Aliases for CYFIP2 Gene

Aliases for CYFIP2 Gene

  • Cytoplasmic FMR1 Interacting Protein 2 2 3 5
  • Cytoplasmic FMR1-Interacting Protein 2 3 4
  • P53-Inducible Protein 121 3 4
  • PIR121 3 4
  • P53 Inducible Protein 2
  • KIAA1168 4
  • EIEE65 3

External Ids for CYFIP2 Gene

Previous GeneCards Identifiers for CYFIP2 Gene

  • GC05P156742
  • GC05P156628
  • GC05P156673
  • GC05P156674
  • GC05P151780

Summaries for CYFIP2 Gene

GeneCards Summary for CYFIP2 Gene

CYFIP2 (Cytoplasmic FMR1 Interacting Protein 2) is a Protein Coding gene. Diseases associated with CYFIP2 include Epileptic Encephalopathy, Early Infantile, 65 and Undetermined Early-Onset Epileptic Encephalopathy. Among its related pathways are Regulation of actin dynamics for phagocytic cup formation and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include chemokine activity. An important paralog of this gene is CYFIP1.

UniProtKB/Swiss-Prot Summary for CYFIP2 Gene

  • 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).

Gene Wiki entry for CYFIP2 Gene

Additional gene information for CYFIP2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CYFIP2 Gene

Genomics for CYFIP2 Gene

GeneHancer (GH) Regulatory Elements for CYFIP2 Gene

Promoters and enhancers for CYFIP2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CYFIP2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CYFIP2

Top Transcription factor binding sites by QIAGEN in the CYFIP2 gene promoter:
  • Elk-1
  • MRF-2
  • POU6F1 (c2)
  • SRY

Genomic Locations for CYFIP2 Gene

Genomic Locations for CYFIP2 Gene
chr5:157,266,079-157,395,598
(GRCh38/hg38)
Size:
129,520 bases
Orientation:
Plus strand
chr5:156,693,089-156,822,606
(GRCh37/hg19)
Size:
129,518 bases
Orientation:
Plus strand

Genomic View for CYFIP2 Gene

Genes around CYFIP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CYFIP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CYFIP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CYFIP2 Gene

Proteins for CYFIP2 Gene

  • Protein details for CYFIP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96F07-CYFP2_HUMAN
    Recommended name:
    Cytoplasmic FMR1-interacting protein 2
    Protein Accession:
    Q96F07
    Secondary Accessions:
    • A6NLT2
    • D3DQJ3
    • Q53EN5
    • Q9NTK4
    • Q9ULQ2
    • Q9UN29

    Protein attributes for CYFIP2 Gene

    Size:
    1278 amino acids
    Molecular mass:
    148399 Da
    Quaternary structure:
    • 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).
    SequenceCaution:
    • Sequence=BAA86482.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAD97324.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for CYFIP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CYFIP2 Gene

Post-translational modifications for CYFIP2 Gene

  • Ubiquitination at Lys197, Lys300, Lys545, Lys903, Lys916, Lys1077, Lys1234, Lys1248, and Lys1251
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CYFIP2 Gene

Domains & Families for CYFIP2 Gene

Gene Families for CYFIP2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CYFIP2 Gene

Blocks:
  • Cytoplasmic fragile X mental retardation protein interacting protein signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CYFIP2 Gene

GenScript: Design optimal peptide antigens:
  • p53-inducible protein 121 (CYFP2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96F07

UniProtKB/Swiss-Prot:

CYFP2_HUMAN :
  • Belongs to the CYFIP family.
Family:
  • Belongs to the CYFIP family.
genes like me logo Genes that share domains with CYFIP2: view

Function for CYFIP2 Gene

Molecular function for CYFIP2 Gene

UniProtKB/Swiss-Prot 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).
UniProtKB/Swiss-Prot Induction:
By p53/TP53.

Phenotypes From GWAS Catalog for CYFIP2 Gene

Gene Ontology (GO) - Molecular Function for CYFIP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000340 NOT RNA 7-methylguanosine cap binding IBA 21873635
GO:0005515 protein binding IPI 11438699
genes like me logo Genes that share ontologies with CYFIP2: view
genes like me logo Genes that share phenotypes with CYFIP2: view

Human Phenotype Ontology for CYFIP2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CYFIP2 Gene

MGI Knock Outs for CYFIP2:
  • Cyfip2 Cyfip2<tm1a(EUCOMM)Wtsi>
  • Cyfip2 Cyfip2<tm1(KOMP)Vlcg>

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CYFIP2 Gene

Localization for CYFIP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CYFIP2 Gene

Cytoplasm. Nucleus. Cytoplasm, perinuclear region. Cell junction, synapse, synaptosome. 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}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CYFIP2 gene
Compartment Confidence
cytosol 5
nucleus 4
plasma membrane 2
cytoskeleton 2
mitochondrion 2
extracellular 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Plasma membrane (3)
  • Endoplasmic reticulum (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CYFIP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IDA 11438699
GO:0005829 cytosol TAS --
GO:0016020 membrane HDA 19946888
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with CYFIP2: view

Pathways & Interactions for CYFIP2 Gene

genes like me logo Genes that share pathways with CYFIP2: view

Pathways by source for CYFIP2 Gene

Gene Ontology (GO) - Biological Process for CYFIP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000902 cell morphogenesis IBA 21873635
GO:0006915 apoptotic process IDA,IBA 10449408
GO:0007155 cell adhesion IEA --
GO:0007411 axon guidance IBA 21873635
GO:0030031 cell projection assembly IBA 21873635
genes like me logo Genes that share ontologies with CYFIP2: view

No data available for SIGNOR curated interactions for CYFIP2 Gene

Drugs & Compounds for CYFIP2 Gene

No Compound Related Data Available

Transcripts for CYFIP2 Gene

mRNA/cDNA for CYFIP2 Gene

5 REFSEQ mRNAs :
20 NCBI additional mRNA sequence :
24 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CYFIP2 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b · 11c · 11d ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^
SP1: -
SP2: - - - - -
SP3: - -
SP4: - - - - -
SP5: - - - - - - -
SP6:
SP7: - -
SP8:
SP9:
SP10:
SP11:
SP12:
SP13: - -
SP14:
SP15:
SP16:

ExUns: 20 ^ 21 ^ 22 ^ 23 ^ 24a · 24b · 24c ^ 25a · 25b ^ 26a · 26b ^ 27 ^ 28 ^ 29a · 29b ^ 30 ^ 31a · 31b ^ 32 ^ 33a · 33b · 33c ^ 34 ^ 35a · 35b · 35c ^
SP1: - - - - - - - -
SP2: - - - - - - - -
SP3: - - - - - - - -
SP4:
SP5:
SP6:
SP7:
SP8: - -
SP9: -
SP10: - - - -
SP11:
SP12: - -
SP13:
SP14: -
SP15: - -
SP16:

ExUns: 36a · 36b ^ 37a · 37b · 37c
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:

Relevant External Links for CYFIP2 Gene

GeneLoc Exon Structure for
CYFIP2

Expression for CYFIP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CYFIP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CYFIP2 Gene

This gene is overexpressed in Whole Blood (x4.7).

Protein differential expression in normal tissues from HIPED for CYFIP2 Gene

This gene is overexpressed in Frontal cortex (14.7), Lymph node (12.6), Brain (10.0), and Fetal Brain (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CYFIP2 Gene



Protein tissue co-expression partners for CYFIP2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CYFIP2

SOURCE GeneReport for Unigene cluster for CYFIP2 Gene:

Hs.519702

mRNA Expression by UniProt/SwissProt for CYFIP2 Gene:

Q96F07-CYFP2_HUMAN
Tissue specificity: Expressed in T-cells. Increased expression is observed in CD4(+) T-lymphocytes from patients with multiple sclerosis (at protein level).

Evidence on tissue expression from TISSUES for CYFIP2 Gene

  • Nervous system(5)
  • Kidney(2.4)
  • Blood(2)
genes like me logo Genes that share expression patterns with CYFIP2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CYFIP2 Gene

Orthologs for CYFIP2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CYFIP2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CYFIP2 31 30
  • 99.65 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CYFIP2 31
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CYFIP2 31
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CYFIP2 31 30
  • 93.03 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CYFIP2 31 30
  • 92.36 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Cyfip2 17 31 30
  • 90.9 (n)
chicken
(Gallus gallus)
Aves CYFIP2 31 30
  • 86.19 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CYFIP2 31
  • 98 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cyfip2 30
  • 82.97 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.11884 30
zebrafish
(Danio rerio)
Actinopterygii cyfip2 31 30
  • 83.55 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000195 30
  • 66.29 (n)
fruit fly
(Drosophila melanogaster)
Insecta Sra-1 31 32 30
  • 65.86 (n)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea gex-2 31
  • 49 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons PIR121 30
  • 44.31 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 64 (a)
OneToMany
Cin.3302 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3302 30
Species where no ortholog for CYFIP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CYFIP2 Gene

ENSEMBL:
Gene Tree for CYFIP2 (if available)
TreeFam:
Gene Tree for CYFIP2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CYFIP2: view image

Paralogs for CYFIP2 Gene

Paralogs for CYFIP2 Gene

(2) SIMAP similar genes for CYFIP2 Gene using alignment to 11 proteins:

  • CYFP2_HUMAN
  • E5RFQ0_HUMAN
  • E5RJW3_HUMAN
  • E5RKA3_HUMAN
  • E7EVF4_HUMAN
  • E7EVJ5_HUMAN
  • E7EW33_HUMAN
  • E7EWA4_HUMAN
  • F5H583_HUMAN
  • H7C229_HUMAN
  • L0R6F7_HUMAN
genes like me logo Genes that share paralogs with CYFIP2: view

Variants for CYFIP2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CYFIP2 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
774179 Benign: not provided 157,300,765(+) C/T SYNONYMOUS_VARIANT
776085 Benign: not provided 157,319,767(+) C/T SYNONYMOUS_VARIANT
776086 Benign: not provided 157,383,305(+) C/T SYNONYMOUS_VARIANT
788527 Benign: not provided 157,389,317(+) G/A SYNONYMOUS_VARIANT
802171 Likely Pathogenic: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65 157,294,834(+) C/A MISSENSE_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for CYFIP2 Gene

Structural Variations from Database of Genomic Variants (DGV) for CYFIP2 Gene

Variant ID Type Subtype PubMed ID
dgv1149e214 CNV loss 21293372
esv3570517 CNV loss 25503493
esv3607313 CNV gain 21293372
nsv474929 CNV novel sequence insertion 20440878
nsv515686 CNV loss 19592680
nsv600132 CNV loss 21841781
nsv830526 CNV loss 17160897
nsv950432 CNV duplication 24416366

Variation tolerance for CYFIP2 Gene

Gene Damage Index Score: 1.55; 29.98% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CYFIP2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CYFIP2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CYFIP2 Gene

Disorders for CYFIP2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for CYFIP2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CYFP2_HUMAN
  • Epileptic encephalopathy, early infantile, 65 (EIEE65) [MIM:618008]: A 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. {ECO:0000269 PubMed:29534297}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for CYFIP2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CYFIP2: view

No data available for Genatlas for CYFIP2 Gene

Publications for CYFIP2 Gene

  1. Evaluation of candidate genes in a genome-wide association study of childhood asthma in Mexicans. (PMID: 19910030) Wu H … London SJ (The Journal of allergy and clinical immunology 2010) 3 23 41 54
  2. CYFIP2 is highly abundant in CD4+ cells from multiple sclerosis patients and is involved in T cell adhesion. (PMID: 15048733) Mayne M … Melanson M (European journal of immunology 2004) 3 4 23 54
  3. De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathy. (PMID: 29534297) Nakashima M … Matsumoto N (Annals of neurology 2018) 3 4 54
  4. Subcellular fractionation and localization studies reveal a direct interaction of the fragile X mental retardation protein (FMRP) with nucleolin. (PMID: 24658146) Taha MS … Ahmadian MR (PloS one 2014) 3 4 54
  5. Analyses of associations with asthma in four asthma population samples from Canada and Australia. (PMID: 19247692) Daley D … Hudson TJ (Human genetics 2009) 3 41 54

Products for CYFIP2 Gene

Sources for CYFIP2 Gene