UniProtKB - Q96F07 (CYFP2_HUMAN)
Cytoplasmic FMR1-interacting protein 2
CYFIP2
Functioni
GO - Biological processi
- activation of cysteine-type endopeptidase activity Source: BHF-UCL
- apoptotic process Source: UniProtKB
- axon guidance Source: GO_Central
- cell-cell adhesion Source: UniProtKB
- cell morphogenesis Source: GO_Central
- cell projection assembly Source: GO_Central
- dendrite extension Source: Ensembl
- Fc-gamma receptor signaling pathway involved in phagocytosis Source: Reactome
- positive regulation of neurotrophin TRK receptor signaling pathway Source: Ensembl
- positive regulation of proteolysis Source: BHF-UCL
- vascular endothelial growth factor receptor signaling pathway Source: Reactome
Keywordsi
Biological process | Apoptosis, Cell adhesion |
Enzyme and pathway databases
Reactomei | R-HSA-2029482 Regulation of actin dynamics for phagocytic cup formation R-HSA-4420097 VEGFA-VEGFR2 Pathway R-HSA-5663213 RHO GTPases Activate WASPs and WAVEs |
Names & Taxonomyi
Protein namesi | Recommended name: Cytoplasmic FMR1-interacting protein 2Alternative name(s): p53-inducible protein 121 |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:13760 CYFIP2 |
MIMi | 606323 gene |
neXtProti | NX_Q96F07 |
Subcellular locationi
Nucleus
- Nucleus 1 Publication
Other locations
- Cytoplasm 2 Publications
- perinuclear region By similarity
- synaptosome By similarity
Note: Highly expressed in the perinuclear regionand enriched in synaptosomes (By similarity). Treatment with leptomycin-B triggers translocation to the nucleus (PubMed:17245118).By similarity1 Publication
Cytosol
- cytosol Source: Reactome
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
Nucleus
- nucleus Source: UniProtKB-SubCell
Other locations
- cell junction Source: UniProtKB-KW
- cytoplasm Source: MGI
- membrane Source: UniProtKB
- neuron projection Source: GO_Central
- perinuclear region of cytoplasm Source: UniProtKB
- synapse Source: MGI
Keywords - Cellular componenti
Cell junction, Cytoplasm, Nucleus, Synapse, SynaptosomePathology & Biotechi
Involvement in diseasei
Epileptic encephalopathy, early infantile, 65 (EIEE65)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_080817 | 87 | R → C in EIEE65. 1 PublicationCorresponds to variant dbSNP:rs1131692231EnsemblClinVar. | 1 | |
Natural variantiVAR_080818 | 87 | R → L in EIEE65. 1 PublicationCorresponds to variant dbSNP:rs1554108163EnsemblClinVar. | 1 | |
Natural variantiVAR_080819 | 87 | R → P in EIEE65. 1 Publication | 1 |
Keywords - Diseasei
Disease mutation, EpilepsyOrganism-specific databases
DisGeNETi | 26999 |
MalaCardsi | CYFIP2 |
MIMi | 618008 phenotype |
OpenTargetsi | ENSG00000055163 |
Orphaneti | 442835 Undetermined early-onset epileptic encephalopathy |
PharmGKBi | PA38368 |
Miscellaneous databases
Pharosi | Q96F07 |
Polymorphism and mutation databases
BioMutai | CYFIP2 |
DMDMi | 134034199 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000279709 | 1 – 1278 | Cytoplasmic FMR1-interacting protein 2Add BLAST | 1278 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 1062 | N6-acetyllysineCombined sources | 1 |
Keywords - PTMi
AcetylationProteomic databases
EPDi | Q96F07 |
jPOSTi | Q96F07 |
MassIVEi | Q96F07 |
MaxQBi | Q96F07 |
PaxDbi | Q96F07 |
PeptideAtlasi | Q96F07 |
PRIDEi | Q96F07 |
ProteomicsDBi | 76481 [Q96F07-1] 76482 [Q96F07-2] |
PTM databases
iPTMneti | Q96F07 |
PhosphoSitePlusi | Q96F07 |
SwissPalmi | Q96F07 |
Expressioni
Tissue specificityi
Inductioni
Gene expression databases
Bgeei | ENSG00000055163 Expressed in 231 organ(s), highest expression level in renal medulla |
ExpressionAtlasi | Q96F07 baseline and differential |
Genevisiblei | Q96F07 HS |
Organism-specific databases
HPAi | CAB055519 HPA068106 HPA071459 |
Interactioni
Subunit structurei
Component of the WAVE1 complex composed of ABI2, CYFIP2, BRK1, NCKAP1 and WASF1/WAVE1.
Interacts with FMR1, FXR1 and FXR2 (By similarity).
Interacts with FMR1 isoform 6; the interaction occurs in a RNA-dependent manner (PubMed:24658146).
Interacts with RAC1 (activated form) which causes the complex to dissociate, releasing activated WASF1 (PubMed:15048733). The complex can also be activated by NCK1 (PubMed:15048733).
Interacts with SHANK3; the interaction mediates the association of SHANK3 with the WAVE1 complex (By similarity).
Interacts with TMEM108 (via N-terminus); the interaction associates TMEM108 with the WAVE1 complex (By similarity).
By similarity2 PublicationsBinary interactionsi
With | Entry | #Exp. | IntAct | Notes |
---|---|---|---|---|
Q06787 | 2 | EBI-2433893,EBI-366305 |
Protein-protein interaction databases
BioGridi | 117945, 66 interactors |
IntActi | Q96F07, 41 interactors |
MINTi | Q96F07 |
STRINGi | 9606.ENSP00000444645 |
Family & Domainsi
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG3534 Eukaryota ENOG410XPKW LUCA |
GeneTreei | ENSGT00500000044831 |
InParanoidi | Q96F07 |
KOi | K05749 |
OMAi | ATNRFVK |
OrthoDBi | 108507at2759 |
PhylomeDBi | Q96F07 |
Family and domain databases
InterProi | View protein in InterPro IPR008081 Cytoplasmic_FMR1-int IPR009828 DUF1394 |
PANTHERi | PTHR12195 PTHR12195, 1 hit |
Pfami | View protein in Pfam PF07159 DUF1394, 1 hit PF05994 FragX_IP, 2 hits |
PIRSFi | PIRSF008153 FMR1_interacting, 1 hit |
PRINTSi | PR01698 CYTOFMRPINTP |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 9 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MTTHVTLEDA LSNVDLLEEL PLPDQQPCIE PPPSSIMYQA NFDTNFEDRN
60 70 80 90 100
AFVTGIARYI EQATVHSSMN EMLEEGHEYA VMLYTWRSCS RAIPQVKCNE
110 120 130 140 150
QPNRVEIYEK TVEVLEPEVT KLMKFMYFQR KAIERFCSEV KRLCHAERRK
160 170 180 190 200
DFVSEAYLLT LGKFINMFAV LDELKNMKCS VKNDHSAYKR AAQFLRKMAD
210 220 230 240 250
PQSIQESQNL SMFLANHNRI TQCLHQQLEV IPGYEELLAD IVNICVDYYE
260 270 280 290 300
NKMYLTPSEK HMLLKVMGFG LYLMDGNVSN IYKLDAKKRI NLSKIDKFFK
310 320 330 340 350
QLQVVPLFGD MQIELARYIK TSAHYEENKS KWTCTQSSIS PQYNICEQMV
360 370 380 390 400
QIRDDHIRFI SELARYSNSE VVTGSGLDSQ KSDEEYRELF DLALRGLQLL
410 420 430 440 450
SKWSAHVMEV YSWKLVHPTD KFCNKDCPGT AEEYERATRY NYTSEEKFAF
460 470 480 490 500
VEVIAMIKGL QVLMGRMESV FNQAIRNTIY AALQDFAQVT LREPLRQAVR
510 520 530 540 550
KKKNVLISVL QAIRKTICDW EGGREPPNDP CLRGEKDPKG GFDIKVPRRA
560 570 580 590 600
VGPSSTQACQ WSPRALFHPT GGTQGRRGCR SLLYMVRTML ESLIADKSGS
610 620 630 640 650
KKTLRSSLDG PIVLAIEDFH KQSFFFTHLL NISEALQQCC DLSQLWFREF
660 670 680 690 700
FLELTMGRRI QFPIEMSMPW ILTDHILETK EPSMMEYVLY PLDLYNDSAY
710 720 730 740 750
YALTKFKKQF LYDEIEAEVN LCFDQFVYKL ADQIFAYYKA MAGSVLLDKR
760 770 780 790 800
FRAECKNYGV IIPYPPSNRY ETLLKQRHVQ LLGRSIDLNR LITQRISAAM
810 820 830 840 850
YKSLDQAISR FESEDLTSIV ELEWLLEINR LTHRLLCKHM TLDSFDAMFR
860 870 880 890 900
EANHNVSAPY GRITLHVFWE LNFDFLPNYC YNGSTNRFVR TAIPFTQEPQ
910 920 930 940 950
RDKPANVQPY YLYGSKPLNI AYSHIYSSYR NFVGPPHFKT ICRLLGYQGI
960 970 980 990 1000
AVVMEELLKI VKSLLQGTIL QYVKTLIEVM PKICRLPRHE YGSPGILEFF
1010 1020 1030 1040 1050
HHQLKDIIEY AELKTDVFQS LREVGNAILF CLLIEQALSQ EEVCDLLHAA
1060 1070 1080 1090 1100
PFQNILPRVY IKEGERLEVR MKRLEAKYAP LHLVPLIERL GTPQQIAIAR
1110 1120 1130 1140 1150
EGDLLTKERL CCGLSMFEVI LTRIRSYLQD PIWRGPPPTN GVMHVDECVE
1160 1170 1180 1190 1200
FHRLWSAMQF VYCIPVGTNE FTAEQCFGDG LNWAGCSIIV LLGQQRRFDL
1210 1220 1230 1240 1250
FDFCYHLLKV QRQDGKDEII KNVPLKKMAD RIRKYQILNN EVFAILNKYM
1260 1270
KSVETDSSTV EHVRCFQPPI HQSLATTC
Computationally mapped potential isoform sequencesi
There are 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketE7EVJ5 | E7EVJ5_HUMAN | Cytoplasmic FMR1-interacting protei... | CYFIP2 | 1,227 | Annotation score: | ||
E7EW33 | E7EW33_HUMAN | Cytoplasmic FMR1-interacting protei... | CYFIP2 | 1,057 | Annotation score: | ||
H7C229 | H7C229_HUMAN | Cytoplasmic FMR1-interacting protei... | CYFIP2 | 1,117 | Annotation score: | ||
A0A087WTQ3 | A0A087WTQ3_HUMAN | Cytoplasmic FMR1-interacting protei... | CYFIP2 | 222 | Annotation score: | ||
A0A087WVE1 | A0A087WVE1_HUMAN | Cytoplasmic FMR1-interacting protei... | CYFIP2 | 188 | Annotation score: | ||
A0A087WWZ1 | A0A087WWZ1_HUMAN | Cytoplasmic FMR1-interacting protei... | CYFIP2 | 295 | Annotation score: | ||
E5RKA3 | E5RKA3_HUMAN | Cytoplasmic FMR1-interacting protei... | CYFIP2 | 68 | Annotation score: | ||
A0A087WV63 | A0A087WV63_HUMAN | Cytoplasmic FMR1-interacting protei... | CYFIP2 | 71 | Annotation score: | ||
A0A087WZL7 | A0A087WZL7_HUMAN | Cytoplasmic FMR1-interacting protei... | CYFIP2 | 101 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 796 | I → T in AAH11762 (PubMed:15489334).Curated | 1 |
RNA editingi
Partially edited. Editing appears to be brain-specific.1 Publication
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_080817 | 87 | R → C in EIEE65. 1 PublicationCorresponds to variant dbSNP:rs1131692231EnsemblClinVar. | 1 | |
Natural variantiVAR_080818 | 87 | R → L in EIEE65. 1 PublicationCorresponds to variant dbSNP:rs1554108163EnsemblClinVar. | 1 | |
Natural variantiVAR_080819 | 87 | R → P in EIEE65. 1 Publication | 1 | |
Natural variantiVAR_030953 | 320 | K → E in RNA edited version. 1 PublicationCorresponds to variant dbSNP:rs3207362Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_052349 | 558 – 582 | Missing in isoform 2. 3 PublicationsAdd BLAST | 25 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF160973 mRNA Translation: AAD45723.1 AB032994 mRNA Translation: BAA86482.2 Different initiation. AL136549 mRNA Translation: CAB66484.1 AK223604 mRNA Translation: BAD97324.1 Different initiation. AC008676 Genomic DNA No translation available. AC009185 Genomic DNA No translation available. AC016571 Genomic DNA No translation available. CH471062 Genomic DNA Translation: EAW61604.1 CH471062 Genomic DNA Translation: EAW61605.1 CH471062 Genomic DNA Translation: EAW61606.1 BC011762 mRNA Translation: AAH11762.1 |
CCDSi | CCDS75364.1 [Q96F07-2] CCDS78077.1 [Q96F07-1] |
PIRi | T46248 |
RefSeqi | NP_001032410.1, NM_001037333.2 [Q96F07-2] NP_001278650.1, NM_001291721.1 NP_001278651.1, NM_001291722.1 [Q96F07-1] NP_055191.2, NM_014376.3 [Q96F07-2] XP_011532818.1, XM_011534516.2 [Q96F07-2] XP_016864830.1, XM_017009341.1 [Q96F07-2] |
Genome annotation databases
Ensembli | ENST00000616178; ENSP00000479719; ENSG00000055163 [Q96F07-1] ENST00000618329; ENSP00000484819; ENSG00000055163 [Q96F07-2] ENST00000620254; ENSP00000479968; ENSG00000055163 [Q96F07-2] |
GeneIDi | 26999 |
KEGGi | hsa:26999 |
UCSCi | uc003lwt.5 human [Q96F07-1] |
Keywords - Coding sequence diversityi
Alternative splicing, RNA editingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF160973 mRNA Translation: AAD45723.1 AB032994 mRNA Translation: BAA86482.2 Different initiation. AL136549 mRNA Translation: CAB66484.1 AK223604 mRNA Translation: BAD97324.1 Different initiation. AC008676 Genomic DNA No translation available. AC009185 Genomic DNA No translation available. AC016571 Genomic DNA No translation available. CH471062 Genomic DNA Translation: EAW61604.1 CH471062 Genomic DNA Translation: EAW61605.1 CH471062 Genomic DNA Translation: EAW61606.1 BC011762 mRNA Translation: AAH11762.1 |
CCDSi | CCDS75364.1 [Q96F07-2] CCDS78077.1 [Q96F07-1] |
PIRi | T46248 |
RefSeqi | NP_001032410.1, NM_001037333.2 [Q96F07-2] NP_001278650.1, NM_001291721.1 NP_001278651.1, NM_001291722.1 [Q96F07-1] NP_055191.2, NM_014376.3 [Q96F07-2] XP_011532818.1, XM_011534516.2 [Q96F07-2] XP_016864830.1, XM_017009341.1 [Q96F07-2] |
3D structure databases
SMRi | Q96F07 |
ModBasei | Search... |
Protein-protein interaction databases
BioGridi | 117945, 66 interactors |
IntActi | Q96F07, 41 interactors |
MINTi | Q96F07 |
STRINGi | 9606.ENSP00000444645 |
PTM databases
iPTMneti | Q96F07 |
PhosphoSitePlusi | Q96F07 |
SwissPalmi | Q96F07 |
Polymorphism and mutation databases
BioMutai | CYFIP2 |
DMDMi | 134034199 |
Proteomic databases
EPDi | Q96F07 |
jPOSTi | Q96F07 |
MassIVEi | Q96F07 |
