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Aliases for GDF2 Gene

Aliases for GDF2 Gene

  • Growth Differentiation Factor 2 2 3 5
  • Bone Morphogenetic Protein 9 3 4
  • BMP-9 3 4
  • BMP9 3 4
  • Growth/Differentiation Factor 2 3
  • GDF-2 4
  • HHT5 3

External Ids for GDF2 Gene

Previous GeneCards Identifiers for GDF2 Gene

  • GC10P047523
  • GC10P047653
  • GC10M048349
  • GC10M047807
  • GC10M048033
  • GC10M048413
  • GC10M043166

Summaries for GDF2 Gene

Entrez Gene Summary for GDF2 Gene

  • 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]

GeneCards Summary for GDF2 Gene

GDF2 (Growth Differentiation Factor 2) is a Protein Coding gene. Diseases associated with GDF2 include Telangiectasia, Hereditary Hemorrhagic, Type 5 and Hereditary Hemorrhagic Telangiectasia. Among its related pathways are Apoptotic Pathways in Synovial Fibroblasts and PAK Pathway. Gene Ontology (GO) annotations related to this gene include cytokine activity and transforming growth factor beta receptor binding. An important paralog of this gene is BMP10.

UniProtKB/Swiss-Prot for GDF2 Gene

  • Potent circulating inhibitor of angiogenesis. Signals through the type I activin receptor ACVRL1 but not other Alks. Signaling through SMAD1 in endothelial cells requires TGF-beta coreceptor endoglin/ENG.

Gene Wiki entry for GDF2 Gene

Additional gene information for GDF2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GDF2 Gene

Genomics for GDF2 Gene

GeneHancer (GH) Regulatory Elements for GDF2 Gene

Promoters and enhancers for GDF2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10I047322 Promoter 1.1 EPDnew 550.8 -0.1 -63 0.1 HDAC1 ATF1 TCF12 ZNF766 GATA2 ATF7 CREM RXRA NR2F2 NFIC GDF2 GDF10
GH10I047420 Enhancer 0.6 ENCODE 11.1 +98.7 98728 1.6 JUN CEBPB ZIC2 RFX5 FOSL1 JUND GATA3 GLIS1 ZNF629 CREB1 AGAP9 ZNF488 GDF2 LOC105378292 PIR39362
GH10I047095 Enhancer 0.5 FANTOM5 10.9 -226.5 -226535 0.3 ZNF316 NFATC3 ASH1L GDF2 RBP3 PIR48231 LOC105378291
GH10I047116 Enhancer 0.2 ENCODE 11.1 -206.0 -206022 0.8 GDF2 PIR48231 LOC105378291
GH10I047310 Enhancer 1 Ensembl ENCODE 0.4 -10.6 -10635 2 HDAC1 ELF3 RB1 INSM2 ZNF2 IRF4 RAD21 ZNF335 TCF12 ARID2 GLUD1P2 GDF10 GDF2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GDF2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GDF2 gene promoter:

Genomic Locations for GDF2 Gene

Genomic Locations for GDF2 Gene
5,105 bases
Plus strand

Genomic View for GDF2 Gene

Genes around GDF2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GDF2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GDF2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GDF2 Gene

Proteins for GDF2 Gene

  • Protein details for GDF2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Growth/differentiation factor 2
    Protein Accession:
    Secondary Accessions:
    • Q5VSQ9
    • Q9Y571

    Protein attributes for GDF2 Gene

    429 amino acids
    Molecular mass:
    47320 Da
    Quaternary structure:
    • Homodimer; disulfide-linked (PubMed:25237187, PubMed:28564608). Detected in extracellular fluid as mature homodimer, and in complex with its propeptide (PubMed:21710321, PubMed:25237187). Interacts with ACVRL1, BMPR2 and ACVR2B with high affinity (in vitro) (PubMed:22799562, PubMed:22347366, PubMed:25237187, PubMed:25751889). Identified in a complex with ACVRL1 and ACVR2B (PubMed:22718755). Has ten times lower affinity for ACVR2A (in vitro) (PubMed:25751889). Interacts with ENG, forming a heterotetramer with a 2:2 stoichiometry (PubMed:21737454, PubMed:28564608). Can form a heteromeric complex with ENG and ACVRL1 (PubMed:28564608).

    Three dimensional structures from OCA and Proteopedia for GDF2 Gene

neXtProt entry for GDF2 Gene

Post-translational modifications for GDF2 Gene

  • A reversible disulfide bond can be formed between the two subunits in the homodimer; this has no effect on GDF2 activity.
  • Glycosylation at isoforms=71 and posLast=136136

Other Protein References for GDF2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GDF2 Gene

Domains & Families for GDF2 Gene

Gene Families for GDF2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for GDF2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the TGF-beta family.
  • Belongs to the TGF-beta family.
genes like me logo Genes that share domains with GDF2: view

Function for GDF2 Gene

Molecular function for GDF2 Gene

UniProtKB/Swiss-Prot Function:
Potent circulating inhibitor of angiogenesis. Signals through the type I activin receptor ACVRL1 but not other Alks. Signaling through SMAD1 in endothelial cells requires TGF-beta coreceptor endoglin/ENG.

Gene Ontology (GO) - Molecular Function for GDF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005125 cytokine activity IBA --
GO:0005160 transforming growth factor beta receptor binding IBA --
GO:0005515 protein binding IPI 17068149
GO:0008083 growth factor activity IEA --
genes like me logo Genes that share ontologies with GDF2: view
genes like me logo Genes that share phenotypes with GDF2: view

Human Phenotype Ontology for GDF2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GDF2 Gene

MGI Knock Outs for GDF2:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , miRNA , Transcription Factor Targets and HOMER Transcription for GDF2 Gene

Localization for GDF2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GDF2 Gene


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GDF2 gene
Compartment Confidence
extracellular 5
plasma membrane 2
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
cytosol 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for GDF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IBA --
GO:0005623 cell IEA --
GO:0070062 extracellular exosome IDA,HDA 19056867
genes like me logo Genes that share ontologies with GDF2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GDF2 Gene

Pathways & Interactions for GDF2 Gene

genes like me logo Genes that share pathways with GDF2: view

Interacting Proteins for GDF2 Gene

SIGNOR curated interactions for GDF2 Gene


Gene Ontology (GO) - Biological Process for GDF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001503 ossification TAS 20406889
GO:0001525 angiogenesis IMP 23972370
GO:0001569 branching involved in blood vessel morphogenesis IDA,IEA 20406889
GO:0001570 vasculogenesis IEA --
GO:0001649 osteoblast differentiation IEA --
genes like me logo Genes that share ontologies with GDF2: view

Drugs & Compounds for GDF2 Gene

(2) Drugs for GDF2 Gene - From: DGIdb and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dalantercept Pharma inhibitor ALK1 inhibitor 0
genes like me logo Genes that share compounds with GDF2: view

Transcripts for GDF2 Gene

mRNA/cDNA for GDF2 Gene

(1) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(6) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GDF2 Gene

Growth differentiation factor 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GDF2 Gene

No ASD Table

Relevant External Links for GDF2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for GDF2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GDF2 Gene

mRNA differential expression in normal tissues according to GTEx for GDF2 Gene

This gene is overexpressed in Liver (x50.5).

Protein differential expression in normal tissues from HIPED for GDF2 Gene

This gene is overexpressed in Serum (59.4) and Urinary Bladder (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for GDF2 Gene

Protein tissue co-expression partners for GDF2 Gene

NURSA nuclear receptor signaling pathways regulating expression of GDF2 Gene:


SOURCE GeneReport for Unigene cluster for GDF2 Gene:


mRNA Expression by UniProt/SwissProt for GDF2 Gene:

Tissue specificity: Detected in blood plasma (at protein level).

Evidence on tissue expression from TISSUES for GDF2 Gene

  • Liver(4.4)
  • Bone(2.1)
  • Heart(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GDF2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • ear
  • eye
  • eyelid
  • face
  • head
  • lip
  • mouth
  • nose
  • salivary gland
  • tongue
  • breast
  • esophagus
  • heart
  • heart valve
  • lung
  • duodenum
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
  • anus
  • testicle
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
  • blood
  • blood vessel
  • coagulation system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with GDF2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for GDF2 Gene

Orthologs for GDF2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GDF2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia GDF2 33
  • 99.07 (n)
(Bos Taurus)
Mammalia GDF2 33
  • 83.92 (n)
(Rattus norvegicus)
Mammalia Gdf2 33
  • 82.17 (n)
(Mus musculus)
Mammalia Gdf2 33 16
  • 82.09 (n)
(Canis familiaris)
Mammalia GDF2 33
  • 81.37 (n)
(Gallus gallus)
Aves GDF2 33
  • 63.94 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia gdf2 33
  • 53.7 (n)
(Danio rerio)
Actinopterygii gdf2 33
  • 54.93 (n)
Species where no ortholog for GDF2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GDF2 Gene

Gene Tree for GDF2 (if available)
Gene Tree for GDF2 (if available)

Paralogs for GDF2 Gene

Paralogs for GDF2 Gene

(1) SIMAP similar genes for GDF2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with GDF2: view

Variants for GDF2 Gene

Sequence variations from dbSNP and Humsavar for GDF2 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs138904328 uncertain-significance, not specified, Telangiectasia, hereditary hemorrhagic, type 5 47,325,341(+) G/A coding_sequence_variant, missense_variant
rs142466901 uncertain-significance, Telangiectasia, hereditary hemorrhagic, type 5 47,322,954(+) T/C coding_sequence_variant, missense_variant
rs199804679 pathogenic, Telangiectasia, hereditary hemorrhagic, type 5, Telangiectasia, hereditary hemorrhagic, 5 (HHT5) [MIM:615506] 47,322,922(+) C/G/T coding_sequence_variant, missense_variant
rs200330818 pathogenic, Telangiectasia, hereditary hemorrhagic, type 5, Telangiectasia, hereditary hemorrhagic, 5 (HHT5) [MIM:615506] 47,322,871(+) G/A/T coding_sequence_variant, missense_variant
rs35129734 pathogenic, Telangiectasia, hereditary hemorrhagic, type 5, Telangiectasia, hereditary hemorrhagic, 5 (HHT5) [MIM:615506] 47,325,491(+) C/A/T coding_sequence_variant, missense_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for GDF2 Gene

Variant ID Type Subtype PubMed ID
nsv528799 CNV loss 19592680
nsv831861 CNV loss 17160897

Variation tolerance for GDF2 Gene

Residual Variation Intolerance Score: 50.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.54; 29.87% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GDF2 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GDF2 Gene

Disorders for GDF2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for GDF2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
telangiectasia, hereditary hemorrhagic, type 5
  • hht5
hereditary hemorrhagic telangiectasia
  • osler hemorrhagic telangiectasia syndrome
spherocytosis, type 5
  • sph5
  • telangiectasia
- elite association - COSMIC cancer census association via MalaCards
Search GDF2 in MalaCards View complete list of genes associated with diseases


  • Telangiectasia, hereditary hemorrhagic, 5 (HHT5) [MIM:615506]: A multisystemic vascular dysplasia leading to dilation of permanent blood vessels and arteriovenous malformations of skin, mucosa, and viscera. The disease is characterized by recurrent epistaxis and gastro-intestinal hemorrhage. Visceral involvement includes arteriovenous malformations of the lung, liver, and brain. {ECO:0000269 PubMed:23972370}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for GDF2

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with GDF2: view

No data available for Genatlas for GDF2 Gene

Publications for GDF2 Gene

  1. Bone morphogenetic protein-9 is a circulating vascular quiescence factor. (PMID: 18309101) David L … Bailly S (Circulation research 2008) 3 4 22 58
  2. Crystal structure of BMP-9 and functional interactions with pro-region and receptors. (PMID: 15851468) Brown MA … Choe S (The Journal of biological chemistry 2005) 3 4 22 58
  3. Structural Basis of the Human Endoglin-BMP9 Interaction: Insights into BMP Signaling and HHT1. (PMID: 28564608) Saito T … Jovine L (Cell reports 2017) 3 4 58
  4. Structure of bone morphogenetic protein 9 procomplex. (PMID: 25751889) Mi LZ … Springer TA (Proceedings of the National Academy of Sciences of the United States of America 2015) 3 4 58
  5. Regulation of bone morphogenetic protein 9 (BMP9) by redox-dependent proteolysis. (PMID: 25237187) Wei Z … Li W (The Journal of biological chemistry 2014) 3 4 58

Products for GDF2 Gene

Sources for GDF2 Gene

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