1. Gene
  2. WIPI2 - WD repeat domain, phosphoinositide interacting 2 Gene

WIPI2 - WD repeat domain, phosphoinositide interacting 2 Gene

中文名称:WD 重复结构域,磷酸肌醇相互作用 2

种属: Homo sapiens

同用名: Atg21; ATG18B; CGI-50; IDDSSA; WIPI-2

基因 ID: 26100 | 基因类型: protein coding

关于 WIPI2

Cytogenetic location: 7p22.1 Genomic coordinates (GRCh38): 7:5,190,233-5,233,855 (from NCBI)

This gene has 14 transcripts (splice variants), 223 orthologues, 3 paralogues and is associated with 1 phenotype. Ubiquitous expression in testis (RPKM 20.8), brain (RPKM 12.7) and 25 other tissues.

功能概要

WD40 重复蛋白是许多基本生物学功能的关键组成部分。他们通过提供用于同步和可逆蛋白质-蛋白质相互作用的 β-螺旋桨平台来调节多蛋白复合物的组装。 WD40 重复蛋白的 WIPI 亚家族成员,例如 WIPI2,具有 7 叶螺旋桨结构,并包含与磷脂相互作用的保守基序 (Proikas-Cezanne 等人,2004 [PubMed 15602573]) 。[OMIM 提供, 2008 年 3 月]

WD40 repeat proteins are key components of many essential biologic functions. They regulate the assembly of multiprotein complexes by presenting a beta-propeller platform for simultaneous and reversible protein-protein interactions. Members of the WIPI subfamily of WD40 repeat proteins, such as WIPI2, have a 7-bladed propeller structure and contain a conserved motif for interaction with Phospholipids (Proikas-Cezanne et al., 2004 [PubMed 15602573]).[supplied by OMIM, Mar 2008]

WIPI2 基因产物(6)

mRNA Protein Name
NM_001033518.2 NP_001028690.1 WD repeat domain phosphoinositide-interacting protein 2 isoform c
NM_001033519.2 NP_001028691.1 WD repeat domain phosphoinositide-interacting protein 2 isoform d
NM_001033520.1 NP_001028692.1 WD repeat domain phosphoinositide-interacting protein 2 isoform e
NM_001278299.2 NP_001265228.1 WD repeat domain phosphoinositide-interacting protein 2 isoform f
NM_015610.4 NP_056425.1 WD repeat domain phosphoinositide-interacting protein 2 isoform a
NM_016003.4 NP_057087.2 WD repeat domain phosphoinositide-interacting protein 2 isoform b
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 phosphatidylinositol-3,5-bisphosphate binding IDA
IDA: 通过直接分析推断
20505359 GOA
enables phosphatidylinositol-3-phosphate binding IDA
IDA: 通过直接分析推断
20505359 GOA
enables phosphatidylinositol-5-phosphate binding IDA
IDA: 通过直接分析推断
25578879 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
21044950 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in autophagosome assembly IDA
IDA: 通过直接分析推断
28890335 GOA
involved in autophagosome assembly IMP
IMP: 通过突变表型推断
20505359 GOA
NOT involved in autophagosome maturation IMP
IMP: 通过突变表型推断
20505359 GOA
involved in cellular response to starvation IDA
IDA: 通过直接分析推断
28561066 GOA
involved in protein localization to phagophore assembly site IMP
IMP: 通过突变表型推断
28561066 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
NOT colocalizes with autophagosome IDA
IDA: 通过直接分析推断
20505359 GOA
located in cytosol IDA
IDA: 通过直接分析推断
20505359 GOA
colocalizes with membrane IDA
IDA: 通过直接分析推断
25578879 GOA
located in phagophore assembly site IDA
IDA: 通过直接分析推断
22456507 GOA
located in phagophore assembly site membrane IDA
IDA: 通过直接分析推断
20505359 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

WIPI2 蛋白结构

WD40

WD40: WD domain, G-beta repeat (199 - 226)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 454 a.a.
蛋白主名 其他名称

WD repeat domain phosphoinositide-interacting protein 2

WD40 repeat protein interacting with phosphoinositides 2

WIPI2 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
WIPI2 Q9Y4P8 ARL6IP1 Homo sapiens Q15041
Y2H Prey Pooling
25416956
种属内
WIPI2 Q9Y4P8 ARL6IP1 Homo sapiens Q15041
Y2H Array
25416956
种属内
WIPI2 Q9Y4P8 ARL6IP1 Homo sapiens Q15041
Validated Y2H
25416956
种属内
WIPI2 Q9Y4P8 POT1 Homo sapiens Q9NUX5
Pull Down
21044950
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
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies

IDDSSA

Neurodegeneration With Brain Iron Accumulation

Nbia

Neurodegeneration With Brain Iron Accumulation Disorders

Neurodegeneration, With Brain Iron Accumulation

Neurodegeneration With Brain Iron Accumulation 5

NBIA5

Beta-Propeller Protein-Associated Neurodegeneration

Bpan

Static Encephalopathy Of Childhood With Neurodegeneration In Adulthood

Senda

Neurodegeneration With Brain Iron Accumulation Type 5

Neurodegeneration With Brain Iron Accululation 5

Static Encephalopathy Of Childhood With Neurdegeneration In Adulthood

Neurodegeneration, With Brain Iron Accululation, Type 5

Intracranial Arteriosclerosis
Fanconi Anemia, Complementation Group A

Fanconi Anemia

Fanconi Pancytopenia

Fanconi Anemia Complementation Group A

FANCA

Fa

Fanconi Panmyelopathy

Fanconi'S Anemia

Fanconi Anaemia

Fanconi'S Anaemia

Fanconi Hypoplastic Anemia

Estren-Dameshek Variant Of Fanconi Anemia

Estren-Dameshek Variant Of Fanconi Pancytopenia

Fanconi Anemia Estren-Dameshek Variant

Fanconis Anemia

Parkinson Disease, Late-Onset

Parkinson Disease

Parkinson'S Disease

PD

PARK

Parkinson Disease, Susceptibility To

Late Onset Parkinson'S Disease

Late Onset Parkinson Disease

Paralysis Agitans

Primary Parkinsonism

Idiopathic Parkinson Disease

Parkinson'S

Parkinson Disease, Late-Onset, Susceptibility To

Parkinson Disease, Age Of Onset, Modifier

Lewy Body Parkinson Disease

Idiopathic Parkinson'S Disease

Pd - [Parkinson Disease]

Parkinson Disease Nos

Parkinson, Nos

Primary Parkinson Disease

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
Bos taurus WIPI2 VGNC VGNC:36943
Rattus norvegicus WIPI2 RGD RGD:1359154
Felis catus WIPI2 VGNC VGNC:67075
Macaca mulatta WIPI2 VGNC VGNC:79918
Mus musculus WIPI2 MGD MGI:1923831
Canis familiaris WIPI2 VGNC VGNC:48413