CYFIP2 - cytoplasmic FMR1 interacting protein 2 Gene

Also Known as DEE65; EIEE65; PIR121

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 26999

About CYFIP2

Cytogenetic location: 5q33.3 Genomic coordinates (GRCh38): 5:157,266,123-157,395,594 (from NCBI)

This gene has 25 transcripts (splice variants), 224 orthologues, 1 paralogue and is associated with 3 phenotypes. Broad expression in kidney (RPKM 63.0), brain (RPKM 45.0) and 14 other tissues.

Summary

Predicted to enable small GTPase binding activity. Involved in activation of cysteine-type endopeptidase activity; apoptotic process; and cell-cell adhesion. Located in perinuclear region of cytoplasm and synapse. Part of SCAR complex. Implicated in developmental and epileptic encephalopathy 65. [provided by Alliance of Genome Resources, Apr 2022]

CYFIP2 Products (4)

mRNA Protein Name
NM_001037333.3 NP_001032410.1 cytoplasmic FMR1-interacting protein 2 isoform a
NM_001291721.2 NP_001278650.1 cytoplasmic FMR1-interacting protein 2 isoform b
NM_001291722.2 NP_001278651.1 cytoplasmic FMR1-interacting protein 2 isoform c
NM_014376.4 NP_055191.2 cytoplasmic FMR1-interacting protein 2 isoform a

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
11438699 GOA
Biological Process GO Annotation Evidence References Source
involved in activation of cysteine-type endopeptidase activity IDA
IDA: Inferred from direct assay
18387192 GOA
involved in apoptotic process IDA
IDA: Inferred from direct assay
10449408 GOA
involved in cell-cell adhesion IDA
IDA: Inferred from direct assay
15048733 GOA
involved in positive regulation of proteolysis IDA
IDA: Inferred from direct assay
18387192 GOA
involved in regulation of postsynapse assembly IDA
IDA: Inferred from direct assay
28692454 GOA
involved in regulation of postsynapse assembly IMP
IMP: Inferred from mutant phenotype
28692454 GOA
Cellular Component GO Annotation Evidence References Source
part of SCAR complex IDA
IDA: Inferred from direct assay
17101133 GOA
located in cytoplasm IDA
IDA: Inferred from direct assay
11438699 GOA
located in perinuclear region of cytoplasm IDA
IDA: Inferred from direct assay
10449408 GOA
located in synapse IDA
IDA: Inferred from direct assay
11438699 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CYFIP2 Protein Structure

FragX_IP

FragX_IP: Cytoplasmic Fragile-X interacting family (384 - 1248)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1200
  • 1278 a.a.
Protein Preferred Names Protein Names

cytoplasmic FMR1-interacting protein 2

  • p53-inducible protein 121

CYFIP2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
CYFIP2 Q96F07 FMR1 Homo sapiens Q06787
Pull Down
11438699
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Developmental And Epileptic Encephalopathy 65

  • DEE65

  • Epileptic Encephalopathy, Early Infantile, 65

  • Eiee65

  • Developmental And Epileptic Encephalopathy, 65

  • Early Infantile Epileptic Encephalopathy 65

  • Encephalopathy, Epileptic, Early Infantile, Type 65
Non-Specific Early-Onset Epileptic Encephalopathy

  • Undetermined Early-Onset Epileptic Encephalopathy

  • Non-Specific Eoee

  • Undetermined Eoee
Fragile X Syndrome

  • FXS

  • Martin-Bell Syndrome

  • Fraxa Syndrome

  • Marker X Syndrome

  • X-Linked Mental Retardation And Macroorchidism

  • Fragile X Mental Retardation Syndrome

  • Fra Syndrome

  • Mental Retardation, X-Linked, Associated With Marxq28

  • X-Linked Intellectual Disability And Macroorchidism

  • Frax Syndrome

  • Symptomatic Form Of Fragile X Syndrome In Female Carriers

  • Fragile-X Syndrome

  • Fraxe Syndrome
Encephalopathy

  • Brain Diseases

  • Encephalopathies

  • Toxic Encephalopathy

  • Toxic Brain Fever

  • Toxic Brain Inflammation

  • Toxic Brain Stem Inflammation

  • Toxic Cerebral Fever

  • Toxic Cerebrospinal Fever

  • Toxic Cerebrospinal Inflammation

  • Encephalopathy Nec

  • Encephalopathy Nos

  • Encephalopathy Disease

  • Encephalopathy Syndrome
Developmental And Epileptic Encephalopathy

  • Encephalopathy, Developmental And Epileptic
Intellectual Developmental Disorder, Autosomal Dominant 35

  • MRD35

  • Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome

  • Autosomal Dominant Non-Syndromic Intellectual Disability 35

  • Mental Retardation, Autosomal Dominant 35

  • Autosomal Dominant Intellectual Developmental Disorder 35

  • Autosomal Dominant Mental Retardation 35

  • Mental Retardation, Autosomal Dominant, Type 35
Multiple Sclerosis

  • MS

  • Multiple Sclerosis, Susceptibility To

  • Disseminated Sclerosis

  • Multiple Sclerosis, Disease Progression, Modifier Of

  • Insular Sclerosis

  • Multiple Sclerosis Modifier Of Disease Progression

  • Multiple Sclerosis, Susceptibility To 1

  • Multiple Sclerosis, Susceptibility To, 1

  • Multiple Sclerosis 1

  • Generalized Multiple Sclerosis

  • Multiple Sclerosis Variant

  • Multiple Sclerosis Susceptibility To

  • Cerebrospinal Sclerosis

  • Generalised Multiple Sclerosis

  • Ms - [Multiple Sclerosis]

  • Disseminated Cerebrospinal Sclerosis

  • Disseminated Multiple Sclerosis

  • Disseminated Nervous System Myelosclerosis

  • Multiple Cerebrospinal Sclerosis

  • Multiple Combined Sclerosis

  • Multiple Sclerosis Generalised

  • Disseminated Brain Sclerosis

  • Disseminated Spinal Sclerosis

  • Insular Brain Sclerosis

  • Miliary Brain Sclerosis

  • Multiple Combined Sclerosis Of Spinal Cord

  • Multiple Ascending Sclerosis

  • Multiple Brain Sclerosis

  • Multiple Sclerosis Of Brain Stem

  • Multiple Sclerosis Of The Brain Stem

  • Multiple Sclerosis Of Cord

  • Sclérose En Plaques

  • Plaque Sclerosis

  • Multiple Sclerosis Of The Spinal Cord
Autism

  • Autistic Disorder

  • Autism Susceptibility 1

  • Childhood Autism

  • Autistic Disorder Of Childhood Onset

  • Infantile Autism

  • Kanner'S Syndrome

  • Autistic
West Syndrome

  • Infantile Spasms

  • Infantile Spasms Syndrome

  • Infantile Spasm

  • X-Linked Infantile Spasm Syndrome

  • X-Linked Infantile Spasms

  • Epileptic Encephalopathy, Early Infantile, 1

  • Is

  • Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg

  • West'S Syndrome

  • Spasms, Infantile

  • Is -[Infantile Spasm]

  • Salaam Spasm

  • Salaam Tic
Early Infantile Epileptic Encephalopathy

  • Early Infantile Epileptic Encephalopathy With Burst-Suppression

  • Early Infantile Epileptic Encephalopathy With Suppression Bursts

  • Eiee

  • Early Infantile Epileptic Encephalopathy With Suppression-Bursts

  • Ohtahara Syndrome

  • Encephalopathy, Epileptic, Early Infantile
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS03431 CYFIP2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Canis familiaris CYFIP2 VGNC VGNC:49021
Felis catus CYFIP2 VGNC VGNC:61316
Rattus norvegicus CYFIP2 RGD RGD:1305048
Mus musculus CYFIP2 MGD MGI:1924134
Macaca mulatta CYFIP2 VGNC VGNC:71400
Bos taurus CYFIP2 VGNC VGNC:50267
Others CYFIP2 NCBI