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FLASH GENE
Symbol GDF2 contributors: mct/pgu - updated : 16-10-2013
HGNC name growth differentiation factor 2
HGNC id 4217
Corresponding disease
ORW6 Rendu-Osler-Weber disease 6
Location 10q11.22      Physical location : 48.413.091 - 48.416.853
Synonym name bone morphogenetic protein 9
Synonym symbol(s) BMP9, GDF-2, BMP-9
DNA
TYPE functioning gene
STRUCTURE 3.76 kb     2 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Physical map
ALOX5 10q11.2 arachidonate 5-lipoxygenase MIR 10q11.22 c-mir, cellular modulator of immune recognition LOC387664 10 LOC387664 ANUBL1 10q11.22 AN1, ubiquitin-like, homolog (Xenopus laevis) LOC143158 10q11.22 similar to ARF GTPase-activating protein LOC389959 10 similar to KIAA0592 protein KIAA0592 10q11.1 KIAA0592 protein MRIP2 10q11.22 ARF GTPase-activating protein LOC389960 10 hypothetical gene supported by AY258587; NM_003631 LOC387665 10 similar to ARF GTPase-activating protein LOC387666 10 similar to Ribosome biogenesis protein BMS1 homolog LOC389961 10 hypothetical gene supported by L25628 RHEBP1 10q11 Ras-homolog enriched in brain pseudogene 1 SYT15 10q11.1 synaptotagmin XV PPYR1 10q11.2-q21.2 pancreatic polypeptide receptor 1 LOC387667 10 hypothetical gene supported by BC004945; NM_002136 LOC220466 10q11.22 similar to ARF GTPase-activating protein LOC340733 10q11.22 similar to Dual specificity phosphatase 8 CTSLL2 10q22 cathepsin L-like 2 LOC340844 10q11.22 similar to Ahcy protein LOC195977 10q11.22 hypothetical protein LOC195977 LOC387668 10 similar to ARF GTPase-activating protein ANXA8 10q11.2 annexin A8 FLJ10824 10q11.22 hypothetical protein FLJ10824 LOC389963 10 similar to Sodium/hydrogen exchanger 3 (Na(+)/H(+) exchanger 3) (NHE-3) LOC387669 10 LOC387669 LOC387670 10 hypothetical gene supported by NM_133446 ZNF488 10q11.22 zinc finger protein 488 RBP3 10q11.2 retinol binding protein 3, interstitial GDF2 10q11.22 growth differentiation factor 2 GDF10 10q21.1 growth differentiation factor 10 DKFZP566K0524 10q11.22 DKFZP566K0524 protein LOC387671 10 similar to ARF GTPase-activating protein LOC387672 10 similar to Ribosome biogenesis protein BMS1 homolog LOC387673 10 similar to Glutamate dehydrogenase, mitochondrial precursor (GDH) LOC338598 10q11.22 similar to hypothetical protein MGC5560 LOC118706 10q11.22 similar to ARF GTPase-activating protein LOC387674 10 similar to Ribosome biogenesis protein BMS1 homolog MGC35285 10q11.22 hypothetical protein MGC35285 MAPK8 10q11.2 mitogen-activated protein kinase 8 RhoGAP2 LOC387675 10 LOC387675 LOC159491 LOC389964 10 similar to ribosomal protein L13a; 60S ribosomal protein L13a; 23 kD highly basic protein KIAA1607 FLJ31737 LOC170370 10q11.23 hypothetical LOC170370 LOC170371 10q11.23 hypothetical protein LOC170371 LOC118461 DRG11 ERCC6 10q11 excision repair cross-complementing rodent repair deficiency, complementation group 6 PGBD3 10q11 piggyBac transposable element derived 3 CHAT 10q11.2 choline acetyltransferase SLC18A3 10q11.2 solute carrier family 18 (vesicular acetylcholine), member 3 LOC282966 10q11.23 hypothetical protein LOC282966 FLJ10851 10q11.23 hypothetical protein FLJ10851 MAPK6PS6 10q11.21 hypothetical protein FLJ10851 PARG 10q11.23 poly (ADP-ribose) glycohydrolase
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
2 - 1942 47.2 429 - 2008 18922975
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver   predominantly Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
Cardiovascularendothelial cell
Digestivehepatocyte Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period embryo
Text embryonic mouse septum and spinal cord
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • TGF beta-like domain
  • mono polymer homomer , dimer
    isoforms Precursor cleaved at a consensus Arg-X-XArg to yield a C terminus mature dimer
    HOMOLOGY
    Homologene
    FAMILY
  • BMP family
  • TGF-beta family
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION extracellular
    text secreted
    basic FUNCTION
  • differentiation of cholinergic central nervous system neurons
  • potent synergistic factor for hematopoietic progenitor-cell generation and colony formation and may play a role in the induction and maintenance of the neuronal cholinergic phenotype in the central nervous system
  • may function as a tumor suppressor and apoptosis regulator in prostate cancer
  • circulating under a biologically active form, is a potent antiangiogenic factor that is likely to play a physiological role in the control of adult blood vessel quiescence
  • potent antiangiogenic factor that is likely to play a physiological role in the control of adult blood vessel quiescence
  • potently induces osteogenesis and chondrogenesis, has been implicated in the differentiation of cholinergic neurons, and may help regulate glucose metabolism
  • inducing Smad1/5 phosphorylation in human pulmonary artery endothelial cells, also stimulating Smad2 activation and inducing the expression of interleukin 8 and E-selectin
  • specifically plays a physiologic role in the control of adult blood-vessel maintenance and angiogenesis by targeting ALK1 on endothelial cells
  • cholinergic differentiating factor during development
  • mutual regulation by GDF2 and BMPER is essential in regulating the development of the vascular endothelium
  • GDF2 and BMP10 are important in postnatal vascular remodeling of the retina and BMP10 can substitute for GDF2
  • TMEM100 may play indispensable roles downstream of GDF2/BMP10-ACVRL1 signaling during endothelial differentiation and vascular morphogenesis
  • implicated in regulation of the CXCL12/CXCR4 chemokine axis in endothelial cells (PMID;
  • GDF2 signaling may be relevant during hepatocarcinogenesis
  • exogenous CRELD2 promotes GDF2-induced ectopic bone formation and matrix mineralization, whereas silencing CRELD2 expression diminishes GDF2-induced bone formation and matrix mineralization
  • CELLULAR PROCESS cell life, differentiation
    PHYSIOLOGICAL PROCESS development
    text promoting chondrogenic differentiation of multipotential mesenchymal cells
    PATHWAY
    metabolism
    signaling
    a component
  • autocrine/paracrine mediator in the hepatic reticulo-endothelial system
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • overcoming the inhibitory effect of IL-1 on chondrogenic differentiation
  • with BMP10, are specific ligands for ACVRL1 that potently inhibit microvascular endothelial cell migration and growth
  • interacting with HEY1 (HEY1 expression was significantly up-regulated at the immediate early stage of GDF2 stimulation coinciding with the commitment of mesenchymal stem cells to osteoblast lineage)
  • GDF2 crosstalks with IGF2 through PI3K/AKT signaling pathway during osteogenic differentiation of MSCs
  • GDF2 induced EDN1 release is involved in both inhibition of endothelial cell migration and promotion of tubule formation
  • high specificity of ACVRL1 for GDF2/BMP10 is determined by a novel orientation of ACVRL1 with respect to GDF2, which leads to a unique set of receptor-ligand interactions
  • TMEM100 is a embryonic endothelium-enriched gene activated by GDF2 and BMP10 through ACVRL1
  • GDF2 and BMP10 are the physiological, functionally equivalent ligands of ACVRL1 in vascular development
  • may effectively overcome noggin inhibition, which should at least in part contribute to GDF2 potent osteogenic capability in MSCs
  • PTGS2 plays an important role in GDF2 induced osteogenic differentiation in mesenchymal stem cells
  • histone deacetylases may play an important role in fine-tuning GDF2-mediated osteogenic signaling through a negative feedback network in mesenchymal stem cells
  • activation of JNKs is essential for GDF2 osteoinductive activity
  • CRELD2 may be directly regulated by GDF2
  • GDF2 inhibits lymphatic vessel formation via ACVRL1 during development and cancer progression
  • GDF2 and BMP10 enhance TNF-induced monocyte recruitment to the vascular endothelium mainly via ACVR1
  • cell & other
    REGULATION
    activated by cleaved by subtilisin-like convertases
    ASSOCIATED DISORDERS
    corresponding disease(s) ORW6
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral        
    in prostate cancer, particularly in the foci of higher grade disease
    tumoral     --over  
    in 40p100 of hepatocellular carcinoma cells tissues compared with normal human liver
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    osteoarticularboneostéoporosis
    combination of GDF2 and IGF2 may be explored as an effective bone-regeneration agent to treat large segmental bony defects, nonunion fracture, and/or osteoporotic fracture
    ANIMAL & CELL MODELS