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FLASH GENE
Symbol SOAT2 contributors: mlc - updated : 28-11-2007
HGNC name sterol O-acyltransferase 2
HGNC id 11178
Location 12q13.13      Physical location : 53.497.273 - 53.518.322
Synonym name
  • acyl Co-A: cholesterol acyltransferase 2
  • Synonym symbol(s) ACAT2, ARGP2, ACACT2, MGC116732
    EC.number 2.3.1.26
    DNA
    TYPE functioning gene
    STRUCTURE 25.00 kb     16 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence
    text structure lack sterol regulatory elements in the promoter
    MAPPING cloned Y linked   status provisional
    Physical map
    K6IRS2 12q13.13 poly(rC) binding protein 2 K6IRS3 12q13.3 poly(rC) binding protein 2 KRT2A 12q13.1-q13.2 keratin 2A (epidermal ichthyosis bullosa of Siemens) KRT1 12q13 keratin 1 (epidermolytic hyperkeratosis) LOC387860 12 similar to keratin 1b LOC341409 12q13.13 similar to DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 LOC387861 12 similar to K+ channel tetramerization protein HUMCYT2A 12q13.13 cytokeratin 2 KRT3 12q13 keratin 3 KRT4 12q13 keratin 4 KRT6L 12q13.13 keratin 6L K5B 12q13.13 keratin 5b KRT8 12q13 keratin 8 KRT18 12q13 keratin 18 EIF4B 12q13.13 eukaryotic translation initiation factor 4B PRO1843 12q13.13 hypothetical protein PRO1843 TENC1 12q12 tensin like C1 domain-containing phosphatase FLJ14800 12q13.13 hypothetical protein FLJ14800 IGFBP6 12q13 insulin-like growth factor binding protein 6 SOAT2 12q13.13 sterol O-acyltransferase 2 LOC387862 12 hypothetical gene supported by AK130082; NM_001416 CSAD 12q13.11-q14.3 cysteine sulfinic acid decarboxylase LOC390316 12 similar to oriLyt TD-element binding protein 7 ITGB7 12q13.2 integrin, beta 7 MGC11308 12q13.13 hypothetical protein MGC11308 ESPL1 8 extra spindle poles like 1 (S. cerevisiae) PFDN5 12q13.1 prefoldin 5 C12orf10 12q13 chromosome 12 open reading frame 10 AAAS 12q13 achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A) SP7 12q12 Sp7 transcription factor SP1 12q13.1 Sp1 transcription factor AMHR2 12q13 anti-Mullerian hormone receptor, type II DKFZP564J157 12q12 DKFZp564J157 protein PCBP2 12q13.12-q13.13 poly(rC) binding protein 2
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    16 - 2073 - 522 - Kiss (2007), Yao (2005)
    - splicing - - 502 - Yao (2005)
  • lack of the exon 4
  • lacked the phosphorylatable site SLLD, and their enzymatic activities reduced to 30p100 of that of ACAT2a
  • - splicing - - 379 - Yao (2005)
  • lack exons 4-5 plus 8-9-10
  • lacked the phosphorylatable site SLLD, and enzymatic activities reduced to 30p100 of that of ACAT2a
  • EXPRESSION
    Type restricted
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine  highly
     liver    
    Skin/Tegumentskin    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Digestiveenterocyte
    Digestivehepatocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    Text liver
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    mono polymer homomer , heteromer , dimer
    HOMOLOGY
    interspecies homolog to murine Soat2
    intraspecies homolog to SOAT2
    Homologene
    FAMILY sterol-o-acyltransferase family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum ,rough,smooth
    text located in the rough endoplasmatic reticulum that catalyzes the synthesis of cholesteryl esters from cholesterol and long-chain fatty acids
    basic FUNCTION
  • sterol O-acyltransferase 2, a crucial element of intracellular lipid homeostasis
  • plays an important role in cholesterol absorption
  • responsible for intracellular cholesterol esterification
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism lipid/lipoprotein
    signaling
    cholesterol
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    Other transcriptionally regulated by cholesterol
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --other  
    aberrantly expressed in macrophage and lipid-laden cells of the atheromatous plaques
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS