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Aliases for SCP2 Gene

Aliases for SCP2 Gene

  • Sterol Carrier Protein 2 2 3 4 5
  • Propanoyl-CoA C-Acyltransferase 3 4
  • Sterol Carrier Protein X 3 4
  • EC 2.3.1.176 4 63
  • SCP-CHI 3 4
  • NSL-TP 3 4
  • SCP-2 3 4
  • SCP-X 3 4
  • SCPX 3 4
  • NLTP 3

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 Metabolism and Peroxisome. GO annotations related to this gene include receptor binding and cholesterol binding. An important paralog of this gene is HSD17B4.

UniProtKB/Swiss-Prot for SCP2 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SCP2 Gene

Genomics for SCP2 Gene

Regulatory Elements for SCP2 Gene

Enhancers for SCP2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SCP2 on UCSC Golden Path with GeneCards custom track

Promoters for SCP2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SCP2 on UCSC Golden Path with GeneCards custom track

Genomic Location for SCP2 Gene

Chromosome:
1
Start:
52,927,229 bp from pter
End:
53,051,703 bp from pter
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-NLTP_HUMAN
    Recommended name:
    Non-specific lipid-transfer protein
    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:
    • Interacts with PEX5.
    SequenceCaution:
    • Sequence=AAA03558.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SCP2 Gene

    Alternative splice isoforms for SCP2 Gene

neXtProt entry for SCP2 Gene

Proteomics data for SCP2 Gene at MOPED

Post-translational modifications for SCP2 Gene

  • Ubiquitination at Lys 453
  • Modification sites at PhosphoSitePlus

Domains & Families for SCP2 Gene

Suggested Antigen Peptide Sequences for SCP2 Gene

Graphical View of Domain Structure for InterPro Entry

P22307

UniProtKB/Swiss-Prot:

NLTP_HUMAN :
  • Contains 1 SCP2 domain.
  • In the N-terminal section; belongs to the thiolase family.
Domain:
  • Contains 1 SCP2 domain.
Family:
  • In the N-terminal section; belongs to the thiolase family.
genes like me logo Genes that share domains with SCP2: view

No data available for Gene Families for SCP2 Gene

Function for SCP2 Gene

Molecular function for SCP2 Gene

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
UniProtKB/Swiss-Prot CatalyticActivity:
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.
UniProtKB/Swiss-Prot Function:
Mediates in vitro the transfer of all common phospholipids, cholesterol and gangliosides between membranes. May play a role in regulating steroidogenesis.
UniProtKB/Swiss-Prot Induction:
Up-regulated by 4-hydroxy-tamoxifen.

Enzyme Numbers (IUBMB) for SCP2 Gene

Gene Ontology (GO) - Molecular Function for SCP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0015248 sterol transporter activity IBA --
GO:0015485 cholesterol binding IDA 18465878
GO:0050632 propionyl-CoA C2-trimethyltridecanoyltransferase activity TAS --
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:

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for SCP2 Gene

Localization for SCP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SCP2 Gene

Cytoplasm. Mitochondrion. Note=Cytoplasmic in the liver and also associated with mitochondria especially in steroidogenic tissues.
Isoform SCPx: Peroxisome. Note=Interaction with PEX5 is essential for peroxisomal import.
Isoform SCP2: Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SCP2 Gene COMPARTMENTS Subcellular localization image for SCP2 gene
Compartment Confidence
extracellular 5
nucleus 5
peroxisome 5
mitochondrion 4
cytosol 3
endoplasmic reticulum 2
plasma membrane 2
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for SCP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0070062 extracellular exosome IDA 23376485
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

Gene Ontology (GO) - Biological Process for SCP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006694 steroid biosynthetic process IDA 1703300
GO:0015914 phospholipid transport IDA 12641450
GO:0015918 sterol transport IBA --
GO:0032959 inositol trisphosphate biosynthetic process IDA 12641450
GO:0033559 unsaturated fatty acid metabolic process TAS --
genes like me logo Genes that share ontologies with SCP2: view

No data available for SIGNOR curated interactions for SCP2 Gene

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
Propionyl-CoA Experimental Pharma 0
Coenzyme A Nutra 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
7-dehydrocholesterol
  • (-)-7-dehydrocholesterol
  • (3b)-Cholesta-5,7-dien-3-ol
  • (3beta)-Cholesta-5,7-dien-3-ol
  • 10,13-Dimethyl-17-(6-methylheptan-2-yl)-2,3,4,9,11,12,14,15,16,17-decahydro-1H-cyclopenta[a]phenanthren-3-ol
  • 17-(1,5-Dimethylhexyl)-10,13-dimethyl-2,3,4,9,10,11,12,13,14,15,16,17-dodecahydro-1H-cyclopenta[a]phenanthren-3-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-CoA
  • 3a,7a-Dihydroxy-5b-24-oxocholestanoyl-Coenzyme A
  • 3alpha,7alpha-Dihydroxy-5beta-24-oxocholestanoyl-CoA
  • 3alpha,7alpha-Dihydroxy-5beta-24-oxocholestanoyl-Coenzyme A
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-CoA
  • Choloyl-Coenzyme A
  • Cholyl-CoA
  • Cholyl-Coenzyme A
genes like me logo Genes that share compounds with SCP2: view

Transcripts for SCP2 Gene

Unigene Clusters for SCP2 Gene

Sterol carrier protein 2:
Representative Sequences:

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
ECgene alternative splicing isoforms for
SCP2

Expression for SCP2 Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for SCP2 Gene



SOURCE GeneReport for Unigene cluster for SCP2 Gene Hs.476365

mRNA Expression by UniProt/SwissProt for SCP2 Gene

P22307-NLTP_HUMAN
Tissue specificity: Liver, fibroblasts, and placenta.
genes like me logo Genes that share expression patterns with SCP2: view

Protein tissue co-expression partners for SCP2 Gene

Primer Products

In Situ Assay Products

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
cow
(Bos Taurus)
Mammalia SCP2 35
  • 90.02 (n)
  • 87.57 (a)
SCP2 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SCP2 35
  • 90.42 (n)
  • 88.43 (a)
SCP2 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Scp2 35
  • 86.05 (n)
  • 89.21 (a)
Scp2 16
Scp2 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SCP2 35
  • 99.7 (n)
  • 99.63 (a)
SCP2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Scp2 35
  • 84.46 (n)
  • 86.47 (a)
oppossum
(Monodelphis domestica)
Mammalia SCP2 36
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SCP2 36
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves SCP2 35
  • 74.78 (n)
  • 79.24 (a)
SCP2 36
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SCP2 36
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia scp2 35
  • 72.19 (n)
  • 79.28 (a)
Str.17130 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.24309 35
zebrafish
(Danio rerio)
Actinopterygii scp2a 35
  • 70.22 (n)
  • 76.59 (a)
zgc77634 35
scp2a 36
  • 75 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4325 35
fruit fly
(Drosophila melanogaster)
Insecta CG17597 37
  • 63 (a)
ScpX 37
  • 57 (a)
ScpX 35
  • 58.48 (n)
  • 59.62 (a)
CG17597 36
  • 61 (a)
OneToMany
ScpX 36
  • 58 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007921 35
  • 56.65 (n)
  • 58.94 (a)
worm
(Caenorhabditis elegans)
Secernentea Y57A10C.6 37
  • 58 (a)
daf-22 35
  • 59.8 (n)
  • 59.06 (a)
daf-22 36
  • 55 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FOX2 36
  • 9 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2009 35
bread mold
(Neurospora crassa)
Ascomycetes NCU03372 35
  • 56.15 (n)
  • 55.73 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 61 (a)
OneToMany
CSA.3842 36
  • 60 (a)
OneToMany
Species with no ortholog for SCP2:
  • A. gosspyii yeast (Ashbya 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)

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 from dbSNP and Humsavar for SCP2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
VAR_035706 A breast cancer sample
rs8871 -- 53,051,327(+) TCCTT(A/C)TTGAA utr-variant-3-prime
rs13496 -- 53,051,070(+) ATTCA(A/G)TTTAA utr-variant-3-prime
rs959691 -- 52,931,711(-) aaagc(C/T)tgaag intron-variant
rs768333 -- 52,931,821(-) TTTTC(C/T)TTAGT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv870582 CNV Gain 21882294
nsv870668 CNV Loss 21882294
esv2669916 CNV Deletion 23128226
nsv870947 CNV Loss 21882294
nsv10150 CNV Gain 18304495
nsv441693 CNV CNV 18776908
dgv51e1 CNV Complex 17122850
nsv514927 CNV Complex 21397061
dgv36n67 CNV Loss 20364138
nsv522862 CNV Loss 19592680
essv13816 CNV CNV 17122850

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)

Relevant External Links for SCP2 Gene

HapMap Linkage Disequilibrium report
SCP2
Human Gene Mutation Database (HGMD)
SCP2

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

Disorders for SCP2 Gene

MalaCards: The human disease database

(13) MalaCards diseases for SCP2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
leukoencephalopathy with dystonia and motor neuropathy
  • leukoencephalopathy - dystonia - motor neuropathy
wheat allergy
  • allergy to wheat
yellow fever
  • jungle yellow fever
d-bifunctional protein deficiency
  • 17-beta-hydroxysteroid dehydrogenase iv deficiency
chondrodysplasia punctata, rhizomelic, type 1
  • rhizomelic chondrodysplasia punctata, type 1
- elite association - COSMIC cancer census association via MalaCards
Search SCP2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NLTP_HUMAN
  • 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. {ECO:0000269 PubMed:16685654}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SCP2

Genetic Association Database (GAD)
SCP2
Human Genome Epidemiology (HuGE) Navigator
SCP2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SCP2
genes like me logo Genes that share disorders with SCP2: view

No data available for Genatlas for SCP2 Gene

Publications for SCP2 Gene

  1. Cloning and expression of a cDNA encoding human sterol carrier protein 2. (PMID: 1703300) Yamamoto R. … Strauss J.F. III (Proc. Natl. Acad. Sci. U.S.A. 1991) 2 3 4 23 67
  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. (PMID: 1718316) He Z. … Strauss J.F. III (DNA Cell Biol. 1991) 2 3 23
  3. Structure and function of the sterol carrier protein-2 N-terminal presequence. (PMID: 18465878) Martin G.G. … Schroeder F. (Biochemistry 2008) 3 23
  4. Investigation of the ligand spectrum of human sterol carrier protein 2 using a direct mass spectrometry assay. (PMID: 17418802) Stanley W.A. … Wilmanns M. (Arch. Biochem. Biophys. 2007) 3 23
  5. Sterol carrier protein-2-facilitated intermembrane transfer of cholesterol- and phospholipid-derived hydroperoxides. (PMID: 15449949) Vila A. … Girotti A.W. (Biochemistry 2004) 3 23

Products for SCP2 Gene

Sources for SCP2 Gene

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