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 shar... See more...

Aliases for SCP2 Gene

Aliases for SCP2 Gene

  • Sterol Carrier Protein 2 2 3 4 5
  • Non-Specific Lipid-Transfer Protein 3 4
  • Acetyl-CoA C-Myristoyltransferase 3 4
  • Propanoyl-CoA C-Acyltransferase 3 4
  • Straight-Chain Acyl-CoA Oxidase 3 4
  • SCP-2/3-Oxoacyl-CoA Thiolase 3 4
  • Sterol Carrier Protein X 3 4
  • SCP-2/Thiolase 3 4
  • EC 2.3.1.176 4 50
  • NSL-TP 3 4
  • SCP-2 3 4
  • SCP-X 3 4
  • SCOX 3 4
  • SCPX 3 4
  • Epididymis Secretory Sperm Binding Protein 3
  • EC 2.3.1.155 4
  • EC 2.3.1.16 4
  • SCP-CHI 3
  • SCP-Chi 4
  • NLTP 3
  • SCP2 5

External Ids for SCP2 Gene

Previous GeneCards Identifiers for SCP2 Gene

  • GC01P052944
  • GC01P052282
  • GC01P052751
  • GC01P052762
  • GC01P053105
  • GC01P053165
  • GC01P053392
  • GC01P051508

Summaries for SCP2 Gene

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 Leukoencephalopathy With Dystonia And Motor Neuropathy and Wheat Allergy. Among its related pathways are fatty acid beta-oxidation (peroxisome) and Peroxisome. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and cholesterol binding. An important paralog of this gene is SCP2D1.

UniProtKB/Swiss-Prot Summary for SCP2 Gene

  • [Isoform SCPx]: Plays a crucial role in the peroxisomal oxidation of branched-chain fatty acids (PubMed:10706581). Catalyzes the last step of the peroxisomal beta-oxidation of branched chain fatty acids and the side chain of the bile acid intermediates di- and trihydroxycoprostanic acids (DHCA and THCA) (PubMed:10706581). Also active with medium and long straight chain 3-oxoacyl-CoAs. Stimulates the microsomal conversion of 7-dehydrocholesterol to cholesterol and transfers phosphatidylcholine and 7-dehydrocholesterol between membrances, in vitro (By similarity). Isoforms SCP2 and SCPx cooperate in peroxisomal oxidation of certain naturally occurring tetramethyl-branched fatty acyl-CoAs (By similarity).
  • [Isoform SCP2]: Mediates the transfer of all common phospholipids, cholesterol and gangliosides from the endoplasmic reticulum to the plasma membrane. May play a role in regulating steroidogenesis (PubMed:17157249, PubMed:8300590, PubMed:7642518). Stimulates the microsomal conversion of 7-dehydrocholesterol to cholesterol (By similarity). Also binds fatty acids and fatty acyl Coenzyme A (CoA) such as phytanoyl-CoA. Involved in the regulation phospholipid synthesis in endoplasmic reticulum enhancing the incorporation of exogenous fatty acid into glycerides. Seems to stimulate the rate-limiting step in phosphatidic acid formation mediated by GPAT3. Isoforms SCP2 and SCPx cooperate in peroxisomal oxidation of certain naturally occurring tetramethyl-branched fatty acyl-CoAs (By similarity).

Gene Wiki entry for SCP2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SCP2 Gene

Genomics for SCP2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SCP2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J053014 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 255.6 +88.3 88325 2.8 BCLAF1 SP1 IKZF1 SSRP1 ZNF580 POLR2A CEBPA YY1 CEBPB REST SCP2 HSPB11 PRPF38A SLC1A7 HSALNG0003661 piR-45035-008 MN308945 PODN
GH01J052926 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 +0.5 525 2.4 ZNF600 ZNF580 ZNF592 ZNF10 YY1 NONO TBP ZNF341 ZNF217 KMT2B ECHDC2 ENSG00000264834 SCP2 COA7 SLC1A7 PODN
GH01J052925 Enhancer 0.8 ENCODE 250.7 -1.6 -1606 1 CEBPA ATF3 YY1 HOMEZ KMT2B THAP11 FOXA2 SMAD4 RXRA SAP130 ECHDC2 ENSG00000231866 LOC100652967 SCP2 ZYG11A
GH01J052904 Enhancer 0.9 Ensembl ENCODE 12.4 -21.7 -21675 2.4 ZNF592 ATF3 NFIC YY1 REST CTCF RXRA RAD21 ZBTB33 SMC3 ECHDC2 MAGOH SCP2 TUT4 ENSG00000230953 RPS13P2 GPX7 SLC1A7 piR-56884 HSALNG0003655
GH01J053060 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE CraniofacialAtlas 6.6 +134.7 134725 3.2 CEBPB EZH2 ZNF24 HSALNG0003663 HSALNG0003664 PODN SLC1A7 SCP2 ENSG00000235563 NDC1 TCEANC2 GPX7
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SCP2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SCP2

Top Transcription factor binding sites by QIAGEN in the SCP2 gene promoter:
  • GR
  • GR-alpha
  • GR-beta

Genomic Locations for SCP2 Gene

Latest Assembly
chr1:52,927,276-53,051,698
(GRCh38/hg38)
Size:
124,423 bases
Orientation:
Plus strand

Previous Assembly
chr1:53,392,948-53,517,370
(GRCh37/hg19 by Entrez Gene)
Size:
124,423 bases
Orientation:
Plus strand

chr1:53,392,901-53,517,375
(GRCh37/hg19 by Ensembl)
Size:
124,475 bases
Orientation:
Plus strand

Genomic View for SCP2 Gene

Genes around SCP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SCP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SCP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SCP2 Gene

Proteins for SCP2 Gene

  • Protein details for SCP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P22307-SCP2_HUMAN
    Recommended name:
    Sterol carrier protein 2
    Protein Accession:
    P22307
    Secondary Accessions:
    • A6NM69
    • B4DGJ9
    • B4DHP6
    • C9JC79
    • D3DQ37
    • E1B6W5
    • F2Z3J1
    • Q15432
    • Q16622
    • Q5VVZ1
    • Q6NXF4
    • Q99430

    Protein attributes for SCP2 Gene

    Size:
    547 amino acids
    Molecular mass:
    58994 Da
    Quaternary structure:
    • [Isoform SCP2]: Interacts with PEX5; the interaction is essential for peroxisomal import.
    SequenceCaution:
    • Sequence=AAA03558.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform SCP2]: Contains a putative mitochondrial transit peptide at positions 1-20.
    • [Isoform 4]: Produced by alternative splicing.
    • [Isoform 7]: Produced by alternative splicing.
    • [Isoform 8]: Produced by alternative splicing.

    Three dimensional structures from OCA and Proteopedia for SCP2 Gene

    Alternative splice isoforms for SCP2 Gene

neXtProt entry for SCP2 Gene

Selected DME Specific Peptides for SCP2 Gene

P22307:
  • AVEILAQ
  • GAAAAILASE
  • LRGEAGKRQVPGAKVALQHN
  • RVFVVGVGMTKF
  • AELCWQLRG
  • GNMGLAMKLQ
  • QACVGYV
  • KDGPGGKEATWVVDVKNGKGSV
  • TGSTALFM
  • AGKEHME
  • TGIPIINVNNNC
  • FKEIEKKLEEEGE
  • EHFAKIGWKNHKHSVNN

Post-translational modifications for SCP2 Gene

  • [Isoform SCP2]: preSCP2, a protein with a molecular mass of about 15 kDa, is processed into its mature form (SCP2) by proteolytic cleavage of a 20 residue leader sequence after translocation into peroxisomes.
  • Ubiquitination at Lys453
  • Modification sites at PhosphoSitePlus

Domains & Families for SCP2 Gene

Gene Families for SCP2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for SCP2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ53991, highly similar to Nonspecific lipid-transfer protein (EC 2.3.1.176) (B4DHP6_HUMAN)
  • Sterol carrier protein X (NLTP_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P22307

UniProtKB/Swiss-Prot:

SCP2_HUMAN :
  • In the N-terminal section; belongs to the thiolase-like superfamily. Thiolase family.
Family:
  • In the N-terminal section; belongs to the thiolase-like superfamily. Thiolase family.
genes like me logo Genes that share domains with SCP2: view

Function for SCP2 Gene

Molecular function for SCP2 Gene

UniProtKB/Swiss-Prot Function:
[Isoform SCPx]: Plays a crucial role in the peroxisomal oxidation of branched-chain fatty acids (PubMed:10706581). Catalyzes the last step of the peroxisomal beta-oxidation of branched chain fatty acids and the side chain of the bile acid intermediates di- and trihydroxycoprostanic acids (DHCA and THCA) (PubMed:10706581). Also active with medium and long straight chain 3-oxoacyl-CoAs. Stimulates the microsomal conversion of 7-dehydrocholesterol to cholesterol and transfers phosphatidylcholine and 7-dehydrocholesterol between membrances, in vitro (By similarity). Isoforms SCP2 and SCPx cooperate in peroxisomal oxidation of certain naturally occurring tetramethyl-branched fatty acyl-CoAs (By similarity).
UniProtKB/Swiss-Prot Function:
[Isoform SCP2]: Mediates the transfer of all common phospholipids, cholesterol and gangliosides from the endoplasmic reticulum to the plasma membrane. May play a role in regulating steroidogenesis (PubMed:17157249, PubMed:8300590, PubMed:7642518). Stimulates the microsomal conversion of 7-dehydrocholesterol to cholesterol (By similarity). Also binds fatty acids and fatty acyl Coenzyme A (CoA) such as phytanoyl-CoA. Involved in the regulation phospholipid synthesis in endoplasmic reticulum enhancing the incorporation of exogenous fatty acid into glycerides. Seems to stimulate the rate-limiting step in phosphatidic acid formation mediated by GPAT3. Isoforms SCP2 and SCPx cooperate in peroxisomal oxidation of certain naturally occurring tetramethyl-branched fatty acyl-CoAs (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=choloyl-CoA + propanoyl-CoA = 3alpha,7alpha,12alpha-trihydroxy-24-oxo-5beta-cholestan-26-oyl-CoA + CoA; Xref=Rhea:RHEA:16865, ChEBI:CHEBI:57287, ChEBI:CHEBI:57373, ChEBI:CHEBI:57392, ChEBI:CHEBI:58507; EC=2.3.1.176; Evidence={ECO:0000305|PubMed:10706581};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=acetyl-CoA + an acyl-CoA = a 3-oxoacyl-CoA + CoA; Xref=Rhea:RHEA:21564, ChEBI:CHEBI:57287, ChEBI:CHEBI:57288, ChEBI:CHEBI:58342, ChEBI:CHEBI:90726; EC=2.3.1.16; Evidence={ECO:0000250|UniProtKB:P11915};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=acetyl-CoA + hexanoyl-CoA = 3-oxooctanoyl-CoA + CoA; Xref=Rhea:RHEA:31203, ChEBI:CHEBI:57287, ChEBI:CHEBI:57288, ChEBI:CHEBI:62619, ChEBI:CHEBI:62620; Evidence={ECO:0000250|UniProtKB:P11915};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=acetyl-CoA + tetradecanoyl-CoA = 3-oxohexadecanoyl-CoA + CoA; Xref=Rhea:RHEA:18161, ChEBI:CHEBI:57287, ChEBI:CHEBI:57288, ChEBI:CHEBI:57349, ChEBI:CHEBI:57385; EC=2.3.1.155; Evidence={ECO:0000250|UniProtKB:P11915};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=3-oxohexadecanedioyl-CoA + CoA = acetyl-CoA + tetradecanedioyl-CoA; Xref=Rhea:RHEA:40343, ChEBI:CHEBI:57287, ChEBI:CHEBI:57288, ChEBI:CHEBI:77081, ChEBI:CHEBI:77084; Evidence={ECO:0000250|UniProtKB:P11915};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=propanoyl-CoA + tetradecanoyl-CoA = 3-oxo-2-methylhexadecanoyl-CoA + CoA; Xref=Rhea:RHEA:46344, ChEBI:CHEBI:57287, ChEBI:CHEBI:57385, ChEBI:CHEBI:57392, ChEBI:CHEBI:86042; Evidence={ECO:0000250|UniProtKB:P11915};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=acetyl-CoA + butanoyl-CoA = 3-oxohexanoyl-CoA + CoA; Xref=Rhea:RHEA:31111, ChEBI:CHEBI:57287, ChEBI:CHEBI:57288, ChEBI:CHEBI:57371, ChEBI:CHEBI:62418; Evidence={ECO:0000250|UniProtKB:P11915};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=acetyl-CoA + octanoyl-CoA = 3-oxodecanoyl-CoA + CoA; Xref=Rhea:RHEA:31087, ChEBI:CHEBI:57287, ChEBI:CHEBI:57288, ChEBI:CHEBI:57386, ChEBI:CHEBI:62548; Evidence={ECO:0000250|UniProtKB:P11915};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=acetyl-CoA + decanoyl-CoA = 3-oxododecanoyl-CoA + CoA; Xref=Rhea:RHEA:31183, ChEBI:CHEBI:57287, ChEBI:CHEBI:57288, ChEBI:CHEBI:61430, ChEBI:CHEBI:62615; Evidence={ECO:0000250|UniProtKB:P11915};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=acetyl-CoA + dodecanoyl-CoA = 3-oxotetradecanoyl-CoA + CoA; Xref=Rhea:RHEA:31091, ChEBI:CHEBI:57287, ChEBI:CHEBI:57288, ChEBI:CHEBI:57375, ChEBI:CHEBI:62543; Evidence={ECO:0000250|UniProtKB:P11915};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=acetyl-CoA + hexadecanoyl-CoA = 3-oxooctadecanoyl-CoA + CoA; Xref=Rhea:RHEA:35279, ChEBI:CHEBI:57287, ChEBI:CHEBI:57288, ChEBI:CHEBI:57379, ChEBI:CHEBI:71407; Evidence={ECO:0000250|UniProtKB:P11915};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=3-oxo-(9Z-octadecenoyl)-CoA + CoA = (7Z)-hexadecenoyl-CoA + acetyl-CoA; Xref=Rhea:RHEA:47400, ChEBI:CHEBI:57287, ChEBI:CHEBI:57288, ChEBI:CHEBI:87695, ChEBI:CHEBI:87698; Evidence={ECO:0000250|UniProtKB:P11915};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=cholesta-5,7-dien-3beta-ol(in) = cholesta-5,7-dien-3beta-ol(out); Xref=Rhea:RHEA:62960, ChEBI:CHEBI:17759; Evidence={ECO:0000250|UniProtKB:P11915};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=cholesta-5,7-dien-3beta-ol(in) = cholesta-5,7-dien-3beta-ol(out); Xref=Rhea:RHEA:62960, ChEBI:CHEBI:17759; Evidence={ECO:0000269|PubMed:7642518};.
UniProtKB/Swiss-Prot Induction:
Up-regulated by 4-hydroxy-tamoxifen.
GENATLAS Biochemistry:
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 Numbers (IUBMB) for SCP2 Gene

Gene Ontology (GO) - Molecular Function for SCP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000062 fatty-acyl-CoA binding IDA 18465878
GO:0003824 catalytic activity IEA --
GO:0003988 acetyl-CoA C-acyltransferase activity ISS --
GO:0005102 signaling receptor binding IPI 21375735
GO:0005515 protein binding IPI 15182174
genes like me logo Genes that share ontologies with SCP2: view
genes like me logo Genes that share phenotypes with SCP2: view

Human Phenotype Ontology for SCP2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SCP2 Gene

MGI Knock Outs for SCP2:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SCP2

Clone products for research

  • Addgene plasmids for SCP2

No data available for Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for SCP2 Gene

Localization for SCP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SCP2 Gene

[Isoform SCP2]: Peroxisome. Cytoplasm. Mitochondrion. Endoplasmic reticulum. Mitochondrion.
[Isoform SCPx]: Peroxisome.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SCP2 gene
Compartment Confidence
mitochondrion 5
peroxisome 5
nucleus 5
cytosol 5
endoplasmic reticulum 4
plasma membrane 2
extracellular 2
lysosome 2
cytoskeleton 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Peroxisomes (3)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SCP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA --
GO:0005777 peroxisome IEA,IDA 1347505
GO:0005782 peroxisomal matrix TAS --
genes like me logo Genes that share ontologies with SCP2: view

Pathways & Interactions for SCP2 Gene

genes like me logo Genes that share pathways with SCP2: view

Pathways by source for SCP2 Gene

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

SIGNOR curated interactions for SCP2 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for SCP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006625 protein targeting to peroxisome TAS --
GO:0006635 fatty acid beta-oxidation ISS --
GO:0006694 steroid biosynthetic process IBA 21873635
GO:0006699 bile acid biosynthetic process TAS --
GO:0006701 progesterone biosynthetic process IDA --
genes like me logo Genes that share ontologies with SCP2: view

Drugs & Compounds for SCP2 Gene

(10) Drugs for SCP2 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Propanoyl-CoA Experimental Pharma 0
Coenzyme A Investigational Nutra 0

(22) Additional Compounds for SCP2 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
7-dehydrocholesterol
  • (3beta)-Cholesta-5,7-dien-3-ol
  • 5,7-Cholestadien-3-beta-ol
  • 5,7-Cholestadien-3beta-ol
  • Provitamin D3
  • Cholesta-5,7-dien-3beta-ol
434-16-2
3a,7a,12a-Trihydroxy-5b-24-oxocholestanoyl-CoA
  • (24R,25R)-3-alpha,7-alpha,12-alpha,24-Tetrahydroxy-5-beta-cholestan-26-oyl-CoA
  • (24R,25R)-3-alpha,7-alpha,12-alpha,24-Tetrahydroxy-5-beta-cholestan-26-oyl-coenzyme A
  • 24-oxo-25(R)-Trihydroxycoprostanoyl-CoA
  • 24-oxo-25(R)-Trihydroxycoprostanoyl-coenzyme A
  • 25(R)-24-oxo-3alpha,7alpha,12alpha-Trihydroxycoprostanoyl-CoA
3a,7a-Dihydroxy-5b-24-oxocholestanoyl-CoA
  • 3a,7a-Dihydroxy-5b-24-oxocholestanoyl-coenzyme A
  • 3alpha,7alpha-Dihydroxy-5beta-24-oxocholestanoyl-CoA
  • 3alpha,7alpha-Dihydroxy-5beta-24-oxocholestanoyl-coenzyme A
  • 4-({[({[(2R,3S,4R,5R)-5-(6-amino-9H-purin-9-yl)-4-hydroxy-3-(phosphonooxy)oxolan-2-yl]methoxy}(hydroxy)phosphoryl)oxy](hydroxy)phosphoryl}oxy)-N-(2-{[2-({6-[(2S,5R,7S,9R,15R)-5,9-dihydroxy-2,15-dimethyltetracyclo[8.7.0.0²,⁷.0¹¹,¹⁵]heptadecan-14-yl]-2-methyl-3-oxoheptanoyl}sulfanyl)ethyl]-C-hydroxycarbonimidoyl}ethyl)-2-hydroxy-3,3-dimethylbutanimidate
  • 4-({[({[(2R,3S,4R,5R)-5-(6-amino-9H-purin-9-yl)-4-hydroxy-3-(phosphonooxy)oxolan-2-yl]methoxy}(hydroxy)phosphoryl)oxy](hydroxy)phosphoryl}oxy)-N-(2-{[2-({6-[(2S,5R,7S,9R,15R)-5,9-dihydroxy-2,15-dimethyltetracyclo[8.7.0.0²,⁷.0¹¹,¹⁵]heptadecan-14-yl]-2-methyl-3-oxoheptanoyl}sulphanyl)ethyl]-C-hydroxycarbonimidoyl}ethyl)-2-hydroxy-3,3-dimethylbutanimidate
Chenodeoxycholoyl-CoA
  • 5'-{3-[(3R)-4-{[3-({2-[(3alpha,7alpha-dihydroxy-5beta-cholan-24-oyl)sulfanyl]ethyl}amino)-3-oxopropyl]amino}-3-hydroxy-2,2-dimethyl-4-oxobutyl] dihydrogen diphosphate}3'-phosphoadenosine
  • Chenodeoxycholoyl coenzyme A
60731-52-4
Choloyl-CoA
  • 7-alpha-12-alpha-Dihydroxy-3-oxo-5-beta-cholyl-CoA
  • Choloyl-coenzyme A
  • Cholyl-CoA
  • Cholyl-coenzyme A
genes like me logo Genes that share compounds with SCP2: view

Transcripts for SCP2 Gene

mRNA/cDNA for SCP2 Gene

9 REFSEQ mRNAs :
21 NCBI additional mRNA sequence :
16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SCP2

Clone products for research

  • Addgene plasmids for SCP2

Alternative Splicing Database (ASD) splice patterns (SP) for SCP2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d · 4e ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c · 8d · 8e
SP1: -
SP2: - -
SP3:
SP4: - -
SP5: - - - -
SP6: -

Relevant External Links for SCP2 Gene

GeneLoc Exon Structure for
SCP2

Expression for SCP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SCP2 Gene

mRNA differential expression in normal tissues according to GTEx for SCP2 Gene

This gene is overexpressed in Liver (x7.8).

Protein differential expression in normal tissues from HIPED for SCP2 Gene

This gene is overexpressed in Liver (10.4), Liver, secretome (10.0), and Milk (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SCP2 Gene



Protein tissue co-expression partners for SCP2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SCP2

SOURCE GeneReport for Unigene cluster for SCP2 Gene:

Hs.476365

mRNA Expression by UniProt/SwissProt for SCP2 Gene:

P22307-SCP2_HUMAN
Tissue specificity: Liver, fibroblasts, and placenta.

Evidence on tissue expression from TISSUES for SCP2 Gene

  • Nervous system(5)
  • Liver(4.9)
  • Kidney(4.3)
  • Skin(3.4)
  • Intestine(3.2)
  • Adrenal gland(2.9)
  • Lung(2.8)
  • Gall bladder(2.7)
  • Heart(2.7)
  • Muscle(2.7)
  • Pancreas(2.7)
  • Stomach(2.7)
  • Thyroid gland(2.4)
  • Blood(2.3)
  • Spleen(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SCP2 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • eye
  • head
  • neck
  • olfactory bulb
  • pituitary gland
Thorax:
  • breast
Pelvis:
  • ovary
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vulva
General:
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with SCP2: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for SCP2 Gene

Orthologs for SCP2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SCP2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SCP2 29 30
  • 99.7 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SCP2 29 30
  • 90.42 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SCP2 29 30
  • 90.02 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Scp2 29 16 30
  • 86.05 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Scp2 29
  • 84.46 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia SCP2 30
  • 83 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SCP2 30
  • 70 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SCP2 29 30
  • 74.78 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SCP2 30
  • 79 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia scp2 29
  • 72.19 (n)
Str.17130 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.24309 29
Zebrafish
(Danio rerio)
Actinopterygii scp2a 29 30
  • 70.22 (n)
OneToOne
zgc77634 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4325 29
Fruit Fly
(Drosophila melanogaster)
Insecta CG17597 30 31
  • 61 (a)
OneToMany
ScpX 29 30 31
  • 58.48 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007921 29
  • 56.65 (n)
Worm
(Caenorhabditis elegans)
Secernentea daf-22 29 30
  • 59.8 (n)
OneToOne
Y57A10C.6 31
  • 58 (a)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FOX2 30
  • 9 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 61 (a)
OneToMany
CSA.3842 30
  • 60 (a)
OneToMany
Bread mold
(Neurospora crassa)
Ascomycetes NCU03372 29
  • 56.15 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.2009 29
Species where no ortholog for SCP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for SCP2 Gene

ENSEMBL:
Gene Tree for SCP2 (if available)
TreeFam:
Gene Tree for SCP2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SCP2: view image
Alliance of Genome Resources:
Additional Orthologs for SCP2

Paralogs for SCP2 Gene

Paralogs for SCP2 Gene

Pseudogenes.org Pseudogenes for SCP2 Gene

genes like me logo Genes that share paralogs with SCP2: view

Variants for SCP2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SCP2 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
1018841 Uncertain Significance: not provided 52,974,784(+) A/G
NM_002979.5(SCP2):c.539A>G (p.His180Arg)
MISSENSE
1033966 Pathogenic: Leukoencephalopathy with dystonia and motor neuropathy 53,014,919(+) C/T
NM_002979.5(SCP2):c.1111C>T (p.Gln371Ter)
NONSENSE
1045882 Uncertain Significance: not provided 53,014,956(+) G/C
NM_002979.5(SCP2):c.1148G>C (p.Gly383Ala)
MISSENSE_VARIANT,FIVE_PRIME_UTR
839307 Uncertain Significance: not provided 52,927,451(+) G/C
NM_002979.5(SCP2):c.55G>C (p.Val19Leu)
MISSENSE_VARIANT,FIVE_PRIME_UTR
977231 Uncertain Significance: Leukoencephalopathy with dystonia and motor neuropathy 52,980,456(+) C/T
NM_002979.5(SCP2):c.886C>T (p.Pro296Ser)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SCP2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SCP2 Gene

Variant ID Type Subtype PubMed ID
dgv36n67 CNV loss 20364138
esv2669916 CNV deletion 23128226
esv2758935 CNV loss 17122850
esv2764252 CNV loss 21179565
esv3561937 CNV deletion 23714750
esv3586059 CNV loss 21293372
esv3586060 CNV loss 21293372
esv3586061 CNV loss 21293372
nsv1001535 CNV gain 25217958
nsv1010121 CNV gain 25217958
nsv10150 CNV gain 18304495
nsv1160847 CNV deletion 26073780
nsv1160854 OTHER complex 26073780
nsv441693 CNV loss 18776908
nsv478841 CNV novel sequence insertion 20440878
nsv514927 CNV gain 21397061
nsv522862 CNV loss 19592680
nsv945951 CNV duplication 23825009
nsv945952 CNV duplication 23825009
nsv945953 CNV duplication 23825009

Variation tolerance for SCP2 Gene

Residual Variation Intolerance Score: 13.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.54; 11.63% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SCP2 Gene

Human Gene Mutation Database (HGMD)
SCP2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SCP2
Leiden Open Variation Database (LOVD)
SCP2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SCP2 Gene

Disorders for SCP2 Gene

MalaCards: The human disease database

(34) MalaCards diseases for SCP2 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
leukoencephalopathy with dystonia and motor neuropathy
  • lkdmn
wheat allergy
  • allergy to wheat
rhizomelic chondrodysplasia punctata, type 1
  • rcdp1
yellow fever
  • jungle yellow fever
peach allergy
  • prunus persica fruit allergy
- elite association - COSMIC cancer census association via MalaCards
Search SCP2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SCP2_HUMAN
  • Leukoencephalopathy with dystonia and motor neuropathy (LKDMN) [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. {ECO:0000269 PubMed:16685654}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Note=Expression at protein level is almost abolished in Zellweger syndrome. Cholesterol transfer from the endoplasmic reticulum to the plasma membrane was reduced in patient fibroblasts compared to controls. {ECO:0000269 PubMed:7642518}.

Additional Disease Information for SCP2

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SCP2: view

No data available for Genatlas for SCP2 Gene

Publications for SCP2 Gene

  1. 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. (PMID: 1718316) He Z … Strauss JF (DNA and cell biology 1991) 2 3 4 22
  2. Cloning and expression of a cDNA encoding human sterol carrier protein 2. (PMID: 1703300) Yamamoto R … Strauss JF (Proceedings of the National Academy of Sciences of the United States of America 1991) 2 3 4 22
  3. Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy. (PMID: 16685654) Ferdinandusse S … Marziniak M (American journal of human genetics 2006) 4 22 72
  4. Peroxisomal fatty acid oxidation disorders and 58 kDa sterol carrier protein X (SCPx). Activity measurements in liver and fibroblasts using a newly developed method. (PMID: 10706581) Ferdinandusse S … Wanders RJ (Journal of lipid research 2000) 3 4 22
  5. The structure of the human sterol carrier protein X/sterol carrier protein 2 gene (SCP2). (PMID: 7698762) Ohba T … Strauss JF (Genomics 1994) 3 4 22

Products for SCP2 Gene

Sources for SCP2 Gene