GDF2 - growth differentiation factor 2 Gene

Homo sapiens

Also known as BMP9; HHT5; BMP-9

Gene ID: 2658 | Gene type: protein coding

About 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).

Summary

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 Products(1)

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables cytokine activity	IGI IGI: Inferred from genetic interaction	32082362	GOA
enables growth factor activity	IDA IDA: Inferred from direct assay	7664647	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	17068149	GOA
enables protein serine/threonine kinase activator activity	IDA IDA: Inferred from direct assay	7664647	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in BMP signaling pathway	IDA IDA: Inferred from direct assay	17068149	GOA
involved in activin receptor signaling pathway	IDA IDA: Inferred from direct assay	17068149	GOA
involved in angiogenesis	IMP IMP: Inferred from mutant phenotype	23972370	GOA
involved in blood vessel morphogenesis	IDA IDA: Inferred from direct assay	20406889	GOA
involved in branching involved in blood vessel morphogenesis	IDA IDA: Inferred from direct assay	20406889	GOA
involved in cellular response to BMP stimulus	IDA IDA: Inferred from direct assay	19366699	GOA
involved in negative regulation of cell growth	IDA IDA: Inferred from direct assay	17068149	GOA
involved in negative regulation of endothelial cell migration	IDA IDA: Inferred from direct assay	17068149	GOA
involved in negative regulation of endothelial cell proliferation	IDA IDA: Inferred from direct assay	20406889	GOA
involved in positive regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	17068149	GOA
acts upstream of positive regulation of Notch signaling pathway	IDA IDA: Inferred from direct assay	32561494	GOA
involved in positive regulation of SMAD protein signal transduction	IDA IDA: Inferred from direct assay	17068149	GOA
involved in positive regulation of angiogenesis	IDA IDA: Inferred from direct assay	20406889	GOA
involved in positive regulation of bicellular tight junction assembly	IDA IDA: Inferred from direct assay	32561494	GOA
involved in positive regulation of endothelial cell proliferation	IDA IDA: Inferred from direct assay	20406889	GOA
involved in positive regulation of epithelial cell differentiation	IDA IDA: Inferred from direct assay	32561494	GOA
involved in positive regulation of interleukin-8 production	IDA IDA: Inferred from direct assay	19366699	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	19366699	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
is active in extracellular space	IDA IDA: Inferred from direct assay	18309101	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GDF2 Protein Structure

TGFb_propeptide

TGF_beta

0
100
200
300
400
429 a.a.

Protein Preferred Names

Protein Names

growth/differentiation factor 2

bone morphogenetic protein 9

Recombinant GDF2 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P700033AF	Animal-Free GDF-2/BMP-9 Protein, Human (His)	Q9UK05 (S320-429R)	≥95%
HY-P700530	GDF-2/BMP-9 Protein, Human (P. pastoris, His)	Q9UK05 (H300-R429)	≥95%

Related Diseases

Diseases

Alias

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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05353	GDF2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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

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