• Gene id: 23466

Gene Summary

• Gene Symbol: CBX6   Gene   UCSC   Ensembl
• Gene name: chromobox 6
• Alternate names: chromobox protein homolog 6, chromobox homolog 6,
• Gene location: 22q13.1 (38872215: 38861421)     Exons: 19     NC_000022.11
• OMIM: 617438

Protein Summary

• Protein general information: O95503  
  • Name: Chromobox protein homolog 6
  • Length: 412  
  • Mass: 43898
• Sequence:

  MELSAVGERVFAAESIIKRRIRKGRIEYLVKWKGWAIKYSTWEPEENILDSRLIAAFEQKERERELYGPKKRGPK
  PKTFLLKARAQAEALRISDVHFSVKPSASASSPKLHSSAAVHRLKKDIRRCHRMSRRPLPRPDPQGGSPGLRPPI
  SPFSETVRIINRKVKPREPKRNRIILNLKVIDKGAGGGGAGQGAGALARPKVPSRNRVIGKSKKFSESVLRTQIR
  HMKFGAFALYKPPPAPLVAPSPGKAEASAPGPGLLLAAPAAPYDARSSGSSGCPSPTPQSSDPDDTPPKLLPETV
  SPSAPSWREPEVLDLSLPPESAATSKRAPPEVTAAAGPAPPTAPEPAGASSEPEAGDWRPEMSPCSNVVVTDVTS
  NLLTVTIKEFCNPEDFEKVAAGVAGAAGGGGSIGASK

• 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: 3GV6 3I90
  • PDBsum: 3GV6 3I90
  • DIP: 48605
  • STRING: ENSP00000384490
• Other Databases: GeneCards:  CBX6  Malacards:  CBX6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031519	PcG protein complex	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	IMP	biological process
GO:0006325	chromatin organization	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005694	chromosome	IEA	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:0005634	nucleus	IEA	cellular component
GO:0003727	single-stranded RNA binding	IEA	molecular function
GO:0000792	heterochromatin	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component

Diseases

Associated diseases	References
Glioblastoma multiforme	PMID:24260522
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq