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FLASH GENE
Symbol GDF3 contributors: mct - updated : 15/10/2008
HGNC name growth differentiation factor 3
HGNC id 4218
Corresponding disease
KFS3 Klippel-Feil syndrome 3 with ocular abnormalities
Location 12p13.31      Physical location : 7.842.381 - 7.848.360
Synonym symbol(s) GDF-3
DNA
TYPE functioning gene
STRUCTURE 5.98 kb     2 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Physical map
GRCC9 12p13.31 likely ortholog of mouse gene rich cluster, C9 gene B7 12p13 B7 gene ENO2 12p13.31 enolase 2, (gamma, neuronal) DRPLA 12p13.31 dentatorubral-pallidoluysian atrophy (atrophin-1) GRCC10 12p13.31 likely ortholog of mouse gene rich cluster, C10 gene PTPN6 12p13.31 protein tyrosine phosphatase, non-receptor type 6 REA 12p13.31 protein tyrosine phosphatase, non-receptor type 6 C2F 12p13 C2f protein LOC390285 12 similar to vav-1 interacting Kruppel-like protein isoform b C1S 12p13.31 complement component 1, s subcomponent C1R 12p13.31 complement component 1, r subcomponent C1RL 12p13.31 complement component 1, r subcomponent-like LOC283314 12p13.31 hypothetical protein LOC283314 RBP5 12p13.2 retinol binding protein 5, cellular CLSTN3 12p13.31 calsyntenin 3 PXR1 12p13.31 peroxisome receptor 1 LOC341392 12p13.31 similar to olfactory specific medium-chain acyl CoA synthetase M160 12p13.31 scavenger receptor cysteine-rich type 1 protein M160 CD163 12p13.3 CD163 antigen LOC390286 12 similar to Glyceraldehyde 3-phosphate dehydrogenase, liver (GAPDH) APOBEC1 12p13.2-p13.1 apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 GDF3 12p13.1 growth differentiation factor 3 LOC338759 12p13.31 STELLA CLECSF11 12p13.2-p12.3 C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 11 LOC360030 12p13.31 homeobox C14 NANOG 12p13.31 Nanog homeobox SLC2A14 12p13.3 solute carrier family 2 (facilitated glucose transporter), member 14 SLC2A3 12p13.3 solute carrier family 2 (facilitated glucose transporter), member 3 LOC283320 12p13.31 similar to 60 kDa heat shock protein, mitochondrial precursor (Hsp60) (60 kDa chaperonin) (CPN60) (Heat shock protein 60) (HSP-60) (Mitochondrial matrix protein P1) (P60 lymphocyte protein) (HuCHA60) FHX 12pter-p13.31 similar to 60 kDa heat shock protein, mitochondrial precursor (Hsp60) (60 kDa chaperonin) (CPN60) (Heat shock protein 60) (HSP-60) (Mitochondrial matrix protein P1) (P60 lymphocyte protein) (HuCHA60) C3AR1 12p13.3-p13.1 complement component 3a receptor 1 DKFZP566B183 12p13.31 DKFZP566B183 protein CLECSF6 12p13.1 C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 6 LOC283321 12p13.31 hypothetical LOC283321 LOC387828 12 LOC387828 FLJ10408 12p13.31 hypothetical protein FLJ10408 LOC387829 12 similar to Asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) LOC387830 12 similar to CG7889-PA LOC93320 12p13.31 similar to Alkaline sphingomyelinase LOC387831 12 hypothetical gene supported by AK074886 LOC390287 12 hypothetical gene supported by AK122996 LOC390288 12 similar to olfactory receptor GA_x6K02T2PVTD-14054886-14053957 LOC390289 12 similar to seven transmembrane helix receptor LOC341306 12p13.31 similar to 60S ribosomal protein L15
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
2 - 1224 41.3 364 - -
  • a 114 aa mature peptide of 12.9kda
    		•
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunespleen    
     thymus    
    Reproductivemale systemtestis  lowly
    Urinarykidney   lowly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow   
    Lymphoid    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Reproductivegerm cell
    cell lineage
    cell lines human embryonal carcinoma cell lines in a stem cell-specific fashion
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a 24 aa signal peptide
  • TGF beta-like domain
  • TGF beta propeptide (LAP)
    • conjugated GlycoP
    mono polymer homomer , heteromer , dimer
    isoforms Precursor cleaved at a consensus Arg-X-XArg to yield a C terminus mature dimer
    HOMOLOGY
    interspecies homolog to rattus Gdf3 (68.9 pc)
    homolog to murine Gdf3 (71.2 pc)
    Homologene
    FAMILY
  • TGF-beta family
  • BMP (bone morphogenetic protein) family
    • CATEGORY signaling cytokine growth factor
    SUBCELLULAR LOCALIZATION extracellular
    text secreted
    basic FUNCTION
  • playing a role in the regulation of adult lymphatic and erythroid systems
  • regulating the ability to maintain the undifferentiated state and the ability to differentiate into the full spectrum of cell types of embryonic stem cells
  • functional complementarity between GDF1 and GDF3 during embryonic development
  • important and evolutionarily conserved role for GDF3 in oculo-skeletal development
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with CRIPTO (CRIPTO acts as an obligate coreceptor for transforming growth factor beta (TGF-beta) ligands, including nodals, growth and differentiation factor 1 (GDF1, and GDF3)
    • cell & other
    REGULATION
    activated by cleaved by subtilisin like convertases
    ASSOCIATED DISORDERS
    corresponding disease(s) KFS3
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS