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SCP2 Gene

protein-coding   GIFtS: 67
GCID: GC01P053392

Sterol Carrier Protein 2

  See SCP2-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Sterol Carrier Protein 21 2 3     SCPX2 3
Propanoyl-CoA C-Acyltransferase2 3     EC 2.3.1.1763 8
Sterol Carrier Protein X2 3     NLTP2
NSL-TP2 3     SCP-CHI2
SCP-22 3     Non-Specific Lipid-Transfer Protein2
SCP-X2 3     SCP-chi3

External Ids:    HGNC: 106061   Entrez Gene: 63422   Ensembl: ENSG000001161717   OMIM: 1847555   UniProtKB: P223073   

Export aliases for SCP2 gene to outside databases

Previous GC identifers: GC01P052944 GC01P052282 GC01P052751 GC01P052762 GC01P053105 GC01P053165 GC01P051508


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SCP2 Gene:
This gene encodes two proteins: sterol carrier protein X (SCPx) and sterol carrier protein 2 (SCP2), as a result
of transcription initiation from 2 independently regulated promoters. The transcript initiated from the proximal
promoter encodes the longer SCPx protein, and the transcript initiated from the distal promoter encodes the
shorter SCP2 protein, with the 2 proteins sharing a common C-terminus. Evidence suggests that the SCPx protein is
a peroxisome-associated thiolase that is involved in the oxidation of branched chain fatty acids, while the SCP2
protein is thought to be an intracellular lipid transfer protein. This gene is highly expressed in organs
involved in lipid metabolism, and may play a role in Zellweger syndrome, in which cells are deficient in
peroxisomes and have impaired bile acid synthesis. Alternative splicing of this gene produces multiple transcript
variants, some encoding different isoforms.(provided by RefSeq, Aug 2010)

GeneCards Summary for SCP2 Gene:
SCP2 (sterol carrier protein 2) is a protein-coding gene. Diseases associated with SCP2 include yellow fever, and leukoencephalopathy with dystonia and motor neuropathy. GO annotations related to this gene include fatty-acyl-CoA binding and receptor binding. An important paralog of this gene is HSD17B4.

UniProtKB/Swiss-Prot: NLTP_HUMAN, P22307
Function: Mediates in vitro the transfer of all common phospholipids, cholesterol and gangliosides between
membranes. May play a role in regulating steroidogenesis

Gene Wiki entry for SCP2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NT_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SCP2 gene promoter:
         GR   GR-beta   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): SCP2 promoter sequence
   Search Chromatin IP Primers for SCP2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SCP2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p32   Ensembl cytogenetic band:  1p32.3   HGNC cytogenetic band: 1p32

SCP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SCP2 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P053392:  view genomic region     (about GC identifiers)

Start:
53,392,901 bp from pter      End:
53,517,375 bp from pter
Size:
124,475 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: NLTP_HUMAN, P22307 (See protein sequence)
Recommended Name: Non-specific lipid-transfer protein  
Size: 547 amino acids; 58994 Da
Subunit: Interacts with PEX5
Sequence caution: Sequence=AAA03558.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
2 PDB 3D structures from and Proteopedia for SCP2:
1QND (3D)        2C0L (3D)    
Secondary accessions: A6NM69 B4DGJ9 B4DHP6 C9JC79 D3DQ37 E1B6W5 F2Z3J1 Q15432 Q16622 Q5VVZ1
Q6NXF4 Q99430
Alternative promoter usage, Alternative splicing: 8 isoforms:  P22307-1   P22307-2   P22307-3   P22307-4   P22307-5   P22307-6   P22307-7   P22307-8   
(Produced by alternative splicing)

Explore the universe of human proteins at neXtProt for SCP2: NX_P22307

Explore proteomics data for SCP2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys453
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for SCP2 (P22307) (see all 13)
     AVEILAQ  AGKEHME  QACVGYV  TGSTALFM 


    See SCP2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (8 alternative transcripts): 
    NP_001007099.1  NP_001007100.1  NP_001007101.1  NP_001007251.1  NP_001180528.1  NP_001180529.1  NP_001180546.1  NP_002970.2  

    ENSEMBL proteins: 
     ENSP00000360569   ENSP00000435194   ENSP00000434132   ENSP00000360564   ENSP00000384569  
     ENSP00000360568   ENSP00000431279   ENSP00000406636   ENSP00000437317   ENSP00000432645  
     ENSP00000436581   ENSP00000396413   ENSP00000435783   ENSP00000386214  
    Reactome Protein details: P22307

    SCP2 Human Recombinant Protein Products:

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    OriGene MassSpec for SCP2
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    GenScript Custom Purified and Recombinant Proteins Services for SCP2
    Novus Biologicals SCP2 Protein
    Novus Biologicals SCP2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for SCP2

     
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    SCP2 Antibody Products:

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    Abcam antibodies for SCP2 (Q9BX26, P22307)
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    ThermoFisher Antibodies for SCP2
    LSBio Antibodies in human, mouse, rat for SCP2

    SCP2 Assay Products:

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    Cloud-Clone Corp. ELISAs for SCP2
    Cloud-Clone Corp. CLIAs for SCP2
    Search eBioscience for ELISAs for SCP2 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 7):
     IPR020613 Thiolase_CS
     IPR016038 Thiolase-like_subgr
     IPR020615 Thiolase_acyl_enz_int_AS
     IPR020616 Thiolase_N
     IPR020617 Thiolase_C

    Graphical View of Domain Structure for InterPro Entry P22307

    ProtoNet protein and cluster: P22307

    1 Blocks protein domain: IPB003033 Sterol-binding

    UniProtKB/Swiss-Prot: NLTP_HUMAN, P22307
    Similarity: In the N-terminal section; belongs to the thiolase family
    Similarity: Contains 1 SCP2 domain


    Find genes that share domains with SCP2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NLTP_HUMAN, P22307
    Function: Mediates in vitro the transfer of all common phospholipids, cholesterol and gangliosides between
    membranes. May play a role in regulating steroidogenesis
    Catalytic activity: 3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholanoyl-CoA + propanoyl-CoA = CoA +
    3-alpha,7-alpha,12-alpha-trihydroxy-24-oxo-5-beta-cholestanoyl-CoA
    Induction: Up-regulated by 4-hydroxy-tamoxifen

         Genatlas biochemistry entry for SCP2:
    sterol carrier protein X (58kDa) peroxisomal thiolase cleaving 2-methyl branched chains and sterol carrier protein
    2 (15.3kDa),an alternative transcript within the C terminal part of SCPX,potentially involved in intracellular
    lipid transport

         Enzyme Number (IUBMB): EC 2.3.1.1761 2

         Gene Ontology (GO): Selected molecular function terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000062fatty-acyl-CoA binding IDA18465878
    GO:0003824catalytic activity ----
    GO:00043153-oxoacyl-[acyl-carrier-protein] synthase activity ----
    GO:0005102receptor binding IPI--
    GO:0005515protein binding IPI15182174
         
    Find genes that share ontologies with SCP2           About GenesLikeMe


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Scp2):
     adipose tissue  behavior/neurological  growth/size/body  homeostasis/metabolism  immune system 
     liver/biliary system 

    Find genes that share phenotypes with SCP2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for SCP2: Scp2tm1Kier Scp2tm1Usee Scp2tm1Fsch

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SCP2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SCP2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SCP2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SCP2

    miRNA
    Products:
        
    miRTarBase miRNAs that target SCP2:
    hsa-mir-26b-5p (MIRT030161), hsa-mir-1260b (MIRT052762), hsa-mir-769-5p (MIRT016091)

    Block miRNA regulation of human, mouse, rat SCP2 using miScript Target Protectors
    5 qRT-PCR Assays for microRNAs that regulate SCP2:
    hsa-miR-1290 hsa-miR-29a* hsa-miR-590-3p hsa-miR-500a hsa-miR-150
    SwitchGear 3'UTR luciferase reporter plasmidSCP2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SCP2
    Predesigned siRNA for gene silencing in human, mouse, rat SCP2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for SCP2

    Clone
    Products:
         
    OriGene clones in human, mouse for SCP2 (see all 37)
    OriGene ORF clones in mouse, rat for SCP2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 8): SCP2 (NM_002979)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SCP2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SCP2
    Addgene plasmids for SCP2 

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for SCP2 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SCP2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    NLTP_HUMAN, P22307: Cytoplasm. Mitochondrion. Note=Cytoplasmic in the liver and also associated with
    mitochondria especially in steroidogenic tissues
    NLTP_HUMAN, P22307: Isoform SCPx: Peroxisome. Note=Interaction with PEX5 is essential for peroxisomal import
    NLTP_HUMAN, P22307: Isoform SCP2: Mitochondrion (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    peroxisome5
    nucleus4
    cytosol2
    endoplasmic reticulum2
    plasma membrane2
    extracellular1
    lysosome1
    vacuole1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005739mitochondrion IEA--
    GO:0005777peroxisome IDA1347505

    Find genes that share ontologies with SCP2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for SCP2 About   (see all 12)  
    See pathways by source

    SuperPathContained pathways About
    1Synthesis of bile acids and bile salts
    Synthesis of bile acids and bile salts0.88
    bile acid biosynthesis, neutral pathway0.48
    Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol0.88
    Primary bile acid biosynthesis0.00
    Bile acid and bile salt metabolism0.73
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38
    3PPAR signaling pathway
    fatty acid beta-oxidation VI (peroxisome)0.00
    PPAR signaling pathway
    4Peroxisomal lipid metabolism
    Peroxisomal lipid metabolism
    Beta-oxidation of pristanoyl-CoA0.00
    5alpha-linolenic (omega3) and linoleic (omega6) acid metabolism
    alpha-linolenic (omega3) and linoleic (omega6) acid metabolism
    alpha-linolenic acid (ALA) metabolism0.00


    Find genes that share SuperPaths with SCP2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 GeneGo (Thomson Reuters) Pathways for SCP2
        Cholesterol and Sphingolipids transport / Transport from Golgi and ER to the apical membrane (normal and CF)
    Cholesterol and Sphingolipids transport / Recycling to plasma membrane in lung (normal and CF)
    Cholesterol and Sphingolipids transport / Distribution to the intracellular membrane compartments (normal and CF)

    5 BioSystems Pathways for SCP2
        DNA damage response (only ATM dependent)
    bile acid biosynthesis, neutral pathway
    fatty acid beta-oxidation VI (peroxisome)
    fatty acid beta-oxidation I
    Mitochondrial LC-Fatty Acid Beta-Oxidation

    3 Reactome Pathways for SCP2
        Beta-oxidation of pristanoyl-CoA
    Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol
    alpha-linolenic acid (ALA) metabolism


    4 Kegg Pathways  (Kegg details for SCP2):
        Primary bile acid biosynthesis
    Metabolic pathways
    PPAR signaling pathway
    Peroxisome

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SCP2
    Interactions:

        GeneGlobe Interaction Network for SCP2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for SCP2 (P223071, 2, 3 ENSP000003605694) via UniProtKB, MINT, STRING, and/or I2D (see all 51)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CAV1Q031351, 3, ENSP000003391914EBI-1050999,EBI-603614 I2D: score=6 STRING: ENSP00000339191
    PEX14O753812, 3, ENSP000003490164MINT-7996187 I2D: score=1 STRING: ENSP00000349016
    ACAA2P427653, ENSP000002850934I2D: score=2 STRING: ENSP00000285093
    ACOX1Q150673, ENSP000002932174I2D: score=2 STRING: ENSP00000293217
    EHHADHQ084263, ENSP000002318874I2D: score=1 STRING: ENSP00000231887
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 19):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006633fatty acid biosynthetic process ----
    GO:0006694steroid biosynthetic process IDA1703300
    GO:0006699bile acid biosynthetic process TAS--
    GO:0006701progesterone biosynthetic process IDA1703300
    GO:0006869lipid transport IEA--

    Find genes that share ontologies with SCP2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SCP2 (NLTP)

    1 HMDB Compound for SCP2    About this table
    CompoundSynonyms CAS #PubMed Ids
    7-Dehydrocholesterol(-)-7-dehydrocholesterol (see all 26)434-16-27121212

    Selected Novoseek inferred chemical compound relationships for SCP2 gene (see all 26)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    sterol 92.3 396 12356316 (6), 10954705 (5), 7788802 (5), 11371213 (5) (see all 99)
    dehydroergosterol 78 6 8577222 (3), 12456684 (1)
    3-oxoacyl-coa 75 1 8063752 (1)
    pristanic acid 74.8 2 9803880 (1)
    allergens 69.8 17 15480332 (3), 20085601 (2), 19733242 (1), 16536621 (1) (see all 10)
    acyl-coa 69.6 21 1586963 (2), 10821425 (2), 9857175 (2), 11330072 (1) (see all 12)
    7-dehydrocholesterol 66.4 8 8547181 (1), 8300590 (1), 1392631 (1), 8063752 (1)
    cholesterol 64.1 171 10585412 (7), 8847489 (6), 11371213 (6), 8577222 (6) (see all 46)
    lipid 63.1 108 11333258 (6), 17680294 (4), 11371213 (4), 14661971 (3) (see all 39)
    fatty acid 62.2 68 12479573 (5), 12810824 (4), 9397406 (3), 11003606 (2) (see all 20)



    Find genes that share compounds with SCP2           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for SCP2 gene (8 alternative transcripts): 
    NM_001007098.2  NM_001007099.2  NM_001007100.2  NM_001007250.2  NM_001193599.1  NM_001193600.1  NM_001193617.1  NM_002979.4  

    Unigene Cluster for SCP2:

    Sterol carrier protein 2
    Hs.476365  [show with all ESTs]
    Unigene Representative Sequence: BX537619
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000371514(uc001cur.2 uc010ono.2 uc010onp.2 uc009vzi.2 uc001cut.2 uc001cuu.2)
    ENST00000478631(uc001cuq.2 uc001cus.2) ENST00000528311 ENST00000371509
    ENST00000407246 ENST00000371513 ENST00000528809 ENST00000529363 ENST00000473584
    ENST00000430330 ENST00000478274 ENST00000484100 ENST00000533119 ENST00000435345
    ENST00000488965(uc010onq.1) ENST00000408941
    miRNA
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    hsa-miR-1290 hsa-miR-29a* hsa-miR-590-3p hsa-miR-500a hsa-miR-150
    SwitchGear 3'UTR luciferase reporter plasmidSCP2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat SCP2
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 8): SCP2 (NM_002979)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SCP2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SCP2
    Addgene plasmids for SCP2 
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SCP2
      QuantiTect SYBR Green Assays in human, mouse, rat SCP2
      QuantiFast Probe-based Assays in human, mouse, rat SCP2

    Additional mRNA sequence: 

    AK126767.1 AK294631.1 AK295214.1 AK303400.1 AK308105.1 AK312856.1 BC005911.1 BC067108.1 
    BX537618.1 BX537619.1 M55421.1 M75883.1 M75884.1 S52450.1 

    Selected DOTS entries (see all 27):

    DT.92469598  DT.92469615  DT.91918039  DT.92469619  DT.95283252  DT.40207316  DT.97767437  DT.95161360 
    DT.100877680  DT.100818144  DT.100877676  DT.100877678  DT.120694456  DT.92469511  DT.92469516  DT.92469522 
    DT.95270691  DT.101975996  DT.95141098  DT.95270692  DT.97796085  DT.100877682  DT.100877684  DT.121368777 

    Selected AceView cDNA sequences (see all 878):

    AI753450 BG054691 BM464895 BU619039 BI861274 BG259785 BG180756 BQ014192 
    AW611897 CA424156 BQ008197 CR618704 CB146315 BG031305 BU627147 BM311307 
    AV709586 AI640146 BM968746 CA389567 BM264576 AI810418 BF216804 BQ009270 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SCP2 (see all 6)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d · 4e ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c · 8d · 8e
    SP1:                                                                          -                                 
    SP2:                                                  -                       -                                 
    SP3:                                                                                                            
    SP4:                                                              -           -                                 
    SP5:                                                  -     -     -           -                                 


    ECgene alternative splicing isoforms for SCP2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SCP2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAAGTTTAAT
    SCP2 Expression
    About this image


    SCP2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 21) fully expand
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             Leydig Cells Testis Interstitium
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Ovary (Reproductive System)
             Oviduct
     
     Gonad
             Spermatid Seminiferous Tubules
     
     Blood (Hematopoietic System)
             Granulocytes Peripheral Blood
    SCP2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SCP2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.476365

    UniProtKB/Swiss-Prot: NLTP_HUMAN, P22307
    Tissue specificity: Liver, fibroblasts, and placenta

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for SCP2 gene from Selected species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Scp21 , 5 sterol carrier protein 2, liver1, 5 86.05(n)1
    89.21(a)1
      4 (50.20 cM)5
    202801  NM_011327.41  NP_035457.11 
     1080438395 
    chicken
    (Gallus gallus)
    Aves SCP21 sterol carrier protein 2 74.78(n)
    79.24(a)
      396550  XM_422482.4  XP_422482.4 
    lizard
    (Anolis carolinensis)
    Reptilia SCP26
    sterol carrier protein 2
    79(a)
    1 ↔ 1
    4(114859131-114902273)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.243092 Xenopus laevis transcribed sequence with moderate similarity more 80.98(n)    BJ622737.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc776342 hypothetical protein MGC77634 77.05(n)   393839  BC063230.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG175973
    ScpX1
    acetyl-CoA C-acyltransferase3
    Sterol carrier protein X-related thiolase1
    63(a)
    (best of 2)3
    58.48(n)1
    59.62(a)1
      37B13
    441831  NM_079976.51  NP_524715.21 
    worm
    (Caenorhabditis elegans)
    Secernentea Y57A10C.63
    daf-221
    3-keto-acyl-CoA thiolase3
    daf-221
    58(a)3
    59.8(n)1
    59.06(a)1
      II(12423508-12425590)3
    1748811  NM_064238.31  NP_496639.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes FOX26
    Multifunctional enzyme of the peroxisomal fatty ac...
    9(a)
    1 → many
    XI(454352-457054) YKR009C


    ENSEMBL Gene Tree for SCP2 (if available)
    TreeFam Gene Tree for SCP2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SCP2 gene
    HSD17B42  SCP2D12  

    Find genes that share paralogs with SCP2           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for SCP2
    PGOHUM00000235268


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SCP2 (see all 2647)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0357064
    A breast cancer sample4--see VAR_0357062 A D mis40--------
    rs720641351,2
    C--53391480(+) TTTTT-/TT    
       TTTTT
    GTTTC
    5 -- us2k10--------
    rs710444431,2
    C--53401260(-) TTTTCT/-TTTTT 5 -- int11Minor allele frequency- -:0.00NA 2
    rs716789991,2
    C--53408288(+) TTTTT-/TGCCAT 5 -- int10--------
    rs1479395611,2
    C--53408366(+) CAGGT-/TTTTTT 5 -- int10--------
    rs1135604701,2
    C,F--53408496(+) CCTCCC/TGAGTA 5 -- int11Minor allele frequency- T:0.50CSA 2
    rs559923541,2
    C--53412914(+) AAAAAA/-GAATG 5 -- int11Minor allele frequency- -:0.00NA 2
    rs669909661,2
    C--53414620(+) TTTTGT/-TTTTT 5 -- int11Minor allele frequency- -:0.00NA 2
    rs594571141,2
    C--53421646(+) AAAAA-/ACTAAA 5 -- int10--------
    rs1418924671,2
    C--53422870(+) CCACT-/GCCCCT
    GGCCCCTG
    GCCCC
    5 -- int10--------

    HapMap Linkage Disequilibrium report for SCP2 (53392901 - 53517375 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for SCP2 (see all 11):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2669916CNV Deletion23128226
    nsv522862CNV Loss19592680
    nsv870947CNV Loss21882294
    dgv36n67CNV Loss20364138
    nsv870668CNV Loss21882294
    nsv10150CNV Gain18304495
    nsv870582CNV Gain21882294
    nsv441693CNV CNV18776908
    essv13816CNV CNV17122850
    dgv51e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): SCP2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SCP2
    DNA2.0 Custom Variant and Variant Library Synthesis for SCP2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 184755   
    OMIM disorders: 613724  
    UniProtKB/Swiss-Prot: NLTP_HUMAN, P22307
  • Leukoencephalopathy, with dystonia and motor neuropathy (LDMN) [MIM:613724]: A syndrome characterized by
    leukoencephalopathy, dystonic head tremor, spasmodic torticollis and reduced tendon reflexes in lower
    extremities. Additional features include hyposmia, pathologic saccadic eye movements, a slight hypoacusis,
    accumulation of branched-chain pristanic acid in plasma, and the presence of abnormal bile alcohol glucuronides
    in urine. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 7 diseases for SCP2:    
    About MalaCards
    yellow fever    leukoencephalopathy with dystonia and motor neuropathy    lipoid adrenal hyperplasia    d-bifunctional protein deficiency
    rhizomelic chondrodysplasia punctata    fatty acid oxidation disorders    adrenoleukodystrophy

    4 diseases from the University of Copenhagen DISEASES database for SCP2:
    Hypersensitivity reaction type I disease     Zellweger syndrome     Rhizomelic chondrodysplasia punctata     Adrenoleukodystrophy

    Find genes that share disorders with SCP2           About GenesLikeMe

    9 Novoseek inferred disease relationships for SCP2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    rhizomelic chondrodysplasia punctata, type 1 82.6 4 11734571 (1), 15060085 (1)
    d-bifunctional protein deficiency 75.4 8 11734571 (1), 15060085 (1)
    zellweger syndrome 74.9 8 10706581 (2), 2085845 (1), 8006511 (1), 7642518 (1)
    adrenoleukodystrophy neonatal 69.3 1 2085845 (1)
    allergy 56.9 7 12757453 (2), 16890775 (1), 11476467 (1), 16950292 (1)
    allergy food 55.4 1 19624524 (1)
    adrenoleukodystrophy 52 5 2085845 (1), 11734571 (1), 15060085 (1)
    yellow fever 24.5 2 12542635 (1), 12855689 (1)
    fatty liver 23.6 5 7547928 (1), 8895052 (1), 12518025 (1)

    Genetic Association Database (GAD): SCP2
    Human Genome Epidemiology (HuGE) Navigator: SCP2 (7 documents)

    Export disorders for SCP2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for SCP2 gene, integrated from 10 sources (see all 193):
    (articles sorted by number of sources associating them with SCP2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and expression of a cDNA encoding human sterol carrier protein 2. (PubMed id 1703300)1, 2, 3, 9 Yamamoto R....Strauss J.F. III (Proc. Natl. Acad. Sci. U.S.A. 1991)
    2. cDNAs encoding members of a family of proteins related to human sterol carrier protein 2 and assignment of the gene to human chromosome 1 p21-pter. (PubMed id 1718316)1, 2, 3, 9 He Z.... Strauss J.F. III (DNA Cell Biol. 1991)
    3. Localization of human sterol carrier protein 2 gene and cDNA expression in COS-7 cell. (PubMed id 1483685)1, 2, 9 Yamamoto R. (Hokkaido Igaku Zasshi 1992)
    4. Structure-activity studies of human sterol carrier protein 2. (PubMed id 8300590)1, 2, 9 Seedorf U.... Assmann G. (J. Biol. Chem. 1994)
    5. The structure of the human sterol carrier protein X/sterol carrier protein 2 gene (SCP2). (PubMed id 7698762)1, 2, 9 Ohba T.... Strauss J.F. III (Genomics 1994)
    6. NMR determination of the secondary structure and the three- dimensional polypeptide backbone fold of the human sterol carrier protein 2. (PubMed id 8243660)1, 2, 9 Szyperski T....Wuethrich K. (FEBS Lett. 1993)
    7. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    8. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    9. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PubMed id 20677014)1, 4 Shimada M....Tokunaga K. (Hum. Genet. 2010)
    10. Genes related to sex steroids, neural growth, and social-emotional behavior are associated with autistic traits, empathy, and Asperger syndrome. (PubMed id 19598235)1, 4 Chakrabarti B....Baron-Cohen S. (Autism Res 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 6342 HGNC: 10606 AceView: SCP2 Ensembl:ENSG00000116171 euGenes: HUgn6342
    ECgene: SCP2 Kegg: 6342 H-InvDB: SCP2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SCP2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SCP2 gene:
    Search GeneIP for patents involving SCP2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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