1. Gene
  2. GDF2 - growth differentiation factor 2 Gene

GDF2 - growth differentiation factor 2 Gene

中文名称:生长分化因子 2

种属: Homo sapiens

同用名: BMP9; HHT5; BMP-9

基因 ID: 2658 | 基因类型: protein coding

关于 GDF2

Cytogenetic location: 10q11.22 Genomic coordinates (GRCh38): 10:47,322,454-47,327,588 (from NCBI)

This gene has 1 transcript (splice variant), 191 orthologues, 31 paralogues and is associated with 2 phenotypes. Restricted expression toward liver (RPKM 6.7).

功能概要

该基因编码 TGF-β (转化生长因子-β) 蛋白质超家族的分泌配体。该家族的配体结合各种 TGF-β 受体,导致调节基因表达的 SMAD 家族转录因子的募集和激活。编码的前原蛋白经过蛋白水解处理,生成二硫键连接的同型二聚体的每个亚基。这种蛋白质调节软骨和骨骼发育、血管生成和胆碱能中枢神经系统神经元的分化。该基因的突变与遗传性出血性毛细血管扩张症有关。[RefSeq 提供,2016 年 7 月]

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of Smad Family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein regulates cartilage and bone development, angiogenesis and differentiation of cholinergic central nervous system neurons. Mutations in this gene are associated with hereditary hemorrhagic telangiectasia. [provided by RefSeq, Jul 2016]

GDF2 基因产物(1)

mRNA Protein Name
NM_016204.4 NP_057288.1 growth/differentiation factor 2 preproprotein

GDF2 蛋白结构

TGFb_propeptide

TGFb_propeptide: TGF-beta propeptide (56 - 257)

TGF_beta

TGF_beta: Transforming growth factor beta like domain (326 - 429)

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

growth/differentiation factor 2

bone morphogenetic protein 9

重组 GDF2 蛋白

目录号 产品名 蛋白编号 纯度
HY-P77880 BMP-9/GDF-2 Protein, Human (HEK293, Fc) Q9UK05 (S320-R429) ≥95%
HY-P700033AF Animal-Free BMP-9/GDF-2 Protein, Human (His) Q9UK05 (S320-429R) ≥95%
HY-P700530 GDF-2 Protein, Human (P. pastoris, His) Q9UK05 (H300-R429) ≥95%

关联疾病

疾病名称 别名
Telangiectasia, Hereditary Hemorrhagic, Type 5

HHT5

Telangiectasia, Hereditary Hemorrhagic, 5

Telangiectasia, Hemorrhagic, Hereditary, Type 5

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

Pulmonary Hypertension, Primary, 1

Pulmonary Arterial Hypertension

Pah

Idiopathic Pulmonary Arterial Hypertension

Idiopathic Pulmonary Hypertension

Primary Pulmonary Hypertension

PPH1

Pulmonary Hypertension, Primary, Fenfluramine Or Dexfenfluramine-Associated

Pulmonary Hypertension, Familial Primary, 1, With Or Without Hht

Pph

Familial Primary Pulmonary Hypertension

Sporadic Primary Pulmonary Hypertension

Pht

Fpah

Familial Pulmonary Arterial Hypertension

Hereditary Pulmonary Arterial Hypertension

Heritable Pulmonary Arterial Hypertension

Ayerza Syndrome

Fpph

Ppht

Ipah

Primary Pulmonary Arterial Hypertension

Pulmonary Hypertension, Familial Primary

Hypertension, Pulmonary, Primary, Type 1

Ayerza'S Syndrome

Pah - [Pulmonary Arterial Hypertension]

Arrillaga Ayerza Syndrome

Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome

Juvenile Polyposis-Hereditary Hemorrhagic Telangiectasia Syndrome

JPHT

Jp/Hht Syndrome

Juvenile Polyposis With Hereditary Hemorrhagic Telangiectasia

Jps/Hht

Telangiectasia, Hereditary Hemorrhagic, With Juvenile Polyposis Coli

Polyposis, Generalized Juvenile, With Pulmonary Arteriovenous Malformation

Jp-Hht

JP/HHT

Polyposis, Juvenile/Hereditary Hemorrhagic Telangiectasia Syndrome

Hepatopulmonary Syndrome
Pulmonary Hypertension

Primary Pulmonary Hypertension

Hypertension Pulmonary

Hypertension, Pulmonary

Hypertension, Pulmonary, Primary

Idiopathic Pulmonary Hypertension

Idiopathic Pulmonary Arterial Hypertension

Pulmonary Htn - [Hypertension]

