GDF2 growth differentiation factor 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GDF2provided by HGNC
Official Full Name: growth differentiation factor 2provided by HGNC
Primary source: HGNC:HGNC:4217
See related: Ensembl:ENSG00000263761 MIM:605120; AllianceGenome:HGNC:4217
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BMP9; HHT5; BMP-9
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]
Expression: Restricted expression toward liver (RPKM 6.7) See more
Orthologs: mouse all
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Genomic context

Location:: 10q11.22

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (47322454..47327588)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (48213864..48218998)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (48411774..48416908, complement)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Effects of Modulating BMP9, BMPR2, and AQP1 on BMP Signaling in Human Pulmonary Microvascular Endothelial Cells.
Title: Effects of Modulating BMP9, BMPR2, and AQP1 on BMP Signaling in Human Pulmonary Microvascular Endothelial Cells.
Hepatic-derived BMP9 is involved in hepatic fibrosis-induced kidney injury through inhibition of renal VEGFA.
Title: Hepatic-derived BMP9 is involved in hepatic fibrosis-induced kidney injury through inhibition of renal VEGFA.
SEMA3G regulates BMP9 inhibition of VEGF-mediated migration and network formation in pulmonary endothelial cells.
Title: SEMA3G regulates BMP9 inhibition of VEGF-mediated migration and network formation in pulmonary endothelial cells.
Pulmonary vascular phenotype identified in patients with GDF2 (BMP9) or BMP10 variants: an international multicentre study.
Title: Pulmonary vascular phenotype identified in patients with GDF2 (BMP9) or BMP10 variants: an international multicentre study.
Circulating Bone morphogenetic protein 9 (BMP9) as a new biomarker for noninvasive stratification of nonalcoholic fatty liver disease and metabolic syndrome.
Title: Circulating Bone morphogenetic protein 9 (BMP9) as a new biomarker for noninvasive stratification of nonalcoholic fatty liver disease and metabolic syndrome.
Novel role of bone morphogenetic protein 9 in innate host responses to HCMV infection.
Title: Novel role of bone morphogenetic protein 9 in innate host responses to HCMV infection.
Hemodynamic and Clinical Profiles of Pulmonary Arterial Hypertension Patients with GDF2 and BMPR2 Variants.
Title: Hemodynamic and Clinical Profiles of Pulmonary Arterial Hypertension Patients with GDF2 and BMPR2 Variants.
Bone morphogenetic protein-9 downregulates StAR expression by inducing snail expression via SMAD1/5/8 signaling in human granulosa-lutein cells.
Title: Bone morphogenetic protein-9 downregulates StAR expression by inducing snail expression via SMAD1/5/8 signaling in human granulosa-lutein cells.
BMP-9 Improves the Osteogenic Differentiation Ability over BMP-2 through p53 Signaling In Vitro in Human Periosteum-Derived Cells.
Title: BMP-9 Improves the Osteogenic Differentiation Ability over BMP-2 through p53 Signaling In Vitro in Human Periosteum-Derived Cells.
BMP9 maintains the phenotype of HTR-8/Svneo trophoblast cells by activating the SDF1/CXCR4 pathway.
Title: BMP9 maintains the phenotype of HTR-8/Svneo trophoblast cells by activating the SDF1/CXCR4 pathway.

Submit: New GeneRIF Correction See all GeneRIFs (121)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Telangiectasia, hereditary hemorrhagic, type 5 MedGen: C3809710 OMIM: 615506 GeneReviews: Hereditary Hemorrhagic Telangiectasia	not available

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2016-10-13) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated 2016-10-13) ClinGen Genome Curation Page

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:480542

NoName (e-PCR)
- UniSTS:482109

GDF2_330.2 (e-PCR)
- UniSTS:280695

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cytokine activity	IBA Inferred from Biological aspect of Ancestor more info
enables cytokine activity	IGI Inferred from Genetic Interaction more info	PubMed
enables growth factor activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein serine/threonine kinase activator activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in BMP signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in BMP signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in activin receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in angiogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in blood vessel morphogenesis	IDA Inferred from Direct Assay more info	PubMed
involved_in branching involved in blood vessel morphogenesis	IDA Inferred from Direct Assay more info	PubMed
involved_in cartilage development	TAS Traceable Author Statement more info	PubMed
involved_in cellular response to BMP stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in intracellular iron ion homeostasis	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of DNA replication	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of angiogenesis	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of blood vessel endothelial cell migration	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of cell growth	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of endothelial cell migration	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of endothelial cell proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in ossification	TAS Traceable Author Statement more info	PubMed
involved_in osteoblast differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of BMP signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of positive regulation of Notch signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of SMAD protein signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of angiogenesis	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of bicellular tight junction assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cartilage development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of endothelial cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of endothelial cell proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of epithelial cell differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of interleukin-8 production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in vasculogenesis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
is_active_in extracellular space	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: growth/differentiation factor 2

Names: bone morphogenetic protein 9

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_033916.1 RefSeqGene

Range

4965..10099

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_016204.4 → NP_057288.1 growth/differentiation factor 2 preproprotein

See identical proteins and their annotated locations for NP_057288.1

Status: REVIEWED

Source sequence(s)

AF188285, AK314956, AL731561

Consensus CDS

CCDS73118.1

UniProtKB/Swiss-Prot

Q5VSQ9, Q9UK05, Q9Y571

UniProtKB/TrEMBL

B2RC63

Related

ENSP00000463051.1, ENST00000581492.3

Conserved Domains (2) summary

pfam00019
Location:326 → 428

TGF_beta; Transforming growth factor beta like domain

pfam00688
Location:76 → 257

TGFb_propeptide; TGF-beta propeptide