Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6342
Gene name Gene Name - the full gene name approved by the HGNC.
Sterol carrier protein 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SCP2
Synonyms (NCBI Gene) Gene synonyms aliases
NLTP, NSL-TP, SCOX, SCP-2, SCP-CHI, SCP-X, SCPX
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p32.3
Summary Summary of gene provided in NCBI Entrez 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 S
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs144132787 G>T Likely-pathogenic Splice donor variant, genic upstream transcript variant
rs148423275 C>T Conflicting-interpretations-of-pathogenicity Synonymous variant, genic upstream transcript variant, coding sequence variant
rs761545816 T>C Conflicting-interpretations-of-pathogenicity Genic downstream transcript variant, intron variant
rs774694600 T>C Conflicting-interpretations-of-pathogenicity Coding sequence variant, synonymous variant, genic upstream transcript variant
rs1572119109 ->A Pathogenic Coding sequence variant, genic upstream transcript variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT016091 hsa-miR-769-5p Sequencing 20371350
MIRT030161 hsa-miR-26b-5p Microarray 19088304
MIRT052762 hsa-miR-1260b CLASH 23622248
MIRT563554 hsa-miR-4733-5p PAR-CLIP 20371350
MIRT072025 hsa-miR-511-3p PAR-CLIP 20371350
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000062 Function Fatty-acyl-CoA binding IDA 18465878
GO:0003988 Function Acetyl-CoA C-acyltransferase activity ISS
GO:0005102 Function Signaling receptor binding IPI 21375735
GO:0005515 Function Protein binding IPI 15182174, 19584060, 21516116, 25416956
GO:0005654 Component Nucleoplasm IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
184755 10606 ENSG00000116171
Protein
UniProt ID P22307
Protein name Sterol carrier protein 2 (SCP-2) (Acetyl-CoA C-myristoyltransferase) (EC 2.3.1.155) (Non-specific lipid-transfer protein) (NSL-TP) (Propanoyl-CoA C-acyltransferase) (EC 2.3.1.176) (SCP-2/3-oxoacyl-CoA thiolase) (SCP-2/thiolase) (EC 2.3.1.16) (SCP-chi) (SC
Protein function [Isoform SCPx]: Plays a crucial role in the peroxisomal oxidation of branched-chain fatty acids (PubMed:10706581). Catalyzes the last step of the peroxisomal beta-oxidation of branched chain fatty acids and the side chain of the bile acid interm
PDB 1QND , 2C0L
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00108 Thiolase_N 14 240 Thiolase, N-terminal domain Domain
PF02803 Thiolase_C 279 401 Thiolase, C-terminal domain Domain
PF02036 SCP2 437 539 SCP-2 sterol transfer family Family
Tissue specificity TISSUE SPECIFICITY: Liver, fibroblasts, and placenta.
Sequence
Sequence length 547
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Primary bile acid biosynthesis
Biosynthesis of unsaturated fatty acids
Metabolic pathways
Fatty acid metabolism
PPAR signaling pathway
Peroxisome
  Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol
alpha-linolenic acid (ALA) metabolism
Beta-oxidation of pristanoyl-CoA
Peroxisomal protein import
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Azoospermia Azoospermia rs200969445, rs144567652, rs765353898
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
Leukoencephalopathy Leukoencephalopathy rs34757931 16685654
Leukoencephalopathy with vanishing white matter Childhood Ataxia with Central Nervous System Hypomyelinization rs113994033, rs113994037, rs113994027, rs113994038, rs113994040, rs104894425, rs104894426, rs104894427, rs104894428, rs113994014, rs113994024, rs113994026, rs113994022, rs119474039, rs28939717
View all (26 more)
16685654
Associations from Text Mining
Disease Name Relationship Type References
Adrenoleukodystrophy Associate 2085845
Arrhythmias Cardiac Inhibit 35996156
Arthritis Psoriatic Associate 34344401
Azoospermia Associate 35996156
Breast Neoplasms Associate 28758931, 37511575
Carcinoma Renal Cell Associate 37304236
Cholangiocarcinoma Associate 34211100
Craniofacial Fibrous Dysplasia Associate 33157955
Developmental Disabilities Associate 33157955
Diabetes Mellitus Associate 37511575