2. Gene
  3. ACVR2B - activin A receptor type 2B Gene

ACVR2B - activin A receptor type 2B Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：激活素 A 受体 2B 型

种属: Homo sapiens

同用名: HTX4; ACTRIIB; ActR-IIB

基因 ID: 93 | 基因类型: protein coding

关于 ACVR2B

Cytogenetic location: 3p22.2 Genomic coordinates (GRCh38): 3:38,453,890-38,493,142 (from NCBI)

This gene has 3 transcripts (splice variants), 259 orthologues, 11 paralogues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 1.5), brain (RPKM 1.3) and 25 other tissues.

功能概要

激活素是二聚体生长和分化因子，属于结构相关信号转导蛋白的转化生长因子-β (TGF-β) 超家族。激活素通过受体丝氨酸激酶的异聚复合物发出信号，该受体丝氨酸激酶包括至少两种 I 型 (I 和 IB) 和两种 II 型 (II 和 IIB) 受体。这些受体都是跨膜蛋白，由具有富含半胱氨酸区域的配体结合细胞外结构域、跨膜结构域和具有预测的丝氨酸/苏氨酸特异性的细胞质结构域组成。 I 型受体对信号传导至关重要；和 II 型受体是结合配体和 I 型受体表达所必需的。 I 型和 II 型受体在配体结合后形成稳定的复合物，导致 I 型受体被 II 型受体磷酸化。 II 型受体被认为是组成型活性激酶。该基因编码激活素 A IIB 型受体，其对配体的亲和力比激活素 A II 型受体高 3 至 4 倍。[RefSeq 提供，2008 年 7 月]

Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I (I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. Type II receptors are considered to be constitutively active kinases. This gene encodes Activin A type IIB receptor, which displays a 3- to 4-fold higher affinity for the ligand than Activin A type II receptor. [provided by RefSeq, Jul 2008]

ACVR2B 基因产物(5)

mRNA Protein Name
XM_017007515.3 XP_016863004.1 activin receptor type-2B isoform X3
XM_017007516.2 XP_016863005.1 activin receptor type-2B isoform X4
NM_001106.4 NP_001097.2 activin receptor type-2B precursor
XM_005265583.4 XP_005265640.1 activin receptor type-2B isoform X1
XM_017007514.2 XP_016863003.1 activin receptor type-2B isoform X2
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 activin receptor activity, type II IDA
IDA: 通过直接分析推断
8395525 GOA
enables growth factor binding IPI
IPI: 通过物理相互作用推断
14517293 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
8622651 GOA
enables protein serine/threonine kinase activity EXP
EXP: 通过实验结果推断
8622651 GOA
enables protein serine/threonine kinase activity IMP
IMP: 通过突变表型推断
8622651 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in BMP signaling pathway IDA
IDA: 通过直接分析推断
18436533 GOA
involved in BMP signaling pathway IMP
IMP: 通过突变表型推断
19903896 GOA
involved in activin receptor signaling pathway IMP
IMP: 通过突变表型推断
18326817 GOA
involved in anterior/posterior pattern specification IMP
IMP: 通过突变表型推断
9916847 GOA
involved in negative regulation of transcription by RNA polymerase II IGI
IGI: 通过遗传相互作用推断
18326817 GOA
involved in positive regulation of activin receptor signaling pathway IDA
IDA: 通过直接分析推断
8622651 GOA
involved in positive regulation of bone mineralization IMP
IMP: 通过突变表型推断
18436533 GOA
involved in positive regulation of osteoblast differentiation IMP
IMP: 通过突变表型推断
18436533 GOA
involved in regulation of DNA-templated transcription IDA
IDA: 通过直接分析推断
8622651 GOA
involved in signal transduction IDA
IDA: 通过直接分析推断
8622651 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
14738881 GOA
part of protein-containing complex IDA
IDA: 通过直接分析推断
24019467 GOA
part of receptor complex IPI
IPI: 通过物理相互作用推断
9872992 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

ACVR2B 蛋白结构

Activin_recp

Activin_recp: Activin types I and II receptor domain (28 - 116)

Pkinase

Pkinase: Protein kinase domain (191 - 474)

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

activin receptor type-2B

activin A receptor, type IIB

ACVR2B 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
ACVR2B Q13705 GDF11 Homo sapiens O95390
Anti Tag CoIP
33961781
种属内
ACVR2B Q13705 MSTN Homo sapiens O14793
SPR
23829672
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 ACVR2B 蛋白

目录号 产品名 蛋白编号 纯度
HY-P7456 ACVR2B Protein, Human (HEK293, His) Q13705 (S19-T134) ≥95%
HY-P72813 ACVR2B Protein, Human (HEK293, Fc) Q13705 (S19-T134) ≥95%
HY-P700557 ACVR2B Protein, Human (P. pastoris, N-His) Q13705 (S19-T137) ≥95%

关联疾病

疾病名称 别名
Myopathy

Muscular Diseases

Myopathies
Fibrodysplasia Ossificans Progressiva

Myositis Ossificans Progressiva

Progressive Myositis Ossificans

FOP

Progressive Ossifying Myositis

Myositis Ossificans

Stone Man Syndrome

Man Of Stone

Myositis Ossificans Progressive

Diffuse Progressive Ossifying Polymyositis

Fibrodysplasia Ossificans Congenita

Myositis Ossificans Progressiva, Site Unspecified

Münchmeyer Disease

Fop - [Fibrodysplasia Ossificans Progressiva]

Progressive Myositis Ossificans Calcification
Double Outlet Right Ventricle

Double Outlet Right Ventricle With Subpulmonary Ventricular Septal Defect

Taussig-Bing Syndrome

Dextrotransposition Of Aorta

Taussig-Bing Syndrome Or Defect

Dorv

Dorv With Subpulmonary Vsd

Dorv-Tga

Double Outlet Right Ventricle With Transposition Of The Great Arteries

Double Outlet Right Ventricle With Subpulmonary Interventricular Communication, Transposition Type

Taussig-Bing Heart

Taussig-Bing Malformation

Taussig-Bing Complex

Taussig-Bing Defect

Taussig-Bing

Double Outlet Right Ventricle With Remote Ventricular Septal Defect

Double Outlet Right Ventricle With Uncommitted Ventricular Septal Defect

Double Outlet Right Ventricle With Non-Committed Interventricular Communication

Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication Without Pulmonary Stenosis

Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication And Pulmonary Stenosis
Muscular Dystrophy

Muscular Dystrophies

Congenital Md

Congenital Muscular Dystrophy

Cmd

Mdc

Dystrophy, Muscular

Gower'S Muscular Dystrophy

Progressive Musclular Dystrophy

Pseudohypertrophic Atrophy

Pseudohypertrophic Muscle Paralysis

Pseudohypertrophic Muscular Atrophy

Pseudohypertrophic Muscular Dystrophy

Pseudohypertrophic Paralysis

Pseudomuscular Hypertrophy
Heterotaxy, Visceral, 4, Autosomal

Left-Right Axis Malformations

HTX4

Heterotaxy, Visceral, Autosomal, Type 4
Dextrocardia

Heart Predominantly In Right Hemithorax

Heart In Right Chest

Right-Sided Heart

Congenital Dextrocardia Of Heart

Transposition Of Heart
Right Aortic Arch
Right Atrial Isomerism

Ivemark Syndrome

Asplenia With Cardiovascular Anomalies

RAI

Asplenia Syndrome

Asplenia

Right Isomerism

Splenic Agenesis Syndrome

Bilateral Right-Sidedness Sequence

Right Sided Atrial Isomerism

Isomerism Of Right Atrial Appendage

Heterotaxy, Visceroatrial, Autosomal Recessive

Polyasplenia

Vah, Autosomal Recessive

Atrial Isomerism, Right

Congenital Absence Of Spleen

Bilateral Right-Sidedness
Kartagener Syndrome

Kartagener'S Syndrome
Primary Ciliary Dyskinesia

Immotile Cilia Syndrome

Kartagener Syndrome

Dextrocardia Bronchiectasis And Sinusitis

Pcd

Ciliary Motility Disorders

Ciliary Motility Disorder

Immotile Ciliary Syndrome

Ciliary Dyskinesia Primary

Ics

Polynesian Bronchiectasis

Dextrocardia-Bronchiectasis-Sinusitis Syndrome

Immotile Cilia Syndrome, Kartagener Type

Primary Ciliary Dyskinesia And Situs Inversus

Primary Ciliary Dyskinesia, Kartagener Type

Siewert Syndrome

Dyskinesia, Ciliary, Primary
Visceral Heterotaxy

Situs Ambiguus

Heterotaxia

Heterotaxy Syndrome

Heterotaxy

Lateralization Defect

Situs Ambiguous

Left Isomerism

Htx

Ivemark Syndrome

Right Isomerism

Situs Ambiguus Viscerum

Incomplete Situs Inversus

Partial Situs Inversus

Heterotaxy, Visceral

Asplenia Syndrome

Bilateral Left-Sidedness

Polysplenia Syndrome

Moller Syndrome
Hereditary Hemorrhagic Telangiectasia

Rendu-Osler-Weber Disease

Hht

Osler-Weber-Rendu Disease

Telangiectasia, Hereditary Hemorrhagic

Osler Hemorrhagic Telangiectasia Syndrome

Orw Disease

Osler Weber Rendu Syndrome

Osler-Rendu-Weber Disease

Osler-Weber-Rendu Syndrome

Rendu-Osler Disease

Telangiectasia Hereditary Hemorrhagic

Telangiectasia Hemorrhagic, Hereditary

Hht - [Hereditary Haemorrhagic Telangiectasia]

Osler Haemorrhagic Telangiectasia Syndrome
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

相关产品

Clinical Phase
抗体抑制剂 (1)
目录号 产品名 作用方式
纯度 Phase
HY-P99355 Bimagrumab Inhibitor 99.23% Phase 3

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta ACVR2B VGNC VGNC:69450
Canis familiaris ACVR2B VGNC VGNC:37565
Mus musculus ACVR2B MGD MGI:87912
Bos taurus ACVR2B VGNC VGNC:25596
Felis catus ACVR2B VGNC VGNC:59566
Rattus norvegicus ACVR2B RGD RGD:2028
Macaca fascicularis ACVR2B NCBI NCBI:102118668
Others ACVR2B NCBI
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