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

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. 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

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_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CYFIP2 p.Arg87Cys Causes Neurological Defects and Degradation of CYFIP2.
Title: CYFIP2 p.Arg87Cys Causes Neurological Defects and Degradation of CYFIP2.
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.
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.
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.
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.
Molecular Dissection of Neurodevelopmental Disorder-Causing Mutations in CYFIP2.
Title: Molecular Dissection of Neurodevelopmental Disorder-Causing Mutations in CYFIP2.
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.
Haploinsufficiency of Cyfip2 Causes Lithium-Responsive Prefrontal Dysfunction.
Title: Haploinsufficiency of Cyfip2 Causes Lithium-Responsive Prefrontal Dysfunction.
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.
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)

Spontaneous (1) 1 citation
Targeted (3) 1 citation
Endonuclease-mediated (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:236563

AU022376 (e-PCR)
- UniSTS:208665

AA930218 (e-PCR)
- UniSTS:160086

21STS02 (e-PCR)
- UniSTS:505745

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)

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)
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)
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

NC_000077.7 Reference GRCm39 C57BL/6J

Range

46084676..46203686 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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)
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)
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)
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)
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)
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)