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FLASH GENE
Symbol INVS contributors: mct - updated : 30-04-2011
HGNC name inversin
HGNC id 17870
Corresponding disease
NPHP2 nephronophthisis 2
Location 9q22.33      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 201.92 kb     17 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    SAMD6 9q31.1 sterile alpha motif domain containing 6 GALNT12 9q22.33 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12) LOC392372 9 similar to Nucleoside diphosphate kinase B (NDK B) (NDP kinase B) (P18) COL15A1 9q22.32-q22.33 collagen, type XV, alpha 1 TGFBR1 9q22 transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kDa) ALG2 9q31.1 asparagine-linked glycosylation 2 homolog (yeast, alpha-1,3-mannosyltransferase) SEC61B 9q22.32-q31.3 asparagine-linked glycosylation 2 homolog (yeast, alpha-1,3-mannosyltransferase) LOC347265 9q31.1 similar to bA13B9.3 (novel protein similar to KRT8) LOC389778 9 LOC389778 NR4A3 9q22.32-q22.33 nuclear receptor subfamily 4, group A, member 3 STX17 9q31.1 syntaxin 17 INVS 9q31 inversin FLJ20287 9q31.1 hypothetical protein FLJ20287 MGC17337 9q31.1 similar to RIKEN cDNA 5730528L13 gene TMEFF1 9q31 transmembrane protein with EGF-like and two follistatin-like domains 1 LOC347273 9q31.1 similar to RIKEN cDNA 2310039E09 LOC392373 9 similar to ACTB protein LOC392374 9 similar to uracil DNA glycosylase FLJ20300 LOC347275 9q31.1 similar to RIKEN cDNA C730036D15 BAAT 9q22.3 bile acid Coenzyme A: amino acid N-acyltransferase (glycine N-choloyltransferase) MRPL50 9q31.1 mitochondrial ribosomal protein L50 ZNF189 9q22-q31 zinc finger protein 189 ALDOB 9q21.3-q22.2 aldolase B, fructose-bisphosphate MGC12992 9q31.1 hypothetical protein MGC12992 RNF20 9q22 ring finger protein 20
    RNA
    TRANSCRIPTS type messenger
    text an alternate isoform
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    17 - 3880 140 1065 - 2002 11935322
    18 splicing 3370 125 895 cell-cell junction, complexing with N-cadherin and catenin 2002 11935322
    - - - 90 - - -
    complexing with beta-catenin
    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
  • 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
  • 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
  • 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
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    reversion of left-right asymetry in animal models associated with an anomaly of cilia motility