• Gene id: 23580

Gene Summary

• Gene Symbol: CDC42EP4   Gene   UCSC   Ensembl
• Aliases: BORG4, CEP4, KAIA1777
• Gene name: CDC42 effector protein 4
• Alternate names: cdc42 effector protein 4, CDC42 effector protein (Rho GTPase binding) 4, binder of Rho GTPases 4,
• Gene location: 17q25.1 (73312000: 73283623)     Exons: 4     NC_000017.11
• Gene summary(Entrez): The product of this gene is a member of the CDC42-binding protein family. Members of this family interact with Rho family GTPases and regulate the organization of the actin cytoskeleton. This protein has been shown to bind both CDC42 and TC10 GTPases in a
• OMIM: 605468

Protein Summary

• Protein general information: Q9H3Q1  
  • Name: Cdc42 effector protein 4 (Binder of Rho GTPases 4)
  • Length: 356  
  • Mass: 37980
  • Tissue specificity: Not detected in any of the adult tissues tested. May be expressed only in fetal or embryonic tissues.
• Sequence:

  MPILKQLVSSSVHSKRRSRADLTAEMISAPLGDFRHTMHVGRAGDAFGDTSFLNSKAGEPDGESLDEQPSSSSSK
  RSLLSRKFRGSKRSQSVTRGEREQRDMLGSLRDSALFVKNAMSLPQLNEKEAAEKGTSKLPKSLSSSPVKKANDG
  EGGDEEAGTEEAVPRRNGAAGPHSPDPLLDEQAFGDLTDLPVVPKATYGLKHAESIMSFHIDLGPSMLGDVLSIM
  DKEEWDPEEGEGGYHGDEGAAGTITQAPPYAVAAPPLARQEGKAGPDLPSLPSHALEDEGWAAAAPSPGSARSMG
  SHTTRDSSSLSSCTSGILEERSPAFRGPDRARAAVSRQPDKEFSFMDEEEEDEIRV

• Structural information:
  • Protein Domains: (27..4-)
    (/note="CRIB-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00057"-)
  • Interpro: IPR029273  IPR000095  
  • Prosite: PS50108
  • STRING: ENSP00000338258
• Other Databases: GeneCards:  CDC42EP4  Malacards:  CDC42EP4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007266	Rho protein signal transduction	IBA	biological process
GO:0008360	regulation of cell shape	IBA	biological process
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:0008360	regulation of cell shape	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
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:0007266	Rho protein signal transduction	IEA	biological process
GO:0045335	phagocytic vesicle	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005912	adherens junction	IDA	cellular component
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
GO:0015630	microtubule cytoskeleton	IDA	cellular component
GO:0008360	regulation of cell shape	IDA	biological process
GO:0031274	positive regulation of pseudopodium assembly	IDA	biological process
GO:0003723	RNA binding	HDA	molecular function
GO:0017049	GTP-Rho binding	NAS	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq