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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
    Physical map
    BCL7A 12q24.13 B-cell CLL/lymphoma 7A MONDOA 12q21.31 Mlx interactor MGC35140 12q24.31 hypothetical protein MGC35140 B3GNT4 12q24 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 DIABLO 12q24.1-q24.31 diablo homolog (Drosophila) VPS33A 12q24.31 vacuolar protein sorting 33A (yeast) RSN 12q24.3 restin (Reed-Steinberg cell-expressed intermediate filament-associated protein) RPL21P1 12q24.2-q24.3 ribosomal protein L21 pseudogene 1 DKFZp434E2220 12q24.31 hypothetical protein DKFZp434E2220 FLJ11021 12q24.31 similar to splicing factor, arginine/serine-rich 4 KNTC1 12q24.31 kinetochore associated 1 HM74a 12q24.31 G protein-coupled receptor HM74a HM74 12q24.31 G protein-coupled receptor HM74a GPR81 12q24.3 G protein-coupled receptor 81 DENR 12q24.31 density-regulated protein TSP-NY 12q24.31 testis-specific protein TSP-NY HIP1R 12q24 huntingtin interacting protein-1-related FLJ12750 12q24.31 hypothetical protein FLJ12750 ABCB9 12q24.31-q24.32 ATP-binding cassette, sub-family B (MDR/TAP), member 9 FLJ13491 12q24.31 hypothetical protein FLJ13491 ARL6IP4 12q24.31 ADP-ribosylation-like factor 6 interacting protein 4 PITPNM2 12q24.31 phosphatidylinositol transfer protein, membrane-associated 2 FLJ13769 12q24.31 hypothetical protein FLJ13769 MPHOSPH9 12q24.31 M-phase phosphoprotein 9 FLJ38663 12q24.31 hypothetical protein FLJ38663 CDK2AP1 12q24.31 CDK2-associated protein 1 SBNO1 12q24.31 sno, strawberry notch homolog 1 (Drosophila) LOC387893 12 similar to SET domain-containing protein 8 MGC7036 12q24.31 hypothetical protein MGC7036 RNP24 12q24.31 coated vesicle membrane protein DDX55 12q24.31 DEAD (Asp-Glu-Ala-Asp) box polypeptide 55 EIF2B1 12q24.2-q24.31 eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa GTF2H3 12q24.31 general transcription factor IIH, polypeptide 3, 34kDa FLJ12975 12q24.31 hypothetical protein FLJ12975 ATP6V0A2 12q24.31 ATPase, H+ transporting, lysosomal V0 subunit a isoform 2 DNAH10 13q14 dynein, axonemal, heavy polypeptide 10 FLJ22471 12q24.31 limkain beta 2 DKFZp761B128 12q24.31 hypothetical protein DKFZp761B128
    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