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FLASH GENE
Symbol PITPNM2 contributors: mct - updated : 23-12-2016
HGNC name phosphatidylinositol transfer protein, membrane-associated 2
HGNC id 21044
Location 12q24.31      Physical location : 123.468.026 - 123.594.975
Synonym name
  • retinal degeneration B alpha 2 (Drosophila)
  • PYK2 N-terminal domain-interacting receptor 3
  • Synonym symbol(s) NIR3, Rdgb2, RDGBA2, KIAA1457, RdgBalpha2, NIR-3
    DNA
    TYPE functioning gene
    STRUCTURE 127.01 kb     24 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    25 - 6797 - 1343 - 2005 15627748
    25 - 6754 - 1349 - 2005 15627748
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain    
    Visualeyeuvea    Homo sapiens
     eyeretina    Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier liningretinal pigment epithelium (RPE)   Homo sapiens
    Nervousperipherous    Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Visualganglion cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal PITP domain
  • an FFAT (two phenylalanines (FF) in an acidic tract) motif
  • two other domains, DDHD (heavy metal binding domain containing Asp and His residues) and LNS2, of unknown function
  • HOMOLOGY
    interspecies homolog to Drosophila Rdgb
    Homologene
    FAMILY
  • Class IIA PITP family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • may be playing a role in visual proessing in the inner retina or for hippocampal function
  • PITPNM1, PITPNM2, PITPNM3, PITPNA, PITPNB, PITPNC1 are regulators of phosphoinositide pathways by recruitment to membranes through specific protein interactions to promote molecular exchange between closely opposed membranes i.e., at membrane contact sites
  • is required in a cellular circuit that transduces light input from rods to bipolar cells that are coupled to GABAergic amacrine cells and ultimately to ipRGCs (intrinsically photosensitive retinal ganglion cells), thereby enabling ipRGCs to respond to dim light
  • PITPNM1, PITPNM2, work in tandem to achieve different levels of feedback based on the consumption of PM (plasma membrane) Phosphatidylinositol 4,5-Bisphosphate and function at ER-PM junctions to mediate nonvesicular lipid transport between the ER and the PM
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
    calcium Ca2+
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Pitpnm1 null mice showed no hearing defects, possibly due to redundancy with the paralogous genes Pitpnm2 and Pitpnm3
  • under high light intensities, RdgB2(-/-) mutant mice showed normal pupillary light responses and circadian photoentrainment