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UniProtKB - Q96F07 (CYFP2_HUMAN)

Entry version 145 (16 Oct 2019)
Sequence version 2 (06 Mar 2007)
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Protein

Cytoplasmic FMR1-interacting protein 2

Gene

CYFIP2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processApoptosis, Cell adhesion

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...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

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Cytoplasmic FMR1-interacting protein 2
Alternative name(s):
p53-inducible protein 121
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:CYFIP2Imported
Synonyms:KIAA1168, PIR121Imported
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 5

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:13760 CYFIP2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		606323 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q96F07

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell junction, Cytoplasm, Nucleus, Synapse, Synaptosome

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_08081787R → C in EIEE65. 1 PublicationCorresponds to variant dbSNP:rs1131692231EnsemblClinVar.1
Natural variantiVAR_08081887R → L in EIEE65. 1 PublicationCorresponds to variant dbSNP:rs1554108163EnsemblClinVar.1
Natural variantiVAR_08081987R → P in EIEE65. 1 Publication1

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

DisGeNET

More...DisGeNETi		26999

MalaCards human disease database

More...MalaCardsi		CYFIP2
MIMi618008 phenotype

Open Targets

More...OpenTargetsi		ENSG00000055163

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		442835 Undetermined early-onset epileptic encephalopathy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA38368

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q96F07

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		CYFIP2

Domain mapping of disease mutations (DMDM)

More...DMDMi		134034199

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002797091 – 1278Cytoplasmic FMR1-interacting protein 2Add BLAST1278

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei1062N6-acetyllysineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q96F07

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q96F07

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q96F07

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q96F07

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q96F07

PeptideAtlas

More...PeptideAtlasi		Q96F07

PRoteomics IDEntifications database

More...PRIDEi		Q96F07

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		76481 [Q96F07-1]
76482 [Q96F07-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q96F07

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q96F07

SwissPalm database of S-palmitoylation events

More...SwissPalmi		Q96F07

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

<p>This subsection of the ‘Expression’ section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

By p53/TP53.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000055163 Expressed in 231 organ(s), highest expression level in renal medulla

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q96F07 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q96F07 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		CAB055519
HPA068106
HPA071459

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		117945, 66 interactors

Protein interaction database and analysis system

More...IntActi		Q96F07, 41 interactors

Molecular INTeraction database

More...MINTi		Q96F07

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000444645

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q96F07

Database of comparative protein structure models

More...ModBasei		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the CYFIP family.Sequence analysis

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3534 Eukaryota
ENOG410XPKW LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00500000044831

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q96F07

KEGG Orthology (KO)

More...KOi		K05749

Identification of Orthologs from Complete Genome Data

More...OMAi		ATNRFVK

Database of Orthologous Groups

More...OrthoDBi		108507at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q96F07

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR008081 Cytoplasmic_FMR1-int
IPR009828 DUF1394

The PANTHER Classification System

More...PANTHERi		PTHR12195 PTHR12195, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF07159 DUF1394, 1 hit
PF05994 FragX_IP, 2 hits

PIRSF; a whole-protein classification database

More...PIRSFi		PIRSF008153 FMR1_interacting, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR01698 CYTOFMRPINTP

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> 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 <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>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:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E7EW33E7EW33_HUMAN
Cytoplasmic FMR1-interacting protei...
CYFIP2
1,057Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C229H7C229_HUMAN
Cytoplasmic FMR1-interacting protei...
CYFIP2
1,117Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A087WTQ3A0A087WTQ3_HUMAN
Cytoplasmic FMR1-interacting protei...
CYFIP2
222Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A087WVE1A0A087WVE1_HUMAN
Cytoplasmic FMR1-interacting protei...
CYFIP2
188Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A087WWZ1A0A087WWZ1_HUMAN
Cytoplasmic FMR1-interacting protei...
CYFIP2
295Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E5RKA3E5RKA3_HUMAN
Cytoplasmic FMR1-interacting protei...
CYFIP2
68Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A087WV63A0A087WV63_HUMAN
Cytoplasmic FMR1-interacting protei...
CYFIP2
71Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A087WZL7A0A087WZL7_HUMAN
Cytoplasmic FMR1-interacting protei...
CYFIP2
101Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAA86482 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
The sequence BAD97324 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti796I → T in AAH11762 (PubMed:15489334).Curated1

<p>This subsection of the ‘Sequence’ section provides information relevant to all types of RNA editing events (conversion, insertion, deletion of nucleotides) that lead to one or more amino acid changes compared to the translation of the non-edited RNA version.<p><a href='/help/rna_editing' target='_top'>More...</a></p>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 PublicationCorresponds to variant dbSNP:rs1131692231EnsemblClinVar.1
Natural variantiVAR_08081887R → L in EIEE65. 1 PublicationCorresponds to variant dbSNP:rs1554108163EnsemblClinVar.1
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
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_052349558 – 582Missing in isoform 2. 3 PublicationsAdd BLAST25

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

The Consensus CDS (CCDS) project

More...CCDSi		CCDS75364.1 [Q96F07-2]
CCDS78077.1 [Q96F07-1]

Protein sequence database of the Protein Information Resource

More...PIRi		T46248

NCBI Reference Sequences

More...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

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000616178; ENSP00000479719; ENSG00000055163 [Q96F07-1]
ENST00000618329; ENSP00000484819; ENSG00000055163 [Q96F07-2]
ENST00000620254; ENSP00000479968; ENSG00000055163 [Q96F07-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		26999

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:26999

UCSC genome browser

More...UCSCi		uc003lwt.5 human [Q96F07-1]

Keywords - Coding sequence diversityi

Alternative splicing, RNA editing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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]

3D structure databases

SMRiQ96F07
ModBaseiSearch...

Protein-protein interaction databases

BioGridi117945, 66 interactors
IntActiQ96F07, 41 interactors
MINTiQ96F07
STRINGi9606.ENSP00000444645

PTM databases

iPTMnetiQ96F07
PhosphoSitePlusiQ96F07
SwissPalmiQ96F07

Polymorphism and mutation databases

BioMutaiCYFIP2
DMDMi134034199

Proteomic databases

EPDiQ96F07
jPOSTiQ96F07
MassIVEiQ96F07
MaxQBiQ96F07
PaxDbiQ96F07
PeptideAtlasiQ96F07
PRIDEiQ96F07
ProteomicsDBi76481 [Q96F07-1]
76482 [Q96F07-2]

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		26999

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

Comparative Toxicogenomics Database

More...CTDi		26999
DisGeNETi26999

GeneCards: human genes, protein and diseases

More...GeneCardsi		CYFIP2
HGNCiHGNC:13760 CYFIP2
HPAiCAB055519
HPA068106
HPA071459
MalaCardsiCYFIP2
MIMi606323 gene
618008 phenotype
neXtProtiNX_Q96F07
OpenTargetsiENSG00000055163
Orphaneti442835 Undetermined early-onset epileptic encephalopathy
PharmGKBiPA38368

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3534 Eukaryota
ENOG410XPKW LUCA
GeneTreeiENSGT00500000044831
InParanoidiQ96F07
KOiK05749
OMAiATNRFVK
OrthoDBi108507at2759
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

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		CYFIP2 human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		CYFIP2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		26999
PharosiQ96F07

Protein Ontology

More...PROi		PR:Q96F07

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000055163 Expressed in 231 organ(s), highest expression level in renal medulla
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

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCYFP2_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q96F07
Secondary accession number(s): A6NLT2
, D3DQJ3, Q53EN5, Q9NTK4, Q9ULQ2, Q9UN29
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated 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.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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