2. Gene
  3. ACVR2A - activin A receptor type 2A Gene

ACVR2A - activin A receptor type 2A 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 2A 型

种属: Homo sapiens

同用名: ACVR2; ACTRII

基因 ID: 92 | 基因类型: protein coding

关于 ACVR2A

Cytogenetic location: 2q22.3-q23.1 Genomic coordinates (GRCh38): 2:147,844,517-147,930,822 (from NCBI)

This gene has 7 transcripts (splice variants), 275 orthologues, 11 paralogues and is associated with 81 phenotypes. Ubiquitous expression in skin (RPKM 13.5), gall bladder (RPKM 6.4) and 25 other tissues.

功能概要

该基因编码的受体介导激活素的功能，激活素是参与多种生物过程的转化生长因子-β (TGF-β) 超家族的成员。编码的蛋白质是一种跨膜丝氨酸-苏氨酸激酶受体，它通过以细胞特异性方式与 I 型和 II 型受体和配体的各种组合形成异二聚体复合物来介导信号传导。编码的 II 型受体主要参与配体结合，包括细胞外配体结合结构域、跨膜结构域和细胞质丝氨酸-苏氨酸激酶结构域。该基因可能与先兆子痫的易感性有关，先兆子痫是一种与妊娠相关的疾病，可导致母体和胎儿的发病率和死亡率。可变剪接导致该基因的多个转录变体。[RefSeq 提供，2013 年 6 月]

This gene encodes a receptor that mediates the functions of activins, which are members of the transforming growth factor-beta (TGF-beta) superfamily involved in diverse biological processes. The encoded protein is a transmembrane serine-threonine kinase receptor which mediates signaling by forming heterodimeric complexes with various combinations of type I and type II receptors and ligands in a cell-specific manner. The encoded type II receptor is primarily involved in ligand-binding and includes an extracellular ligand-binding domain, a transmembrane domain and a cytoplasmic serine-threonine kinase domain. This gene may be associated with susceptibility to preeclampsia, a pregnancy-related disease which can result in maternal and fetal morbidity and mortality. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jun 2013]

ACVR2A 基因产物(4)

mRNA Protein Name
NM_001278580.2 NP_001265509.1 activin receptor type-2A isoform 2
XM_047446292.1 XP_047302248.1 activin receptor type-2A isoform X1
NM_001616.5 NP_001607.1 activin receptor type-2A isoform 1 precursor
NM_001278579.2 NP_001265508.1 activin receptor type-2A isoform 1 precursor

ACVR2A 蛋白结构

Activin_recp

Activin_recp: Activin types I and II receptor domain (48 - 116)

Pkinase

Pkinase: Protein kinase domain (193 - 475)

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

activin receptor type-2A

activin A receptor, type IIA

重组 ACVR2A 蛋白

目录号 产品名 蛋白编号 纯度
HY-P7455 ACVR2A/Activin RIIA Protein, Human (HEK293, His, solution) P27037 (A20-P134) ≥95%
HY-P75537 ACVR2A/Activin RIIA Protein, Human (HEK293, Fc) P27037 (A20-P134) ≥95%
HY-P7455A ACVR2A/Activin RIIA Protein, Human (HEK293, C-His) P27037 (A20-P134) ≥95%

关联疾病

疾病名称 别名
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
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
Mbd5 Haploinsufficiency

2q23.1 Microdeletion Syndrome

2q23.1 Microduplication Syndrome

Del(2)(Q23.1)

Monosomy 2q23.1

Pseudo-Angelman Syndrome

Mbd5 Associated Neurodevelopmental Disorder

Chromosome 2q23.1 Microdeletion Syndrome

Mbd5-Associated Neurodevelopmental Disorder

Mand

Dup(2)(Q23.1)

Trisomy 2q23.1
Chondroma

Central Chondroma

Enchondroma
Pre-Eclampsia

Preeclampsia

Gestational Hypertension

Hypertension Induced By Pregnancy

Pre-Eclamptic Toxaemia

Pregnancy Associated Hypertension

Proteinuric Hypertension Of Pregnancy

Hypertension, Pregnancy-Induced, Susceptibility To

Preeclampsia/Eclampsia

Pregnancy Toxemia

Toxaemia Of Pregnancy

Gestational Proteinuric Hypertension

Pregnancy-Induced Hypertension

Toxemia Of Pregnancy

Preeclampsia, Susceptibility To

Transient Hypertension Of Pregnancy

Gestational [Pregnancy-Induced] Hypertension Without Significant Proteinuria

Gestational Hypertension Nos

Mild Proteinuric Hypertension Of Pregnancy

Pih - [Pregnancy-Induced Hypertension]

Pregnancy-Induced Hypertension Nos

Gestational [Pregnancy-Induced] Hypertension With Significant Proteinuria

Pe - [Pre-Eclampsia]

Pre-Eclampsia Nos

Pre-Eclamptic Nos

Pregnancy Pre-Eclampsia

Puerperal Pre-Eclampsia

Pre-Eclampsia Toxaemia

Toxaemia In Pregnancy

Pet - [Pre-Eclamptic Toxaemia]

Maternal Toxaemia
Lynch Syndrome

Hereditary Nonpolyposis Colon Cancer

Hereditary Nonpolyposis Colorectal Cancer

Hereditary Nonpolyposis Colorectal Carcinoma

Hereditary Nonpolyposis Colorectal Neoplasms

Familial Nonpolyposis Colon Cancer

Hnpcc

Coca 1

Hereditary Defective Mismatch Repair Syndrome

Hereditary Non-Polyposis Colon Cancer

Hereditary Non-Polyposis Colon Cancer Syndrome

Hereditary Non-Polyposis Colorectal Cancer

Hereditary Non-Polyposis Colorectal Cancer Syndrome

Hereditary Nonpolyposis Colon Cancer Syndrome

Hereditary Nonpolyposis Colorectal Cancer Syndrome

Hereditary Nonpolyposis Colorectal Neoplasm

Hnpcc - Hereditary Nonpolyposis Colon Cancer

Cancer Family Syndrome

Familial Nonpolyposis Colorectal Cancer

Colon Cancer, Familial Nonpolyposis

Colorectal Neoplasms, Hereditary Nonpolyposis

Cancer, Colorectal, Nonpolyposis, Hereditary

Colorectal Cancer, Hereditary Nonpolyposis, Type 1
Colorectal Cancer

Colon Cancer

Colorectal Carcinoma

Colon Carcinoma

Colorectal Cancer, Susceptibility To

Carcinoma Of Colon

CRC

Colorectal Cancer With Chromosomal Instability, Somatic

Colon Cancer, Somatic

Colon Cancer, Susceptibility To

Colonic Neoplasms

Colorectal Neoplasms

Colorectal Cancer, Somatic

Colon Cancer, Advanced, Somatic

Colonic Carcinoma

Colorectal Carcinomas

Colon Cancers

Colorectal Cancers

Cancer, Colorectal, Somatic

Cancer, Colon

Cancer, Colorectal, Susceptibility To

Colorectal Neoplasm

Colonic Neoplasm

Malignant Tumor Of Colon
Soft Tissue Chondroma

Extraskeletal Chondroma
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 (2)
目录号 产品名 作用方式
纯度 Phase
HY-P99355 Bimagrumab Inhibitor 98.56% Phase 3
HY-P99590 Sotatercept 99.61% Phase 3

直系同源

种属 基因名 来源 基因 ID
Mus musculus ACVR2A MGD MGI:102806
Felis catus ACVR2A VGNC VGNC:59565
Macaca mulatta ACVR2A VGNC VGNC:69447
Bos taurus ACVR2A VGNC VGNC:25595
Rattus norvegicus ACVR2A RGD RGD:70911
Canis familiaris ACVR2A VGNC VGNC:37564
Others ACVR2A NCBI
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