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FLASH GENE
Symbol INVS contributors: mct - updated : 27-06-2019
HGNC name inversin
HGNC id 17870
Corresponding disease
NPHP2 nephronophthisis 2
Location 9q31.1      Physical location : 102.861.510 - 103.063.426
Synonym name
  • inversin, human ankyrin-like gene
  • nephrocystin 2
  • Synonym symbol(s) INV, NPH2, NPHP2, INVS1, KIAA0573, MGC133080, MGC133081
    DNA
    TYPE functioning gene
    STRUCTURE 202.92 kb     17 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    text an alternate isoform
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    17 - 3880 140 1065 - 2002 11935322
    18 splicing 5068 - 969 cell-cell junction, complexing with N-cadherin and catenin 2002 11935322
    - - - 90 - - 2002 11935322
    complexing with beta-catenin
    17 - 4991 - 739 - 2002 11935322
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   highly
    Urinarykidney   highly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Urinaryepithelial cell Homo sapiens
    Urinarytubular cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text kidney, liver, eye
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • sixteen ankyrin (ANK) repeats
  • two IQ,calmodulin binding motifs
  • two potential nuclear localization signals (NLS)
  • HOMOLOGY
    interspecies ortholog to murine Invs
    Homologene
    FAMILY
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    intracellular,cytoplasm,cytoskeleton,microtubule,mitotic spindle
    intracellular,nucleus
    text
  • in the primary cilium of tubular epithelial cells
  • localized at a distinctive proximal segment of the primary cilium
  • basic FUNCTION
  • involved in the left-right body axis and in regulating the cell cycle
  • may be functioning in renal tubular development and function
  • acting as a molecular switch between different Wnt signaling cascades
  • acts as a molecular anchor for NPHP3 and NEK8 in the proximal segment of primary cilia
  • inhibiting the canonical Wnt pathway by targeting cytoplasmic dishevelled (Dsh or Dvl1) for degradation (essential for normal renal cell development)
  • Required for tubule elongation, and for normal pronephros development
  • regulates Wnt signaling and is required for convergent extension movements during early embryogenesis
  • acts downstream of Frizzled-8 in pronephros morphogenesis
  • may plays a role in noncanonical Wnt signaling in the kidney
  • essential for the morphogenesis of the proximal and intermediate pronephric system and relays Frizzled-8–dependent signals to recruit Dishevelled to the plasma membrane
  • B9D2, INVS, and IQCB1 support the transport of a cargo protein, Opsin, but not another photoreceptor ciliary transmembrane protein, Peripherin (PHPN)
  • Nephrocystins and MKS proteins interact with IFT particle and facilitate transport of selected ciliary cargos
  • is involved in the control of ciliary disassembly
  • played an important role in embryonic development and renal diseases
  • might promote the tumorigenicity of lung cancer cells
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    text ? nodal flow
    PATHWAY
    metabolism
    signaling
    a component
  • complexing with nephrocystin and beta-tubulin
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • calmodulin, ANAPC2
  • NPHP1, NPHP3, NPHP4
  • INVS is essential for the compartmental localization of NPHP3 and NEK8, whereas localization of INVS does not require NPHP3 or NEK8
  • B9D2, INVS, and IQCB1 support the transport of a cargo protein, Opsin, but not another photoreceptor ciliary transmembrane protein, PRPH
  • CEP290 interacts with INVS, through its N-terminus
  • ANKS6 is a new NPHP family member that connects NEK8 (NPHP9) to INVS (NPHP2) and NPHP3
  • INVS, NPHP1 can interfere with ciliary disassembly through interaction with the AURKA module, thereby modulating cell cycle control and cell proliferation
  • INVS interacts with AKT1
  • could upregulate the expression of CDH2, VIM, MMP2, and MMP9
  • INVS and NPHP3 cooperate and promote ANKS6 phosphorylation by NEK8 in renal cilia
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) NPHP2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    leads to impaired ventral extension and elongation of the early pronephros
    constitutional       loss of function
    decreases Na+ transport via SCNN1A, mediated in part by transcriptional and posttranslational regulation of CRTC2/SGK1/NEDD4L axis as a contributory mechanism for enlarged kidneys in NPHP2
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerlung 
    serve as a novel therapeutic target of non-small cell lung cancer
    ANIMAL & CELL MODELS
    reversion of left-right asymetry in animal models associated with an anomaly of cilia motility