• Gene id: 5253

Gene Summary

• Gene Symbol: PHF2   Gene   UCSC   Ensembl
• Aliases: CENP-35, GRC5, JHDM1E, KDM7C
• Gene name: PHD finger protein 2
• Alternate names: lysine-specific demethylase PHF2, centromere protein 35, jumonji C domain-containing histone demethylase 1E,
• Gene location: 9q22.31 (193106113: 193096464)     Exons: 5     NC_000001.11
• Gene summary(Entrez): This gene encodes a protein which contains a zinc finger-like PHD (plant homeodomain) finger, distinct from other classes of zinc finger motifs, and a hydrophobic and highly conserved domain. The PHD finger shows the typical Cys4-His-Cys3 arrangement. PHD
• OMIM: 604351

Protein Summary

• Protein general information: O75151  
  • Name: Lysine specific demethylase PHF2 (EC 1.14.11. ) (GRC5) (PHD finger protein 2)
  • Length: 1096  
  • Mass: 120775
  • Tissue specificity: Widely expressed, including in liver (at protein level). {ECO
• Sequence:

  MATVPVYCVCRLPYDVTRFMIECDACKDWFHGSCVGVEEEEAPDIDIYHCPNCEKTHGKSTLKKKRTWHKHGPGQ
  APDVKPVQNGSQLFIKELRSRTFPSAEDVVARVPGSQLTLGYMEEHGFTEPILVPKKDGLGLAVPAPTFYVSDVE
  NYVGPERSVDVTDVTKQKDCKMKLKEFVDYYYSTNRKRVLNVTNLEFSDTRMSSFVEPPDIVKKLSWVENYWPDD
  ALLAKPKVTKYCLICVKDSYTDFHIDSGGASAWYHVLKGEKTFYLIRPASANISLYERWRSASNHSEMFFADQVD
  KCYKCIVKQGQTLFIPSGWIYATLTPVDCLAFAGHFLHSLSVEMQMRAYEVERRLKLGSLTQFPNFETACWYMGK
  HLLEAFKGSHKSGKQLPPHLVQGAKILNGAFRSWTKKQALAEHEDELPEHFKPSQLIKDLAKEIRLSENASKAVR
  PEVNTVASSDEVCDGDREKEEPPSPIEATPPQSLLEKVSKKKTPKTVKMPKPSKIPKPPKPPKPPRPPKTLKLKD
  GGKKKGKKSRESASPTIPNLDLLEAHTKEALTKMEPPKKGKATKSVLSVPNKDVVHMQNDVERLEIREQTKSKSE
  AKWKYKNSKPDSLLKMEEEQKLEKSPLAGNKDNKFSFSFSNKKLLGSKALRPPTSPGVFGALQNFKEDKPKPVRD
  EYEYVSDDGELKIDEFPIRRKKNAPKRDLSFLLDKKAVLPTPVTKPKLDSAAYKSDDSSDEGSLHIDTDTKPGRN
  ARVKKESGSSAAGILDLLQASEEVGALEYNPSSQPPASPSTQEAIQGMLSMANLQASDSCLQTTWGAGQAKGSSL
  AAHGARKNGGGSGKSAGKRLLKRAAKNSVDLDDYEEEQDHLDACFKDSDYVYPSLESDEDNPIFKSRSKKRKGSD
  DAPYSPTARVGPSVPRQDRPVREGTRVASIETGLAAAAAKLSQQEEQKSKKKKSAKRKLTPNTTSPSTSTSISAG
  TTSTSTTPASTTPASTTPASTSTASSQASQEGSSPEPPPESHSSSLADHEYTAAGTFTGAQAGRTSQPMAPGVFL
  TQRRPSASSPNNNTAAKGKRTKKGMATAKQRLGKILKIHRNGKLLL

• Structural information:
  • Protein Domains: (197..35-)
    (/note="JmjC-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00538"-)
  • Interpro: IPR041070  IPR003347  IPR019786  IPR011011  IPR001965   IPR019787  IPR013083  
  • Prosite: PS51184 PS01359 PS50016
  • PDB: 3KQI 3PTR 3PU3 3PU8 3PUA 3PUS
  • PDBsum: 3KQI 3PTR 3PU3 3PU8 3PUA 3PUS
  • STRING: ENSP00000352185
• Other Databases: GeneCards:  PHF2  Malacards:  PHF2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000776	kinetochore	IDA	cellular component
GO:0035064	methylated histone binding	IDA	molecular function
GO:0035064	methylated histone binding	IDA	molecular function
GO:0032454	histone demethylase activity (H3-K9 specific)	IDA	molecular function
GO:0008270	zinc ion binding	IDA	molecular function
GO:0005730	nucleolus	IDA	cellular component
GO:0005506	iron ion binding	IDA	molecular function
GO:0032452	histone demethylase activity	IDA	NOT|molecular function
GO:0006482	protein demethylation	IDA	biological process
GO:0003713	transcription coactivator activity	IDA	molecular function
GO:0061188	negative regulation of ribosomal DNA heterochromatin assembly	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001889	liver development	TAS	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0006325	chromatin organization	IEA	biological process
GO:0000776	kinetochore	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0051213	dioxygenase activity	IEA	molecular function
GO:0000775	chromosome, centromeric region	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005634	nucleus	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0033169	histone H3-K9 demethylation	IEA	biological process
GO:0005730	nucleolus	IEA	cellular component
GO:0000777	condensed chromosome kinetochore	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component

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)
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