CYFIP2 (cytoplasmic FMR1 interacting protein 2)

2011-08-01  

Identity

HGNC
LOCATION
5q33.3
LOCUSID
ALIAS
DEE65,EIEE65,PIR121
FUSION GENES

Other Information

Locus ID:

NCBI: 26999
MIM: 606323
HGNC: 13760
Ensembl: ENSG00000055163

Variants:

dbSNP: 26999
ClinVar: 26999
TCGA: ENSG00000055163
COSMIC: CYFIP2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000055163ENST00000435847H7C229
ENSG00000055163ENST00000520960A0A087WZL7
ENSG00000055163ENST00000521420E7EVJ5
ENSG00000055163ENST00000522463E7EW33
ENSG00000055163ENST00000522637E5RKA3
ENSG00000055163ENST00000611075A0A087WVE1
ENSG00000055163ENST00000611925A0A087WTQ3
ENSG00000055163ENST00000616178Q96F07
ENSG00000055163ENST00000617629A0A087WWZ1
ENSG00000055163ENST00000618329Q96F07
ENSG00000055163ENST00000620254Q96F07
ENSG00000055163ENST00000621516A0A087WV63

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
Regulation of actin cytoskeletonKEGGko04810
Regulation of actin cytoskeletonKEGGhsa04810
RNA transportKEGGko03013
RNA transportKEGGhsa03013
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Fcgamma receptor (FCGR) dependent phagocytosisREACTOMER-HSA-2029480
Regulation of actin dynamics for phagocytic cup formationREACTOMER-HSA-2029482
Signal TransductionREACTOMER-HSA-162582
Signaling by VEGFREACTOMER-HSA-194138
VEGFA-VEGFR2 PathwayREACTOMER-HSA-4420097
Signaling by Rho GTPasesREACTOMER-HSA-194315
RHO GTPase EffectorsREACTOMER-HSA-195258
RHO GTPases Activate WASPs and WAVEsREACTOMER-HSA-5663213

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
222687882012Altered mTOR signaling and enhanced CYFIP2 expression levels in subjects with fragile X syndrome.69
199100302010Evaluation of candidate genes in a genome-wide association study of childhood asthma in Mexicans.41
192476922009Analyses of associations with asthma in four asthma population samples from Canada and Australia.39
212521162011IMP-1 displays cross-talk with K-Ras and modulates colon cancer cell survival through the novel proapoptotic protein CYFIP2.36
202288102010Protein complexes containing CYFIP/Sra/PIR121 coordinate Arf1 and Rac1 signalling during clathrin-AP-1-coated carrier biogenesis at the TGN.32
172451182007CYFIP2, a direct p53 target, is leptomycin-B sensitive.19
199514402009Analyses of associations between three positionally cloned asthma candidate genes and asthma or asthma-related phenotypes in a Chinese population.10
295342972018De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathy.9
224301872012Two potential biomarkers identified in mesenchymal stem cells and leukocytes of patients with sporadic amyotrophic lateral sclerosis.7
286924542017Phosphorylation 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.5

Citation

Dessen P

CYFIP2 (cytoplasmic FMR1 interacting protein 2)

Atlas Genet Cytogenet Oncol Haematol. 2011-08-01

Online version: http://atlasgeneticsoncology.org/gene/52345/cyfip2-(cytoplasmic-fmr1-interacting-protein-2)