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
  • Propanoyl-CoA C-Acyltransferase 3 4
  • Sterol Carrier Protein X 3 4
  • EC 2.3.1.176 4 51
  • NSL-TP 3 4
  • SCP-2 3 4
  • SCP-X 3 4
  • SCPX 3 4
  • Epididymis Secretory Sperm Binding Protein 3
  • 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 Synthesis of bile acids and bile salts and alpha-linolenic (omega3) and linoleic (omega6) acid metabolism. 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

  • 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 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 605.6 +88.4 88372 2.8 SP1 GATAD2A PRDM10 TFE3 IKZF1 NFKBIZ ZNF692 POLR2A ZHX2 JUND SCP2 HSPB11 PRPF38A SLC1A7 piR-52794-001 piR-45035-008 MN308945 PODN
GH01J052926 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 +0.5 472 2.6 GATAD2A REST TFE3 NFKBIZ ZNF7 BACH1 TARDBP MTA2 RBFOX2 POLR2A ECHDC2 ENSG00000264834 SCP2 COA7 SLC1A7 PODN
GH01J052925 Enhancer 0.8 ENCODE 600.7 -1.6 -1559 1 RNF2 GATAD2A REST TFE3 RCOR2 RXRB IRF2 SP1 GABPA CEBPA ECHDC2 ENSG00000231866 LOC100652967 SCP2 ZYG11A
GH01J052904 Enhancer 0.9 Ensembl ENCODE 12.4 -21.6 -21637 2.4 CTCF REST TFE3 RAD21 SP1 BRD9 RUNX3 HDGF USF1 ATF3 ECHDC2 MAGOH SCP2 TUT4 ENSG00000230953 RPS13P2 GPX7 SLC1A7 piR-56884 lnc-SCP2-2
GH01J053060 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE CraniofacialAtlas 6.6 +134.9 134923 3.3 ZNF24 EZH2 CTCF CEBPB PODN SLC1A7 SCP2 ENSG00000235563 TCEANC2 NDC1 GPX7 hsa-miR-5095-018
- 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

Genomic Locations for SCP2 Gene
chr1:52,927,229-53,051,698
(GRCh38/hg38)
Size:
124,470 bases
Orientation:
Plus strand
chr1:53,392,901-53,517,375
(GRCh37/hg19)
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=Truncated N-terminus.; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform SCP2]: Contains a 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

  • 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

Protein Domains for SCP2 Gene

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:

NLTP_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:
Mediates in vitro the transfer of all common phospholipids, cholesterol and gangliosides between membranes. May play a role in regulating steroidogenesis.
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;.
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:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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

Clone Products

  • 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

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
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
peroxisome 5
nucleus 5
cytosol 5
mitochondrion 4
plasma membrane 2
extracellular 2
endoplasmic reticulum 2
lysosome 2
cytoskeleton 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

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:0006869 lipid transport IEA --
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
  • (3b)-Cholesta-5,7-dien-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-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-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 :

CRISPR Products

Inhibitory RNA Products

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

Clone Products

  • 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-NLTP_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(3.5)
  • Intestine(3.3)
  • Adrenal gland(3)
  • Lung(2.9)
  • Pancreas(2.9)
  • Gall bladder(2.8)
  • Heart(2.8)
  • Muscle(2.8)
  • Stomach(2.7)
  • Blood(2.5)
  • Thyroid gland(2.4)
  • Spleen(2.3)

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

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 30 31
  • 99.7 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SCP2 30 31
  • 90.42 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SCP2 30 31
  • 90.02 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Scp2 30 17 31
  • 86.05 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Scp2 30
  • 84.46 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia SCP2 31
  • 83 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SCP2 31
  • 70 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SCP2 30 31
  • 74.78 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SCP2 31
  • 79 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia scp2 30
  • 72.19 (n)
Str.17130 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.24309 30
Zebrafish
(Danio rerio)
Actinopterygii scp2a 30 31
  • 70.22 (n)
OneToOne
zgc77634 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4325 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG17597 31 32
  • 61 (a)
OneToMany
ScpX 30 31 32
  • 58.48 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007921 30
  • 56.65 (n)
Worm
(Caenorhabditis elegans)
Secernentea daf-22 30 31
  • 59.8 (n)
OneToOne
Y57A10C.6 32
  • 58 (a)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FOX2 31
  • 9 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 61 (a)
OneToMany
CSA.3842 31
  • 60 (a)
OneToMany
Bread mold
(Neurospora crassa)
Ascomycetes NCU03372 30
  • 56.15 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.2009 30
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

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
12810 Pathogenic: Leukoencephalopathy with dystonia and motor neuropathy 52,974,790(+) C/CA FRAMESHIFT_VARIANT
695702 Likely Benign: not provided 52,947,999(+) G/A INTRON_VARIANT
760912 Likely Benign: not provided 53,038,922(+) G/A SYNONYMOUS_VARIANT,INTRON_VARIANT
798642 Likely Benign: not provided 52,988,102(+) A/C SYNONYMOUS_VARIANT
801491 Benign: Leukoencephalopathy with dystonia and motor neuropathy 52,941,734(+) CA/C INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for SCP2 Gene

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

SNP Genotyping and Copy Number Assay Products

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: OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
leukoencephalopathy with dystonia and motor neuropathy
  • lkdmn
wheat allergy
  • allergy to wheat
rhizomelic chondrodysplasia punctata, type 1
  • rcdp1
peach allergy
  • prunus persica fruit allergy
yellow fever
  • jungle yellow fever
- 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 (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 mutations affecting the gene represented in this entry.

Additional Disease Information for SCP2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 23
  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 23
  3. 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 23
  4. Structure-activity studies of human sterol carrier protein 2. (PMID: 8300590) Seedorf U … Assmann G (The Journal of biological chemistry 1994) 3 4 23
  5. NMR determination of the secondary structure and the three-dimensional polypeptide backbone fold of the human sterol carrier protein 2. (PMID: 8243660) Szyperski T … Wüthrich K (FEBS letters 1993) 3 4 23

Products for SCP2 Gene

Sources for SCP2 Gene