Human Gene CYFIP2 (ENST00000620254.5_6) from GENCODE V47lift37
  Description: cytoplasmic FMR1 interacting protein 2, transcript variant 1 (from RefSeq NM_001037333.3)
Gencode Transcript: ENST00000620254.5_6
Gencode Gene: ENSG00000055163.21_11
Transcript (Including UTRs)
   Position: hg19 chr5:156,693,133-156,822,602 Size: 129,470 Total Exon Count: 32 Strand: +
Coding Region
   Position: hg19 chr5:156,712,372-156,820,008 Size: 107,637 Coding Exon Count: 31 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:156,693,133-156,822,602)mRNA (may differ from genome)Protein (1252 aa)
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HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CYFP2_HUMAN
DESCRIPTION: RecName: Full=Cytoplasmic FMR1-interacting protein 2; AltName: Full=p53-inducible protein 121;
FUNCTION: Involved in T-cell adhesion and p53/TP53-dependent induction of apoptosis. Does not bind RNA.
SUBUNIT: Interacts with FMR1, FXR1 AND FXR2. Component of the WAVE1 complex composed of ABI2, CYFIP2, BRK1, NCKAP1 and WASF1/WAVE1. CYFIP2 binds to activated RAC1 which causes the complex to dissociate, releasing activated WASF1. The complex can also be activated by NCK1.
INTERACTION: Q06787:FMR1; NbExp=2; IntAct=EBI-2433893, EBI-366305;
SUBCELLULAR LOCATION: Cytoplasm. Cytoplasm, perinuclear region. Cell junction, synapse, synaptosome. Note=Highly expressed in the perinuclear region. Enriched in synaptosomes. Treatment with leptomycin-B triggers translocation to the nucleus.
TISSUE SPECIFICITY: Expressed in T-cells. Increased expression is observed in CD4(+) T-lymphocytes from patients with multiple sclerosis (at protein level).
INDUCTION: By p53/TP53.
RNA EDITING: Modified_positions=320; Note=Partially edited. Editing appears to be brain-specific.
SIMILARITY: Belongs to the CYFIP family.
SEQUENCE CAUTION: Sequence=BAA86482.2; Type=Erroneous initiation; Sequence=BAD97324.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

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Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: CYFIP2
Diseases sorted by gene-association score: fragile x syndrome (3), amyotrophic lateral sclerosis 1 (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
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+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -38.3096-0.399 Picture PostScript Text
3' UTR -749.802594-0.289 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR008081 - Cytoplasmic_FMR1-int
IPR016536 - Cytoplasmic_FMR1-int_sub

Pfam Domains:
PF05994 - Cytoplasmic Fragile-X interacting family
PF07159 - CYRIA/CYRIB Rac1 binding domain

ModBase Predicted Comparative 3D Structure on Q96F07
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0006915 apoptotic process
GO:0007155 cell adhesion
GO:0031175 neuron projection development
GO:0038096 Fc-gamma receptor signaling pathway involved in phagocytosis
GO:0045862 positive regulation of proteolysis
GO:0048010 vascular endothelial growth factor receptor signaling pathway
GO:0051388 positive regulation of neurotrophin TRK receptor signaling pathway
GO:0097202 activation of cysteine-type endopeptidase activity
GO:0097484 dendrite extension
GO:0098609 cell-cell adhesion

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0016020 membrane
GO:0030054 cell junction
GO:0043005 neuron projection
GO:0045202 synapse
GO:0048471 perinuclear region of cytoplasm
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  AL136549 - Homo sapiens mRNA; cDNA DKFZp761I12121 (from clone DKFZp761I12121).
AK294220 - Homo sapiens cDNA FLJ55679 complete cds, highly similar to Mus musculus cytoplasmic FMR1 interacting protein 2 (Cyfip2), mRNA.
AK297401 - Homo sapiens cDNA FLJ53424 complete cds, highly similar to Mus musculus cytoplasmic FMR1 interacting protein 2 (Cyfip2), mRNA.
AK295865 - Homo sapiens cDNA FLJ53370 complete cds, highly similar to Mus musculus cytoplasmic FMR1 interacting protein 2 (Cyfip2), mRNA.
AK303702 - Homo sapiens cDNA FLJ55440 complete cds, highly similar to Mus musculus cytoplasmic FMR1 interacting protein 2 (Cyfip2), mRNA.
AB032994 - Homo sapiens KIAA1168 mRNA for KIAA1168 protein.
AF160973 - Homo sapiens p53 inducible protein (PIR121) mRNA, complete cds.
BC011762 - Homo sapiens cytoplasmic FMR1 interacting protein 2, mRNA (cDNA clone MGC:19527 IMAGE:3619680), complete cds.
BC021008 - Homo sapiens cytoplasmic FMR1 interacting protein 2, mRNA (cDNA clone IMAGE:2989185).
AK223604 - Homo sapiens mRNA for KIAA1168 protein (Fragment) variant, clone: FCC132C11.
AB384575 - Synthetic construct DNA, clone: pF1KA1168, Homo sapiens CYFIP2 gene for cytoplasmic FMR1-interacting protein 2, complete cds, without stop codon, in Flexi system.
AM393359 - Synthetic construct Homo sapiens clone IMAGE:100001730 for hypothetical protein (CYFIP2 gene).
AM393421 - Synthetic construct Homo sapiens clone IMAGE:100001729 for hypothetical protein (CYFIP2 gene).
DQ896615 - Synthetic construct Homo sapiens clone IMAGE:100011075; FLH195934.01L; RZPDo839H11151D cytoplasmic FMR1 interacting protein 2 (CYFIP2) gene, encodes complete protein.
DQ893528 - Synthetic construct clone IMAGE:100006158; FLH195938.01X; RZPDo839H11152D cytoplasmic FMR1 interacting protein 2 (CYFIP2) gene, encodes complete protein.
AL161999 - Homo sapiens mRNA; cDNA DKFZp761H087 (from clone DKFZp761H087); partial cds.
L47738 - Homo sapiens inducible protein mRNA, complete cds.
JD478372 - Sequence 459396 from Patent EP1572962.
JD210447 - Sequence 191471 from Patent EP1572962.
JD157991 - Sequence 139015 from Patent EP1572962.
JD393892 - Sequence 374916 from Patent EP1572962.
JD429721 - Sequence 410745 from Patent EP1572962.
JD445028 - Sequence 426052 from Patent EP1572962.
JD328454 - Sequence 309478 from Patent EP1572962.
JD334313 - Sequence 315337 from Patent EP1572962.
JD189148 - Sequence 170172 from Patent EP1572962.
JD085386 - Sequence 66410 from Patent EP1572962.
JD380387 - Sequence 361411 from Patent EP1572962.
JD039600 - Sequence 20624 from Patent EP1572962.
JD242153 - Sequence 223177 from Patent EP1572962.
JD477588 - Sequence 458612 from Patent EP1572962.
AK172724 - Homo sapiens cDNA PSEC0002 fis, clone: NT2RM1000295.
BC066933 - Homo sapiens cDNA clone IMAGE:4795858.
AF132197 - Homo sapiens PRO1331 mRNA, complete cds.
JD299522 - Sequence 280546 from Patent EP1572962.
JD240995 - Sequence 222019 from Patent EP1572962.
JD498054 - Sequence 479078 from Patent EP1572962.
JD186072 - Sequence 167096 from Patent EP1572962.
JD347596 - Sequence 328620 from Patent EP1572962.
AK312157 - Homo sapiens cDNA, FLJ92443.
JD493104 - Sequence 474128 from Patent EP1572962.
BC026892 - Homo sapiens cytoplasmic FMR1 interacting protein 2, mRNA (cDNA clone IMAGE:4939736).
JD353335 - Sequence 334359 from Patent EP1572962.
JD239172 - Sequence 220196 from Patent EP1572962.
JD214467 - Sequence 195491 from Patent EP1572962.
JD158216 - Sequence 139240 from Patent EP1572962.
JD291103 - Sequence 272127 from Patent EP1572962.
JD041157 - Sequence 22181 from Patent EP1572962.
JD524443 - Sequence 505467 from Patent EP1572962.
JD503278 - Sequence 484302 from Patent EP1572962.
JD297332 - Sequence 278356 from Patent EP1572962.
JD404366 - Sequence 385390 from Patent EP1572962.
JD262745 - Sequence 243769 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q96F07 (Reactome details) participates in the following event(s):

R-HSA-2029465 WAVE Regulatory Complex (WRC) interacts with RAC1 and PIP3 and gets activated
R-HSA-2029469 p-ERK phosphorylates WAVEs and ABI
R-HSA-2130194 ABL phosphorylates WAVEs
R-HSA-442592 WASPs or WAVEs activate the ARP2/3 complex
R-HSA-2197690 Detachment of WASP/WAVE
R-HSA-2029466 Attachment of preexisting mother filament and initiation of branching
R-HSA-2029482 Regulation of actin dynamics for phagocytic cup formation
R-HSA-4420097 VEGFA-VEGFR2 Pathway
R-HSA-5663213 RHO GTPases Activate WASPs and WAVEs
R-HSA-2029480 Fcgamma receptor (FCGR) dependent phagocytosis
R-HSA-194138 Signaling by VEGF
R-HSA-195258 RHO GTPase Effectors
R-HSA-168249 Innate Immune System
R-HSA-9006934 Signaling by Receptor Tyrosine Kinases
R-HSA-194315 Signaling by Rho GTPases
R-HSA-168256 Immune System
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: A6NLT2, CYFIP2 , CYFP2_HUMAN, D3DQJ3, ENST00000620254.1, ENST00000620254.2, ENST00000620254.3, ENST00000620254.4, KIAA1168, NM_001037333, PIR121 , Q53EN5, Q96F07, Q9NTK4, Q9ULQ2, Q9UN29, uc327sxh.1, uc327sxh.2
UCSC ID: ENST00000620254.5_6
RefSeq Accession: NM_001037333.3
Protein: Q96F07 (aka CYFP2_HUMAN)

-  Gene Model Information
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-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.