Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol SCUBE3 contributors: mct - updated : 13-01-2021
HGNC name signal peptide, CUB domain, EGF-like 3
HGNC id 13655
Corresponding disease
GSDCF reduced growth, skeletal features, dental anomalies, and a distinctive craniofacial appearance
Location 6p21.31      Physical location : 35.182.189 - 35.218.609
Synonym name
  • CUB and EGF containing protein 3
  • CUB domain and EGF-like repeat containing 3
  • signal peptide, CUB and EGF-like domain containing protein 3
  • Synonym symbol(s) CEGF3, FLJ34743, DKFZp686B09105, DKFZp686B1223, DKFZp686D20108
    DNA
    TYPE functioning gene
    STRUCTURE 39.12 kb     22 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    22 - 5115 109.3 993 - 2020 31742430
    22 - 7816 - 992 - 2020 31742430
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouthtooth  highly Mus musculusFetal
    Skeletonappendicular skeletonlower limbsfemur  
     appendicular skeletonupper limbhumerus  
     axial skeletonskull associated  highly Homo sapiens
    Skin/Tegumentskin appendageshairfollicle highly Mus musculusFetal
    Urinarykidney   highly Mus musculusFetal
    Visualeyelens   
     eyeuveachoroid  
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow   
    Connectivebone    Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    not specificchondrocyte Homo sapiens
    Skeletonosteoblast Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal signal peptide sequence, multiple EGF-like domains,
  • a large spacer region containing multiple N-linked glycosylation sites
  • three repeated stretches of six-cysteine residues and
  • a C-terminal CUB domain
  • conjugated GlycoP
    HOMOLOGY
    Homologene
    FAMILY
  • SCUBE gene family
  • CATEGORY receptor membrane
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
    basic FUNCTION
  • may be playing an important role in bone cell biology
  • may act locally and/or distantly through a proteolytic mechanism, and may play an important role in bone cell biology
  • may have a role in lung cancer progression (in lung cancer cells, could serve as an endogenous autocrine and paracrine ligand of TGFBR2, which could regulate TGFB receptor signaling and modulate EMT and cancer progression)
  • is likely dispensable for normal development; however, they do not exclude the possibility of a co-operative role for SCUBE3 with other SCUBE members during embryogenesis
  • SCUBE3 is linked to processes controlling growth, morphogenesis, and bone and teeth development through modulation of BMP signaling
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS coagulation/hemostasis , ossification
    PATHWAY
    metabolism
    signaling
    a component
  • SCUBE3 might form a complex with heterodimerized BMP receptors to facilitate and stabilize the BMP receptor complex in the lipid rafts
  • INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Ca2+
  • protein
  • acts as a FGF co-receptor to augment FGF8 signaling, and modulates fibroblast growth factor signaling during fast muscle development
  • SCUBE3 functions as a BMP co-receptor
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) GSDCF
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral       loss of function
    by promoter region methylation in primary renal cell carcinoma
    tumoral     --over  
    in lung cancer tumor tissues and is correlated with the invasive ability in a lung cancer cell line model
    tumoral     --over  
    in extremely invasive lung carcinoma
    tumoral     --over  
    in breast cancer cells and tissues
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerlung 
    SCUBE3 is a potential target for pharmacological intervention in lund cancer
    cancerreproductivebreast
    silencing of SCUBE3 suppressed breast cancer cell growth and tumorigenesis through reducing TGFB1
    ANIMAL & CELL MODELS
  • Scube3-/- mice showed craniofacial and dental defects, reduced body size, and defective endochondral bone growth due to impaired BMP-mediated chondrogenesis and osteogenesis