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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SCP2
sterol carrier protein 2
Chromosome 1 Β· 1p32.3
NCBI Gene: 6342Ensembl: ENSG00000116171.19HGNC: HGNC:10606UniProt: A0A384NY87
102PubMed Papers
21Diseases
0Drugs
27Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTransporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
oleic acid bindingpositive regulation of intracellular cholesterol transportprotein-containing complexfatty-acyl-CoA bindingLeukoencephalopathy - dystonia - motor neuropathysterol carrier protein 2 deficiencyleukodystrophysensorineural hearing loss
✦AI Summary

SCP2 (sterol carrier protein 2) is a lipid transfer protein that mediates transport of lipids between cellular compartments, with primary roles in cholesterol and phospholipid trafficking and fatty acyl-CoA metabolism. 1 Recent evidence demonstrates that SCP2 primarily functions in transporting fatty acyl-CoAs rather than sterols for peroxisomal beta-oxidation and alpha-oxidation of phytanic acid. 1 Additionally, SCP2 mediates cytoplasmic lipid hydroperoxide (LPO) transport to mitochondria, a process implicated in chondrocyte ferroptosis and osteoarthritis progression. 2 In hepatocytes, SCP2 regulates cholesterol metabolism by modulating HMGCR and CYP7A1 expression, influencing bile composition and potentially gallstone formation. 3 SCP2 also plays a role in steroidogenesis by enhancing cholesterol movement to mitochondria and stimulating pregnenolone synthesis. 4 Dysregulation of SCP2 is clinically significant in multiple contexts: ubiquitination and degradation of SCP2 by Siah1 promotes nonalcoholic fatty liver disease (NAFLD) progression, 5 while elevated SCP2 in osteoarthritic cartilage accelerates ferroptosis-mediated chondrocyte damage. 2 These findings establish SCP2 as a critical regulator of lipid homeostasis with implications for metabolic and degenerative diseases.

Sources cited
1
SCP2 primarily functions in fatty acyl-CoA transport for peroxisomal beta-oxidation and alpha-oxidation of phytanic acid rather than sterol transport
PMID: 10856712
2
SCP2 transports cytoplasmic lipid hydroperoxides to mitochondria in chondrocyte ferroptosis and osteoarthritis pathogenesis
PMID: 37422468
3
SCP2 regulates HMGCR and CYP7A1 expression in hepatocytes, influencing cholesterol secretion and bile lithogenicity
PMID: 24226717
4
SCP2 enhances cholesterol movement to mitochondria and stimulates pregnenolone synthesis in steroidogenesis
PMID: 8274432
5
Siah1-mediated ubiquitination and degradation of SCP2 promotes hepatic lipid accumulation and NAFLD progression
PMID: 37696143
Disease Associationsβ“˜21
Leukoencephalopathy - dystonia - motor neuropathyOpen Targets
0.71Strong
sterol carrier protein 2 deficiencyOpen Targets
0.68Moderate
leukodystrophyOpen Targets
0.12Weak
Sensorineural hearing impairmentOpen Targets
0.12Weak
sensorineural hearing lossOpen Targets
0.12Weak
azoospermiaOpen Targets
0.10Weak
Hyperlipoproteinemia type 1Open Targets
0.07Suggestive
glycogen storage disease VIOpen Targets
0.06Suggestive
idiopathic pulmonary fibrosisOpen Targets
0.06Suggestive
neonatal intrahepatic cholestasis due to citrin deficiencyOpen Targets
0.06Suggestive
familial hypercholesterolemiaOpen Targets
0.06Suggestive
progressive familial intrahepatic cholestasisOpen Targets
0.06Suggestive
familial apolipoprotein C-II deficiencyOpen Targets
0.06Suggestive
proteasome-associated autoinflammatory syndrome 5Open Targets
0.05Suggestive
Combined hyperlipidemiaOpen Targets
0.05Suggestive
Congenital bile acid synthesis defect type 1Open Targets
0.05Suggestive
congenital disorder of glycosylation type IIOpen Targets
0.05Suggestive
transient infantile hypertriglyceridemia and hepatosteatosisOpen Targets
0.05Suggestive
congenital bile acid synthesis defect 1Open Targets
0.05Suggestive
hypertriglyceridemia 2Open Targets
0.05Suggestive
Leukoencephalopathy with dystonia and motor neuropathyUniProt
Pathogenic Variants27
NM_002979.5(SCP2):c.825+1G>TPathogenic
Sterol carrier protein 2 deficiency|not provided|SCP2-related disorder|Hepatocellular carcinoma|Ovarian cancer
β˜…β˜…β˜†β˜†2026
NM_002979.5(SCP2):c.588dupPathogenic
not provided|Sterol carrier protein 2 deficiency
β˜…β˜…β˜†β˜†2025
NM_002979.5(SCP2):c.1111C>T (p.Gln371Ter)Pathogenic
Sterol carrier protein 2 deficiency|not provided|SCP2-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 371
NM_002979.5(SCP2):c.974-1G>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_002979.5(SCP2):c.535G>T (p.Glu179Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 179
NM_002979.5(SCP2):c.617del (p.Ser205_Leu206insTer)Pathogenic
Sterol carrier protein 2 deficiency
β˜…β˜†β˜†β˜†2025β†’ Residue 205
NM_002979.5(SCP2):c.1135_1136dup (p.Gln380fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 380
NM_002979.5(SCP2):c.199+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_002979.5(SCP2):c.325C>T (p.Gln109Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 109
NM_002979.5(SCP2):c.550dup (p.Ile184fs)Pathogenic
Sterol carrier protein 2 deficiency|not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 184
NM_002979.5(SCP2):c.973+1G>ALikely pathogenic
Sterol carrier protein 2 deficiency
β˜…β˜†β˜†β˜†2024
NM_002979.5(SCP2):c.739dup (p.Leu247fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 247
NM_002979.5(SCP2):c.524-2A>GLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_002979.5(SCP2):c.675-1G>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_002979.5(SCP2):c.481C>T (p.Gln161Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 161
NM_002979.5(SCP2):c.825+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2023
NM_002979.5(SCP2):c.151C>T (p.Gln51Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 51
NM_002979.5(SCP2):c.1236-1G>TLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2023
NM_002979.5(SCP2):c.417del (p.Thr140fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 140
NM_002979.5(SCP2):c.838dup (p.Met280fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 280
View on ClinVar β†—
Related Genes
GNPATProtein interaction100%ACOX3Protein interaction99%CRATProtein interaction98%HIBCHProtein interaction96%ACADLProtein interaction95%ACADMProtein interaction95%
Tissue Expression6 tissues
Liver
100%
Heart
24%
Brain
14%
Bone Marrow
13%
Ovary
10%
Lung
9%
Gene Interaction Network
Click a node to explore
SCP2GNPATACOX3CRATHIBCHACADLACADM
PROTEIN STRUCTURE
Preparing viewer…
PDB2C0L Β· 2.30 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.94LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.67 [0.48–0.94]
RankingsWhere SCP2 stands among ~20K protein-coding genes
  • #4,693of 20,598
    Most Researched102 Β· top quartile
  • #1,899of 5,498
    Most Pathogenic Variants27
  • #8,799of 17,882
    Most Constrained (LOEUF)0.94
Genes detectedSCP2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Sterol carrier protein-2.
PMID: 10856712
Biochim Biophys Acta Β· 2000
1.00
2
Targeting SOST using a small-molecule compound retards breast cancer bone metastasis.
PMID: 36581888
Mol Cancer Β· 2022
0.90
3
SCP2 mediates the transport of lipid hydroperoxides to mitochondria in chondrocyte ferroptosis.
PMID: 37422468
Cell Death Discov Β· 2023
0.80
4
A structural appraisal of sterol carrier protein 2.
PMID: 28284963
Biochim Biophys Acta Proteins Proteom Β· 2017
0.70
5
Increased bile lithogenicity by SCP2 via HMGCR and CYP7A1 regulation in human hepatocytes.
PMID: 24226717
Turk J Gastroenterol Β· 2013
0.60