CYFIP2
entrez
26999
canonical
uniprot
Q96F07
canonical
ensembl
ENSG00000055163
resolver
ensp
ENSP00000430904
resolver
ensp
ENSP00000479719
resolver
ensp
ENSP00000479968
resolver
ensp
ENSP00000484819
resolver
ensp
ENSP00000553440
resolver
ensp
ENSP00000553444
resolver
ensp
ENSP00000553447
resolver
enst
ENST00000521420
resolver
enst
ENST00000883385
resolver
genesymbol
CYFIP2
resolver
genesymbol_syn
KIAA1168
resolver
genesymbol_syn
PIR121
resolver
hgnc
HGNC:13760
resolver
uniprot
A6NLT2
resolver
uniprot
B7Z8N7
resolver
uniprot
D3DQJ3
resolver
uniprot
E7EVJ5
resolver
uniprot
Q53EN5
resolver
uniprot
Q9NTK4
resolver
uniprot
Q9ULQ2
resolver
uniprot
Q9UN29
resolver
uniprot_entry
B7Z8N7_HUMAN
resolver
uniprot_entry
CYFP2_HUMAN
resolver
uniprot_entry
E7EVJ5_HUMAN
resolver
uniprot_sec
A6NLT2
resolver
uniprot_sec
D3DQJ3
resolver
uniprot_sec
Q53EN5
resolver
uniprot_sec
Q9NTK4
resolver
uniprot_sec
Q9ULQ2
resolver
uniprot_sec
Q9UN29
resolver
amino_acid_sequence
MTTHVTLEDALSNVDLLEELPLPDQQPCIEPPPSSIMYQANFDTNFEDRNAFVTGIARYIEQATVHSSMNEMLEEGHEYAVMLYTWRSCSRAIPQVKCNEQPNRVEIYEKTVEVLEPEVTKLMKFMYFQRKAIERFCSEVKRLCHAERRKDFVSEAYLLTLGKFINMFAVLDELKNMKCSVKNDHSAYKRAAQFLRKMADPQSIQESQNLSMFLANHNRITQCLHQQLEVIPGYEELLADIVNICVDYYENKMYLTPSEKHMLLKVMGFGLYLMDGNVSNIYKLDAKKRINLSKIDKFFKQLQVVPLFGDMQIELARYIKTSAHYEENKSKWTCTQSSISPQYNICEQMVQIRDDHIRFISELARYSNSEVVTGSGLDSQKSDEEYRELFDLALRGLQLLSKWSAHVMEVYSWKLVHPTDKFCNKDCPGTAEEYERATRYNYTSEEKFAFVEVIAMIKGLQVLMGRMESVFNQAIRNTIYAALQDFAQVTLREPLRQAVRKKKNVLISVLQAIRKTICDWEGGREPPNDPCLRGEKDPKGGFDIKVPRRAVGPSSTQACQWSPRALFHPTGGTQGRRGCRSLLYMVRTMLESLIADKSGSKKTLRSSLDGPIVLAIEDFHKQSFFFTHLLNISEALQQCCDLSQLWFREFFLELTMGRRIQFPIEMSMPWILTDHILETKEPSMMEYVLYPLDLYNDSAYYALTKFKKQFLYDEIEAEVNLCFDQFVYKLADQIFAYYKAMAGSVLLDKRFRAECKNYGVIIPYPPSNRYETLLKQRHVQLLGRSIDLNRLITQRISAAMYKSLDQAISRFESEDLTSIVELEWLLEINRLTHRLLCKHMTLDSFDAMFREANHNVSAPYGRITLHVFWELNFDFLPNYCYNGSTNRFVRTAIPFTQEPQRDKPANVQPYYLYGSKPLNIAYSHIYSSYRNFVGPPHFKTICRLLGYQGIAVVMEELLKIVKSLLQGTILQYVKTLIEVMPKICRLPRHEYGSPGILEFFHHQLKDIIEYAELKTDVFQSLREVGNAILFCLLIEQALSQEEVCDLLHAAPFQNILPRVYIKEGERLEVRMKRLEAKYAPLHLVPLIERLGTPQQIAIAREGDLLTKERLCCGLSMFEVILTRIRSYLQDPIWRGPPPTNGVMHVDECVEFHRLWSAMQFVYCIPVGTNEFTAEQCFGDGLNWAGCSIIVLLGQQRRFDLFDFCYHLLKVQRQDGKDEIIKNVPLKKMADRIRKYQILNNEVFAILNKYMKSVETDSSTVEHVRCFQPPIHQSLATTC
uniprot
proteins
disease_involvement
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.
uniprot
proteins
function
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}.
uniprot
proteins
mass_dalton
148399
uniprot
proteins
protein_family
CYFIP family
uniprot
proteins
pubmed
10449408
uniprot
proteins
pubmed
10574461
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
15048733
uniprot
proteins
pubmed
15372022
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15731336
uniprot
proteins
pubmed
17245118
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24658146
uniprot
proteins
pubmed
29534297
uniprot
proteins
sequence_length
1278
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: 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}.
uniprot
proteins