GDF2 - growth differentiation factor 2 Gene

Also Known as BMP9; HHT5; BMP-9

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2658

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	References	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	References	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	References	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-R429)	≥ 95%, as determined by reducing SDS-PAGE.
HY-P700530	GDF-2/BMP-9 Protein, Human (P. pastoris, His)	Q9UK05 (H300-R429)	≥ 90%, as determined by reducing SDS-PAGE.

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

Clinical Phase
Pre-clinical Phase

Clinical Phase

Inhibitory Antibodies (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-P992008	PF-07868489		/	Phase 2

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05353	GDF2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-174781	Human ACVRL1 mRNA		/	Unkown
HY-RS19136	Gdf2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25626	Gdf2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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