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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 GPCR Pathway and Phospholipase-C Pathway. 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. Could be involved in bone formation. 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

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

Genomics for GDF2 Gene

Regulatory Elements for GDF2 Gene

Enhancers for GDF2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10G047420 0.7 ENCODE 11.1 +98.7 98729 1.6 KLF1 JUN FEZF1 ZIC2 RFX5 FOSL1 ZNF121 GATA3 FOS TCF7L2 AGAP9 ZNF488 GDF2 LOC105378292 PIR39362
GH10G047095 0.6 FANTOM5 10.9 -226.5 -226535 0.3 ZNF316 ZNF146 NFYB GDF2 RBP3 PIR48231 LOC105378291
GH10G047116 0.2 ENCODE 11.1 -206.0 -206023 0.8 GDF2 PIR48231 LOC105378291
GH10G047310 1.1 Ensembl ENCODE 0.4 -10.6 -10635 2.0 HDAC1 ELF3 RB1 INSM2 ZNF2 RAD21 TCF12 EGR1 ZNF143 RCOR1 GLUD1P2 GDF10 GDF2
GH10G047335 0.9 ENCODE 0.4 +14.2 14227 1.4 HDGF ATF1 CREB3L1 TCF12 ZNF766 GATA2 ELK1 FOS CAVIN1 NCOA1 AGAP9 RBP3 GDF2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GDF2 on UCSC Golden Path with GeneCards custom track

Genomic Location for GDF2 Gene

Chromosome:
10
Start:
47,322,490 bp from pter
End:
47,327,594 bp from pter
Size:
5,105 bases
Orientation:
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:
    Q9UK05-GDF2_HUMAN
    Recommended name:
    Growth/differentiation factor 2
    Protein Accession:
    Q9UK05
    Secondary Accessions:
    • Q5VSQ9
    • Q9Y571

    Protein attributes for GDF2 Gene

    Size:
    429 amino acids
    Molecular mass:
    47320 Da
    Quaternary structure:
    • Homodimer; disulfide-linked. Interacts with ENG.

    Three dimensional structures from OCA and Proteopedia for GDF2 Gene

neXtProt entry for GDF2 Gene

Post-translational modifications for GDF2 Gene

  • Glycosylation at Asn71 and Asn136
  • Modification sites at PhosphoSitePlus

Other Protein References for GDF2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

Assay Products

No data available for DME Specific Peptides for GDF2 Gene

Domains & Families for GDF2 Gene

Gene Families for GDF2 Gene

Suggested Antigen Peptide Sequences for GDF2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UK05

UniProtKB/Swiss-Prot:

GDF2_HUMAN :
  • Belongs to the TGF-beta family.
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. Could be involved in bone formation. 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 IEA,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

  • Taconic Biosciences Mouse Models for GDF2

Inhibitory RNA Products

Clone Products

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

Localization for GDF2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GDF2 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
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 IEA,TAS --
GO:0005615 extracellular space IEA,IBA --
GO:0005623 cell IEA --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with GDF2: view

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

Activates:

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 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:

Inhibitory RNA Products

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
GDF2
ECgene alternative splicing isoforms for
GDF2

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:

GDF2

SOURCE GeneReport for Unigene cluster for GDF2 Gene:

Hs.279463

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
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • ear
  • eye
  • eyelid
  • face
  • head
  • lip
  • mouth
  • nose
  • salivary gland
  • tongue
Thorax:
  • breast
  • esophagus
  • heart
  • heart valve
  • lung
Abdomen:
  • duodenum
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
Pelvis:
  • anus
  • testicle
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • 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

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt 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
chimpanzee
(Pan troglodytes)
Mammalia GDF2 34
  • 99.07 (n)
cow
(Bos Taurus)
Mammalia GDF2 34
  • 83.92 (n)
rat
(Rattus norvegicus)
Mammalia Gdf2 34
  • 82.17 (n)
mouse
(Mus musculus)
Mammalia Gdf2 34 16
  • 82.09 (n)
dog
(Canis familiaris)
Mammalia GDF2 34
  • 81.37 (n)
chicken
(Gallus gallus)
Aves GDF2 34
  • 63.94 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia gdf2 34
  • 53.7 (n)
zebrafish
(Danio rerio)
Actinopterygii gdf2 34
  • 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

ENSEMBL:
Gene Tree for GDF2 (if available)
TreeFam:
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 Sequence Context AA Info Type
rs199804679 Pathogenic, Telangiectasia, hereditary hemorrhagic, 5 (HHT5) [MIM:615506] 47,322,922(-) GCGGC(A/G)GCTCC reference, missense
rs200330818 Pathogenic, Telangiectasia, hereditary hemorrhagic, 5 (HHT5) [MIM:615506] 47,322,871(-) GGCTG(A/C/T)GCAGG reference, missense
rs35129734 Pathogenic, Telangiectasia, hereditary hemorrhagic, 5 (HHT5) [MIM:615506] 47,325,491(-) TACCC(A/G/T)CAGGG reference, missense
rs1000165948 -- 47,321,235(+) CAGGC(C/T)CAGCC upstream-variant-2KB
rs1000190492 -- 47,326,993(+) CCTCT(C/G)CAGCC utr-variant-3-prime

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)

Relevant External Links for GDF2 Gene

Human Gene Mutation Database (HGMD)
GDF2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GDF2

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

Disorders for GDF2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for GDF2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
telangiectasia, hereditary hemorrhagic, type 5
  • telangiectasia, hereditary hemorrhagic, 5
hereditary hemorrhagic telangiectasia
  • osler hemorrhagic telangiectasia syndrome
gdf2-related hereditary hemorrhagic telangiectasia
  • telangiectasia, hereditary hemorrhagic, type 5
telangiectasis
  • telangiectasia
spherocytosis, hereditary, type 5
  • hereditary spherocytosis type 5
- elite association - COSMIC cancer census association via MalaCards
Search GDF2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GDF2_HUMAN
  • 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.

Relevant External Links for GDF2

Genetic Association Database (GAD)
GDF2
Human Genome Epidemiology (HuGE) Navigator
GDF2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GDF2
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. (Circ. Res. 2008) 3 4 22 64
  2. Crystal structure of BMP-9 and functional interactions with pro- region and receptors. (PMID: 15851468) Brown M.A. … Choe S. (J. Biol. Chem. 2005) 3 4 22 64
  3. BMP9 mutations cause a vascular-anomaly syndrome with phenotypic overlap with hereditary hemorrhagic telangiectasia. (PMID: 23972370) Wooderchak-Donahue W.L. … Bayrak-Toydemir P. (Am. J. Hum. Genet. 2013) 3 4 64
  4. Specificity and structure of a high affinity activin receptor-like kinase 1 (ALK1) signaling complex. (PMID: 22718755) Townson S.A. … Grinberg A.V. (J. Biol. Chem. 2012) 3 4 64
  5. Soluble endoglin specifically binds bone morphogenetic proteins 9 and 10 via its orphan domain, inhibits blood vessel formation, and suppresses tumor growth. (PMID: 21737454) Castonguay R. … Grinberg A.V. (J. Biol. Chem. 2011) 3 4 64

Products for GDF2 Gene

Sources for GDF2 Gene

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