Gene table of SCP2 : sterol carrier protein 2

Gene-disease associations table

Disease ID	Disease name	Source of annotation with SCP2	OMIM link	Number of associated genes	genes
613724	LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY	OMIM	link to OMIM	1	SCP2

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Metabolic pathways	hsa01100	2.49
Primary bile acid biosynthesis	hsa00120	8.68
PPAR signaling pathway	hsa03320	6.56
Peroxisome	hsa04146	6.34

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Bile acid and bile salt metabolism	R-HSA-194068	7.85
Beta-oxidation of pristanoyl-CoA	R-HSA-389887	9.98
Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol	R-HSA-193368	8.4
Peroxisomal lipid metabolism	R-HSA-390918	8.59
alpha-linolenic (omega3) and linoleic (omega6) acid metabolism	R-HSA-2046104	9.28
Metabolism	R-HSA-1430728	2.34
Synthesis of bile acids and bile salts	R-HSA-192105	8.23
alpha-linolenic acid (ALA) metabolism	R-HSA-2046106	9.28
Metabolism of lipids and lipoproteins	R-HSA-556833	3.79

Associated GO terms for Molecular function

GO term	GO ID	GO IC
propionyl-CoA C2-trimethyltridecanoyltransferase activity	GO:0050632	9.74
phosphatidylinositol transporter activity	GO:0008526	7.95
binding	GO:0005488	0.18
phospholipid transporter activity	GO:0005548	5.87
propanoyl-CoA C-acyltransferase activity	GO:0033814	9.74
long-chain fatty acyl-CoA binding	GO:0036042	8.64
long-chain fatty acid binding	GO:0036041	7.44
anion binding	GO:0043168	4.17
coenzyme binding	GO:0050662	4.53
fatty-acyl-CoA binding	GO:0000062	6.3
ion binding	GO:0043167	1.36
oleic acid binding	GO:0070538	9.05
transferase activity	GO:0016740	1.95
transferase activity, transferring acyl groups	GO:0016746	4.2
transferase activity, transferring acyl groups other than amino-acyl groups	GO:0016747	4.37
fatty acid binding	GO:0005504	6.37
lipid transporter activity	GO:0005319	5.03
sulfur compound binding	GO:1901681	4.32
sterol binding	GO:0032934	5.98
transporter activity	GO:0005215	2.57
lipid binding	GO:0008289	3.26
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
cofactor binding	GO:0048037	4.16
steroid binding	GO:0005496	5.24
monocarboxylic acid binding	GO:0033293	5.61
sterol transporter activity	GO:0015248	6.85
substrate-specific transporter activity	GO:0022892	2.72
cholesterol binding	GO:0015485	6.1
alcohol binding	GO:0043178	5.53
organic cyclic compound binding	GO:0097159	1.05
carboxylic acid binding	GO:0031406	4.64
protein binding	GO:0005515	0.46
receptor binding	GO:0005102	2.43
C-acyltransferase activity	GO:0016408	7.1