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

Gene ID: 2658, updated on 2-Nov-2024

Summary

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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
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Genomic context

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See GDF2 in Genome Data Viewer
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_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378291 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:48510376-48510765 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2353 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:48473688-48474887 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:48460575-48461276 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:48456799-48457326 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:48456269-48456798 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:48428532-48429032 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:48426933-48427433 Neighboring gene growth differentiation factor 10 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:48402901-48403401 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:48396170-48396832 Neighboring gene retinol binding protein 3 Neighboring gene zinc finger protein 488 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:48354663-48355162

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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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Related articles in PubMed

  1. Germline BMP9 mutation causes idiopathic pulmonary arterial hypertension. Wang XJ, et al. Eur Respir J, 2019 Mar. PMID 30578397
  2. Bone morphogenetic protein 9 regulates tumor growth of osteosarcoma cells through the Wnt/β-catenin pathway. Lv Z, et al. Oncol Rep, 2014 Feb. PMID 24337584
  3. Potential roles of bone morphogenetic protein (BMP)-9 in human liver diseases. Herrera B, et al. Int J Mol Sci, 2014 Mar 25. PMID 24670474, Free PMC Article
  4. Differential Responsiveness to BMP9 between Patent and Fused Suture Progenitor Cells from Craniosynostosis Patients. Song D, et al. Plast Reconstr Surg, 2020 Mar. PMID 32097313
  5. BMP9 regulates cross-talk between breast cancer cells and bone marrow-derived mesenchymal stem cells. Wan S, et al. Cell Oncol (Dordr), 2014 Oct. PMID 25209393

See all (137) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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

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)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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 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

  1. NG_033916.1 RefSeqGene

    Range
    4965..10099
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    47322454..47327588
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    48213864..48218998
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UK05.1 GenPept UniProtKB/Swiss-Prot:Q9UK05

Gene LinkOut

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