Arteriovenous Malformation

Arteriovenous Malformations

Arteriovenous Hemangioma

Cirsoid Aneurysm

Racemose Aneurysm

Racemose Angioma

Racemose Hemangioma

Congenital Arteriovenous Malformation

Pulmonary Venoocclusive Disease

Pulmonary Veno-Occlusive Disease

Obstructive Disease Of The Pulmonary Veins

Pvod

Isolated Pulmonary Venous Sclerosis

Venous Form Of Primary Pulmonary Hypertension

Pulmonary Venoocclusive Disease 1, Autosomal Dominant

Telangiectasis

Telangiectasia

Cardiovascular Organ Benign Neoplasm
Ossification Of The Posterior Longitudinal Ligament Of Spine

OPLL

Ossification Of The Posterior Longitudinal Ligament Of The Spine

Ossification Of Posterior Longitudinal Ligament Of Spine

Ossification, Posterior Longitudinal Ligament Spine

Myostatin-Related Muscle Hypertrophy

Mslhp

Muscle Hypertrophy Syndrome

Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension

Small Patella Syndrome

Ischiopatellar Dysplasia

Coxopodopatellar Syndrome

Scott-Taor Syndrome

Sps

Ischiocoxopodopatellar Syndrome

Patella Aplasia, Coxa Vara, And Tarsal Synostosis

ICPPS

Congenital Coxa Vara, Patella Aplasia And Tarsal Synostosis

Coxo-Podo-Patellar Syndrome

Patella Aplasia, Coxa Vara, Tarsal Synostosis

Coxopodipatellar 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

Geotrichosis
Juvenile Polyposis Syndrome

JPS

Juvenile Intestinal Polyposis

Jip

Pji

Juvenile Gastrointestinal Polyposis

Juvenile Polyposis

Polyposis, Juvenile Intestinal

Polyposis, Familial, Of Entire Gastrointestinal Tract

Polyposis Familial Of Entire Gastrointestinal Tract

Polyposis Juvenile Intestinal

Polyposis Syndrome, Juvenile

Peripheral Vascular Disease

Peripheral Arterial Disease

Arterial Occlusive Disease

Arterial Occlusive Diseases

Pad

Peripheral Vascular Diseases

Peripheral Occlusive Disease

Peripheral Arterial Diseases

Helicobacter Infections

Arteriovenous Malformations Of The Brain

Cerebral Arteriovenous Malformation

Intracranial Arteriovenous Malformation

Intracranial Hemorrhage In Brain Cerebrovascular Malformations, Susceptibility To

Intracranial Arteriovenous Malformations

Bavm

Cerebral Arteriovenous Malformations

Intracranial Hemorrhage In Brain Cerebrovascular Malformations

Arteriovenous Malformation Of The Brain, Somatic

Intracranial Avm

Arteriovenous Malformations Cerebral

Klippel-Trenaunay-Weber Syndrome

Klippel-Trenaunay Syndrome

KTS

Ktw Syndrome

Angioosteohypertrophy Syndrome

Angio-Osteohypertrophy Syndrome

Klippel Trenaunay Syndrome

Klippel-Trénaunay-Weber Syndrome

Haemangiectatic Hypertrophy

Weber-Klippel-Trenaunay

Congenital Dysplastic Angiopathy

Klippel-Trenaunay Disease

Weber Klippel Trenaunay

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 GDF2 VGNC VGNC:29302
Mus musculus GDF2 MGD MGI:1321394
Macaca mulatta GDF2 VGNC VGNC:72909
Rattus norvegicus GDF2 RGD RGD:1586196
Canis familiaris GDF2 VGNC VGNC:41161
Others GDF2 NCBI