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

    Gene ID: 26999, updated on 10-Dec-2024

    Summary

    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 several processes, including activation of cysteine-type endopeptidase activity; cell-cell adhesion; and regulation of postsynapse assembly. 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, Dec 2024]
    Expression
    Broad expression in kidney (RPKM 63.0), brain (RPKM 45.0) and 14 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CYFIP2 in Genome Data Viewer
    Location:
    5q33.3
    Exon count:
    36
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (157266123..157395594)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (157785054..157914553)
    RS_2024_09 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    HIV-1 interactions

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001037333.3NP_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:3881221
      FragX_IP; Cytoplasmic Fragile-X interacting family
    2. NM_001291721.2NP_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:3621195
      FragX_IP; Cytoplasmic Fragile-X interacting family
    3. NM_001291722.2NP_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:3881246
      FragX_IP; Cytoplasmic Fragile-X interacting family
      pfam07159
      Location:65267
      DUF1394; Protein of unknown function (DUF1394)
    4. NM_014376.4NP_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:3881221
      FragX_IP; Cytoplasmic Fragile-X interacting family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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_011534516.4XP_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:3881221
      FragX_IP; Cytoplasmic Fragile-X interacting family
    2. XM_047417100.1XP_047273056.1  cytoplasmic FMR1-interacting protein 2 isoform X1

      UniProtKB/TrEMBL
      B7Z8N7
    3. XM_047417101.1XP_047273057.1  cytoplasmic FMR1-interacting protein 2 isoform X2

      UniProtKB/TrEMBL
      B7Z4I3
    4. XM_047417102.1XP_047273058.1  cytoplasmic FMR1-interacting protein 2 isoform X3

      UniProtKB/TrEMBL
      B7Z4I3

    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_054352376.1XP_054208351.1  cytoplasmic FMR1-interacting protein 2 isoform X1

      UniProtKB/TrEMBL
      B7Z8N7
    2. XM_054352377.1XP_054208352.1  cytoplasmic FMR1-interacting protein 2 isoform X2

      UniProtKB/TrEMBL
      B7Z4I3
    3. XM_054352378.1XP_054208353.1  cytoplasmic FMR1-interacting protein 2 isoform X3

      UniProtKB/TrEMBL
      B7Z4I3

    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.