1. Gene
  2. BAIAP2 - BAR/IMD domain containing adaptor protein 2 Gene

BAIAP2 - BAR/IMD domain containing adaptor protein 2 Gene

中文名称:含 BAR/IMD 结构域的衔接蛋白 2

种属: Homo sapiens

同用名: BAP2; WAML; FLAF3; IRSP53

基因 ID: 10458 | 基因类型: protein coding

关于 BAIAP2

Cytogenetic location: 17q25.3 Genomic coordinates (GRCh38): 17:81,035,151-81,117,434 (from NCBI)

This gene has 30 transcripts (splice variants), 282 orthologues and 2 paralogues. Broad expression in brain (RPKM 10.7), skin (RPKM 9.8) and 23 other tissues.

功能概要

由该基因编码的蛋白质已被鉴定为脑特异性血管生成抑制剂 (BAI1) 结合蛋白。这种衔接蛋白将膜结合 G 蛋白连接到细胞质效应蛋白。这种蛋白质作为胰岛素受体酪氨酸激酶底物发挥作用,表明胰岛素在中枢神经系统中发挥作用。它还与 Rho 小 G 蛋白的下游效应子有关,后者与应激纤维的形成和胞质分裂有关。这种蛋白质参与运动细胞中的片状伪足和丝状伪足的形成,并可能影响神经元生长锥的引导。这种蛋白质也被确定为与 dentatorubral-pallidoluysian 萎缩基因相互作用,该基因与常染色体显性神经退行性疾病有关。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供,2009 年 1 月]

The protein encoded by this gene has been identified as a brain-specific angiogenesis inhibitor (BAI1)-binding protein. This adaptor protein links membrane bound G-proteins to cytoplasmic effector proteins. This protein functions as an Insulin Receptor tyrosine kinase substrate and suggests a role for Insulin in the central nervous system. It also associates with a downstream effector of Rho small G proteins, which is associated with the formation of stress fibers and cytokinesis. This protein is involved in lamellipodia and filopodia formation in motile cells and may affect neuronal growth-cone guidance. This protein has also been identified as interacting with the dentatorubral-pallidoluysian atrophy gene, which is associated with an autosomal dominant neurodegenerative disease. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Jan 2009]

BAIAP2 基因产物(35)

mRNA Protein Name
NM_001144888.2 NP_001138360.1 brain-specific angiogenesis inhibitor 1-associated protein 2 isoform 4
NM_001385127.1 NP_001372056.1 brain-specific angiogenesis inhibitor 1-associated protein 2 isoform 2
NM_001385128.1 NP_001372057.1 brain-specific angiogenesis inhibitor 1-associated protein 2 isoform 3
NM_001385129.1 NP_001372058.1 brain-specific angiogenesis inhibitor 1-associated protein 2 isoform 5
NM_001385130.1 NP_001372059.1 brain-specific angiogenesis inhibitor 1-associated protein 2 isoform 6
NM_001385131.1 NP_001372060.1 brain-specific angiogenesis inhibitor 1-associated protein 2 isoform 7
NM_001385132.1 NP_001372061.1 brain-specific angiogenesis inhibitor 1-associated protein 2 isoform 8
NM_001385133.1 NP_001372062.1 brain-specific angiogenesis inhibitor 1-associated protein 2 isoform 9
NM_001385134.1 NP_001372063.1 brain-specific angiogenesis inhibitor 1-associated protein 2 isoform 10
NM_001385135.1 NP_001372064.1 brain-specific angiogenesis inhibitor 1-associated protein 2 isoform 11
NM_001385136.1 NP_001372065.1 brain-specific angiogenesis inhibitor 1-associated protein 2 isoform 12
NM_001385137.1 NP_001372066.1 brain-specific angiogenesis inhibitor 1-associated protein 2 isoform 13
NM_001385138.1 NP_001372067.1 brain-specific angiogenesis inhibitor 1-associated protein 2 isoform 14
NM_001385139.1 NP_001372068.1 brain-specific angiogenesis inhibitor 1-associated protein 2 isoform 15
NM_001385140.1 NP_001372069.1 brain-specific angiogenesis inhibitor 1-associated protein 2 isoform 16
NM_001385141.1 NP_001372070.1 brain-specific angiogenesis inhibitor 1-associated protein 2 isoform 17
NM_001385144.1 NP_001372073.1 brain-specific angiogenesis inhibitor 1-associated protein 2 isoform 18
NM_001385145.1 NP_001372074.1 brain-specific angiogenesis inhibitor 1-associated protein 2 isoform 19
NM_001385146.1 NP_001372075.1 brain-specific angiogenesis inhibitor 1-associated protein 2 isoform 19
NM_001385147.1 NP_001372076.1 brain-specific angiogenesis inhibitor 1-associated protein 2 isoform 20
NM_001385148.1 NP_001372077.1 brain-specific angiogenesis inhibitor 1-associated protein 2 isoform 21
NM_001385149.1 NP_001372078.1 brain-specific angiogenesis inhibitor 1-associated protein 2 isoform 21
NM_001385150.1 NP_001372079.1 brain-specific angiogenesis inhibitor 1-associated protein 2 isoform 22
NM_001385151.1 NP_001372080.1 brain-specific angiogenesis inhibitor 1-associated protein 2 isoform 23
NM_001385152.1 NP_001372081.1 brain-specific angiogenesis inhibitor 1-associated protein 2 isoform 24
NM_001385153.1 NP_001372082.1 brain-specific angiogenesis inhibitor 1-associated protein 2 isoform 24
NM_001385154.1 NP_001372083.1 brain-specific angiogenesis inhibitor 1-associated protein 2 isoform 25
NM_001385155.1 NP_001372084.1 brain-specific angiogenesis inhibitor 1-associated protein 2 isoform 25
NM_001385156.1 NP_001372085.1 brain-specific angiogenesis inhibitor 1-associated protein 2 isoform 25
NM_001385157.1 NP_001372086.1 brain-specific angiogenesis inhibitor 1-associated protein 2 isoform 26
NM_001385158.1 NP_001372087.1 brain-specific angiogenesis inhibitor 1-associated protein 2 isoform 27
NM_001385159.1 NP_001372088.1 brain-specific angiogenesis inhibitor 1-associated protein 2 isoform 27
NM_006340.3 NP_006331.1 brain-specific angiogenesis inhibitor 1-associated protein 2 isoform 3
NM_017450.3 NP_059344.1 brain-specific angiogenesis inhibitor 1-associated protein 2 isoform 1
NM_017451.3 NP_059345.1 brain-specific angiogenesis inhibitor 1-associated protein 2 isoform 2
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 identical protein binding IPI
IPI: 通过物理相互作用推断
11696321 GOA
enables proline-rich region binding IDA
IDA: 通过直接分析推断
19366662 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
11130076 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in regulation of actin cytoskeleton organization IMP
IMP: 通过突变表型推断
19366662 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
colocalizes with actin cytoskeleton IDA
IDA: 通过直接分析推断
19366662 GOA
located in cytosol IDA
IDA: 通过直接分析推断
19366662 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

BAIAP2 蛋白结构

IMD

IMD: IRSp53/MIM homology domain (17 - 237)

SH3_9

SH3_9: Variant SH3 domain (381 - 432)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 552 a.a.
蛋白主名 其他名称

brain-specific angiogenesis inhibitor 1-associated protein 2

BAI1 associated protein 2

BAIAP2 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
BAIAP2 Q9UQB8 WASF1 Homo sapiens Q92558 33961781
种属内
BAIAP2 Q9UQB8 WASF1 Homo sapiens Q92558 35271311
种属内
BAIAP2 Q9UQB8 BAIAP2L1 Homo sapiens Q9UHR4 26496610
种属内
BAIAP2 Q9UQB8 BAIAP2L1 Homo sapiens Q9UHR4 35271311
种属内
BAIAP2 Q9UQB8 BAIAP2L1 Homo sapiens Q9UHR4 33961781
种属内
BAIAP2 Q9UQB8 KANK1 Homo sapiens Q14678 19171758
种属内
BAIAP2 Q9UQB8 KANK1 Homo sapiens Q14678
Y2H
19171758
种属内
BAIAP2 Q9UQB8 KANK1 Homo sapiens Q14678 19171758
种属内
BAIAP2 Q9UQB8 CDC42 Homo sapiens P60953-2 11157984
种属内
BAIAP2 Q9UQB8 CDC42 Homo sapiens P60953-2
Y2H
11157984
种属内
BAIAP2 Q9UQB8 YWHAZ Homo sapiens P63104 35271311
种属内
BAIAP2 Q9UQB8 YWHAZ Homo sapiens P63104 33961781
种属内
BAIAP2 Q9UQB8 ACTB Homo sapiens P60709 19171758
种属内
BAIAP2 Q9UQB8 YWHAE Homo sapiens P62258 36931259
种属内
BAIAP2 Q9UQB8 YWHAE Homo sapiens P62258 35271311
种属内
BAIAP2 Q9UQB8 ABI1 Homo sapiens Q8IZP0 15289329
种属内
BAIAP2 Q9UQB8 ABI1 Homo sapiens Q8IZP0 35271311
种属内
BAIAP2 Q9UQB8 ABI1 Homo sapiens Q8IZP0 33961781
种属内
BAIAP2 Q9UQB8 EPS8 Homo sapiens Q12929 15289329
种属内
BAIAP2 Q9UQB8 EPS8 Homo sapiens Q12929 33961781
种属内
BAIAP2 Q9UQB8 EPS8 Homo sapiens Q12929 25814554
种属间
BAIAP2 Q9UQB8 Eps8 Mus musculus Q08509 15289329
种属间
BAIAP2 Q9UQB8 Eps8 Mus musculus Q08509 15289329
种属内
BAIAP2 Q9UQB8 RAC1 Homo sapiens P63000
Y2H
11696321
种属内
BAIAP2 Q9UQB8 RAC1 Homo sapiens P63000 19171758
种属内
BAIAP2 Q9UQB8 YWHAG Homo sapiens P61981 35271311
种属内
BAIAP2 Q9UQB8 YWHAH Homo sapiens Q04917 35271311
种属内
BAIAP2 Q9UQB8 YWHAG Homo sapiens P61981 15324660
种属内
BAIAP2 Q9UQB8 YWHAH Homo sapiens Q04917 33961781
种属间
BAIAP2 Q9UQB8 Enah Mus musculus Q03173 11696321
种属间
BAIAP2 Q9UQB8 Enah Mus musculus Q03173 11696321
种属间
BAIAP2 Q9UQB8 Enah Mus musculus Q03173 11696321
种属间
BAIAP2 Q9UQB8 tir Escherichia coli O157:H7 Q7DB77
Y2H
25519916
种属内
BAIAP2 Q9UQB8 PRR13 Homo sapiens Q9NZ81 25416956
种属内
BAIAP2 Q9UQB8 C19orf25 Homo sapiens Q9UFG5 25416956
种属内
BAIAP2 Q9UQB8 C19orf25 Homo sapiens Q9UFG5 25416956
种属内
BAIAP2 Q9UQB8 NCKIPSD Homo sapiens Q9NZQ3 16189514
种属内
BAIAP2 Q9UQB8 CDC42 Homo sapiens P60953 20936779
种属间
BAIAP2 Q9UQB8 Cdc42 Rattus norvegicus Q8CFN2 18448434
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
Dentatorubral-Pallidoluysian Atrophy

DRPLA

Naito-Oyanagi Disease

Haw River Syndrome

Myoclonic Epilepsy With Choreoathetosis

Nod

Ataxia, Chorea, Seizures, And Dementia

Dentatorubropallidoluysian Atrophy

Hrs

Naito Oyanagi Disease

Dentatorubral Pallidoluysian Atrophy

Dentatorubro-Pallidoluysian Atrophy

Myoclonic Epilepsies, Progressive

Atrophy, Pallidoluysian, Dentatorubral

Wiskott-Aldrich Syndrome

WAS

Eczema-Thrombocytopenia-Immunodeficiency Syndrome

Immunodeficiency 2

Aldrich Syndrome

Imd2

Wiskott-Aldrich Syndrome 1

Was1

Wiskott Syndrome

Wiskott Aldrich Syndrome

Eczema Thrombocytopenia Immunodeficiency Syndrome

Imd 2

Noonan Syndrome 1

Noonan Syndrome

NS1

Male Turner Syndrome

Female Pseudo-Turner Syndrome

Turner Phenotype With Normal Karyotype

Noonan Syndrome With Pigmented Villonodular Synovitis

Turner'S Phenotype, Karyotype Normal

Familial Turner Syndrome

Noonan'S Syndrome

Noonan-Ehmke Syndrome

Ns

Pseudo-Ullrich-Turner Syndrome

Turner Syndrome In Female With X Chromosome

Turner-Like Syndrome

Ullrich-Noonan Syndrome

Noonan-Like/Multiple Giant Cell Lesion Syndrome

Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions

Pterygium Colli Syndrome

Noonan Syndrome, Type 1

Turner Syndrome, Male

Attention Deficit-Hyperactivity Disorder

Attention Deficit Hyperactivity Disorder

ADHD

Attention Deficit Disorder

Attention Deficit-Hyperactivity Disorder, Susceptibility To

Attention Deficit Disorder With Hyperactivity

Hyperkinetic Disorder

Hyperactivity Of Childhood

Attention-Deficit/Hyperactivity Disorder

Add

Addh

Attention Deficit

Attention Deficit Disorder Of Childhood With Hyperactivity

Attention Deficit Disorder With Hyperactivity Syndrome

Hyperkinetic Syndrome

Attention-Deficit Hyperactivity Disorder

Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type

Disturbance Of Activity And Attention

Disorder Of Activity And Attention

Adhd - [Attention Deficit Hyperactivity Disorder]

Hyperkinetic Disorders

Disorder Of Activity And Attention With Hyperkinesia

Attention Deficit Syndrome With Hyperactivity

Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability

Non-Specific X-Linked Mental Retardation

X-Linked Non-Specific Intellectual Disability

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
Mus musculus BAIAP2 MGD MGI:2137336
Macaca mulatta BAIAP2 VGNC VGNC:70222
Canis familiaris BAIAP2 VGNC VGNC:38371
Felis catus BAIAP2 VGNC VGNC:69085
Rattus norvegicus BAIAP2 RGD RGD:619814
Bos taurus BAIAP2 VGNC VGNC:26412