2. Gene
  3. CYFIP2 - cytoplasmic FMR1 interacting protein 2 Gene

CYFIP2 - cytoplasmic FMR1 interacting protein 2 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as DEE65; EIEE65; PIR121

Gene ID: 26999 | Gene type: protein coding

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 Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
11438699 GOA
Biological Process GO Annotation Evidence Reference 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 Reference 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
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  • 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 Reference
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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS03431 CYFIP2 Human Pre-designed siRNA Set A Pre-designed Sets / 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