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

Gene ID: 76884, updated on 21-Apr-2024

Summary

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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. Located in synapse. Part of SCAR complex. Is expressed in several structures, including central nervous system; sensory organ; skeleton; trigeminal nerve; 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, Apr 2022]
Expression
Biased expression in cortex adult (RPKM 61.0), frontal lobe adult (RPKM 50.6) and 13 other tissues See more
Orthologs
human all
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Genomic context

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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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. CYFIP2 p.Arg87Cys Causes Neurological Defects and Degradation of CYFIP2. Kang M, et al. Ann Neurol, 2023 Jan. PMID 36251395
  2. Loss of cytoplasmic FMR1-interacting protein 2 (CYFIP2) induces browning in 3T3-L1 adipocytes via repression of GABA-BR and activation of mTORC1. Manigandan S, et al. J Cell Biochem, 2022 May. PMID 35233844
  3. Enhanced Prefrontal Neuronal Activity and Social Dominance Behavior in Postnatal Forebrain Excitatory Neuron-Specific Cyfip2 Knock-Out Mice. Zhang Y, et al. Front Mol Neurosci, 2020. PMID 33192297, Free PMC Article
  4. Altered presynaptic function and number of mitochondria in the medial prefrontal cortex of adult Cyfip2 heterozygous mice. Kim GH, et al. Mol Brain, 2020 Sep 11. PMID 32917241, Free PMC Article
  5. Haploinsufficiency of Cyfip2 Causes Lithium-Responsive Prefrontal Dysfunction. Lee SH, et al. Ann Neurol, 2020 Sep. PMID 32562430

See all (58) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. CYFIP2 p.Arg87Cys Causes Neurological Defects and Degradation of CYFIP2.
    Title: CYFIP2 p.Arg87Cys Causes Neurological Defects and Degradation of CYFIP2.
  2. Protein interactome and cell-type expression analyses reveal that cytoplasmic FMR1-interacting protein 1 (CYFIP1), but not CYFIP2, associates with astrocytic focal adhesion.
    Title: Protein interactome and cell-type expression analyses reveal that cytoplasmic FMR1-interacting protein 1 (CYFIP1), but not CYFIP2, associates with astrocytic focal adhesion.
  3. Loss of cytoplasmic FMR1-interacting protein 2 (CYFIP2) induces browning in 3T3-L1 adipocytes via repression of GABA-BR and activation of mTORC1.
    Title: Loss of cytoplasmic FMR1-interacting protein 2 (CYFIP2) induces browning in 3T3-L1 adipocytes via repression of GABA-BR and activation of mTORC1.
  4. Deficiency of the neurodevelopmental disorder-associated gene Cyfip2 alters the retinal ganglion cell properties and visual acuity.
    Title: Deficiency of the neurodevelopmental disorder-associated gene Cyfip2 alters the retinal ganglion cell properties and visual acuity.
  5. Altered presynaptic function and number of mitochondria in the medial prefrontal cortex of adult Cyfip2 heterozygous mice.
    Title: Altered presynaptic function and number of mitochondria in the medial prefrontal cortex of adult Cyfip2 heterozygous mice.
  6. Molecular Dissection of Neurodevelopmental Disorder-Causing Mutations in CYFIP2.
    Title: Molecular Dissection of Neurodevelopmental Disorder-Causing Mutations in CYFIP2.
  7. Epilepsy- and intellectual disability-associated CYFIP2 interacts with both actin regulators and RNA-binding proteins in the neonatal mouse forebrain.
    Title: Epilepsy- and intellectual disability-associated CYFIP2 interacts with both actin regulators and RNA-binding proteins in the neonatal mouse forebrain.
  8. Haploinsufficiency of Cyfip2 Causes Lithium-Responsive Prefrontal Dysfunction.
    Title: Haploinsufficiency of Cyfip2 Causes Lithium-Responsive Prefrontal Dysfunction.
  9. Study characterized the functional roles of the two brain-specific phosphorylation sites (S582 and T1067) of CYFIP2 in cultured hippocampal neurons; found that overexpression of the phospho-blocking T1067A mutant significantly decreased the density of stubby spines, but not other types of spines. Study found that T1067 phosphorylation of CYFIP2 could potentially weaken the interaction between CYFIP2 and Nap1.
    Title: Phosphorylation of CYFIP2, a component of the WAVE-regulatory complex, regulates dendritic spine density and neurite outgrowth in cultured hippocampal neurons potentially by affecting the complex assembly.
  10. Study identified cytoplasmic FMR1-Interacting Protein 2 (Cyfip2) as a major significant genetic factor underlying binge eating and provide a behavioral paradigm for future genome-wide association studies in populations with increased genetic complexity.
    Title: Cytoplasmic FMR1-Interacting Protein 2 Is a Major Genetic Factor Underlying Binge Eating.
Submit: New GeneRIF Correction See all GeneRIFs (11)

Variation

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Alleles

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

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 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 IBA
Inferred from Biological aspect of Ancestor
more info
  
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 axon guidance IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within cell adhesion IEA
Inferred from Electronic Annotation
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 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 ISO
Inferred from Sequence Orthology
more info
  
involved_in regulation of actin filament polymerization IEA
Inferred from Electronic Annotation
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 
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 ISO
Inferred from Sequence Orthology
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

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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_001252459.1 → NP_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:388 → 1221
    FragX_IP; Cytoplasmic Fragile-X interacting family
    pfam07159
    Location:65 → 267
    DUF1394; Protein of unknown function (DUF1394)

  2. NM_001252460.1 → NP_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:388 → 1221
    FragX_IP; Cytoplasmic Fragile-X interacting family
    pfam07159
    Location:65 → 267
    DUF1394; Protein of unknown function (DUF1394)

  3. NM_133769.3 → NP_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:388 → 1221
    FragX_IP; Cytoplasmic Fragile-X interacting family
    pfam07159
    Location:65 → 267
    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_006534463.4 → XP_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:388 → 1246
    FragX_IP; Cytoplasmic Fragile-X interacting family
    pfam07159
    Location:65 → 267
    DUF1394; Protein of unknown function (DUF1394)

  2. XM_006534461.5 → XP_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:388 → 1246
    FragX_IP; Cytoplasmic Fragile-X interacting family
    pfam07159
    Location:65 → 267
    DUF1394; Protein of unknown function (DUF1394)

  3. XM_006534462.5 → XP_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:388 → 1246
    FragX_IP; Cytoplasmic Fragile-X interacting family
    pfam07159
    Location:65 → 267
    DUF1394; Protein of unknown function (DUF1394)

  4. XM_036157084.1 → XP_036012977.1  cytoplasmic FMR1-interacting protein 2 isoform X1

    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)

  5. XM_036157085.1 → XP_036012978.1  cytoplasmic FMR1-interacting protein 2 isoform X2

    UniProtKB/TrEMBL
    Q6PGK0
    Conserved Domains (2) summary
    pfam05994
    Location:388 → 917
    FragX_IP; Cytoplasmic Fragile-X interacting family
    pfam07159
    Location:65 → 267
    DUF1394; Protein of unknown function (DUF1394)

  6. XM_036157086.1 → XP_036012979.1  cytoplasmic FMR1-interacting protein 2 isoform X3

    UniProtKB/TrEMBL
    Q6PGK0
    Conserved Domains (2) summary
    pfam05994
    Location:388 → 892
    FragX_IP; Cytoplasmic Fragile-X interacting family
    pfam07159
    Location:65 → 267
    DUF1394; Protein of unknown function (DUF1394)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5SQX6.2 GenPept UniProtKB/Swiss-Prot:Q5SQX6

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