• Gene id: 79363

Gene Summary

• Gene Symbol: CPLANE2   Gene   UCSC   Ensembl
• Aliases: C1orf89, RSG1
• Gene name: ciliogenesis and planar polarity effector 2
• Alternate names: ciliogenesis and planar polarity effector 2, REM2 and RAB like small GTPase 1, REM2- and Rab-like small GTPase 1, Rem/Rab-Similar GTPase 1, miro domain-containing protein C1orf89,
• Gene location: 1p36.13 (142596392: 142713663)     Exons: 22     NC_000003.12

Protein Summary

• Protein general information: Q9BU20  
  • Name: Ciliogenesis and planar polarity effector 2 (REM2 and Rab like small GTPase 1)
  • Length: 258  
  • Mass: 28498
• Sequence:

  MARPPVPGSVVVPNWHESAEGKEYLACILRKNRRRVFGLLERPVLLPPVSIDTASYKIFVSGKSGVGKTALVAKL
  AGLEVPVVHHETTGIQTTVVFWPAKLQASSRVVMFRFEFWDCGESALKKFDHMLLACMENTDAFLFLFSFTDRAS
  FEDLPGQLARIAGEAPGVVRMVIGSKFDQYMHTDVPERDLTAFRQAWELPLLRVKSVPGRRLADGRTLDGRAGLA
  DVAHILNGLAEQLWHQDQVAAGLLPNPPESAPE

• Structural information:
  • Interpro: IPR027417  IPR039677  IPR001806  
  • STRING: ENSP00000364749
• Other Databases: GeneCards:  CPLANE2  Malacards:  CPLANE2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0060271	cilium assembly	ISS	biological process
GO:0036064	ciliary basal body	ISS	cellular component
GO:0017157	regulation of exocytosis	ISS	biological process
GO:0034613	cellular protein localization	ISS	biological process
GO:0031338	regulation of vesicle fusion	ISS	biological process
GO:0003924	GTPase activity	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0030030	cell projection organization	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0005525	GTP binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0006887	exocytosis	IEA	biological process
GO:0015031	protein transport	IEA	biological process
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:0005654	nucleoplasm	IDA	cellular component

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
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)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray