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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]
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.
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 |
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 | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Synthesis of bile acids and bile salts | ||
2 | alpha-linolenic (omega3) and linoleic (omega6) acid metabolism | ||
3 | Metabolism |
.40
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4 | fatty acid beta-oxidation (peroxisome) | ||
5 | Peroxisomal lipid metabolism |
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 | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
7-dehydrocholesterol |
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434-16-2 | ||||
3a,7a,12a-Trihydroxy-5b-24-oxocholestanoyl-CoA |
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3a,7a-Dihydroxy-5b-24-oxocholestanoyl-CoA |
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Chenodeoxycholoyl-CoA |
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60731-52-4 |
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Choloyl-CoA |
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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: | - |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SCP2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SCP2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SCP2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Scp2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Scp2 30 |
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Platypus (Ornithorhynchus anatinus) |
Mammalia | SCP2 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | SCP2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | SCP2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SCP2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | scp2 30 |
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Str.17130 30 |
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African clawed frog (Xenopus laevis) |
Amphibia | Xl.24309 30 |
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Zebrafish (Danio rerio) |
Actinopterygii | scp2a 30 31 |
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OneToOne | |
zgc77634 30 |
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Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.4325 30 |
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Fruit Fly (Drosophila melanogaster) |
Insecta | CG17597 31 32 |
|
OneToMany | |
ScpX 30 31 32 |
|
OneToMany | |||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP007921 30 |
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Worm (Caenorhabditis elegans) |
Secernentea | daf-22 30 31 |
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OneToOne | |
Y57A10C.6 32 |
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Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | FOX2 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
CSA.3842 31 |
|
OneToMany | |||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU03372 30 |
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Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.2009 30 |
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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 |
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 |
Disorder | Aliases | PubMed IDs |
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leukoencephalopathy with dystonia and motor neuropathy |
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wheat allergy |
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rhizomelic chondrodysplasia punctata, type 1 |
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peach allergy |
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yellow fever |
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