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  2. CYFIP2 - cytoplasmic FMR1 interacting protein 2 Gene

CYFIP2 - cytoplasmic FMR1 interacting protein 2 Gene

中文名称:细胞质 FMR1 相互作用蛋白 2

种属: Homo sapiens

同用名: DEE65; EIEE65; PIR121

基因 ID: 26999 | 基因类型: protein coding

关于 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.

功能概要

预测启用小 GTPase 绑定活动。参与半胱氨酸型内肽酶活性的激活;凋亡过程;和细胞间粘附。位于细胞质和突触的核周区。 SCAR 复合体的一部分。涉及发育和癫痫性脑病 65。[由基因组资源联盟提供,2022 年 4 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
11438699 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in activation of cysteine-type endopeptidase activity IDA
IDA: 通过直接分析推断
18387192 GOA
involved in apoptotic process IDA
IDA: 通过直接分析推断
10449408 GOA
involved in cell-cell adhesion IDA
IDA: 通过直接分析推断
15048733 GOA
involved in positive regulation of proteolysis IDA
IDA: 通过直接分析推断
18387192 GOA
involved in regulation of postsynapse assembly IDA
IDA: 通过直接分析推断
28692454 GOA
involved in regulation of postsynapse assembly IMP
IMP: 通过突变表型推断
28692454 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of SCAR complex IDA
IDA: 通过直接分析推断
17101133 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
11438699 GOA
located in perinuclear region of cytoplasm IDA
IDA: 通过直接分析推断
10449408 GOA
located in synapse IDA
IDA: 通过直接分析推断
11438699 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

CYFIP2 蛋白结构

FragX_IP

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

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1200
  • 1278 a.a.
蛋白主名 其他名称

cytoplasmic FMR1-interacting protein 2

p53-inducible protein 121

CYFIP2 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
CYFIP2 Q96F07 FMR1 Homo sapiens Q06787
Pull Down
11438699
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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