• Gene id: 56990

Gene Summary

• Gene Symbol: CDC42SE2   Gene   UCSC   Ensembl
• Aliases: SPEC2
• Gene name: CDC42 small effector 2
• Alternate names: CDC42 small effector protein 2, non-kinase Cdc42 effector protein SPEC2, small effector of CDC42 protein 2,
• Gene location: 5q31.1 (131264052: 131394671)     Exons: 6     NC_000005.10
• OMIM: 0

Protein Summary

• Protein general information: Q9NRR3  
  • Name: CDC42 small effector protein 2 (Small effector of CDC42 protein 2)
  • Length: 84  
  • Mass: 9223
  • Tissue specificity: Widely expressed. Expressed at higher level in T-lymphocytes. Highly expressed in CCRF-CEM T-lymphocytes, Jurkat T-lymphocytes, and Raji B-lymphocytes compared (at protein level). {ECO
• Sequence:

  MSEFWLCFNCCIAEQPQPKRRRRIDRSMIGEPTNFVHTAHVGSGDLFSGMNSVSSIQNQMQSKGGYGGGMPANVQ
  MQLVDTKAG

• Structural information:
  • Protein Domains: (29..4-)
    (/note="CRIB-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00057"-)
  • Interpro: IPR000095  IPR036936  IPR039056  
  • Prosite: PS50108
  • STRING: ENSP00000427421
• Other Databases: GeneCards:  CDC42SE2  Malacards:  CDC42SE2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005886	plasma membrane	IBA	cellular component
GO:0017048	Rho GTPase binding	IEA	molecular function
GO:0035023	regulation of Rho protein signal transduction	IEA	biological process
GO:0006909	phagocytosis	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0008360	regulation of cell shape	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0001891	phagocytic cup	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0035591	signaling adaptor activity	IDA	molecular function
GO:0009966	regulation of signal transduction	IDA	biological process
GO:0005515	protein binding	IPI	molecular function

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)