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FLASH GENE
Symbol KIRREL2 contributors: mct/pgu - updated : 13-09-2010
HGNC name kin of IRRE like 2 (Drosophila)
HGNC id 18816
Location 19q13.12      Physical location : 36.347.809 - 36.358.047
Synonym name
  • filtrin
  • kin of irregular chiasm-like 2
  • nephrin-like protein 3
  • nephrin-like gene 1
  • Synonym symbol(s) NLG1, NEPH3, MGC15718, DKFZP564A1164, FILTRIN
    DNA
    TYPE functioning gene
    STRUCTURE 10.24 kb     16 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    cytosine-phosphate-guanine/HTF
    text structure
  • proximal promoter near the transcription start site was found to be devoid of TATA and CAAT boxes, but to contain a highly GC-rich area
  • NF-kappaB and Sp1 response elements are essential for the basal transcriptional activity of itspromoter
  • MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    15 - 2993 75 708 - 2003 12837264
    16 - 2724 67 633 - 2003 12837264
    15 - 2574 61.6 583 - 2003 12837264
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinepancreas    
    Lymphoid/Immunelymph node    
    Urinarykidneynephronrenal capsuleglomerulushighly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Endocrineislet cell (alpha,beta...)
    Urinarypodocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • SH2-binding site and a PDZK1 binding site
  • five Ig domains
  • one TM and one intracellular domain
  • a class 1 PDZ-binding motif at its C-terminus, important for XPR1/KIRREL functions and a conserved C-terminal GRB2
  • HOMOLOGY
    intraspecies homolog to KIRREL
    homolog to nephrin
    Homologene
    FAMILY
  • immunoglobulin superfamily of cell adhesion molecules
  • CATEGORY adhesion , regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • involved in pancreas development and in beta cell function
  • belonging to a functionally important complex of proteins of the glomerular filtration barrier
  • with LRRC7, can act as autoantigens, and autoantibodies against these can be detected in patients with type 1 diabetes
  • with NPHS1 could interact homophilically and heterophilically, suggesting that NPHS1 and KIRREL2 might regulate certain developmental aspects of PTF1A-positive neurons as homo- or heterooligomers
  • nephrin and KIRREL or KIRREL2 trans-interactions promote cell-contact formation, suggesting that they may also function together in slit diaphragm assembly
  • KIRREL, KIRREL2, KIRREL3 and PICK1 synergistically regulate cell recognition and contact formation
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component KIRREL2 homodimerizes and heterodimerizes with nephrin and KIRREL
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • PTF1A directly controls expression of immunoglobulin superfamily molecules NPHS1, and KIRREL2 in the developing central nervous system
  • PICK1-interacting protein
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    decreased in proteinuric diseases
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS