• Gene id: 8535

Gene Summary

• Gene Symbol: CBX4   Gene   UCSC   Ensembl
• Aliases: NBP16, PC2
• Gene name: chromobox 4
• Alternate names: E3 SUMO-protein ligase CBX4, NS5ATP1-binding protein 16, Pc class 2 homolog, chromobox homolog 4 (Pc class homolog, Drosophila), chromobox protein homolog 4, chromobox-like protein 4, polycomb 2 homolog,
• Gene location: 17q25.3 (79839439: 79833155)     Exons: 6     NC_000017.11
• OMIM: 606566

Protein Summary

• Protein general information: O00257  
  • Name: E3 SUMO protein ligase CBX4 (EC 2.3.2. ) (Chromobox protein homolog 4) (Polycomb 2 homolog) (Pc2) (hPc2)
  • Length: 560  
  • Mass: 61368
  • Tissue specificity: Ubiquitous.
• Sequence:

  MELPAVGEHVFAVESIEKKRIRKGRVEYLVKWRGWSPKYNTWEPEENILDPRLLIAFQNRERQEQLMGYRKRGPK
  PKPLVVQVPTFARRSNVLTGLQDSSTDNRAKLDLGAQGKGQGHQYELNSKKHHQYQPHSKERAGKPPPPGKSGKY
  YYQLNSKKHHPYQPDPKMYDLQYQGGHKEAPSPTCPDLGAKSHPPDKWAQGAGAKGYLGAVKPLAGAAGAPGKGS
  EKGPPNGMMPAPKEAVTGNGIGGKMKIVKNKNKNGRIVIVMSKYMENGMQAVKIKSGEVAEGEARSPSHKKRAAD
  ERHPPADRTFKKAAGAEEKKVEAPPKRREEEVSGVSDPQPQDAGSRKLSPTKEAFGEQPLQLTTKPDLLAWDPAR
  NTHPPSHHPHPHPHHHHHHHHHHHHAVGLNLSHVRKRCLSETHGEREPCKKRLTARSISTPTCLGGSPAAERPAD
  LPPAAALPQPEVILLDSDLDEPIDLRCVKTRSEAGEPPSSLQVKPETPASAAVAVAAAAAPTTTAEKPPAEAQDE
  PAESLSEFKPFFGNIIITDVTANCLTVTFKEYVTV

• Structural information:
  • Protein Domains: (11..6-)
    (/note="Chromo-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00053"-)
  • Interpro: IPR033773  IPR016197  IPR000953  IPR017984  IPR023780   IPR023779  
  • Prosite: PS00598 PS50013
  • PDB: 2K28 3I8Z 5EPL
  • PDBsum: 2K28 3I8Z 5EPL
  • DIP: 42042
  • STRING: ENSP00000269397
• Other Databases: GeneCards:  CBX4  Malacards:  CBX4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0035102	PRC1 complex	IDA	cellular component
GO:0035102	PRC1 complex	IDA	cellular component
GO:0031519	PcG protein complex	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0006325	chromatin organization	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0043066	negative regulation of apoptotic process	TAS	biological process
GO:0003714	transcription corepressor activity	TAS	molecular function
GO:0005634	nucleus	TAS	cellular component
GO:0032183	SUMO binding	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0019789	SUMO transferase activity	EXP	molecular function
GO:0019789	SUMO transferase activity	EXP	molecular function
GO:0019789	SUMO transferase activity	EXP	molecular function
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:0005654	nucleoplasm	TAS	cellular component
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:0005654	nucleoplasm	TAS	cellular component
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: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:0003682	chromatin binding	IEA	molecular function
GO:0032183	SUMO binding	IEA	molecular function
GO:0035064	methylated histone binding	IEA	molecular function
GO:0051219	phosphoprotein binding	IEA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0003727	single-stranded RNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0016604	nuclear body	IEA	cellular component
GO:0016925	protein sumoylation	IEA	biological process
GO:0016607	nuclear speck	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0016925	protein sumoylation	IEA	biological process
GO:0019899	enzyme binding	IPI	molecular function

Diseases

Associated diseases	References
hepatocellular carcinoma	PMID:23943028
hepatocellular carcinoma	PMID:24838576
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq