ID  Q96F07;
PN  Cytoplasmic FMR1-interacting protein 2;
GN  CYFIP2;
OS  9606;
SL  Nucleus Position: SL-0198;
SL  Comments: Cytoplasm {ECO:0000269|PubMed:10449408, ECO:0000269|PubMed:17245118}. Nucleus {ECO:0000269|PubMed:17245118}. Cytoplasm, perinuclear region {ECO:0000250|UniProtKB:Q5SQX6}. Synapse, synaptosome {ECO:0000250|UniProtKB:Q5SQX6}. Note=Highly expressed in the perinuclear regionand enriched in synaptosomes (By similarity). Treatment with leptomycin-B triggers translocation to the nucleus (PubMed:17245118). {ECO:0000250|UniProtKB:Q5SQX6, ECO:0000269|PubMed:17245118}.
DR  UNIPROT: Q96F07;
DR  UNIPROT: A6NLT2;
DR  UNIPROT: D3DQJ3;
DR  UNIPROT: Q53EN5;
DR  UNIPROT: Q9NTK4;
DR  UNIPROT: Q9ULQ2;
DR  UNIPROT: Q9UN29;
DR  Pfam: PF07159;
DR  Pfam: PF05994;
DR  OMIM: 606323;
DR  OMIM: 618008;
DR  DisGeNET: 26999;
DE  Function: Involved in T-cell adhesion and p53/TP53-dependent induction of apoptosis. Does not bind RNA. As component of the WAVE1 complex, required for BDNF-NTRK2 endocytic trafficking and signaling from early endosomes (By similarity). {ECO:0000250|UniProtKB:Q5SQX6, ECO:0000269|PubMed:10449408, ECO:0000269|PubMed:15048733, ECO:0000269|PubMed:17245118}.
DE  Disease: Developmental and epileptic encephalopathy 65 (DEE65) [MIM:618008]: A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE65 is an autosomal dominant form characterized by onset of intractable seizures usually in the first 6 months of life and severe to profound psychomotor developmental delay. {ECO:0000269|PubMed:29534297}. Note=The disease is caused by variants affecting the gene represented in this entry.
DE  Reference Proteome: Yes;
DE  Interaction: P00533; IntAct: EBI-32720286; Score: 0.27
DE  Interaction: Q06787; IntAct: EBI-3649591; Score: 0.53
DE  Interaction: Q7L576; IntAct: EBI-3649667; Score: 0.27
DE  Interaction: Q9Y2A7; IntAct: EBI-7160508; Score: 0.32
DE  Interaction: Q8IZP0; IntAct: EBI-7160598; Score: 0.56
DE  Interaction: Q9Y6W5; IntAct: EBI-7160648; Score: 0.40
DE  Interaction: Q04917; IntAct: EBI-307271; Score: 0.53
DE  Interaction: P63104; IntAct: EBI-2433948; Score: 0.35
DE  Interaction: O60861; IntAct: EBI-7721256; Score: 0.40
DE  Interaction: Q9P2A4; IntAct: EBI-7087991; Score: 0.40
DE  Interaction: A0A6L7HB35; IntAct: EBI-2817304; Score: 0.00
DE  Interaction: P51116; IntAct: EBI-3650359; Score: 0.37
DE  Interaction: P51114; IntAct: EBI-3650316; Score: 0.37
DE  Interaction: Q13485; IntAct: EBI-3918179; Score: 0.49
DE  Interaction: Q13489; IntAct: EBI-3929935; Score: 0.37
DE  Interaction: P00747; IntAct: EBI-3938582; Score: 0.37
DE  Interaction: Q5D1E8; IntAct: EBI-3943196; Score: 0.37
DE  Interaction: P31946; IntAct: EBI-8796749; Score: 0.35
DE  Interaction: Q5S007; IntAct: EBI-9515510; Score: 0.35
DE  Interaction: P15884; IntAct: EBI-11322276; Score: 0.35
DE  Interaction: O43639; IntAct: EBI-21521290; Score: 0.35
DE  Interaction: Q3ZCQ8; IntAct: EBI-21581953; Score: 0.35
DE  Interaction: Q9NSC5; IntAct: EBI-21639932; Score: 0.35
DE  Interaction: Q96EV8; IntAct: EBI-21651992; Score: 0.35
DE  Interaction: Q9ULV8; IntAct: EBI-21715242; Score: 0.35
DE  Interaction: Q969G2; IntAct: EBI-21754639; Score: 0.35
DE  Interaction: Q5HYW2; IntAct: EBI-21762959; Score: 0.35
DE  Interaction: Q400G9; IntAct: EBI-21768785; Score: 0.35
DE  Interaction: Q9NYB9; IntAct: EBI-21786440; Score: 0.35
DE  Interaction: Q9BQS6; IntAct: EBI-21789770; Score: 0.35
