• Gene id: 51230

Gene Summary

• Gene Symbol: PHF20   Gene   UCSC   Ensembl
• Aliases: C20orf104, GLEA2, HCA58, NZF, TDRD20A, TZP
• Gene name: PHD finger protein 20
• Alternate names: PHD finger protein 20, glioma-expressed antigen 2, hepatocellular carcinoma-associated antigen 58, novel zinc finger protein, transcription factor TZP, tudor domain containing 20A,
• Gene location: 20q11.22-q11.23 (35772002: 35950371)     Exons: 23     NC_000020.11
• OMIM: 610335

Protein Summary

• Protein general information: Q9BVI0  
  • Name: PHD finger protein 20 (Glioma expressed antigen 2) (Hepatocellular carcinoma associated antigen 58) (Novel zinc finger protein) (Transcription factor TZP)
  • Length: 1012  
  • Mass: 115386
  • Tissue specificity: Expressed in heart, kidney, liver, lung, pancreas, placenta, spleen and testis. Not expressed in brain, skeletal muscle, colon, ovary, prostate, small intestine and thymus. Expressed in colon and ovary cancer cell lines while it is not
• Sequence:

  MTKHPPNRRGISFEVGAQLEARDRLKNWYPAHIEDIDYEEGKVLIHFKRWNHRYDEWFCWDSPYLRPLEKIQLRK
  EGLHEEDGSSEFQINEQVLACWSDCRFYPAKVTAVNKDGTYTVKFYDGVVQTVKHIHVKAFSKDQNIVGNARPKE
  TDHKSLSSSPDKREKFKEQRKATVNVKKDKEDKPLKTEKRPKQPDKEGKLICSEKGKVSEKSLPKNEKEDKENIS
  ENDREYSGDAQVDKKPENDIVKSPQENLREPKRKRGRPPSIAPTAVDSNSQTLQPITLELRRRKISKGCEVPLKR
  PRLDKNSSQEKSKNYSENTDKDLSRRRSSRLSTNGTHEILDPDLVVSDLVDTDPLQDTLSSTKESEEGQLKSALE
  AGQVSSALTCHSFGDGSGAAGLELNCPSMGENTMKTEPTSPLVELQEISTVEVTNTFKKTDDFGSSNAPAVDLDH
  KFRCKVVDCLKFFRKAKLLHYHMKYFHGMEKSLEPEESPGKRHVQTRGPSASDKPSQETLTRKRVSASSPTTKDK
  EKNKEKKFKEFVRVKPKKKKKKKKKTKPECPCSEEISDTSQEPSPPKAFAVTRCGSSHKPGVHMSPQLHGPESGH
  HKGKVKALEEDNLSESSSESFLWSDDEYGQDVDVTTNPDEELDGDDRYDFEVVRCICEVQEENDFMIQCEECQCW
  QHGVCMGLLEENVPEKYTCYVCQDPPGQRPGFKYWYDKEWLSRGHMHGLAFLEENYSHQNAKKIVATHQLLGDVQ
  RVIEVLHGLQLKMSILQSREHPDLPLWCQPWKQHSGEGRSHFRNIPVTDTRSKEEAPSYRTLNGAVEKPRPLALP
  LPRSVEESYITSEHCYQKPRAYYPAVEQKLVVETRGSALDDAVNPLHENGDDSLSPRLGWPLDQDRSKGDSDPKP
  GSPKVKEYVSKKALPEEAPARKLLDRGGEGLLSSQHQWQFNLLTHVESLQDEVTHRMDSIEKELDVLESWLDYTG
  ELEPPEPLARLPQLKHCIKQLLMDLGKVQQIALCCST

• Structural information:
  • Protein Domains: (4..6-)
    (/note="Tudor-1)
    (83..14-)
    (/note="Tudor-2")
  • Interpro: IPR041297  IPR022255  IPR037915  IPR002999  IPR019786   IPR013087  IPR011011  IPR001965  IPR013083  
  • Prosite: PS01359 PS00028 PS50157
  • PDB: 2LDM 3P8D 3Q1J 3QII 3SD4 5TAB 5TBN
  • PDBsum: 2LDM 3P8D 3Q1J 3QII 3SD4 5TAB 5TBN
  • STRING: ENSP00000363124
• Other Databases: GeneCards:  PHF20  Malacards:  PHF20

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0043995	histone acetyltransferase activity (H4-K5 specific)	IBA	contributes to
GO:0046972	histone acetyltransferase activity (H4-K16 specific)	IBA	contributes to
GO:0043996	histone acetyltransferase activity (H4-K8 specific)	IBA	contributes to
GO:0043984	histone H4-K16 acetylation	IBA	biological process
GO:0043982	histone H4-K8 acetylation	IBA	biological process
GO:0043981	histone H4-K5 acetylation	IBA	biological process
GO:0000123	histone acetyltransferase complex	IBA	cellular component
GO:0071339	MLL1 complex	IDA	cellular component
GO:0043995	histone acetyltransferase activity (H4-K5 specific)	IDA	contributes to
GO:0046972	histone acetyltransferase activity (H4-K16 specific)	IDA	contributes to
GO:0043996	histone acetyltransferase activity (H4-K8 specific)	IDA	contributes to
GO:0043984	histone H4-K16 acetylation	IDA	biological process
GO:0043982	histone H4-K8 acetylation	IDA	biological process
GO:0043981	histone H4-K5 acetylation	IDA	biological process
GO:0000123	histone acetyltransferase complex	IDA	cellular component
GO:0071339	MLL1 complex	IEA	cellular component
GO:0006325	chromatin organization	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:1901796	regulation of signal transduction by p53 class mediator	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0031965	nuclear membrane	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 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
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray