• Gene id: 26999

Gene Summary

• Gene Symbol: CYFIP2   Gene   UCSC   Ensembl
• Aliases: EIEE65, PIR121
• Gene name: cytoplasmic FMR1 interacting protein 2
• Alternate names: cytoplasmic FMR1-interacting protein 2, p53-inducible protein 121,
• Gene location: 5q33.3 (157266090: 157395593)     Exons: 1     NC_000005.10
• OMIM: 606323

Protein Summary

• Protein general information: Q96F07  
  • Name: Cytoplasmic FMR1 interacting protein 2 (p53 inducible protein 121)
  • Length: 1278  
  • Mass: 148399
  • Tissue specificity: Expressed in T-cells. Increased expression is observed in CD4(+) T-lymphocytes from patients with multiple sclerosis (at protein level). {ECO
• Sequence:

  MTTHVTLEDALSNVDLLEELPLPDQQPCIEPPPSSIMYQANFDTNFEDRNAFVTGIARYIEQATVHSSMNEMLEE
  GHEYAVMLYTWRSCSRAIPQVKCNEQPNRVEIYEKTVEVLEPEVTKLMKFMYFQRKAIERFCSEVKRLCHAERRK
  DFVSEAYLLTLGKFINMFAVLDELKNMKCSVKNDHSAYKRAAQFLRKMADPQSIQESQNLSMFLANHNRITQCLH
  QQLEVIPGYEELLADIVNICVDYYENKMYLTPSEKHMLLKVMGFGLYLMDGNVSNIYKLDAKKRINLSKIDKFFK
  QLQVVPLFGDMQIELARYIKTSAHYEENKSKWTCTQSSISPQYNICEQMVQIRDDHIRFISELARYSNSEVVTGS
  GLDSQKSDEEYRELFDLALRGLQLLSKWSAHVMEVYSWKLVHPTDKFCNKDCPGTAEEYERATRYNYTSEEKFAF
  VEVIAMIKGLQVLMGRMESVFNQAIRNTIYAALQDFAQVTLREPLRQAVRKKKNVLISVLQAIRKTICDWEGGRE
  PPNDPCLRGEKDPKGGFDIKVPRRAVGPSSTQACQWSPRALFHPTGGTQGRRGCRSLLYMVRTMLESLIADKSGS
  KKTLRSSLDGPIVLAIEDFHKQSFFFTHLLNISEALQQCCDLSQLWFREFFLELTMGRRIQFPIEMSMPWILTDH
  ILETKEPSMMEYVLYPLDLYNDSAYYALTKFKKQFLYDEIEAEVNLCFDQFVYKLADQIFAYYKAMAGSVLLDKR
  FRAECKNYGVIIPYPPSNRYETLLKQRHVQLLGRSIDLNRLITQRISAAMYKSLDQAISRFESEDLTSIVELEWL
  LEINRLTHRLLCKHMTLDSFDAMFREANHNVSAPYGRITLHVFWELNFDFLPNYCYNGSTNRFVRTAIPFTQEPQ
  RDKPANVQPYYLYGSKPLNIAYSHIYSSYRNFVGPPHFKTICRLLGYQGIAVVMEELLKIVKSLLQGTILQYVKT
  LIEVMPKICRLPRHEYGSPGILEFFHHQLKDIIEYAELKTDVFQSLREVGNAILFCLLIEQALSQEEVCDLLHAA
  PFQNILPRVYIKEGERLEVRMKRLEAKYAPLHLVPLIERLGTPQQIAIAREGDLLTKERLCCGLSMFEVILTRIR
  SYLQDPIWRGPPPTNGVMHVDECVEFHRLWSAMQFVYCIPVGTNEFTAEQCFGDGLNWAGCSIIVLLGQQRRFDL
  FDFCYHLLKVQRQDGKDEIIKNVPLKKMADRIRKYQILNNEVFAILNKYMKSVETDSSTVEHVRCFQPPIHQSLA
  TTC

• Structural information:
  • Interpro: IPR008081  IPR009828  
  • STRING: ENSP00000444645
• Other Databases: GeneCards:  CYFIP2  Malacards:  CYFIP2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043005	neuron projection	IBA	cellular component
GO:0030031	cell projection assembly	IBA	biological process
GO:0000902	cell morphogenesis	IBA	biological process
GO:0000340	RNA 7-methylguanosine cap binding	IBA	NOT|molecular function
GO:0097202	activation of cysteine-type endopeptidase activity	IBA	biological process
GO:0045202	synapse	IBA	cellular component
GO:0031209	SCAR complex	IBA	NOT|cellular component
GO:0007411	axon guidance	IBA	biological process
GO:0006915	apoptotic process	IBA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0030833	regulation of actin filament polymerization	IEA	biological process
GO:0048365	Rac GTPase binding	IEA	molecular function
GO:0043005	neuron projection	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0045202	synapse	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0038096	Fc-gamma receptor signaling pathway involved in phagocytosis	TAS	biological process
GO:0048010	vascular endothelial growth factor receptor signaling pathway	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0031175	neuron projection development	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0051388	positive regulation of neurotrophin TRK receptor signaling pathway	IEA	biological process
GO:0097484	dendrite extension	IEA	biological process
GO:0045862	positive regulation of proteolysis	IDA	biological process
GO:0097202	activation of cysteine-type endopeptidase activity	IDA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0043005	neuron projection	IEA	cellular component
GO:0006915	apoptotic process	IDA	biological process
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0098609	cell-cell adhesion	IDA	biological process
GO:0016020	membrane	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04810	Regulation of actin cytoskeleton
hsa05132	Salmonella infection
hsa05130	Pathogenic Escherichia coli infection
hsa03013	RNA transport

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray