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FLASH GENE
Symbol KIRREL3 contributors: mct/pgu - updated : 15-09-2017
HGNC name kin of IRRE like 3 (Drosophila)
HGNC id 23204
Corresponding disease
DEL11QD chromosome 11q distal deletion syndrome
MRD4 Mental retardation, autosomal dominant 4
Location 11q24.2      Physical location : 126.293.396 - 126.870.766
Synonym name
  • Kin of irregular chiasm-like 3
  • nephrin-like protein 2
    • Synonym symbol(s) NEPH2, KIAA1867, KIRRE, MGC126824, MGC126850, PRO4502, MRD4
    DNA
    TYPE functioning gene
    STRUCTURE 579.97 kb     17 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    17 - 3794 85.1 778 - 2014 25488023
    14 - 2536 65.17 600 - 2014 25488023
    16 - 3758 - 766 - 2014 25488023
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouth   highly
    Nervousbrain   highly
    Respiratoryrespiratory tractlarynx  highly
    Urinarykidneynephron   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal   Homo sapiens
    Nervouscentral  highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Urinarypodocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text in the developing central nervous system
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • five extracellular Ig-like repeats,
  • a transmembrane domain
  • a cytoplasmic domain
  • a class 1 PDZ-binding motif at its C-terminus, important for XPR1/KIRREL functions
    • HOMOLOGY
    interspecies homolog to murine Kirrel3
    ortholog to drosophila Dumbfounded (Duf)
    Homologene
    FAMILY
  • immunoglobulin superfamily
  • nephrin-like protein family
    • CATEGORY receptor membrane
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
    intracellular,cytoplasm,cytosolic,vesicle
    text transported in vesicles into the plasma membrane
    basic FUNCTION
  • playing a role in the organization and/or maintenance of the glomerular slit diaphragm that may differ from the functions of KIRREL and NPHS1
  • might play a role in the axonal pathfinding, cell recognition, and synapse formation of dorsal root ganglia neurons on appropriate target cells, including the targeting of proprioceptive neurons on muscle spindles through the interaction with nephrin
  • critical regulator of glomerular function and both KIRREL and KIRREL3 are required for glomerular maintenance and development
  • critical regulator of the glomerular filtration barrier
  • essential immunoglobulin superfamily protein for the maintenance of the complex glomerular architecture
  • KIRREL, KIRREL2, KIRREL3 and PICK1 synergistically regulate cell recognition and contact formation
  • is important for normal locomotor activity and object recognition memory
  • regulates target-specific synapse formation at hippocampal mossy fiber (MF) synapses, which connect dentate granule (DG) neurons to both CA3 and GABAergic neurons
  • is transported in vesicles into the plasma membrane and its extracellular domain is cleaved in a proteasome-dependent manner
  • is required for the elongated shape of myocytes during skeletal muscle differentiation
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with the C-terminus of NPHS2 via its cytoplasmic domain
  • binds to nephrin (NPHS1), another component of the slit diaphragm
    • interaction with CASK, recently implicated in X-linked brain malformation and mental retardation
  • interaction between KIRREL, KIRREL3 and NPHS1
  • PICK1-interacting protein
  • KIRREL3 interacting proteins are potential candidates for intellectual disability and autism spectrum disorder
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DEL11QD , MRD4
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    in patients with mild to severe intellectual disability
    Susceptibility
    Variant & Polymorphism
    Candidate gene for ID in Jacobsen syndrome
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Neph2(-/-) mice) display moderate hyperactivity in a familiar, but not novel, environment
  • Kirrel3(-/-) mice display a loss of male-male aggression in a resident-intruder assay