• Gene id: 23221

Gene Summary

• Gene Symbol: RHOBTB2   Gene   UCSC   Ensembl
• Aliases: DBC2, EIEE64, p83
• Gene name: Rho related BTB domain containing 2
• Alternate names: rho-related BTB domain-containing protein 2, deleted in breast cancer 2 gene protein,
• Gene location: 8p21.3 (22987250: 23020198)     Exons: 15     NC_000008.11
• Gene summary(Entrez): The protein encoded by this gene is a small Rho GTPase and a candidate tumor suppressor. The encoded protein interacts with the cullin-3 protein, a ubiquitin E3 ligase necessary for mitotic cell division. This protein inhibits the growth and spread of som
• OMIM: 607703

Protein Summary

• Protein general information: Q9BYZ6  
  • Name: Rho related BTB domain containing protein 2 (Deleted in breast cancer 2 gene protein) (p83)
  • Length: 727  
  • Mass: 82626
  • Tissue specificity: Ubiquitous, with highest levels in neural tissues. Expression is also detected in fetal lung, heart, and brain. {ECO
• Sequence:

  MDSDMDYERPNVETIKCVVVGDNAVGKTRLICARACNATLTQYQLLATHVPTVWAIDQYRVCQEVLERSRDVVDD
  VSVSLRLWDTFGDHHKDRRFAYGRSDVVVLCFSIANPNSLHHVKTMWYPEIKHFCPRAPVILVGCQLDLRYADLE
  AVNRARRPLARPIKPNEILPPEKGREVAKELGIPYYETSVVAQFGIKDVFDNAIRAALISRRHLQFWKSHLRNVQ
  RPLLQAPFLPPKPPPPIIVVPDPPSSSEECPAHLLEDPLCADVILVLQERVRIFAHKIYLSTSSSKFYDLFLMDL
  SEGELGGPSEPGGTHPEDHQGHSDQHHHHHHHHHGRDFLLRAASFDVCESVDEAGGSGPAGLRASTSDGILRGNG
  TGYLPGRGRVLSSWSRAFVSIQEEMAEDPLTYKSRLMVVVKMDSSIQPGPFRAVLKYLYTGELDENERDLMHIAH
  IAELLEVFDLRMMVANILNNEAFMNQEITKAFHVRRTNRVKECLAKGTFSDVTFILDDGTISAHKPLLISSCDWM
  AAMFGGPFVESSTREVVFPYTSKSCMRAVLEYLYTGMFTSSPDLDDMKLIILANRLCLPHLVALTEQYTVTGLME
  ATQMMVDIDGDVLVFLELAQFHCAYQLADWCLHHICTNYNNVCRKFPRDMKAMSPENQEYFEKHRWPPVWYLKEE
  DHYQRARKEREKEDYLHLKRQPKRRWLFWNSPSSPSSSAASSSSPSSSSAVV

• Structural information:
  • Protein Domains: (266..44-)
    (/note="BTB-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00037-)
    (500..56-)
    (/note="BTB-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00037"-)
  • Interpro: IPR000210  IPR027417  IPR011333  IPR001806  IPR003578  
  • Prosite: PS50097 PS51420
  • STRING: ENSP00000427926
• Other Databases: GeneCards:  RHOBTB2  Malacards:  RHOBTB2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005525	GTP binding	IBA	molecular function
GO:0003924	GTPase activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003924	GTPase activity	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0007264	small GTPase mediated signal transduction	IEA	biological process
GO:0005525	GTP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0051056	regulation of small GTPase mediated signal transduction	TAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04120	Ubiquitin mediated proteolysis

Diseases

Associated diseases	References
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