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UniProtKB - Q96F07 (CYFP2_HUMAN)

Protein

Cytoplasmic FMR1-interacting protein 2

Gene

CYFIP2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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).By similarity3 Publications

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Biological processApoptosis, Cell adhesion

Enzyme and pathway databases

ReactomeiR-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 2
Alternative name(s):
p53-inducible protein 121
Gene namesi
Name:CYFIP2Imported
Synonyms:KIAA1168, PIR121Imported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

EuPathDBiHostDB:ENSG00000055163.18
HGNCiHGNC:13760 CYFIP2
MIMi606323 gene
neXtProtiNX_Q96F07

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell junction, Cytoplasm, Nucleus, Synapse, Synaptosome

Pathology & Biotechi

Involvement in diseasei

Epileptic encephalopathy, early infantile, 65 (EIEE65)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of epileptic encephalopathy, a heterogeneous group of severe childhood 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. EIEE65 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.
See also OMIM:618008
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08081787R → C in EIEE65. 1 Publication1
Natural variantiVAR_08081887R → L in EIEE65. 1 Publication1
Natural variantiVAR_08081987R → P in EIEE65. 1 Publication1

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

DisGeNETi26999
MalaCardsiCYFIP2
MIMi618008 phenotype
OpenTargetsiENSG00000055163
Orphaneti442835 Undetermined early-onset epileptic encephalopathy
PharmGKBiPA38368

Polymorphism and mutation databases

BioMutaiCYFIP2
DMDMi134034199

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002797091 – 1278Cytoplasmic FMR1-interacting protein 2Add BLAST1278

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1062N6-acetyllysineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ96F07
MaxQBiQ96F07
PaxDbiQ96F07
PeptideAtlasiQ96F07
PRIDEiQ96F07
ProteomicsDBi76481
76482 [Q96F07-2]

PTM databases

iPTMnetiQ96F07
PhosphoSitePlusiQ96F07

Expressioni

Tissue specificityi

Expressed in T-cells. Increased expression is observed in CD4+ T-lymphocytes from patients with multiple sclerosis (at protein level).1 Publication

Inductioni

By p53/TP53.1 Publication

Gene expression databases

BgeeiENSG00000055163 Expressed in 231 organ(s), highest expression level in renal medulla
CleanExiHS_CYFIP2
ExpressionAtlasiQ96F07 baseline and differential
GenevisibleiQ96F07 HS

Organism-specific databases

HPAiCAB055519
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 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
FMR1Q067872EBI-2433893,EBI-366305

Protein-protein interaction databases

BioGridi117945, 55 interactors
IntActiQ96F07, 22 interactors
MINTiQ96F07
STRINGi9606.ENSP00000325817

Structurei

3D structure databases

ProteinModelPortaliQ96F07
SMRiQ96F07
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the CYFIP family.Sequence analysis

Phylogenomic databases

eggNOGiKOG3534 Eukaryota
ENOG410XPKW LUCA
GeneTreeiENSGT00500000044831
HOVERGENiHBG053209
InParanoidiQ96F07
KOiK05749
OMAiATNRFVK
OrthoDBiEOG091G0105
PhylomeDBiQ96F07

Family and domain databases

InterProiView protein in InterPro
IPR008081 Cytoplasmic_FMR1-int
IPR009828 DUF1394
PANTHERiPTHR12195 PTHR12195, 1 hit
PfamiView protein in Pfam
PF07159 DUF1394, 1 hit
PF05994 FragX_IP, 2 hits
PIRSFiPIRSF008153 FMR1_interacting, 1 hit
PRINTSiPR01698 CYTOFMRPINTP

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 9 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q96F07-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        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
Length:1,278
Mass (Da):148,399
Last modified:March 6, 2007 - v2
Checksum:iD6562B1204DC2463
GO
Isoform 21 Publication (identifier: Q96F07-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     558-582: Missing.

Show »
Length:1,253
Mass (Da):145,673
Checksum:i3D6B1D906991A24F
GO

Computationally mapped potential isoform sequencesi

There are 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E7EVJ5E7EVJ5_HUMAN
Cytoplasmic FMR1-interacting protei...
CYFIP2
1,227Annotation score:
E7EW33E7EW33_HUMAN
Cytoplasmic FMR1-interacting protei...
CYFIP2
1,057Annotation score:
A0A087WTQ3A0A087WTQ3_HUMAN
Cytoplasmic FMR1-interacting protei...
CYFIP2
222Annotation score:
A0A087WVE1A0A087WVE1_HUMAN
Cytoplasmic FMR1-interacting protei...
CYFIP2
188Annotation score:
H7C229H7C229_HUMAN
Cytoplasmic FMR1-interacting protei...
CYFIP2
1,117Annotation score:
A0A087WWZ1A0A087WWZ1_HUMAN
Cytoplasmic FMR1-interacting protei...
CYFIP2
295Annotation score:
A0A087WZL7A0A087WZL7_HUMAN
Cytoplasmic FMR1-interacting protei...
CYFIP2
101Annotation score:
E5RKA3E5RKA3_HUMAN
Cytoplasmic FMR1-interacting protei...
CYFIP2
68Annotation score:
A0A087WV63A0A087WV63_HUMAN
Cytoplasmic FMR1-interacting protei...
CYFIP2
71Annotation score:

Sequence cautioni

The sequence BAA86482 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAD97324 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti796I → T in AAH11762 (PubMed:15489334).Curated1

RNA editingi

Edited at position 320.3 Publications
Partially edited. Editing appears to be brain-specific.1 Publication

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08081787R → C in EIEE65. 1 Publication1
Natural variantiVAR_08081887R → L in EIEE65. 1 Publication1
Natural variantiVAR_08081987R → P in EIEE65. 1 Publication1
Natural variantiVAR_030953320K → E in RNA edited version. 1 PublicationCorresponds to variant dbSNP:rs3207362Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_052349558 – 582Missing in isoform 2. 3 PublicationsAdd BLAST25

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
CCDSiCCDS75364.1 [Q96F07-2]
CCDS78077.1 [Q96F07-1]
PIRiT46248
RefSeqiNP_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]
UniGeneiHs.519702

Genome annotation databases

EnsembliENST00000616178; ENSP00000479719; ENSG00000055163 [Q96F07-1]
ENST00000618329; ENSP00000484819; ENSG00000055163 [Q96F07-2]
ENST00000620254; ENSP00000479968; ENSG00000055163 [Q96F07-2]
GeneIDi26999
KEGGihsa:26999
UCSCiuc003lwt.5 human [Q96F07-1]

Keywords - Coding sequence diversityi

Alternative splicing, RNA editing

Similar 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
CCDSiCCDS75364.1 [Q96F07-2]
CCDS78077.1 [Q96F07-1]
PIRiT46248
RefSeqiNP_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]
UniGeneiHs.519702

3D structure databases

ProteinModelPortaliQ96F07
SMRiQ96F07
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117945, 55 interactors
IntActiQ96F07, 22 interactors
MINTiQ96F07
STRINGi9606.ENSP00000325817

PTM databases

iPTMnetiQ96F07
PhosphoSitePlusiQ96F07

Polymorphism and mutation databases

BioMutaiCYFIP2
DMDMi134034199

Proteomic databases

EPDiQ96F07
MaxQBiQ96F07
PaxDbiQ96F07
PeptideAtlasiQ96F07
PRIDEiQ96F07
ProteomicsDBi76481
76482 [Q96F07-2]

Protocols and materials databases

DNASUi26999
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000616178; ENSP00000479719; ENSG00000055163 [Q96F07-1]
ENST00000618329; ENSP00000484819; ENSG00000055163 [Q96F07-2]
ENST00000620254; ENSP00000479968; ENSG00000055163 [Q96F07-2]
GeneIDi26999
KEGGihsa:26999
UCSCiuc003lwt.5 human [Q96F07-1]

Organism-specific databases

CTDi26999
DisGeNETi26999
EuPathDBiHostDB:ENSG00000055163.18
GeneCardsiCYFIP2
HGNCiHGNC:13760 CYFIP2
HPAiCAB055519
HPA068106
HPA071459
MalaCardsiCYFIP2
MIMi606323 gene
618008 phenotype
neXtProtiNX_Q96F07
OpenTargetsiENSG00000055163
Orphaneti442835 Undetermined early-onset epileptic encephalopathy
PharmGKBiPA38368
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3534 Eukaryota
ENOG410XPKW LUCA
GeneTreeiENSGT00500000044831
HOVERGENiHBG053209
InParanoidiQ96F07
KOiK05749
OMAiATNRFVK
OrthoDBiEOG091G0105
PhylomeDBiQ96F07

Enzyme and pathway databases

ReactomeiR-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

ChiTaRSiCYFIP2 human
GeneWikiiCYFIP2
GenomeRNAii26999
PROiPR:Q96F07
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000055163 Expressed in 231 organ(s), highest expression level in renal medulla
CleanExiHS_CYFIP2
ExpressionAtlasiQ96F07 baseline and differential
GenevisibleiQ96F07 HS

Family and domain databases

InterProiView protein in InterPro
IPR008081 Cytoplasmic_FMR1-int
IPR009828 DUF1394
PANTHERiPTHR12195 PTHR12195, 1 hit
PfamiView protein in Pfam
PF07159 DUF1394, 1 hit
PF05994 FragX_IP, 2 hits
PIRSFiPIRSF008153 FMR1_interacting, 1 hit
PRINTSiPR01698 CYTOFMRPINTP
ProtoNetiSearch...

Entry informationi

Entry nameiCYFP2_HUMAN
AccessioniPrimary (citable) accession number: Q96F07
Secondary accession number(s): A6NLT2
, D3DQJ3, Q53EN5, Q9NTK4, Q9ULQ2, Q9UN29
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 6, 2007
Last sequence update: March 6, 2007
Last modified: November 7, 2018
This is version 137 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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 proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
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