Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol DDHD2 contributors: mct/shn - updated : 29-11-2012
HGNC name DDHD domain containing 2
HGNC id 29106
Corresponding disease
SPG54 spastic paraplegia type 54
Location 8p11.23      Physical location : 38.089.008 - 38.120.286
Synonym name
  • DDHD domain-containing protein 2
  • PA-PLA1 like
  • SAM, WWE and DDHD domain containing 1
  • SAM, WWE and DDHD domain-containing protein 1
  • phospholipase DDHD2
  • sec23p-interacting protein p125-like phosphatidic acid-preferring phospholipase A1
  • Synonym symbol(s) SAMWD1, KIAA0725, SPG54
    DNA
    TYPE functioning gene
    STRUCTURE 21.13 kb     16 Exon(s)
    MAPPING cloned Y linked N status confirmed
    Map pter - D8S571 - D8S1722 - DDHD2 - D8S536 - D8S1791 - cen
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    16 splicing 4723 - 711 - 2002 11788596
    4 splicing 1890 - 227 - 2002 11788596
    16 splicing 4546 - 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
    Reproductivefemale systemovary  moderately
     male systemtestis  moderately
    Respiratorylung   highly
    Urinarykidney   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    Epithelialsecretoryglandularexocrine 
    Muscularstriatumskeletal  
    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,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
  • 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