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    Cyfip2 cytoplasmic FMR1 interacting protein 2 [ Mus musculus (house mouse) ]

    Gene ID: 76884, updated on 9-Dec-2024

    Summary

    Official Symbol
    Cyfip2provided by MGI
    Official Full Name
    cytoplasmic FMR1 interacting protein 2provided by MGI
    Primary source
    MGI:MGI:1924134
    See related
    Ensembl:ENSMUSG00000020340 AllianceGenome:MGI:1924134
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Pir121; mKIAA1168; 1500004I01Rik; 6430511D02Rik
    Summary
    Predicted to enable small GTPase binding activity. Involved in dendrite extension and positive regulation of neurotrophin TRK receptor signaling pathway. Part of SCAR complex. Is active in synapse. Is expressed in several structures, including central nervous system; sensory organ; skeleton; skin; and urinary system. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 65. Orthologous to human CYFIP2 (cytoplasmic FMR1 interacting protein 2). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in cortex adult (RPKM 61.0), frontal lobe adult (RPKM 50.6) and 13 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Cyfip2 in Genome Data Viewer
    Location:
    11 B1.1; 11 27.61 cM
    Exon count:
    35
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (46084676..46203686, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (46193849..46312859, complement)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene NIPA-like domain containing 4 Neighboring gene predicted gene, 35624 Neighboring gene microRNA 7239 Neighboring gene VISTA enhancer mm102 Neighboring gene fibronectin type III domain containing 9 Neighboring gene high mobility group box 1 pseudogene Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:46124833-46125038 Neighboring gene STARR-positive B cell enhancer ABC_E8394 Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:46140340-46140549 Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:46157730-46157921 Neighboring gene IL2 inducible T cell kinase Neighboring gene predicted gene 12167 Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:46202936-46203219 Neighboring gene STARR-positive B cell enhancer ABC_E3943 Neighboring gene golgi associated RAB2 interactor 3

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    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 ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in apoptotic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    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 ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cell-cell adhesion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in dendrite extension IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in neuron projection development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of neurotrophin TRK receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of proteolysis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of proteolysis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of actin filament polymerization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of postsynapse assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of postsynapse assembly ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    part_of SCAR complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of SCAR complex ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in neuron projection IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in neuron projection IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in perinuclear region of cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in perinuclear region of cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in synapse EXP
    Inferred from Experiment
    more info
    PubMed 
    is_active_in synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in synapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in synapse IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    is_active_in synapse IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in synapse ISO
    Inferred from Sequence Orthology
    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_001252459.1NP_001239388.1  cytoplasmic FMR1-interacting protein 2

      See identical proteins and their annotated locations for NP_001239388.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1-3 encode the same protein.
      Source sequence(s)
      AK030397, AK147224, CD773967
      Consensus CDS
      CCDS24573.1
      UniProtKB/Swiss-Prot
      Q3UH21, Q3UHS8, Q5SQX6, Q8BSW0, Q8CHA9, Q924D3, Q9R181
      Related
      ENSMUSP00000090853.6, ENSMUST00000093165.12
      Conserved Domains (2) summary
      pfam05994
      Location:3881221
      FragX_IP; Cytoplasmic Fragile-X interacting family
      pfam07159
      Location:65267
      DUF1394; Protein of unknown function (DUF1394)
    2. NM_001252460.1NP_001239389.1  cytoplasmic FMR1-interacting protein 2

      See identical proteins and their annotated locations for NP_001239389.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) has an additional segment in the 5' UTR, compared to variant 1. Variants 1-3 encode the same protein.
      Source sequence(s)
      AK147586, AK147632, BC056974, CD773967, CJ106488, CJ115523
      Consensus CDS
      CCDS24573.1
      UniProtKB/Swiss-Prot
      Q3UH21, Q3UHS8, Q5SQX6, Q8BSW0, Q8CHA9, Q924D3, Q9R181
      Related
      ENSMUSP00000127586.3, ENSMUST00000165599.9
      Conserved Domains (2) summary
      pfam05994
      Location:3881221
      FragX_IP; Cytoplasmic Fragile-X interacting family
      pfam07159
      Location:65267
      DUF1394; Protein of unknown function (DUF1394)
    3. NM_133769.3NP_598530.2  cytoplasmic FMR1-interacting protein 2

      See identical proteins and their annotated locations for NP_598530.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) is the predominant transcript. Variants 1-3 encode the same protein.
      Source sequence(s)
      AK147586, CD773967, CJ115523
      Consensus CDS
      CCDS24573.1
      UniProtKB/Swiss-Prot
      Q3UH21, Q3UHS8, Q5SQX6, Q8BSW0, Q8CHA9, Q924D3, Q9R181
      Related
      ENSMUSP00000090854.5, ENSMUST00000093166.11
      Conserved Domains (2) summary
      pfam05994
      Location:3881221
      FragX_IP; Cytoplasmic Fragile-X interacting family
      pfam07159
      Location:65267
      DUF1394; Protein of unknown function (DUF1394)

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000077.7 Reference GRCm39 C57BL/6J

      Range
      46084676..46203686 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006534463.4XP_006534526.1  cytoplasmic FMR1-interacting protein 2 isoform X1

      See identical proteins and their annotated locations for XP_006534526.1

      Conserved Domains (2) summary
      pfam05994
      Location:3881246
      FragX_IP; Cytoplasmic Fragile-X interacting family
      pfam07159
      Location:65267
      DUF1394; Protein of unknown function (DUF1394)
    2. XM_006534461.5XP_006534524.1  cytoplasmic FMR1-interacting protein 2 isoform X1

      See identical proteins and their annotated locations for XP_006534524.1

      Conserved Domains (2) summary
      pfam05994
      Location:3881246
      FragX_IP; Cytoplasmic Fragile-X interacting family
      pfam07159
      Location:65267
      DUF1394; Protein of unknown function (DUF1394)
    3. XM_006534462.5XP_006534525.1  cytoplasmic FMR1-interacting protein 2 isoform X1

      See identical proteins and their annotated locations for XP_006534525.1

      Conserved Domains (2) summary
      pfam05994
      Location:3881246
      FragX_IP; Cytoplasmic Fragile-X interacting family
      pfam07159
      Location:65267
      DUF1394; Protein of unknown function (DUF1394)
    4. XM_036157084.1XP_036012977.1  cytoplasmic FMR1-interacting protein 2 isoform X1

      Conserved Domains (2) summary
      pfam05994
      Location:3881246
      FragX_IP; Cytoplasmic Fragile-X interacting family
      pfam07159
      Location:65267
      DUF1394; Protein of unknown function (DUF1394)
    5. XM_036157085.1XP_036012978.1  cytoplasmic FMR1-interacting protein 2 isoform X2

      UniProtKB/TrEMBL
      Q6PGK0
      Conserved Domains (2) summary
      pfam05994
      Location:388917
      FragX_IP; Cytoplasmic Fragile-X interacting family
      pfam07159
      Location:65267
      DUF1394; Protein of unknown function (DUF1394)
    6. XM_036157086.1XP_036012979.1  cytoplasmic FMR1-interacting protein 2 isoform X3

      UniProtKB/TrEMBL
      Q6PGK0
      Conserved Domains (2) summary
      pfam05994
      Location:388892
      FragX_IP; Cytoplasmic Fragile-X interacting family
      pfam07159
      Location:65267
      DUF1394; Protein of unknown function (DUF1394)