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Aliases for CYFIP2 Gene

Aliases for CYFIP2 Gene

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

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 Fragile X Syndrome and Amyotrophic Lateral Sclerosis 1. Among its related pathways are Innate Immune System and RET signaling. GO annotations related to this gene include chemokine activity. An important paralog of this gene is CYFIP1.

UniProtKB/Swiss-Prot 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

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CYFIP2 Gene

Genomics for CYFIP2 Gene

Regulatory Elements for CYFIP2 Gene

Enhancers for CYFIP2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05G157265 1.7 FANTOM5 ENCODE dbSUPER 34.9 +4.2 4156 9.9 HDGF HNRNPUL1 PKNOX1 FOXA2 WRNIP1 SIN3A FEZF1 YY1 ZNF766 ZNF143 CYFIP2 LOC102724404 HAVCR2 ITK MED7 NIPAL4 ADAM19 ENSG00000248544 ENSG00000253653 GC05P157304
GH05G157287 1.9 FANTOM5 Ensembl ENCODE dbSUPER 28.3 +24.0 24013 4.2 HNRNPUL1 PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 CYFIP2 ADAM19 ENSG00000253653 HAVCR2 ITK MED7 NIPAL4 GC05P157304
GH05G157280 1.5 FANTOM5 Ensembl ENCODE dbSUPER 13.9 +15.0 15008 1.0 ZBTB11 CEBPB KLF17 CEBPG EP300 ATF2 GABPA FOSL1 JUND PRDM6 CYFIP2 LOC102724404 ITK NIPAL4 ADAM19 HAVCR2 ENSG00000253653 GC05P157304
GH05G157510 1.4 Ensembl ENCODE dbSUPER 9.6 +246.4 246417 3.6 ELF3 FOXA2 ARNT SIN3A RAD21 RARA FOS KLF13 CEBPB PPARG NIPAL4 ADAM19 LOC102724404 ENSG00000248544 CYFIP2 ENSG00000253519
GH05G157514 1.4 FANTOM5 Ensembl ENCODE dbSUPER 9.6 +250.3 250324 3.7 PKNOX1 BHLHE40 NR2F1 SIN3A JUNB RAD21 NR2F2 FOSL1 JUND PBX2 ADAM19 LOC102724404 FNDC9 NIPAL4 ENSG00000248544 CYFIP2 HAVCR2 ENSG00000253519
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CYFIP2 on UCSC Golden Path with GeneCards custom track

Promoters for CYFIP2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000189530 221 1401 HDGF HNRNPUL1 PKNOX1 FOXA2 SIN3A FEZF1 YY1 ETS1 GLIS2 ZNF207

Genomic Location for CYFIP2 Gene

Chromosome:
5
Start:
157,266,079 bp from pter
End:
157,395,598 bp from pter
Size:
129,520 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=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAD97324.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; 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, isoforms=2545, isoforms=2775, Lys903, Lys916, Lys1077, isoforms=21234, Lys1248, and isoforms=21251
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CYFIP2 Gene

Domains & Families for CYFIP2 Gene

Suggested Antigen Peptide Sequences for CYFIP2 Gene

GenScript: Design optimal peptide antigens:

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

No data available for Gene Families for CYFIP2 Gene

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.

Gene Ontology (GO) - Molecular Function for CYFIP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
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

Animal Models for CYFIP2 Gene

MGI Knock Outs for CYFIP2:

Animal Model Products

CRISPR Products

miRNA for CYFIP2 Gene

miRTarBase miRNAs that target CYFIP2

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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
extracellular 5
cytosol 5
nucleus 4
cytoskeleton 2
mitochondrion 2
lysosome 1

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 IDA 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

Gene Ontology (GO) - Biological Process for CYFIP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process IEA,IDA 10449408
GO:0007155 cell adhesion IEA --
GO:0016337 single organismal cell-cell adhesion IDA 15048733
GO:0031175 neuron projection development IEA --
GO:0038096 Fc-gamma receptor signaling pathway involved in phagocytosis TAS --
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

Unigene Clusters for CYFIP2 Gene

Cytoplasmic FMR1 interacting protein 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA 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
ECgene alternative splicing isoforms for
CYFIP2

Expression for CYFIP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of CYFIP2 Gene:

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

Primer Products

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 34 35
  • 99.65 (n)
oppossum
(Monodelphis domestica)
Mammalia CYFIP2 35
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CYFIP2 35
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CYFIP2 34 35
  • 93.03 (n)
cow
(Bos Taurus)
Mammalia CYFIP2 34 35
  • 92.36 (n)
mouse
(Mus musculus)
Mammalia Cyfip2 34 16 35
  • 90.9 (n)
chicken
(Gallus gallus)
Aves CYFIP2 34 35
  • 86.19 (n)
lizard
(Anolis carolinensis)
Reptilia CYFIP2 35
  • 98 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cyfip2 34
  • 82.97 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.11884 34
zebrafish
(Danio rerio)
Actinopterygii cyfip2 34 35
  • 83.55 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000195 34
  • 66.29 (n)
fruit fly
(Drosophila melanogaster)
Insecta Sra-1 36 34 35
  • 65.86 (n)
worm
(Caenorhabditis elegans)
Secernentea gex-2 35
  • 49 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons PIR121 34
  • 44.31 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 64 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3302 34
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)

Paralogs for CYFIP2 Gene

Paralogs for CYFIP2 Gene

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

Variants for CYFIP2 Gene

Sequence variations from dbSNP and Humsavar for CYFIP2 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs1000000193 -- 157,381,313(+) CATTA(C/T)TGTAC intron-variant
rs1000003423 -- 157,304,983(+) CTCCC(A/C)CTTAT intron-variant
rs1000010991 -- 157,322,557(+) TTCTC(A/G)GCTCC intron-variant
rs1000011808 -- 157,391,286(+) ACAAA(A/G)GGCTT intron-variant
rs1000084228 -- 157,385,366(+) AAACT(G/T)AGTCA intron-variant

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)

Relevant External Links 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

(2) MalaCards diseases for CYFIP2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
fragile x syndrome
  • fragile x mental retardation syndrome
amyotrophic lateral sclerosis 1
  • amyotrophic lateral sclerosis
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for CYFIP2

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

No data available for UniProtKB/Swiss-Prot and 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 S.J. (J. Allergy Clin. Immunol. 2010) 3 22 46 64
  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. (Eur. J. Immunol. 2004) 3 4 22 64
  3. Subcellular fractionation and localization studies reveal a direct interaction of the fragile X mental retardation protein (FMRP) with nucleolin. (PMID: 24658146) Taha M.S. … Ahmadian M.R. (PLoS ONE 2014) 3 4 64
  4. Analyses of associations with asthma in four asthma population samples from Canada and Australia. (PMID: 19247692) Daley D. … Hudson T.J. (Hum. Genet. 2009) 3 46 64
  5. Analyses of associations between three positionally cloned asthma candidate genes and asthma or asthma-related phenotypes in a Chinese population. (PMID: 19951440) Zhou H. … Xu X. (BMC Med. Genet. 2009) 3 46 64

Products for CYFIP2 Gene

Sources for CYFIP2 Gene

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