• Gene id: 10435

Gene Summary

• Gene Symbol: CDC42EP2   Gene   UCSC   Ensembl
• Aliases: BORG1, CEP2
• Gene name: CDC42 effector protein 2
• Alternate names: cdc42 effector protein 2, CDC42 effector protein (Rho GTPase binding) 2, CRIB-containing BOGR1 protein, binder of Rho GTPases 1,
• Gene location: 11q13.1 (65314865: 65322416)     Exons: 9     NC_000011.10
• Gene summary(Entrez): CDC42, a small Rho GTPase, regulates the formation of F-actin-containing structures through its interaction with the downstream effector proteins. The protein encoded by this gene is a member of the Borg family of CDC42 effector proteins. Borg family prot
• OMIM: 606132

Protein Summary

• Protein general information: O14613  
  • Name: Cdc42 effector protein 2 (Binder of Rho GTPases 1)
  • Length: 210  
  • Mass: 22484
  • Tissue specificity: Highly expressed in the heart. Weakly expressed in the pancreas and liver. {ECO
• Sequence:

  MSTKVPIYLKRGSRKGKKEKLRDLLSSDMISPPLGDFRHTIHIGSGGGSDMFGDISFLQGKFHLLPGTMVEGPEE
  DGTFDLPFQFTRTATVCGRELPDGPSPLLKNAISLPVIGGPQALTLPTAQAPPKPPRLHLETPQPSPQEGGSVDI
  WRIPETGSPNSGLTPESGAEEPFLSNASSLLSLHVDLGPSILDDVLQIMDQDLDSMQIPT

• Structural information:
  • Protein Domains: (30..4-)
    (/note="CRIB-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00057"-)
  • Interpro: IPR029273  IPR017363  IPR000095  
  • Prosite: PS50108
  • STRING: ENSP00000279249
• Other Databases: GeneCards:  CDC42EP2  Malacards:  CDC42EP2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IBA	cellular component
GO:0005856	cytoskeleton	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0017049	GTP-Rho binding	IBA	molecular function
GO:0030838	positive regulation of actin filament polymerization	IBA	biological process
GO:0031274	positive regulation of pseudopodium assembly	IBA	biological process
GO:0007266	Rho protein signal transduction	IBA	biological process
GO:0008360	regulation of cell shape	IBA	biological process
GO:0008360	regulation of cell shape	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005829	cytosol	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:0071346	cellular response to interferon-gamma	IEA	biological process
GO:0001515	opioid peptide activity	IEA	molecular function
GO:0045335	phagocytic vesicle	IEA	cellular component
GO:0012505	endomembrane system	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0015630	microtubule cytoskeleton	IDA	cellular component
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0016020	membrane	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0030036	actin cytoskeleton organization	IDA	biological process
GO:0008360	regulation of cell shape	IDA	biological process
GO:0031274	positive regulation of pseudopodium assembly	IDA	biological process
GO:0030838	positive regulation of actin filament polymerization	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0005096	GTPase activator activity	IMP	molecular function
GO:0017049	GTP-Rho binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0031334	positive regulation of protein-containing complex assembly	TAS	biological process
GO:0007015	actin filament organization	NAS	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881