• Gene id: 84295

Gene Summary

• Gene Symbol: PHF6   Gene   UCSC   Ensembl
• Aliases: BFLS, BORJ, CENP-31
• Gene name: PHD finger protein 6
• Alternate names: PHD finger protein 6, PHD-like zinc finger protein, centromere protein 31,
• Gene location: Xq26.2 (49620625: 49618529)     Exons: 2     NC_000014.9
• Gene summary(Entrez): This gene is a member of the plant homeodomain (PHD)-like finger (PHF) family. It encodes a protein with two PHD-type zinc finger domains, indicating a potential role in transcriptional regulation, that localizes to the nucleolus. Mutations affecting the
• OMIM: 300414

Protein Summary

• Protein general information: Q8IWS0  
  • Name: PHD finger protein 6 (PHD like zinc finger protein)
  • Length: 365  
  • Mass: 41290
  • Tissue specificity: Ubiquitously expressed. {ECO
• Sequence:

  MSSSVEQKKGPTRQRKCGFCKSNRDKECGQLLISENQKVAAHHKCMLFSSALVSSHSDNESLGGFSIEDVQKEIK
  RGTKLMCSLCHCPGATIGCDVKTCHRTYHYHCALHDKAQIREKPSQGIYMVYCRKHKKTAHNSEADLEESFNEHE
  LEPSSPKSKKKSRKGRPRKTNFKGLSEDTRSTSSHGTDEMESSSYRDRSPHRSSPSDTRPKCGFCHVGEEENEAR
  GKLHIFNAKKAAAHYKCMLFSSGTVQLTTTSRAEFGDFDIKTVLQEIKRGKRMKCTLCSQPGATIGCEIKACVKT
  YHYHCGVQDKAKYIENMSRGIYKLYCKNHSGNDERDEEDEERESKSRGKVEIDQQQLTQQQLNGN

• Structural information:
  • Interpro: IPR034732  IPR001965  IPR013083  
  • Prosite: PS51805
  • PDB: 4NN2 4R7A
  • PDBsum: 4NN2 4R7A
  • STRING: ENSP00000329097
• Other Databases: GeneCards:  PHF6  Malacards:  PHF6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0042393	histone binding	IBA	molecular function
GO:0005654	nucleoplasm	IBA	cellular component
GO:0042826	histone deacetylase binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IBA	molecular function
GO:0000776	kinetochore	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0005694	chromosome	IEA	cellular component
GO:0000775	chromosome, centromeric region	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0001835	blastocyst hatching	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0000777	condensed chromosome kinetochore	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005730	nucleolus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0043021	ribonucleoprotein complex binding	IPI	molecular function
GO:0043021	ribonucleoprotein complex binding	IPI	molecular function
GO:0019899	enzyme binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051219	phosphoprotein binding	IPI	molecular function
GO:0042393	histone binding	IPI	molecular function
GO:0015631	tubulin binding	IPI	molecular function
GO:0097110	scaffold protein binding	IPI	molecular function
GO:0043021	ribonucleoprotein complex binding	IPI	molecular function
GO:0043021	ribonucleoprotein complex binding	IPI	molecular function
GO:0043021	ribonucleoprotein complex binding	IPI	molecular function
GO:0043021	ribonucleoprotein complex binding	IPI	molecular function
GO:0042826	histone deacetylase binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042393	histone binding	IPI	molecular function
GO:0042393	histone binding	IPI	molecular function
GO:0042393	histone binding	IPI	molecular function
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Borjeson-Forssman-Lehmann syndrome	KEGG:H01915
Borjeson-Forssman-Lehmann syndrome	KEGG:H01915
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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