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Aliases for GDF2 Gene

Aliases for GDF2 Gene

  • Growth Differentiation Factor 2 2 3
  • BMP9 3 4 6
  • Bone Morphogenetic Protein 9 3 4
  • BMP-9 3 4
  • GDF-2 3 4
  • HHT5 3 6
  • Growth/Differentiation Factor 2 3

External Ids for GDF2 Gene

Summaries for GDF2 Gene

Entrez Gene Summary for GDF2 Gene

  • The protein encoded by this gene is a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily. This group of proteins is characterized by a polybasic proteolytic processing site which is cleaved to produce a mature protein containing seven conserved cysteine residues. The members of this family are regulators of cell growth and differentiation in both embryonic and adult tissues. Studies in rodents suggest that this protein plays a role in the adult liver and in differentiation of cholinergic central nervous system neurons. Mutations in this gene are associated with hereditary hemorrhagic telangiectasia. [provided by RefSeq, Jan 2014]

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 NF-KappaB Family Pathway and NF-KappaB Family Pathway. GO annotations related to this gene include cytokine activity and growth factor activity.

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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GDF2 Gene

Genomics for GDF2 Gene

Genomic Location for GDF2 Gene

Start:
47,322,490 bp from pter
End:
47,327,317 bp from pter
Size:
4,828 bases
Orientation:
Plus strand

Genomic View for GDF2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GDF2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GDF2 Gene

Regulatory Elements 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

Proteomics data for GDF2 Gene at MOPED

Post-translational modifications for GDF2 Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn71 and Asn136

Other Protein References for GDF2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GDF2 Gene

Domains for GDF2 Gene

Gene Families for GDF2 Gene

HGNC:

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
Family:
  • Belongs to the TGF-beta family.:
    • Q9UK05
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 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

Phenotypes for GDF2 Gene

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

Animal Models for GDF2 Gene

MGI Knock Outs for GDF2:

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

Localization for GDF2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GDF2 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GDF2 Gene COMPARTMENTS Subcellular localization image for GDF2 gene
Compartment Confidence
extracellular 5
cytosol 1
endoplasmic reticulum 1
golgi apparatus 1
mitochondrion 1
nucleus 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for GDF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IBA --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with GDF2: view

Pathways for GDF2 Gene

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

Pathways by source for GDF2 Gene

1 BioSystems pathway for GDF2 Gene

Interacting Proteins 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 patterning of blood vessels IDA 20406889
GO:0001570 vasculogenesis IEA --
GO:0001649 osteoblast differentiation IEA --
genes like me logo Genes that share ontologies with GDF2: view

Compounds for GDF2 Gene

(1) Novoseek inferred chemical compound relationships for GDF2 Gene

Compound -log(P) Hits PubMed IDs
glucose 0 4
genes like me logo Genes that share compounds with GDF2: view

Transcripts for GDF2 Gene

mRNA/cDNA for GDF2 Gene

(2) 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:

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 for GDF2 Gene

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

This gene is overexpressed in Liver (50.5).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for GDF2 Gene

SOURCE GeneReport for Unigene cluster for GDF2 Gene Hs.279463

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

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 35
  • 99.07 (n)
  • 99.77 (a)
cow
(Bos Taurus)
Mammalia GDF2 35
  • 83.92 (n)
  • 80.42 (a)
dog
(Canis familiaris)
Mammalia GDF2 35
  • 81.37 (n)
  • 76.98 (a)
mouse
(Mus musculus)
Mammalia Gdf2 35
  • 82.09 (n)
  • 80.37 (a)
Gdf2 16
rat
(Rattus norvegicus)
Mammalia Gdf2 35
  • 82.17 (n)
  • 81.54 (a)
chicken
(Gallus gallus)
Aves GDF2 35
  • 63.94 (n)
  • 61.78 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia gdf2 35
  • 53.7 (n)
  • 47.13 (a)
zebrafish
(Danio rerio)
Actinopterygii gdf2 35
  • 54.93 (n)
  • 46.57 (a)
Species with no ortholog for GDF2:
  • 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

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

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

No data available for Paralogs for GDF2 Gene

Variants for GDF2 Gene

Sequence variations from dbSNP and Humsavar for GDF2 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type MAF
rs2376931 -- 47,327,358(-) CATAA(A/C/T)GTTTT downstream-variant-500B
rs3740297 -- 47,326,089(-) TCTGG(C/T)TCACT utr-variant-3-prime, intron-variant
rs3758496 -- 47,322,104(-) AGAAT(C/T)GGAAC upstream-variant-2KB
rs3781226 -- 47,323,104(-) AGAGC(C/T)TCCTA intron-variant
rs4922507 -- 47,323,383(+) GCATC(A/T)CTCCC intron-variant

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

Variant ID Type Subtype PubMed ID
dgv252e1 CNV Complex 17122850
nsv510991 OTHER Complex 20534489
nsv8636 CNV Gain+Loss 18304495
nsv436102 CNV Deletion 17901297
nsv7203 OTHER Inversion 18451855
esv2736163 CNV Deletion 23290073
nsv467059 CNV Gain 19166990
esv21870 CNV Gain+Loss 19812545
dgv696n71 CNV Gain 21882294
nsv895342 CNV Loss 21882294
nsv895343 CNV Gain 21882294
nsv895344 CNV Loss 21882294
nsv831861 CNV Loss 17160897
essv16333 CNV CNV 17122850
nsv528799 CNV Loss 19592680

Relevant External Links for GDF2 Gene

HapMap Linkage Disequilibrium report
GDF2
Human Gene Mutation Database (HGMD)
GDF2

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

Disorders for GDF2 Gene

(1) OMIM Diseases for GDF2 Gene (605120)

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.

(1) University of Copenhagen DISEASES for GDF2 Gene

Relevant External Links for GDF2

Genetic Association Database (GAD)
GDF2
Human Genome Epidemiology (HuGE) Navigator
GDF2
genes like me logo Genes that share disorders with GDF2: view

Publications for GDF2 Gene

  1. 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 23
  2. Bone morphogenetic protein-9 is a circulating vascular quiescence factor. (PMID: 18309101) David L. … Bailly S. (Circ. Res. 2008) 3 4 23
  3. Bone morphogenetic protein-9 induces apoptosis in prostate cancer cells, the role of prostate apoptosis response-4. (PMID: 18922975) Ye L. … Jiang W.G. (Mol. Cancer Res. 2008) 3 23
  4. BMP-9 induces proliferation of multiple types of endothelial cells in vitro and in vivo. (PMID: 20406889) Suzuki Y. … Watabe T. (J. Cell. Sci. 2010) 3 23
  5. Bone morphogenetic protein-9. An autocrine/paracrine cytokine in the liver. (PMID: 10849432) Miller A.F. … Olson M.S. (J. Biol. Chem. 2000) 2 3

Products for GDF2 Gene

  • Pathway & Disease-focused RT² Profiler PCR Arrays
  • QIAGEN qRT-PCR Assays for microRNAs that regulate GDF2
    • QuantiTect SYBR Green Assays in human,mouse,rat
    • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
    • QuantiFast Probe-based Assays in human,mouse,rat
    • Predesigned siRNA for gene silencing in human,mouse,rat for GDF2
    • Block miRNA regulation of GDF2 using miScript Target Protectors

    Sources for GDF2 Gene

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