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FLASH GENE
Symbol DDHD2 contributors: mct/shn - updated : 17-03-2021
HGNC name DDHD domain containing 2
HGNC id 29106
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
18 splicing 4723 - 711 - 2002 11788596
4 splicing 1890 - 227 - 2002 11788596
16 splicing 4546 - 711 - 2002 11788596
18 - 4735 - 711 - 2002 11788596
17 - 4592 - 681 - 2002 11788596
18 - 3675 - 711 - 2002 11788596
18 - 4649 - 711 - 2002 11788596
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
blood / hematopoieticspleen   lowly
Cardiovascularheart   highly
Nervousbrain   predominantly Homo sapiens
 brainlimbic systemhippocampus   Homo sapiens
Reproductivefemale systemovary  moderately
 male systemtestis  moderately
Respiratorylung   highly
Urinarykidney   moderately
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal  
cells
SystemCellPubmedSpeciesStageRna symbol
Nervousneuron Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a WWE, lipase,
  • a RIDYXL motif
  • a SAM and a C-terminal DDHD domain that contain a minimal region for phosphatidylinositol 4-phosphate (Pl(4)P)-binding
  • HOMOLOGY
    interspecies ortholog to Ddhd2, Mus musculus
    ortholog to Ddhd2, Rattus norvegicus
    ortholog to DDHD2, Pan troglodytes
    ortholog to ddhd2, Danio rerio
    Homologene
    FAMILY phosphatidic acid-preferring phospholipase A(1) protein family
    CATEGORY enzyme , regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    text cis-Golgi and also to the endoplasmic-reticulum (ER)-Golgi intermediate compartment
    basic FUNCTION
  • having a phospholipase A(1) activity preferentially for phosphatidic acid
  • playing a role in morphology of organelles
  • contributes to efficient membrane trafficking from the Golgi apparatus to the plasma membrane, but is not involved in brefeldin A-induced Golgi-to-endoplasmic reticulum retrograde transport
  • required for efficient membrane trafficking from the Golgi apparatus to the plasma membrane
  • an essential role in synaptic organization and transmission
  • an essential role in lipid metabolism in the central nervous system
  • phosphoinositide-binding and phospholipase activity depending on SAM and DDHD domains
  • is a principal brain triglyceride lipase
  • is a principal triglyceride hydrolase in the central nervous system
  • importance of triglyceride metabolism for normal CNS function and the key role of DDHD2 in this process
  • CELLULAR PROCESS cell organization/biogenesis
    PHYSIOLOGICAL PROCESS
    text a phosphoinositide-binding protein with a phospholipase activity
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
    protein
    cell & other membranes
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SPG54
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    causes disorganization of the ER and Golgi
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Knockdown of Ddhd2 Drosophila ortholog resulted in a mild but highly significant decrease in active-zone number per synaptic terminal
  • genetic deletion of this enzyme in mice leads to ectopic lipid droplet (LD) accumulation in neurons throughout the brain