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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SCP2 Gene

protein-coding   GIFtS: 65
GCID: GC01P053392

sterol carrier protein 2
 Explore 29 diseases affiliated with
SCP2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SCP2    

Aliases
for SCP2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
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-Chi1

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


Summaries
for SCP2 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for SCP2:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_032977.9  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for SCP2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for SCP2 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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
Subcellular location: Cytoplasm. Mitochondrion. Note=Cytoplasmic in the liver and also associated with mitochondria
especially in steroidogenic tissues
Subcellular location: Isoform SCPx: Peroxisome. Note=Interaction with PEX5 is essential for peroxisomal import
Subcellular location: Isoform SCP2: Mitochondrion (Probable)
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: B4DHP6 D3DQ37 Q15432 Q16622 Q5VVZ1 Q6NXF4 Q99430
Alternative promoter usage, Alternative splicing: 4 isoforms:  P22307-1   P22307-2   P22307-3   P22307-4   (Produced by alternative splicing. No experimental confirmation available)

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P22307

    • 4/13 DME Specific Peptides for SCP2 (P22307) (see all 13)
     AVEILAQ  AGKEHME  QACVGYV  TGSTALFM 

    SCP2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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
    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Purified Proteins (see all 2): SCP2
    OriGene Protein Over-expression Lysate (see all 2): SCP2
    OriGene Custom Protein Services for SCP2 
    GenScript Custom Purified and Recombinant Proteins Services for SCP2
    Novus Biologicals SCP2 Protein
    Novus Biologicals SCP2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for SCP2

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (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 IDA--


    SCP2 for ontologies           About GeneDecksing



    SCP2 Antibody Products: 
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    Uscn ELISAs and CLIAs for SCP2

    Protein Domains /
    Families
    for SCP2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SCP2 for domains           About GeneDecksing

    5/7 InterPro domains/families (see all 7):
     IPR020616 Thiolase_N
     IPR020617 Thiolase_C
     IPR020613 Thiolase_CS
     IPR016038 Thiolase-like_subgr
     IPR016039 Thiolase-like

    Graphical View of Domain Structure for InterPro Entry P22307

    ProtoNet protein and cluster: P22307

    1 Blocks protein family: 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


    Function
    for SCP2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    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

    miRNA
    Products:            		 OriGene 3'-UTR Clone (see all 5): SCP2
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SCP2
    5 QIAGEN miScript miRNA 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 plasmid: SCP2 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SCP2 (see all 7)
    OriGene shRNA RFP: SCP2
    OriGene siRNA: SCP2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SCP2

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

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SCP2 (see all 10)
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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)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SCP2 

    Cell Line
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    Search LifeMap BioReagents cell lines for SCP2

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SCP2

    Gene Ontology (GO): 5/10 molecular function terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000062fatty-acyl-CoA binding IDA18465878
    GO:0005102receptor binding IPI--
    GO:0005515protein binding IPI15182174
    GO:0008526phosphatidylinositol transporter activity IDA12641450
    GO:0015485cholesterol binding IDA18465878


    SCP2 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-outs for SCP2: Scp2tm1Kier Scp2tm1Usee Scp2tm1Fsch
         6 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Scp2):
     adipose tissue  behavior/neurological  growth/size  homeostasis/metabolism  immune system 
     liver/biliary system 

    SCP2 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for SCP2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/11 super-pathways (see all 11) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Synthesis of bile acids and bile salts
    		Synthesis of bile acids and bile salts1.00
    		Bile acid and bile salt metabolism0.70
    		Primary bile acid biosynthesis0.84
    		bile acid biosynthesis, neutral pathway0.52
    		Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol0.79
    2Metabolism
    		Metabolism1.00
    		Metabolism of lipids and lipoproteins0.34
    		Metabolic pathways0.38
    3Peroxisomal lipid metabolism
    		Peroxisomal lipid metabolism1.00
    		Beta-oxidation of pristanoyl-CoA0.40
    4alpha-linolenic (omega3) and linoleic (omega6) acid metabolism
    		alpha-linolenic (omega3) and linoleic (omega6) acid metabolism1.00
    		alpha-linolenic acid (ALA) metabolism1.00
    5Cholesterol and Sphingolipids transport / Distribution to the intracellular membrane compartments (normal and CF)
    		Cholesterol and Sphingolipids transport / Distribution to the intracellular membrane compartments (normal and CF)1.00

    Pathway sources
    See GeneCards unified pathways
    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)

    3 BioSystems Pathways for SCP2 
        DNA damage response (only ATM dependent)
    bile acid biosynthesis, neutral pathway
    Mitochondrial LC-Fatty Acid Beta-Oxidation

    5/9        Reactome Pathways for SCP2 (see all 9)
        Beta-oxidation of pristanoyl-CoA
    Bile acid and bile salt metabolism
    Metabolism
    Peroxisomal lipid metabolism
    Synthesis of bile acids and bile salts


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


    SCP2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SCP2

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

    5/42 Interacting proteins for SCP2 (P223071, 2, 3 ENSP000003605694) via UniProtKB, MINT, STRING, and/or I2D (see all 42)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PEX14O753812, 3, ENSP000003490164MINT-7996187 I2D: score=1 STRING: ENSP00000349016
    CAV1Q031351, 3, ENSP000003391914EBI-1050999,EBI-603614 I2D: score=6 STRING: ENSP00000339191
    ACAA2P427653, ENSP000002850934I2D: score=2 STRING: ENSP00000285093
    ACOX1Q150673, ENSP000002932174I2D: score=2 STRING: ENSP00000293217
    EPB41P111713, ENSP000002901004I2D: score=1 STRING: ENSP00000290100
    About this table

    Gene Ontology (GO): 5/17 biological process terms (GO ID links to tree view) (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006694steroid biosynthetic process IDA1703300
    GO:0006699bile acid biosynthetic process TAS--
    GO:0006701progesterone biosynthetic process IDA1703300
    GO:0006869lipid transport IEA--
    GO:0007031peroxisome organization IEA--


    SCP2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for SCP2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SCP2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SCP2

    1 HMDB Compound for SCP2    About this table
    CompoundSynonyms CAS #PubMed Ids
    7-Dehydrocholesterol(-)-7-dehydrocholesterol (see all 26)434-16-27121212
    10/26 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about SCP2 / NLTP 

    Transcripts
    for SCP2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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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    5 QIAGEN miScript miRNA 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 plasmid: SCP2 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SCP2 (see all 7)
    OriGene shRNA RFP: SCP2
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 8): SCP2 (NM_002979)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SCP2 
    Primer
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    Browse OriGene validated miRNA SYBR primer pairs
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SCP2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SCP2

    Additional cDNA 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 

    24/27 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 

    24/878 AceView cDNA sequences (see all 878):

    BE501213 BM311307 CB143557 BQ188172 BM770865 AA664009 CA389567 BP358699 
    T29679 BG674811 BF109170 H14631 BG390544 AI810418 CA407896 BM986809 
    AA347697 BF216804 BI861274 BM552173 BX284055 CD679285 BQ877242 BM511625 

    GeneLoc Exon Structure

    5/6 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

    Expression
    for SCP2 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SCP2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TAAGTTTAAT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    SCP2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    TestisSeminiferous TubulesSpermatidGerm Cells, Male Gametocytes
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See SCP2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SCP2

    SOURCE GeneReport for Unigene cluster: Hs.476365

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

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    Orthologs
    for SCP2 gene

    (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)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for SCP2 gene from 7/26 species (see all 26)    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 75.06(n)
    79.89(a)    		   396550  XM_422482.3  XP_422482.3 
    lizard
    (Anolis carolinensis)    		 Reptilia SCP26
    		 --
    		 78(a)
    		 1 ↔ 1
    		 4(114859271-114898140)
    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
    58.29(n)1
    59.62(a)1    		   37B13
    441831  NM_079976.41  NP_524715.21 
    worm
    (Caenorhabditis elegans)    		 Secernentea Y57A10C.63
    daf-221    		 3-keto-acyl-CoA thiolase3
    Protein DAF-221    		 58(a)3
    59.72(n)1
    59.06(a)1    		   II(12423508-12425590)3
    1748811  NM_064238.21  NP_496639.11 


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

    Paralogs
    for SCP2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SCP2 gene
    HSDL22  HSD17B42  SCP2D12  
    3 SIMAP similar genes for SCP2 using alignment to 11 protein entries:     NLTP_HUMAN (see all proteins):
    HSD17B4    SCP2D1    HSDL2

    SCP2 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for SCP2
    PGOHUM00000235268


    Genomic Variants
    for SCP2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2313 NCBI SNPs in SCP2 are shown (see all 2313)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 1 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs756975181,2
    		F,--53390931(+) TGACCA/CTAAGC 5 -- us2k11Minor allele frequency- C:0.03NA 120
    rs15515431,2
    		C,H--53391085(-) TCAAAA/CCATTA 5 -- us2k15Minor allele frequency- C:0.00NS EA NA 420
    rs1821334571,2
    		--53391236(+) TTTTCA/GGTATT 5 -- us2k10--------
    rs1141756441,2
    		F,--53391272(+) TATCCC/ACTCTG 5 -- us2k11Minor allele frequency- A:0.03WA 118
    rs777460091,2
    		--53391280(+) CTGCCC/TTCTAT 5 -- us2k11Minor allele frequency- T:0.01EA 120
    rs1868668581,2
    		--53391401(+) CACCAA/GTCATA 5 -- us2k10--------
    rs2015360941,2
    		C--53391473(+) TGTTTG/TTNNNN 5 -- us2k10--------
    rs1426444761,2
    		--53391484(+) CTTTTC/TTTTTT 5 -- us2k10--------
    rs66870491,2
    		C--53391497(+) ttttgT/Gttcgt 5 -- us2k11Minor allele frequency- G:0.00NA 2
    rs1150429181,2
    		F,--53391542(+) CCCAGG/ACTGGA 5 -- us2k11Minor allele frequency- A:0.21WA 118

    HapMap Linkage Disequilibrium report for SCP2 (53392901 - 53517375 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for SCP2
         2 CNVs: 38181 2306
         1 Indel: 33199
    Human Gene Mutation Database (HGMD): SCP2

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    Disorders / Diseases
    for SCP2 gene

    (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.)
    About This Section
    SCP2 for disorders           About GeneDecksing

    OMIM gene information: 184755   
    OMIM disorders: 613724  
    UniProtKB/Swiss-Prot: NLTP_HUMAN, P22307
  • Defects in SCP2 are a cause of leukoencephalopathy with dystonia and motor neuropathy (LDMN) [MIM:613724];
    • also known as sterol carrier protein 2 deficiency. LDMN is 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

    20/29 diseases for SCP2 (see all 29):    About MalaCards
    d-bifunctional protein deficiency    rhizomelic chondrodysplasia punctata type 1    rhizomelic chondrodysplasia punctata    zellweger syndrome
    chondrodysplasia punctata    fatty acid oxidation disorders    ceroid lipofuscinosis    neuronal ceroid-lipofuscinosis
    lipoid adrenal hyperplasia    leukoencephalopathy with dystonia and motor neuropathy    yellow fever    chondrodysplasia
    adrenal hyperplasia    t cell deficiency    adrenoleukodystrophy    protein s deficiency
    refsum disease    rosacea    macular degeneration    insulin resistance

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

    9 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: SCP2 (7 documents)

    Export disorders for SCP2 gene to outside databases

    Publications
    for SCP2 gene

    (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)
    About This Section

    PubMed articles for SCP2 gene, integrated from 9 sources (see all 191):
    (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 (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. (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. (1992)
    4. Structure-activity studies of human sterol carrier protein 2. (PubMed id 8300590)1, 2, 9 Seedorf U.... Assmann G. (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 (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. (1993)
    7. Regulation of sterol carrier protein gene expression by the forkhead transcription factor FOXO3a. (PubMed id 14563822)1, 2 Dansen T.B....Wirtz K.W. (2004)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    9. Human sterol carrier protein x/sterol carrier protein 2 gene has two promoters. (PubMed id 7654720)1, 9 Ohba T....Strauss J.F. (1995)
    10. Peroxisomal fatty acid oxidation disorders and 58 kDa sterol carrier protein X (SCPx). Activity measurements in liver and fibroblasts using a newly developed method. (PubMed id 10706581)1, 9 Ferdinandusse S....Wanders R.J. (2000)

    External Searches for SCP2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing SCP2 gene

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

    Other Databases showing SCP2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SCP2 gene

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

    Intellectual Property
    for SCP2 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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



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