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FLASH GENE
Symbol NPNT contributors: mct/npt/pgu - updated : 24-05-2016
HGNC name nephronectin
HGNC id 27405
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • five EGF-like domains
  • a RGD cell binding motif
  • a meprin, A5 protein, and receptor protein-tyrosine phosphatase mu domain (MAM), with strong cell adhesion, spreading, and survival-promoting activities
    • HOMOLOGY
    Homologene
    FAMILY
  • nephronectin family
    • CATEGORY adhesion
    SUBCELLULAR LOCALIZATION extracellular
    text
  • extracellular matrix protein
    • basic FUNCTION
  • involved in the development and function of various tissues, kidney, bone, muscle, and endocrine organs
  • epidermal growth factor (EGF)-like implicated in embryonic development as well as maintenance of various adult tissues
  • may provide a useful tissue and urine biomarker for both the development and evolution of nephrotoxic acute renal injury
  • positive regulator of osteoblast differentiation
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • nephronectin/alpha8-beta1 integrin is a pathway that regulates GDNF expression and is essential for kidney development
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • ligand for ITGA8 beta 1 (essential ligand that engages alpha8beta1 integrin during early kidney development)
  • expression of NPNT is regulated by the TGFBR1-SMAD2 signaling pathway in osteoblasts
    • cell & other
    REGULATION
    repressed by TYNF (TNF-induced down-regulation of NPNT gene expression occurred in both time- and dose-dependent manners through the nuclear factor kappa B (NFKB) pathway)
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    causes kidney agenesis or hypoplasia
    constitutional     --over  
    promotes osteoblast differentiation via its EGF-repeats
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS