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FLASH GENE
Symbol SCP2 contributors: mct - updated : 13-07-2017
HGNC name sterol carrier protein 2
HGNC id 10606
Corresponding disease
DMN1 dystonia and motor neuropathy 1
Location 1p32.3      Physical location : 53.392.900 - 53.517.289
Synonym name
  • non specific lipid-transfer protein
  • sterol carrier protein X
  • propanoyl-CoA C-acyltransferase
  • Synonym symbol(s) SCPX, NLTP, NSL-TP, DKFZp686C12188, DKFZp686D11188, SCP-CHI, SCP-2, SCP-chi
    EC.number 2.3.1.176
    DNA
    TYPE functioning gene
    STRUCTURE 124.39 kb     16 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site
    text structure
  • SF1 binding site and three activators protein-1 element, one insuline response element (SF1 increase SCP2 promoter activity)
  • two distinct initiation sites
  • MAPPING cloned Y linked   status confirmed
    Physical map
    LOC284546 1p32.3 similar to RIKEN cDNA 4930522H14 LOC391039 1 similar to Cofilin, non-muscle isoform (18 kDa phosphoprotein) (P18) RNF11 1p32-p31 ring finger protein 11 LOC388631 1 similar to ribosomal protein S2; 40S ribosomal protein S2 C1orf34 1p33 chromosome 1 open reading frame 34 EPS15 1p32.2-p31 epidermal growth factor receptor pathway substrate 15 OSBPL9 1p34.2-p32.2 oxysterol binding protein-like 9 NRD1 1p32.2 nardilysin (N-arginine dibasic convertase) RAB3B 1p32-p31 RAB3B, member RAS oncogene family TLP19 1p32.3 endoplasmic reticulum thioredoxin superfamily member, 18 kDa LOC112970 1p32.3 hypothetical protein BC012173 LOC391040 1 similar to RIKEN cDNA 5730434I03 gene MADHIP 1p32.3 MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor KIAA1836 1p32.3 KIAA1836 protein ORC1L 1p32 origin recognition complex, subunit 1-like (yeast) FLJ14936 1p33-p32.1 hypothetical protein FLJ14936 KIAA0191 1p31-32 hypothetical protein FLJ14936 GPX6 6p21.33 glutathione peroxidase 6 (olfactory) MGC52498 1p32.3 hypothetical protein MGC52498 FLJ12439 1p32.3 hypothetical protein FLJ12439 FLJ13456 1p32.3 hypothetical protein FLJ13456 FLJ10948 1p32.3 hypothetical protein FLJ10948 SCP2 1p32 sterol carrier protein 2 PODN 1p32.3 podocan SLC1A7 1p33 solute carrier family 1 (glutamate transporter), member 7 CPT2 1p32 carnitine palmitoyltransferase II FLJ20580 1p32.3 hypothetical protein FLJ20580 MAGOH 1p34-p33 mago-nashi homolog, proliferation-associated (Drosophila) LRP8 1p34 low density lipoprotein receptor-related protein 8, apolipoprotein e receptor FLJ40434 1p32.3 hypothetical protein FLJ40434 DMRTB1 1p33 DMRT-like family B with proline-rich C-terminal, 1 FLJ36155 1p32.3 likely ortholog of mouse Gli-similar 1 Kruppel-like zinc finger (Glis1) FLJ10407 1p32.3 hypothetical protein FLJ10407 DJ167A19.1 1p33-p32.1 hypothetical protein DJ167A19.1 DIO1 1p32-p33 deiodinase, iodothyronine, type I LOC51668 1p32.1-p33 HSPCO34 protein MGC8974 1p33-p32.1 hypothetical protein MGC8974 LOC388632 1 similar to heterogeneous nuclear ribonucleoprotein A3 LOC388633 1 similar to Low-density lipoprotein receptor-related protein 2 precursor (Megalin) (Glycoprotein 330) (gp330) C1orf8 1p36-p31 chromosome 1 open reading frame 8 FLJ32112 1p32.3 hypothetical protein FLJ32112 LOC343190 LOC200008 1p32.3 hypothetical protein LOC200008 MRPL37 1p32.1 mitochondrial ribosomal protein L37 SSBP3 1p31.3 single stranded DNA binding protein 3 LOC391041 1 hypothetical gene supported by BC004945 THEA 1p31.3 thioesterase, adipose associated MGC27169  hyporthetical protein MGC27169
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    16 - 2725 58.8 547 - 2008 18465878
  • isoform SCPx, proprotein having both thiolytic and SCP2 activities
  • is also partially, post-translationally cleaved to give a novel 45 kDa protein with thiolytic properties and SCP2 isoform 1
  • 11 - 2150 34.8 322 - 2008 18465878
  • lacking one of the coding exons and containing an alternate 3' terminal exon compared to transcript variant 1, resulting in early transcription termination and a distinct 3' UTR
  • encoding SCPx isoform 2, which has a shorter and a distinct C-terminus compared to SCPx isoform 1
  • 5 - 1428 13.2 143 - 2008 18465878
  • transcription initiation from a downstream promoter, hence lacking multiple 5' exons, compared to transcript variant 1
  • encoding SCP2 isoform 1, identical to the C-terminus of SCPx isoform 1 encoded by transcript variant 1
  • this isoform may be involved in the intracellular transport of sterols and may regulate steroidogenesis
  • 5 - 1419 - 140 - 2008 18465878
  • using an alternate acceptor splice site for one of the coding exons, resulting in SCP2 isoform 2 that is missing 3 internal aa compared to SCP2 isoform 1
  • transcript variant 4 is supported by numerous ESTs, however, the encoded protein is only predicted
  • 4 - 1298 4.5 59 - 2008 18465878
  • lacking a coding exon, resulting in a frameshift and early transcription termination in a downstream exon
  • encoding SCP2 isoform 3, that is shorter with a different C-terminus compared to SCP2 isoform 1
  • this variant is supported by numerous ESTs, however, the encoded protein is only predicted
  • 15 - 2653 - 523 - -
    15 - 2593 - 503 - -
    15 - 2667 - 466 - -
    EXPRESSION
    Type ubiquitous
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   highly
     salivary gland   highly
    Endocrineneuroendocrinepituitary  highly
    Reproductivefemale systemplacenta   
    Urinarybladder   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow  highly
    Connectivebone   
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    not specificfibroblast
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an amino-terminal thiolase domain, and AA 1-32 amphipathic alpha-helical domain (cationic, positively charged face)
  • a carboxy-terminal sterol carrier protein 2 (SCP2) domain
  • isoforms Precursor encoded as a precursor protein (proSCP-2) (Martin 2008) N-terminal presequence in regulating SCP-2 structure, cholesterol localization within the ligand binding site, membrane association, and, potentially, intracellular targeting.
    HOMOLOGY
    interspecies homolog to murine Scp2 (89.2pc)
    homolog to rattus Scp2 (87.7pc)
    Homologene
    FAMILY
  • thiolase family
  • CATEGORY enzyme , transport carrier
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,organelle,peroxisome
    text
  • cytoplasmic in the liver and also associated with mitochondria especially in steroidogenic tissues
  • isoform SCPx resides in the peroxisome
  • basic FUNCTION
  • SCPx isoform is a peroxisomal thiolase cleaving 2-methyl branched chains mediating intracellular cholesterol in steroidogenic tissues
  • facilitates cholesterol (Ch) and phospholipid (PL) transfer/exchange between membranes and appears to play a key role in intracellular lipid trafficking
  • playing a role in intracellular phosphatidylinositol transfer, distribution, and signaling
  • enhances cholesterol retention within the cell as well as regulates the distribution of signaling lipids, such as phosphoinositides and sphingolipids, at plasma membrane caveolae
  • FABP1 and SCP2 facilitate the preferential movement of HDL-associated cholesteryl esters (HDL-CEs) to bile for final elimination
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS cellular trafficking transport
    text sterol carrier
    PATHWAY
    metabolism lipid/lipoprotein
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with CAV1
  • cell & other
    REGULATION
    Other the two promoters can be upregulated by FOXO3A
    ASSOCIATED DISORDERS
    corresponding disease(s) DMN1
    related resource MITOP database
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS