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    CYFIP2 cytoplasmic FMR1 interacting protein 2 [ Homo sapiens (human) ]

    Gene ID: 26999, updated on 5-May-2024

    Summary

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    Official Symbol
    CYFIP2provided by HGNC
    Official Full Name
    cytoplasmic FMR1 interacting protein 2provided by HGNC
    Primary source
    HGNC:HGNC:13760
    See related
    Ensembl:ENSG00000055163 MIM:606323; AllianceGenome:HGNC:13760
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DEE65; EIEE65; PIR121
    Summary
    Predicted to enable small GTPase binding activity. Involved in activation of cysteine-type endopeptidase activity; apoptotic process; and cell-cell adhesion. Located in perinuclear region of cytoplasm and synapse. Part of SCAR complex. Implicated in developmental and epileptic encephalopathy 65. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in kidney (RPKM 63.0), brain (RPKM 45.0) and 14 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    5q33.3
    Exon count:
    36
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (157266123..157395594)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (157785054..157914553)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (156693133..156822602)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23500 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23501 Neighboring gene golgi associated RAB2 interactor family member 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16556 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23502 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23503 Neighboring gene IL2 inducible T cell kinase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23504 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23505 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23506 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23507 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16557 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23508 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23509 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23510 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23511 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:156713648-156714148 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:156714149-156714649 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16558 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:156789204-156789414 Neighboring gene fibronectin type III domain containing 9 Neighboring gene NIPAL4 divergent transcript Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:156817055-156818254 Neighboring gene ribosomal protein L26 pseudogene 18 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16559 Neighboring gene NIPA like domain containing 4

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Molecular Dynamics of CYFIP2 Protein and Its R87C Variant Related to Early Infantile Epileptic Encephalopathy. Biembengut ÍV, et al. Int J Mol Sci, 2022 Aug 5. PMID 35955843, Free PMC Article
    2. New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics. Begemann A, et al. Genet Med, 2021 Mar. PMID 33149277, Free PMC Article
    3. Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures. Zweier M, et al. Eur J Hum Genet, 2019 May. PMID 30664714, Free PMC Article
    4. De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathy. Nakashima M, et al. Ann Neurol, 2018 Apr. PMID 29534297
    5. CYFIP2, a direct p53 target, is leptomycin-B sensitive. Jackson RS 2nd, et al. Cell Cycle, 2007 Jan 1. PMID 17245118

    See all (102) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Different dysregulations of CYFIP1 and CYFIP2 in distinct types of dementia.
      Title: Different dysregulations of CYFIP1 and CYFIP2 in distinct types of dementia.
    2. CYFIP2 serves as a prognostic biomarker and correlates with tumor immune microenvironment in human cancers.
      Title: CYFIP2 serves as a prognostic biomarker and correlates with tumor immune microenvironment in human cancers.
    3. Molecular Dynamics of CYFIP2 Protein and Its R87C Variant Related to Early Infantile Epileptic Encephalopathy.
      Title: Molecular Dynamics of CYFIP2 Protein and Its R87C Variant Related to Early Infantile Epileptic Encephalopathy.
    4. Cytoplasmic FMR1 interacting protein (CYFIP) family members and their function in neural development and disorders.
      Title: Cytoplasmic FMR1 interacting protein (CYFIP) family members and their function in neural development and disorders.
    5. NUAK2 silencing inhibits the proliferation, migration and epithelialtomesenchymal transition of cervical cancer cells via upregulating CYFIP2.
      Title: NUAK2 silencing inhibits the proliferation, migration and epithelial‑to‑mesenchymal transition of cervical cancer cells via upregulating CYFIP2.
    6. New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics.
      Title: New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics.
    7. This study evidenced a variety of de novo variants in CYFIP2 as a novel cause of mostly severe intellectual disability with seizures and muscular hypotonia.
      Title: Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures.
    8. The importance of the ATRX/DAXX pathway was confirmed by the first-ever pancreatic neuroendocrine neoplasms (pNEN)-specific protein-damaging hotspot mutation in DAXX. In this study, both novel genes, including the pro-apoptotic CYFIP2 gene and hedgehog signaling PTCH2, and novel pathways, such as the MAPK-ERK pathway, were implicated in pNEN.
      Title: Hotspot DAXX, PTCH2 and CYFIP2 mutations in pancreatic neuroendocrine neoplasms.
    9. This study identified de novo CYFIP2 variants at the Arg87 residue in cause early-onset epileptic encephalopathy.
      Title: De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathy.
    10. The current study provides further supports for contribution of CYFIP1/2 in the pathogenesis of autism spectrum disorder (ASD) and potentiates it as a peripheral marker for ASD diagnosis.
      Title: Cytoplasmic FMRP interacting protein 1/2 (CYFIP1/2) expression analysis in autism.
    Submit: New GeneRIF Correction See all GeneRIFs (18)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Developmental and epileptic encephalopathy, 65
    MedGen: C4693925 OMIM: 618008 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of CYFIP2 PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    NOT enables RNA 7-methylguanosine cap binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables small GTPase binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in activation of cysteine-type endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in activation of cysteine-type endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in apoptotic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in axon guidance IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cell morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cell projection assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cell-cell adhesion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in dendrite extension IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of neurotrophin TRK receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of proteolysis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of actin filament polymerization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of postsynapse assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of postsynapse assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of SCAR complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in membrane HDA PubMed 
    is_active_in neuron projection IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in synapse IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    cytoplasmic FMR1-interacting protein 2
    Names
    p53-inducible protein 121

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001037333.3 → NP_001032410.1  cytoplasmic FMR1-interacting protein 2 isoform a

      See identical proteins and their annotated locations for NP_001032410.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) and variant 2 encode the same isoform (a).
      Source sequence(s)
      AC008676, AL136549, BC011762, BG699081
      Consensus CDS
      CCDS75364.1
      UniProtKB/TrEMBL
      B7Z8N7
      Related
      ENSP00000479968.1, ENST00000620254.5
      Conserved Domains (1) summary
      pfam05994
      Location:388 → 1221
      FragX_IP; Cytoplasmic Fragile-X interacting family

    2. NM_001291721.2 → NP_001278650.1  cytoplasmic FMR1-interacting protein 2 isoform b

      See identical proteins and their annotated locations for NP_001278650.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (b) is shorter than isoform a.
      Source sequence(s)
      AC008676, AK303702, AL136549, BC011762, BG699081
      Consensus CDS
      CCDS78078.1
      UniProtKB/TrEMBL
      B7Z8N7, E7EVJ5
      Related
      ENSP00000430904.1, ENST00000521420.5
      Conserved Domains (1) summary
      pfam05994
      Location:362 → 1195
      FragX_IP; Cytoplasmic Fragile-X interacting family

    3. NM_001291722.2 → NP_001278651.1  cytoplasmic FMR1-interacting protein 2 isoform c

      See identical proteins and their annotated locations for NP_001278651.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) contains an alternate in-frame exon in the central coding region, compared to variant 1. The encoded isoform (c) is longer than isoform a.
      Source sequence(s)
      AB032994, AC008676, BC011762, BG699081
      Consensus CDS
      CCDS78077.1
      UniProtKB/Swiss-Prot
      A6NLT2, D3DQJ3, Q53EN5, Q96F07, Q9NTK4, Q9ULQ2, Q9UN29
      UniProtKB/TrEMBL
      A0A8V8TNU3
      Related
      ENSP00000479719.1, ENST00000616178.4
      Conserved Domains (2) summary
      pfam05994
      Location:388 → 1246
      FragX_IP; Cytoplasmic Fragile-X interacting family
      pfam07159
      Location:65 → 267
      DUF1394; Protein of unknown function (DUF1394)

    4. NM_014376.4 → NP_055191.2  cytoplasmic FMR1-interacting protein 2 isoform a

      See identical proteins and their annotated locations for NP_055191.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) contains an alternate exon in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same isoform (a).
      Source sequence(s)
      AC008676, AC009185, AL136549, BC011762
      Consensus CDS
      CCDS75364.1
      UniProtKB/TrEMBL
      B7Z8N7
      Related
      ENSP00000484819.1, ENST00000618329.4
      Conserved Domains (1) summary
      pfam05994
      Location:388 → 1221
      FragX_IP; Cytoplasmic Fragile-X interacting family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      157266123..157395594
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011534516.4 → XP_011532818.1  cytoplasmic FMR1-interacting protein 2 isoform X1

      See identical proteins and their annotated locations for XP_011532818.1

      UniProtKB/TrEMBL
      B7Z8N7
      Conserved Domains (1) summary
      pfam05994
      Location:388 → 1221
      FragX_IP; Cytoplasmic Fragile-X interacting family

    2. XM_047417100.1 → XP_047273056.1  cytoplasmic FMR1-interacting protein 2 isoform X1

    3. XM_047417101.1 → XP_047273057.1  cytoplasmic FMR1-interacting protein 2 isoform X2

    4. XM_047417102.1 → XP_047273058.1  cytoplasmic FMR1-interacting protein 2 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      157785054..157914553
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054352376.1 → XP_054208351.1  cytoplasmic FMR1-interacting protein 2 isoform X1

    2. XM_054352377.1 → XP_054208352.1  cytoplasmic FMR1-interacting protein 2 isoform X2

    3. XM_054352378.1 → XP_054208353.1  cytoplasmic FMR1-interacting protein 2 isoform X3

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001037332.2: Suppressed sequence

      Description
      NM_001037332.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96F07.2 GenPept UniProtKB/Swiss-Prot:Q96F07

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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