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FLASH GENE
Symbol CCBE1 contributors: mct/npt/pgu - updated : 14-10-2014
HGNC name collagen and calcium binding EGF domains 1
HGNC id 29426
Corresponding disease
HLLS Hennekam lymphangiectasia-lymphedema syndrome
Location 18q21.32      Physical location : 57.098.171 - 57.364.644
Synonym name KIAA1983 protein
Synonym symbol(s) FLJ30681, KIAA1983, MGC50861, UNQ1921/PRO4395, HKLLS1
DNA
TYPE functioning gene
STRUCTURE 266.90 kb     11 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
11 - 6275 - 406 - 2009 19287381
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularvessel    
Digestiveintestine    
Reproductivefemale systemovary  highly
Urinarykidney   highly
cells
SystemCellPubmedSpeciesStageRna symbol
Cardiovascularendothelial cell
cell lineage
cell lines
fluid/secretion
at STAGE
Text expressed in the developing intestine
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a signal peptide
  • a collagen domain
  • a calcium-binding EGF domain
  • HOMOLOGY
    Homologene
    FAMILY
  • CCBE1 family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION extracellular
    basic FUNCTION
  • having an indispensible role for embryonic lymphangiogenesis
  • acting at the same stage of development as VEGFC and required for lymphangioblast budding and angiogenic sprouting from venous endothelium
  • acting nonautonomously during embryonic lymphangiogenesis
  • might be involved in guidance of the lymphatic vessel migrating cells
  • is potentially essential but not sufficient for lymphangiogenesis
  • plays an essential role in regulating the fetal liver erythropoietic environment
  • is a crucial component of the VEGFC/FLT4 pathway in the embryo
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HLLS
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    miscelleaneousvascular 
    is a potential therapeutic tool for the modulation of lymphangiogenesis and angiogenesis in a variety of diseases that involve the lymphatic system, such as lymphedema or lymphatic metastasis
    ANIMAL & CELL MODELS
  • loss of Ccbe1 also confers severe anemia in midgestation mouse embryos due to defective definitive erythropoiesis