITGAKEELLDDNNFISDKESGVHKPKDCQTSFQKNNTLTLP
  EELSKDKSENALSGGQSSLFIHAGAPTVSSENFILPKGAAVNGPVSHSSLTKTSNMNKGSVSLTTGQPVDQPTTE
  SCSTLKVAADLQLSTPQKASQHQVLFLLSDVAHAKNPTHSNKKLPTSASVGCDIQNSVGSNIKSDGTLINQVEVG
  EDGEDLLVKDDCVNTVTGISSGTDGFRSENDTNWDPQKEFIQFLMTNEETVDKAPPHSKIGLEKKRKRKMDVSKI
  TRYTEDCFSDSNCVPNKSKMQEVDFLEQNEELQAVDSQKYALSKVKPESTDEDLESVDAFQHLIYNPDKCGEESS
  PVHTSTFLSNTLKKKCEESDSESPATFSTEEPSFYPCTKCNVNFREKKHLHRHMMYHLDGNSHFRHLNVPRPYAC
  RECGRTFRDRNSLLKHMIIHQERRQKLMEEIRELKELQDEGRSARLQCPQCVFGTNCPKTFVQHAKTHEKDKRYY
  CCEECNFMAVTENELECHRGIAHGAVVKCPMVTSDIAQRKTQKKTFMKDSVVGSSKKSATYICKMCPFTTSAKSV
  LKKHTEYLHSSSCVDSFGSPLGLDKRKNDILEEPVDSDSTKTLTKQQSTTFPKNSALKQDVKRTFGSTSQSSSFS
  KIHKRPHRIQKARKSIAQSGVNMCNQNSSPHKNVTIKSSVDQKPKYFHQAAKEKSNAKANSHYLYRHKYENYRMI
  KKSGESYPVHFKKEEASSLNSLHLFSSSSNSHNNFISDPHKPDAKRPESFKDHRRVAVKRVIKESKKESSVGGED
  LDSYPDFLHKMTVVVLQKLNSAEKKDSYETEDESSWDNVELGDYTTQAIEDETYSDINQEHVNLFPLFKSKVEGQ
  EPGENATLSYDQNDGFYFEYYEDTGSNNFLHEIHDPQHLETADASLSKHSSVFHWTDLSLEKKSCPYCPATFETG
  VGLSNHVRGHLHRAGLSYEARHVVSPEQIATSDKMQHFKRTGTGTPVKRVRKAIEKSETTSEHTCQLCGGWFDTK
  IGLSNHVRGHLKRLGKTKWDAHKSPICVLNEMMQNEEKYEKILKALNSRRIIPRPFVAQKLASSDDFISQNVIPL
  EAYRNGLKTEALSVSASEEEGLNFLNEYDETKPELPSGKKNQSLTLIELLKNKRMGEERNSAISPQKIHNQTARK
  RFVQKCVLPLNEDSPLMYQPQKMDLTMHSALDCKQKKSRSRSGSKKKMLTLPHGADEVYILRCRFCGLVFRGPLS
  VQEDWIKHLQRHIVNANLPRTGAGMVEVTSLLKKPASITETSFSLLMAEAAS

• Structural information:
  • Interpro: IPR036236  IPR013087  
  • Prosite: PS00028 PS50157
  • STRING: ENSP00000337008
• Other Databases: GeneCards:  ZNF644  Malacards:  ZNF644

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IBA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IBA	biological process
GO:0003700	DNA-binding transcription factor activity	IBA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
Myopia	KEGG:H02041
Myopia	KEGG:H02041
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray