1. Gene
  2. TAB2 - TGF-beta activated kinase 1 (MAP3K7) binding protein 2 Gene

TAB2 - TGF-beta activated kinase 1 (MAP3K7) binding protein 2 Gene

中文名称:TGF-β 活化激酶 1 (MAP3K7) 结合蛋白 2

种属: Homo sapiens

同用名: CHTD2; TAB-2; MAP3K7IP2

基因 ID: 23118 | 基因类型: protein coding

关于 TAB2

Cytogenetic location: 6q25.1 Genomic coordinates (GRCh38): 6:149,217,926-149,411,607 (from NCBI)

This gene has 10 transcripts (splice variants), 206 orthologues, 3 paralogues and is associated with 3 phenotypes. Ubiquitous expression in thyroid (RPKM 17.2), esophagus (RPKM 14.8) and 25 other tissues.

功能概要

该基因编码的蛋白质是 MAP3K7/TAK1 的激活剂,它是 IL-1 诱导的核因子 kappaB 和 MAPK8/JNK 激活所必需的。该蛋白与 TRAF6、MAP3K7 和 TAB1 形成激酶复合物,因此它充当连接 MAP3K7 和 TRAF6 的衔接子。该蛋白与 TAB1 和 MAP3K7 一起,还通过激活 NF-kappaB 受体激活剂 (TNFRSF11A/RANK) 参与 TNFSF11/RANK1 诱导的信号转导,这可能调节破骨细胞的发育和功能。对相关小鼠蛋白的研究表明,它可以防止化学应激源引起的肝损伤。该基因的突变会导致多种类型的先天性心脏病 2 (CHTD2) 。可变剪接导致多个转录本变体。[RefSeq 提供,2014 年 5 月]

The protein encoded by this gene is an activator of MAP3K7/TAK1, which is required for for the IL-1 induced activation of nuclear factor kappaB and MAPK8/JNK. This protein forms a kinase complex with TRAF6, MAP3K7 and TAB1, and it thus serves as an adaptor that links MAP3K7 and TRAF6. This protein, along with TAB1 and MAP3K7, also participates in the signal transduction induced by TNFSF11/RANKL through the activation of the receptor activator of NF-kappaB (TNFRSF11A/RANK), which may regulate the development and function of osteoclasts. Studies of the related mouse protein indicate that it functions to protect against liver damage caused by chemical stressors. Mutations in this gene cause congenital heart defects, multiple types, 2 (CHTD2). Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]

TAB2 基因产物(4)

mRNA Protein Name
NM_001292034.3 NP_001278963.1 TGF-beta-activated kinase 1 and MAP3K7-binding protein 2 isoform a
NM_001292035.3 NP_001278964.1 TGF-beta-activated kinase 1 and MAP3K7-binding protein 2 isoform b
NM_001369506.1 NP_001356435.1 TGF-beta-activated kinase 1 and MAP3K7-binding protein 2 isoform a
NM_015093.6 NP_055908.1 TGF-beta-activated kinase 1 and MAP3K7-binding 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 K63-linked polyubiquitin modification-dependent protein binding IDA
IDA: 通过直接分析推断
15327770 GOA
enables molecular adaptor activity IDA
IDA: 通过直接分析推断
10882101 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
11460167 GOA
enables zinc ion binding IDA
IDA: 通过直接分析推断
22158122 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in defense response to bacterium IDA
IDA: 通过直接分析推断
18079694 GOA
involved in heart development IMP
IMP: 通过突变表型推断
20493459 GOA
involved in inflammatory response IDA
IDA: 通过直接分析推断
36681779 GOA
involved in non-canonical NF-kappaB signal transduction IDA
IDA: 通过直接分析推断
33184450 GOA
involved in positive regulation of canonical NF-kappaB signal transduction IDA
IDA: 通过直接分析推断
15327770 GOA
involved in positive regulation of canonical NF-kappaB signal transduction IEP
IEP: 通过表达模式推断
12761501 GOA
involved in positive regulation of protein kinase activity IDA
IDA: 通过直接分析推断
11460167 GOA
involved in response to lipopolysaccharide IDA
IDA: 通过直接分析推断
19193853 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
is active in cytoplasm IDA
IDA: 通过直接分析推断
10882101 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

TAB2 蛋白结构

CUE

CUE: CUE domain (11 - 50)

zf-RanBP

zf-RanBP: Zn-finger in Ran binding protein and others (664 - 690)

  • 0
  • 200
  • 400
  • 600
  • 693 a.a.
蛋白主名 其他名称

TGF-beta-activated kinase 1 and MAP3K7-binding protein 2

TAK1-binding protein 2

TAB2 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
Intra TAB2 Q9NYJ8 KRT85 Homo sapiens P78386
Y2H Prey Pooling
32296183
Intra TAB2 Q9NYJ8 KRT85 Homo sapiens P78386
Y2H Array
32296183
Intra TAB2 Q9NYJ8 EMILIN1 Homo sapiens Q9Y6C2-2
Y2H Prey Pooling
32296183
Intra TAB2 Q9NYJ8 EMILIN1 Homo sapiens Q9Y6C2-2
Validated Y2H
32296183
Intra TAB2 Q9NYJ8 EMILIN1 Homo sapiens Q9Y6C2-2
Y2H Array
32296183
Intra TAB2 Q9NYJ8 CAMK2A Homo sapiens Q9UQM7
Y2H Prey Pooling
32296183
Intra TAB2 Q9NYJ8 CAMK2A Homo sapiens Q9UQM7
Validated Y2H
32296183
Intra TAB2 Q9NYJ8 CAMK2A Homo sapiens Q9UQM7
Y2H Array
32296183
Intra TAB2 Q9NYJ8 ZFP64 Homo sapiens Q9NTW7-5
Y2H Prey Pooling
32296183
Intra TAB2 Q9NYJ8 ZFP64 Homo sapiens Q9NTW7-5
Y2H Array
32296183
Intra TAB2 Q9NYJ8 VPS52 Homo sapiens Q8N1B4
Y2H Prey Pooling
32296183
Intra TAB2 Q9NYJ8 VPS52 Homo sapiens Q8N1B4
Y2H Array
32296183
Intra TAB2 Q9NYJ8 ZNF143 Homo sapiens P52747
Y2H Array
32296183
Intra TAB2 Q9NYJ8 ZNF143 Homo sapiens P52747
Y2H Prey Pooling
32296183
Intra TAB2 Q9NYJ8 TPM3 Homo sapiens P06753
Y2H Prey Pooling
32296183
Intra TAB2 Q9NYJ8 TPM3 Homo sapiens P06753
Y2H Array
32296183
Intra TAB2 Q9NYJ8 TAB1 Homo sapiens Q15750
Y2H
21988832
Intra TAB2 Q9NYJ8 TAB1 Homo sapiens Q15750
Anti Tag CoIP
21903422
Intra TAB2 Q9NYJ8 MAP3K7 Homo sapiens O43318
Anti Bait CoIP
22081109
Intra TAB2 Q9NYJ8 MAP3K7 Homo sapiens O43318
Anti Tag CoIP
21903422
Intra TAB2 Q9NYJ8 MAP3K7 Homo sapiens O43318-2
TAP
14743216
Intra TAB2 Q9NYJ8 TRAF6 Homo sapiens Q9Y4K3
Anti Bait CoIP
19675569
Intra TAB2 Q9NYJ8 GOLGA2 Homo sapiens Q08379
Y2H Array
32296183
Intra TAB2 Q9NYJ8 GOLGA2 Homo sapiens Q08379
Y2H Prey Pooling
32296183
Intra TAB2 Q9NYJ8 HSF2BP Homo sapiens O75031
Y2H Prey Pooling
32296183
Intra TAB2 Q9NYJ8 HSF2BP Homo sapiens O75031
Y2H Array
32296183
Intra TAB2 Q9NYJ8 ZBTB16 Homo sapiens Q05516
Y2H
21988832
Intra TAB2 Q9NYJ8 ZBTB16 Homo sapiens Q05516
Confocal
21988832
Intra TAB2 Q9NYJ8 ZBTB16 Homo sapiens Q05516
Anti Tag CoIP
21988832
Intra TAB2 Q9NYJ8 FOSL1 Homo sapiens P15407
Y2H Array
21988832
Intra TAB2 Q9NYJ8 FOSL1 Homo sapiens P15407
Y2H Prey Pooling
32296183
Intra TAB2 Q9NYJ8 FOSL1 Homo sapiens P15407
Y2H Array
32296183
Intra TAB2 Q9NYJ8 BECN1 Homo sapiens Q14457
Anti Tag CoIP
22081109
Intra TAB2 Q9NYJ8 BECN1 Homo sapiens Q14457
Pull Down
22081109
Intra TAB2 Q9NYJ8 BECN1 Homo sapiens Q14457
Y2H
22081109
Intra TAB2 Q9NYJ8 BECN1 Homo sapiens Q14457
Anti Bait CoIP
22081109
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
Congenital Heart Defects, Multiple Types, 2

CHTD2

Congenital Heart Defects, Nonsyndromic, 2

Congenital Heart Defects Non-Syndromic 2

Polyvalvular Heart Disease Syndrome

Phd Syndrome

Type 1 Diabetes Mellitus 5

Diabetes Mellitus, Insulin-Dependent, 5

Latent Autoimmune Diabetes In Adults

IDDM5

Insulin-Dependent Diabetes Mellitus 5

T1D5

Lada

Type 1.5 Diabetes

Diabetes Mellitus, Insulin-Dependent, Type 5

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

Pelvic Organ Prolapse

Rectal Prolapse

Pelvic Organ Prolapse, Susceptibility To, 1

Pelvic Organ Prolapse, Susceptibility To

Prolapse Of Vagina And Rectum

Vaginal Prolapse

Pelvic Organ Prolapse 1

Procidentia, Rectum

Prolapse Of Rectal Mucosa

Procidentia Of Rectum

Rectal Mucosa Prolapse

Rectum Prolapse

Procidentia Rectum

Rp - [Rectal Prolapse]

Male Proctocele

Male Rectocele

Proctoptosis

Female Genital Prolapse

Female Prolapse

Incompetence Of Pelvic Fundus

Relaxation Of Perineum

Deficiency Of Perineum

Atrial Septal Defect 2

ASD2

Atrial Heart Septal Defect 2

Atrial Septal Defect-2

Asd Ii

Septal Defect, Atrial, Type 2

Aortic Valve Disease 1

Aortic Valve Disease

Bicuspid Aortic Valve

Aortic Valve Disorder

AOVD1

Bav

Bicuspid Aortic Valve Disease

Familial Bicuspid Aortic Valve

Aortic Valve Calcification

Aovd

Aortic Valve, Bicuspid

Aortic Valve, Calcification Of

Aortic Stenosis, Calcific

Familial Bav

Calcific Aortic Stenosis

Calcification Of Aortic Valve

Abnormality Of The Aortic Valve

Aortic Valve Disease, Type 1

Aortic Valve Disease 2

Bicommissural Aortic Valve

Patent Foramen Ovale

Atrial Septal Defect Within Oval Fossa

Foramen Ovale Patent

Ostium Secundum Atrial Septal Defect

Atrial Septal Defect, Ostium Secundum Type

Foramen Ovale, Patent

Defect, Patent Or Persistent, Ostium Secundum

Ostium Secundum Type Atrial Septal Defect

Persistent Ostium Secundum

Asd Ostium Secundum Type

Ostium Secundum Asd

Osasd

Asd, Ostium Secundum Type

Pfo - [Patent Foramen Ovale]

Open Foramen Ovale

Open Oval Foramen

Persistent Foramen Ovale

Secundum Atrial Septal Defect

Migraine With Or Without Aura 1

Migraine

Migraine With Or Without Aura, Susceptibility To, 1

Migraine Disorder

Migraine Variant

Migraines

Migraine Disorders

Mgr1

Mgau

Ma

Migraine With Or Without Aura

Classic Migraine

Common Migraine

Disorder, Migraine

Headache Migraine

Headache Migrainous

Migraine Headache

Migraine Syndrome

Headache Including Migraine

Migraine, Susceptibility To

Frontometaphyseal Dysplasia

Fmd

Dysplasia, Frontometaphyseal

Heart Disease

Heart Failure

Congenital Heart Disease

Heart Diseases

Congenital Heart Defects

Congenital Heart Defect

Heart Malformation

Congenital Anomaly Of Heart

Heart Defect

Heart-Congenital Defect

Congenital Heart Disorder

Heart Defects Congenital

Heart Defects, Congenital

Heart Defects

Heart Disease, Congenital

Disease, Heart, Congenital

Congestive Heart Failure

Ectodermal Dysplasia

Congenital Ectodermal Defect

Congenital Ectodermal Dysplasia

Ectodermal Dysplasia Syndrome

Dysplasia, Ectodermal

Otopalatodigital Syndrome Spectrum Disorder

Opd Spectrum Disorder

Opsd

Fronto-Otopalatodigital Osteodysplasia

Ectodermal Dysplasia 10a, Hypohidrotic/Hair/Nail Type, Autosomal Dominant

ECTD10A

Hed

Ectodermal Dysplasia 10a

Ectodermal Dysplasia Hypohidrotic Autosomal Dominant

Autosomal Dominant Hypohidrotic Ectodermal Dysplasia

Ectodermal Dysplasia, Hypohidrotic, Autosomal Dominant

Hypohidrotic Ectodermal Dysplasia Autosomal Dominant

Ad-Hed

Autosomal Dominant Anhidrotic Ectodermal Dysplasia

Ectodermal Dysplasia 3

Ed3

Eda3

Ectodermal Dysplasia, Anhidrotic, Autosomal Dominant

Dysplasia, Ectodermal, Type 10a, Hypohidrotic/Hair/Nail, Autosomal Dominant

Dysplasia, Ectodermal, Type 3

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

Ectodermal Dysplasia 10b, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive

Hypohidrotic Ectodermal Dysplasia

Hed

Anhidrotic Ectodermal Dysplasia

Ectodermal Dysplasia, Hypohidrotic

Eda

Christ-Siemens-Touraine Syndrome

ECTD10B

Ectodermal Dysplasia Anhidrotic

Ectodermal Dysplasia, Anhidrotic

Cst Syndrome

Ectodermal Dysplasia Hypohidrotic Autosomal Recessive

Dysplasia, Ectodermal, Type 10b, Hypohidrotic/Hair/Tooth, Autosomal Recessive

Dysplasia, Ectodermal, Hypohidrotic

Ectodermal Dysplasia 11b, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive

Ectodermal Dysplasia 3, Anhidrotic

Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive

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 TAB2 VGNC VGNC:53809
Mus musculus TAB2 MGD MGI:1915902
Macaca mulatta TAB2 VGNC VGNC:83476
Canis familiaris TAB2 VGNC VGNC:53995
Felis catus TAB2 VGNC VGNC:102528
Rattus norvegicus TAB2 RGD RGD:1309527
Others TAB2 NCBI