DE  Interaction: Q6NT52; IntAct: EBI-21804311; Score: 0.35
DE  Interaction: O60826; IntAct: EBI-21812182; Score: 0.35
DE  Interaction: Q70UQ0; IntAct: EBI-21813594; Score: 0.35
DE  Interaction: Q9UPY6; IntAct: EBI-21852540; Score: 0.35
DE  Interaction: Q8NB15; IntAct: EBI-21893201; Score: 0.35
DE  Interaction: Q8N3R9; IntAct: EBI-21912043; Score: 0.35
DE  Interaction: P03950; IntAct: EBI-16363232; Score: 0.35
DE  Interaction: O15155; IntAct: EBI-16788067; Score: 0.27
DE  Interaction: P15311; IntAct: EBI-16791848; Score: 0.27
DE  Interaction: P11142; IntAct: EBI-16794405; Score: 0.27
DE  Interaction: P11279; IntAct: EBI-16794808; Score: 0.27
DE  Interaction: O43493; IntAct: EBI-16800265; Score: 0.27
DE  Interaction: Q13557; IntAct: EBI-16812871; Score: 0.35
DE  Interaction: P30559; IntAct: EBI-20811004; Score: 0.37
DE  Interaction: P03372; IntAct: EBI-21302175; Score: 0.35
DE  Interaction: Q9NRI5; IntAct: EBI-21377438; Score: 0.00
DE  Interaction: Q8TB24; IntAct: EBI-26518569; Score: 0.35
DE  Interaction: O14733; IntAct: EBI-28930089; Score: 0.35
DE  Interaction: O43283; IntAct: EBI-28930960; Score: 0.35
DE  Interaction: O60566; IntAct: EBI-28931243; Score: 0.35
DE  Interaction: P23469; IntAct: EBI-27116439; Score: 0.27
DE  Interaction: P21709; IntAct: EBI-32720516; Score: 0.27
DE  Interaction: P54764; IntAct: EBI-32720816; Score: 0.27
DE  Interaction: Q15375; IntAct: EBI-32721052; Score: 0.27
DE  Interaction: P29323; IntAct: EBI-32721290; Score: 0.27
DE  Interaction: P11362; IntAct: EBI-32721578; Score: 0.27
DE  Interaction: P22455; IntAct: EBI-32722168; Score: 0.27
DE  Interaction: Q16288; IntAct: EBI-32724526; Score: 0.27
DE  Interaction: Q01974; IntAct: EBI-32725367; Score: 0.27
GO  GO:0070161;
GO  GO:0005737;
GO  GO:0005829;
GO  GO:0070062;
GO  GO:0016020;
GO  GO:0043005;
GO  GO:0005634;
GO  GO:0048471;
GO  GO:0031209;
GO  GO:0045202;
GO  GO:0031267;
GO  GO:0097202;
GO  GO:0006915;
GO  GO:0000902;
GO  GO:0098609;
GO  GO:0097484;
GO  GO:0051388;
GO  GO:0045862;
GO  GO:0030833;
TP  Membrane Topology: Unknown; Source: UniProt - Sequence Analysis;
SQ  MTTHVTLEDALSNVDLLEELPLPDQQPCIEPPPSSIMYQANFDTNFEDRNAFVTGIARYIEQATVHSSMNEMLEEGHEYA
SQ  VMLYTWRSCSRAIPQVKCNEQPNRVEIYEKTVEVLEPEVTKLMKFMYFQRKAIERFCSEVKRLCHAERRKDFVSEAYLLT
SQ  LGKFINMFAVLDELKNMKCSVKNDHSAYKRAAQFLRKMADPQSIQESQNLSMFLANHNRITQCLHQQLEVIPGYEELLAD
SQ  IVNICVDYYENKMYLTPSEKHMLLKVMGFGLYLMDGNVSNIYKLDAKKRINLSKIDKFFKQLQVVPLFGDMQIELARYIK
SQ  TSAHYEENKSKWTCTQSSISPQYNICEQMVQIRDDHIRFISELARYSNSEVVTGSGLDSQKSDEEYRELFDLALRGLQLL
SQ  SKWSAHVMEVYSWKLVHPTDKFCNKDCPGTAEEYERATRYNYTSEEKFAFVEVIAMIKGLQVLMGRMESVFNQAIRNTIY
SQ  AALQDFAQVTLREPLRQAVRKKKNVLISVLQAIRKTICDWEGGREPPNDPCLRGEKDPKGGFDIKVPRRAVGPSSTQACQ
SQ  WSPRALFHPTGGTQGRRGCRSLLYMVRTMLESLIADKSGSKKTLRSSLDGPIVLAIEDFHKQSFFFTHLLNISEALQQCC
SQ  DLSQLWFREFFLELTMGRRIQFPIEMSMPWILTDHILETKEPSMMEYVLYPLDLYNDSAYYALTKFKKQFLYDEIEAEVN
SQ  LCFDQFVYKLADQIFAYYKAMAGSVLLDKRFRAECKNYGVIIPYPPSNRYETLLKQRHVQLLGRSIDLNRLITQRISAAM
SQ  YKSLDQAISRFESEDLTSIVELEWLLEINRLTHRLLCKHMTLDSFDAMFREANHNVSAPYGRITLHVFWELNFDFLPNYC
SQ  YNGSTNRFVRTAIPFTQEPQRDKPANVQPYYLYGSKPLNIAYSHIYSSYRNFVGPPHFKTICRLLGYQGIAVVMEELLKI
SQ  VKSLLQGTILQYVKTLIEVMPKICRLPRHEYGSPGILEFFHHQLKDIIEYAELKTDVFQSLREVGNAILFCLLIEQALSQ
SQ  EEVCDLLHAAPFQNILPRVYIKEGERLEVRMKRLEAKYAPLHLVPLIERLGTPQQIAIAREGDLLTKERLCCGLSMFEVI
SQ  LTRIRSYLQDPIWRGPPPTNGVMHVDECVEFHRLWSAMQFVYCIPVGTNEFTAEQCFGDGLNWAGCSIIVLLGQQRRFDL
SQ  FDFCYHLLKVQRQDGKDEIIKNVPLKKMADRIRKYQILNNEVFAILNKYMKSVETDSSTVEHVRCFQPPIHQSLATTC
//