• Gene id: 84733

Gene Summary

• Gene Symbol: CBX2   Gene   UCSC   Ensembl
• Aliases: CDCA6, M33, SRXY5
• Gene name: chromobox 2
• Alternate names: chromobox protein homolog 2, Pc class homolog, cell division cycle associated 6, chromobox homolog 2 (Pc class homolog, Drosophila), modifier 3,
• Gene location: 17q25.3 (79776253: 79787982)     Exons: 7     NC_000017.11
• Gene summary(Entrez): This gene encodes a component of the polycomb multiprotein complex, which is required to maintain the transcriptionally repressive state of many genes throughout development via chromatin remodeling and modification of histones. Disruption of this gene in
• OMIM: 602770

Protein Summary

• Protein general information: Q14781  
  • Name: Chromobox protein homolog 2
  • Length: 532  
  • Mass: 56081
• Sequence:

  MEELSSVGEQVFAAECILSKRLRKGKLEYLVKWRGWSSKHNSWEPEENILDPRLLLAFQKKEHEKEVQNRKRGKR
  PRGRPRKLTAMSSCSRRSKLKEPDAPSKSKSSSSSSSSTSSSSSSDEEDDSDLDAKRGPRGRETHPVPQKKAQIL
  VAKPELKDPIRKKRGRKPLPPEQKATRRPVSLAKVLKTARKDLGAPASKLPPPLSAPVAGLAALKAHAKEACGGP
  SAMATPENLASLMKGMASSPGRGGISWQSSIVHYMNRMTQSQAQAASRLALKAQATNKCGLGLDLKVRTQKGELG
  MSPPGSKIPKAPSGGAVEQKVGNTGGPPHTHGASRVPAGCPGPQPAPTQELSLQVLDLQSVKNGMPGVGLLARHA
  TATKGVPATNPAPGKGTGSGLIGASGATMPTDTSKSEKLASRAVAPPTPASKRDCVKGSATPSGQESRTAPGEAR
  KAATLPEMSAGEESSSSDSDPDSASPPSTGQNPSVSVQTSQDWKPTRSLIEHVFVTDVTANLITVTVKESPTSVG
  FFNLRHY

• Structural information:
  • Protein Domains: (12..7-)
    (/note="Chromo-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00053"-)
  • Interpro: IPR042796  IPR033773  IPR016197  IPR000953  IPR023780   IPR023779  
  • Prosite: PS00598 PS50013
  • PDB: 2D9U 3H91 5EPK
  • PDBsum: 2D9U 3H91 5EPK
  • DIP: 48604
  • STRING: ENSP00000308750
• Other Databases: GeneCards:  CBX2  Malacards:  CBX2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000122	negative regulation of transcription by RNA polymerase II	IBA	biological process
GO:0035102	PRC1 complex	IBA	cellular component
GO:0035064	methylated histone binding	IBA	molecular function
GO:0000792	heterochromatin	IBA	cellular component
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:0045137	development of primary sexual characteristics	IMP	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IMP	biological process
GO:0035102	PRC1 complex	IEA	cellular component
GO:0006325	chromatin organization	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0005694	chromosome	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0007548	sex differentiation	IEA	biological process
GO:0005634	nucleus	IEA	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:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0031519	PcG protein complex	IEA	cellular component
GO:0000791	euchromatin	IEA	cellular component
GO:0000792	heterochromatin	IEA	cellular component
GO:0003682	chromatin binding	IEA	molecular function
GO:0035064	methylated histone binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component

Diseases

Associated diseases	References
46,XY gonadal dysgenesis	KEGG:H00607
46,XY gonadal dysgenesis	KEGG:H00607
oral squamous cell carcinoma	PMID:24885002
Disorders of sex development	MIK: 29998616

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
29998616	Disorders/differences of sex development	p.Cys132Arg (c.394T>C), p.Cys154fs (c.460delT)		2 cases	Male infertility	NGS