Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
26999
Gene name Gene Name - the full gene name approved by the HGNC.
Cytoplasmic FMR1 interacting protein 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CYFIP2
Synonyms (NCBI Gene) Gene synonyms aliases
DEE65, EIEE65, PIR121
Disease Acronyms (UniProt) Disease acronyms from UniProt database
DEE65
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q33.3
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs971284726 G>A,C Likely-pathogenic Missense variant, synonymous variant, non coding transcript variant, coding sequence variant
rs1131692231 C>A,T Pathogenic-likely-pathogenic, likely-pathogenic Missense variant, coding sequence variant, intron variant, non coding transcript variant
rs1554108163 G>C,T Likely-pathogenic Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs1581069143 G>T Likely-pathogenic Missense variant, coding sequence variant, non coding transcript variant
rs1581069148 A>G Likely-pathogenic Missense variant, coding sequence variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT045595 hsa-miR-149-5p CLASH 23622248
MIRT042505 hsa-miR-423-3p CLASH 23622248
MIRT053358 hsa-miR-9-5p Microarray, qRT-PCR 23798388
MIRT920181 hsa-miR-374c CLIP-seq
MIRT920182 hsa-miR-655 CLIP-seq
Transcription factors
Transcription factor Regulation Reference
FOXD3 Activation 23058321
TP53 Unknown 15856024
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000340 Function RNA 7-methylguanosine cap binding IBA 21873635
GO:0000902 Process Cell morphogenesis IBA 21873635
GO:0005515 Function Protein binding IPI 11438699, 15048733, 24658146
GO:0005634 Component Nucleus IEA
GO:0005737 Component Cytoplasm IDA 11438699
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606323 13760 ENSG00000055163
Protein
UniProt ID Q96F07
Protein name Cytoplasmic FMR1-interacting protein 2 (p53-inducible protein 121)
Protein function Involved in T-cell adhesion and p53/TP53-dependent induction of apoptosis. Does not bind RNA. As component of the WAVE1 complex, required for BDNF-NTRK2 endocytic trafficking and signaling from early endosomes (By similarity). {ECO:0000250|UniPr
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07159 DUF1394 59 304 Protein of unknown function (DUF1394) Family
PF05994 FragX_IP 388 561 Cytoplasmic Fragile-X interacting family Family
PF05994 FragX_IP 577 1246 Cytoplasmic Fragile-X interacting family Family
Tissue specificity TISSUE SPECIFICITY: Expressed in T-cells. Increased expression is observed in CD4(+) T-lymphocytes from patients with multiple sclerosis (at protein level). {ECO:0000269|PubMed:15048733}.
Sequence
MTTHVTLEDALSNVDLLEELPLPDQQPCIEPPPSSIMYQANFDTNFEDRNAFVTGIARYI
EQATVHSSMNEMLEEGHEYAVMLYTWRSCSRAIPQVKCNEQPNRVEIYEKTVEVLEPEVT
KLMKFMYFQRKAIERFCSEVKRLCHAERRKDFVSEAYLLTLGKFINMFAVLDELKNMKCS
VKNDHSAYKRAAQFLRKMADPQSIQESQNLSMFLANHNRITQCLHQQLEVIPGYEELLAD
IVNICVDYYENKMYLTPSEKHMLLKVMGFGLYLMDGNVSNIYKLDAKKRINLSKIDKFFK
QLQV
VPLFGDMQIELARYIKTSAHYEENKSKWTCTQSSISPQYNICEQMVQIRDDHIRFI
SELARYSNSEVVTGSGLDSQKSDEEYRELFDLALRGLQLLSKWSAHVMEVYSWKLVHPTD
KFCNKDCPGTAEEYERATRYNYTSEEKFAFVEVIAMIKGLQVLMGRMESVFNQAIRNTIY
AALQDFAQVTLREPLRQAVRKKKNVLISVLQAIRKTICDWEGGREPPNDPCLRGEKDPKG
GFDIKVPRRAVGPSSTQACQW
SPRALFHPTGGTQGRRGCRSLLYMVRTMLESLIADKSGS
KKTLRSSLDGPIVLAIEDFHKQSFFFTHLLNISEALQQCCDLSQLWFREFFLELTMGRRI
QFPIEMSMPWILTDHILETKEPSMMEYVLYPLDLYNDSAYYALTKFKKQFLYDEIEAEVN
LCFDQFVYKLADQIFAYYKAMAGSVLLDKRFRAECKNYGVIIPYPPSNRYETLLKQRHVQ
LLGRSIDLNRLITQRISAAMYKSLDQAISRFESEDLTSIVELEWLLEINRLTHRLLCKHM
TLDSFDAMFREANHNVSAPYGRITLHVFWELNFDFLPNYCYNGSTNRFVRTAIPFTQEPQ
RDKPANVQPYYLYGSKPLNIAYSHIYSSYRNFVGPPHFKTICRLLGYQGIAVVMEELLKI
VKSLLQGTILQYVKTLIEVMPKICRLPRHEYGSPGILEFFHHQLKDIIEYAELKTDVFQS
LREVGNAILFCLLIEQALSQEEVCDLLHAAPFQNILPRVYIKEGERLEVRMKRLEAKYAP
LHLVPLIERLGTPQQIAIAREGDLLTKERLCCGLSMFEVILTRIRSYLQDPIWRGPPPTN
GVMHVDECVEFHRLWSAMQFVYCIPVGTNEFTAEQCFGDGLNWAGCSIIVLLGQQRRFDL
FDFCYHLLKVQRQDGKDEIIKNVPLKKMADRIRKYQILNNEVFAIL
NKYMKSVETDSSTV
EHVRCFQPPIHQSLATTC
Sequence length 1278
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Regulation of actin cytoskeleton
Pathogenic Escherichia coli infection
Salmonella infection
  Regulation of actin dynamics for phagocytic cup formation
VEGFA-VEGFR2 Pathway
RHO GTPases Activate WASPs and WAVEs
FCGR3A-mediated phagocytosis
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Attention deficit hyperactivity disorder Attention deficit hyperactivity disorder rs786205019
Autism Autistic Disorder rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699
View all (8 more)
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Developmental regression Developmental regression rs1224421127
Unknown
Disease term Disease name Evidence References Source
Otitis media Chronic otitis media ClinVar
Ptosis Blepharoptosis, Ptosis ClinVar
Asthma Asthma GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 37735711
Amyotrophic Lateral Sclerosis Associate 22430187
Asthma Associate 19910030, 19951440
Autistic Disorder Associate 30664714
Brain Diseases Associate 30664714, 35955843, 37975178
Carcinoma Basal Cell Associate 32382535
Colorectal Neoplasms Associate 21252116
Communication Disorders Associate 37975178
Congenital Abnormalities Associate 37975178
Coronary Artery Disease Associate 26619243