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
110	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (47322454..47327588)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (48213864..48218998)
105.20220307	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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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?

Identification and validation of a novel pathogenic variant in GDF2 (BMP9) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations.
Title: Identification and validation of a novel pathogenic variant in GDF2 (BMP9) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations.
CRISPR-mediated BMP9 ablation promotes liver steatosis via the down-regulation of PPARalpha expression.
Title: CRISPR-mediated BMP9 ablation promotes liver steatosis via the down-regulation of PPARα expression.
Clinical manifestations of patients with GDF2 mutations associated with hereditary hemorrhagic telangiectasia type 5.
Title: Clinical manifestations of patients with GDF2 mutations associated with hereditary hemorrhagic telangiectasia type 5.
BMP9 and BMP10: Two close vascular quiescence partners that stand out.
Title: BMP9 and BMP10: Two close vascular quiescence partners that stand out.
BMP-9 downregulates StAR expression and progesterone production by activating both SMAD1/5/8 and SMAD2/3 signaling pathways in human granulosa-lutein cells obtained from gonadotropins induced ovarian cycles.
Title: BMP-9 downregulates StAR expression and progesterone production by activating both SMAD1/5/8 and SMAD2/3 signaling pathways in human granulosa-lutein cells obtained from gonadotropins induced ovarian cycles.
Identification of liver-derived bone morphogenetic protein (BMP)-9 as a potential new candidate for treatment of colorectal cancer.
Title: Identification of liver-derived bone morphogenetic protein (BMP)-9 as a potential new candidate for treatment of colorectal cancer.
BMP9-ID1 signaling promotes EpCAM-positive cancer stem cell properties in hepatocellular carcinoma.
Title: BMP9-ID1 signaling promotes EpCAM-positive cancer stem cell properties in hepatocellular carcinoma.
Homozygous GDF2 nonsense mutations result in a loss of circulating BMP9 and BMP10 and are associated with either PAH or an ""HHT-like"" syndrome in children.
Title: Homozygous GDF2 nonsense mutations result in a loss of circulating BMP9 and BMP10 and are associated with either PAH or an "HHT-like" syndrome in children.
BMP9 and BMP10 Act Directly on Vascular Smooth Muscle Cells for Generation and Maintenance of the Contractile State.
Title: BMP9 and BMP10 Act Directly on Vascular Smooth Muscle Cells for Generation and Maintenance of the Contractile State.
Overexpression of BMP9 promotes ovarian cancer progression via Notch1 signaling.
Title: Overexpression of BMP9 promotes ovarian cancer progression via Notch1 signaling.

Submit: New GeneRIF Correction See all GeneRIFs (108)

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	Compare labs

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

Homology

Homologs of the GDF2 gene: The GDF2 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 312 organisms have orthologs with human gene GDF2
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cytokine activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables growth factor activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in BMP signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in SMAD protein signal transduction	IBA Inferred from Biological aspect of Ancestor 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 iron ion homeostasis	TAS Traceable Author Statement more info	PubMed
involved_in cellular response to BMP stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of DNA biosynthetic process	IDA Inferred from Direct Assay 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 pathway-restricted SMAD protein phosphorylation	IDA Inferred from Direct Assay more info	PubMed
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
involved_in positive regulation of angiogenesis	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 interleukin-8 production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of pathway-restricted SMAD protein phosphorylation	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in positive regulation of pathway-restricted SMAD protein phosphorylation	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	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

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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

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