CDC42EP5 (CDC42 effector protein 5)

Gene

• Entrez ID: 148170
• Gene name: CDC42 effector protein 5
• Gene symbol: CDC42EP5
• Synonyms (NCBI Gene): Borg3, CEP5
• Chromosome: 19
• Chromosome location: 19q13.42
• Summary: Cell division control protein 42 (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 (binder of Rho G

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	11035016
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IBA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0007254	Process	JNK cascade	IEA
GO:0007266	Process	Rho protein signal transduction	IBA
GO:0007266	Process	Rho protein signal transduction	IEA
GO:0008360	Process	Regulation of cell shape	IBA
GO:0008360	Process	Regulation of cell shape	IDA	11035016
GO:0008360	Process	Regulation of cell shape	IEA
GO:0012505	Component	Endomembrane system	IEA
GO:0016020	Component	Membrane	IDA	11035016
GO:0016020	Component	Membrane	IEA
GO:0030838	Process	Positive regulation of actin filament polymerization	IBA
GO:0030838	Process	Positive regulation of actin filament polymerization	IDA	11035016
GO:0031267	Function	Small GTPase binding	IBA
GO:0031267	Function	Small GTPase binding	IPI	11035016
GO:0031274	Process	Positive regulation of pseudopodium assembly	IBA
GO:0031274	Process	Positive regulation of pseudopodium assembly	IDA	11035016

Other IDs

• MIM: 609171
• HGNC: 17408
• e!Ensembl: ENSG00000167617

Protein

• UniProt ID: Q6NZY7
• Protein name: Cdc42 effector protein 5 (Binder of Rho GTPases 3)
• Protein function: Probably involved in the organization of the actin cytoskeleton. May act downstream of CDC42 to induce actin filament assembly leading to cell shape changes. Induces pseudopodia formation in fibroblasts. Inhibits MAPK8 independently of CDC42 bin
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00786	PBD	22 → 52	P21-Rho-binding domain	Domain
  PF14957	BORG_CEP	45 → 110	Cdc42 effector	Family

• Sequence:

  MPVLKQLGPAQPKKRPDRGALSISAPLGDFRHTLHVGRGGDAFGDTSFLSRHGGGPPPEP
  RAPPAGAPRSPPPPAVPQSAAPSPADPLLSFHLDLGPSMLDAVLGVMDAARPEAAAAKPD
  AEPRPGTQPPQARCRPNADLELNDVIGL

• Sequence length: 148

Pathways

Reactome:

MAPK6/MAPK4 signaling

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	29257233		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	31698611	Associate	★☆☆☆☆ Found in Text Mining only
Rhinitis Allergic	Rhinitis	Pubtator	29257233	Associate	★☆☆☆☆ Found in Text Mining only