MaxQBi | Q96F07 |
PaxDbi | Q96F07 |
PeptideAtlasi | Q96F07 |
PRIDEi | Q96F07 |
ProteomicsDBi | 76481 [Q96F07-1] 76482 [Q96F07-2] |
Protocols and materials databases
DNASUi | 26999 |
Genome annotation databases
Ensembli | ENST00000616178; ENSP00000479719; ENSG00000055163 [Q96F07-1] ENST00000618329; ENSP00000484819; ENSG00000055163 [Q96F07-2] ENST00000620254; ENSP00000479968; ENSG00000055163 [Q96F07-2] |
GeneIDi | 26999 |
KEGGi | hsa:26999 |
UCSCi | uc003lwt.5 human [Q96F07-1] |
Organism-specific databases
CTDi | 26999 |
DisGeNETi | 26999 |
GeneCardsi | CYFIP2 |
HGNCi | HGNC:13760 CYFIP2 |
HPAi | CAB055519 HPA068106 HPA071459 |
MalaCardsi | CYFIP2 |
MIMi | 606323 gene 618008 phenotype |
neXtProti | NX_Q96F07 |
OpenTargetsi | ENSG00000055163 |
Orphaneti | 442835 Undetermined early-onset epileptic encephalopathy |
PharmGKBi | PA38368 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3534 Eukaryota ENOG410XPKW LUCA |
GeneTreei | ENSGT00500000044831 |
InParanoidi | Q96F07 |
KOi | K05749 |
OMAi | ATNRFVK |
OrthoDBi | 108507at2759 |
PhylomeDBi | Q96F07 |
Enzyme and pathway databases
Reactomei | R-HSA-2029482 Regulation of actin dynamics for phagocytic cup formation R-HSA-4420097 VEGFA-VEGFR2 Pathway R-HSA-5663213 RHO GTPases Activate WASPs and WAVEs |
Miscellaneous databases
ChiTaRSi | CYFIP2 human |
GeneWikii | CYFIP2 |
GenomeRNAii | 26999 |
Pharosi | Q96F07 |
PROi | PR:Q96F07 |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000055163 Expressed in 231 organ(s), highest expression level in renal medulla |
ExpressionAtlasi | Q96F07 baseline and differential |
Genevisiblei | Q96F07 HS |
Family and domain databases
InterProi | View protein in InterPro IPR008081 Cytoplasmic_FMR1-int IPR009828 DUF1394 |
PANTHERi | PTHR12195 PTHR12195, 1 hit |
Pfami | View protein in Pfam PF07159 DUF1394, 1 hit PF05994 FragX_IP, 2 hits |
PIRSFi | PIRSF008153 FMR1_interacting, 1 hit |
PRINTSi | PR01698 CYTOFMRPINTP |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | CYFP2_HUMAN | |
Accessioni | Q96F07Primary (citable) accession number: Q96F07 Secondary accession number(s): A6NLT2 Q9UN29 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | March 6, 2007 |
Last sequence update: | March 6, 2007 | |
Last modified: | October 16, 2019 | |
This is version 145 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Complete proteome, Reference proteomeDocuments
- Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations - SIMILARITY comments
Index of protein domains and families - Human chromosome 5
Human chromosome 5: entries, gene names and cross-references to MIM - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot