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SCP2 Gene(Protein Coding)

Sterol Carrier Protein 2

GCID:
GC01P052927
GIFtS:
57
Genes Participants
UDN Logo

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 56
  • SCP-CHI 3 4
  • NSL-TP 3 4
  • SCP-2 3 4
  • SCP-X 3 4
  • SCPX 3 4
  • Non-Specific Lipid-Transfer Protein 3
  • 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 DNA Damage Response (only ATM dependent) and Cholesterol and Sphingolipids transport / Distribution to the intracellular membrane compartments (normal and CF). Gene Ontology (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

Additional gene information for SCP2 Gene

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

Genomics for SCP2 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for SCP2 Gene

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
GH01I053014 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 555.6 +88.0 87973 2 HDGF PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 IRF4 YY1 SLC30A9 SCP2 HSPB11 PRPF38A GC01P053008 GC01P053051
GH01I052926 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 550.8 +0.3 289 1.8 MLX ARID4B SIN3A DMAP1 ZNF48 YY1 POLR2B GLIS2 RXRA REST ECHDC2 SCP2 MIR1273F COA7 SLC1A7
GH01I052925 Enhancer 1.1 Ensembl ENCODE 550.8 -1.6 -1559 1 PKNOX1 FOXA2 MLX ARID4B RAD21 RARA ETS1 YY1 CREM THAP11 LOC100652967 SCP2 ECHDC2
GH01I052904 Enhancer 0.8 ENCODE 12.3 -21.6 -21623 1.6 HDGF CTCF USF1 TAF1 RB1 RAD21 YY1 ZNF324 CC2D1A ZFHX2 MAGOH ECHDC2 SCP2 ZCCHC11 ENSG00000230953 RPS13P2 GPX7 SLC1A7 PIR50883
GH01I052906 Enhancer 0.6 ENCODE 12.3 -20.7 -20745 0.2 RXRA TAF1 RAD21 NR2F2 YY1 NFIC JUND ATF3 HNF4A SCP2 ECHDC2 PIR50883 ENSG00000230953
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SCP2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SCP2 gene promoter:

Genomic Locations for SCP2 Gene

Genomic Locations for SCP2 Gene
chr1:52,927,229-53,051,703
(GRCh38/hg38)
Size:
124,475 bases
Orientation:
Plus strand
chr1:53,392,901-53,517,375
(GRCh37/hg19)

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 Structure • Gene Density

RefSeq DNA sequence for SCP2 Gene

Proteins for SCP2 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

    UniProtKB/Swiss-Prot:

neXtProt entry for SCP2 Gene

Protein Expression for SCP2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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

Other Protein References for SCP2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for SCP2 Gene

Gene Families for SCP2 Gene

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

Protein Domains for SCP2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for SCP2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P22307

UniProtKB/Swiss-Prot:

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

Function for SCP2 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

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:0000062 fatty-acyl-CoA binding IDA 18465878
GO:0003824 catalytic activity IEA --
GO:0005102 receptor binding IPI 20178365
GO:0005515 protein binding IPI 15182174
GO:0008289 lipid binding IEA --
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

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
extracellular 5
peroxisome 5
nucleus 5
mitochondrion 4
cytosol 3
plasma membrane 2
endoplasmic reticulum 2
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Peroxisomes (4)
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 IDA,IEA 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

Gene Ontology (GO) - Biological Process for SCP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006694 steroid biosynthetic process IBA --
GO:0006699 bile acid biosynthetic process TAS --
GO:0006810 transport IEA --
GO:0006869 lipid transport IEA --
GO:0007031 peroxisome organization IEA --
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

Products:

  1. Drug

(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: HMDB and Novoseek

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

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for SCP2 Gene

(13) REFSEQ mRNAs :
(14) Additional mRNA sequences :
(878) Selected AceView cDNA sequences:
(17) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SCP2 Gene

Sterol carrier protein 2:
Representative Sequences:

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
ECgene alternative splicing isoforms for
SCP2

Expression for SCP2 Gene

Products:

  1. Primer

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

mRNA expression in normal human tissues for SCP2 Gene
mRNA expression by GTEx for SCP2 GenemRNA expression by BioGPS 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, MaxQB, and MOPED for SCP2 Gene



Protein tissue co-expression partners for SCP2 Gene

NURSA nuclear receptor signaling pathways regulating expression of SCP2 Gene:

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(4.2)
  • Skin(3.3)
  • Intestine(3)
  • Adrenal gland(2.9)
  • Pancreas(2.7)
  • Lung(2.5)
  • Gall bladder(2.4)
  • Stomach(2.1)
  • Thyroid gland(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

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 33 34
  • 99.7 (n)
dog
(Canis familiaris)
 Mammalia SCP2 33 34
  • 90.42 (n)
cow
(Bos Taurus)
 Mammalia SCP2 33 34
  • 90.02 (n)
mouse
(Mus musculus)
 Mammalia Scp2 33 16 34
  • 86.05 (n)
rat
(Rattus norvegicus)
 Mammalia Scp2 33
  • 84.46 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia SCP2 34
  • 83 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia SCP2 34
  • 70 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves SCP2 33 34
  • 74.78 (n)
lizard
(Anolis carolinensis)
 Reptilia SCP2 34
  • 79 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia scp2 33
  • 72.19 (n)
Str.17130 33
African clawed frog
(Xenopus laevis)
 Amphibia Xl.24309 33
zebrafish
(Danio rerio)
 Actinopterygii scp2a 33 34
  • 70.22 (n)
zgc77634 33
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.4325 33
fruit fly
(Drosophila melanogaster)
 Insecta CG17597 35 34
  • 63 (a)
ScpX 35 33 34
  • 58.48 (n)
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP007921 33
  • 56.65 (n)
worm
(Caenorhabditis elegans)
 Secernentea daf-22 33 34
  • 59.8 (n)
Y57A10C.6 35
  • 58 (a)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes FOX2 34
  • 9 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 61 (a)
 OneToMany
CSA.3842 34
  • 60 (a)
 OneToMany
bread mold
(Neurospora crassa)
 Ascomycetes NCU03372 33
  • 56.15 (n)
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.2009 33
Species where no ortholog for SCP2 was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
VAR_035706 A breast cancer sample p.Ala155Asp
rs774694600 uncertain-significance, not specified 52,976,743(+) T/C coding_sequence_variant, genic_upstream_transcript_variant, synonymous_variant
rs80033039 uncertain-significance, not specified 52,978,229(+) T/C coding_sequence_variant, genic_upstream_transcript_variant, synonymous_variant
rs41294530 benign, not specified 52,976,704(+) A/G coding_sequence_variant, genic_upstream_transcript_variant, synonymous_variant
rs1000012126 -- 53,030,063(+) A/G genic_downstream_transcript_variant, intron_variant

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

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

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

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

Disorders for SCP2 Gene

MalaCards: The human disease database

(18) MalaCards diseases for SCP2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
leukoencephalopathy with dystonia and motor neuropathy
  • lkdmn
wheat allergy
  • allergy to wheat
peach allergy
  • prunus persica fruit allergy
fruit allergy
  • allergy to fruit
torticollis
- 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
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 JF (Proceedings of the National Academy of Sciences of the United States of America 1991) 2 3 4 22 58
  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 JF (DNA and cell biology 1991) 2 3 4 22 58
  3. Structure-activity studies of human sterol carrier protein 2. (PMID: 8300590) Seedorf U … Assmann G (The Journal of biological chemistry 1994) 3 4 22 58
  4. 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 58
  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 22 58

Products for SCP2 Gene

  • Addgene plasmids for SCP2

Sources for SCP2 Gene

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