• Gene id: 10602

Gene Summary

• Gene Symbol: CDC42EP3   Gene   UCSC   Ensembl
• Aliases: BORG2, CEP3, UB1
• Gene name: CDC42 effector protein 3
• Alternate names: cdc42 effector protein 3, CDC42 effector protein (Rho GTPase binding) 3, CRIB-containing BORG2 protein, MSE55-related Cdc42-binding protein, MSE55-related protein, binder of Rho GTPases 2,
• Gene location: 2p22.2 (37672948: 37641943)     Exons: 3     NC_000002.12
• Gene summary(Entrez): This gene encodes a member of a small family of guanosine triphosphate (GTP) metabolizing proteins that contain a CRIB (Cdc42, Rac interactive binding) domain. Members of this family of proteins act as effectors of CDC42 function. The encoded protein is i
• OMIM: 606133

Protein Summary

• Protein general information: Q9UKI2  
  • Name: Cdc42 effector protein 3 (Binder of Rho GTPases 2) (MSE55 related Cdc42 binding protein)
  • Length: 254  
  • Mass: 27678
  • Tissue specificity: Highly expressed in the heart and weakly in the brain. {ECO
• Sequence:

  MPAKTPIYLKAANNKKGKKFKLRDILSPDMISPPLGDFRHTIHIGKEGQHDVFGDISFLQGNYELLPGNQEKAHL
  GQFPGHNEFFRANSTSDSVFTETPSPVLKNAISLPTIGGSQALMLPLLSPVTFNSKQESFGPAKLPRLSCEPVME
  EKAQEKSSLLENGTVHQGDTSWGSSGSASQSSQGRDSHSSSLSEQYPDWPAEDMFDHPTPCELIKGKTKSEESLS
  DLTGSLLSLQLDLGPSLLDEVLNVMDKNK

• Structural information:
  • Protein Domains: (31..4-)
    (/note="CRIB-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00057"-)
  • Interpro: IPR029273  IPR000095  
  • Prosite: PS50108
  • STRING: ENSP00000295324
• Other Databases: GeneCards:  CDC42EP3  Malacards:  CDC42EP3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031274	positive regulation of pseudopodium assembly	IBA	biological process
GO:0030838	positive regulation of actin filament polymerization	IBA	biological process
GO:0017049	GTP-Rho binding	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0005856	cytoskeleton	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0008360	regulation of cell shape	IBA	biological process
GO:0007266	Rho protein signal transduction	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:0005519	cytoskeletal regulatory protein binding	TAS	molecular function
GO:0007165	signal transduction	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0015629	actin cytoskeleton	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0012505	endomembrane system	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0015629	actin cytoskeleton	IDA	cellular component

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)