SCP2 (sterol carrier protein 2)

Gene

• Entrez ID: 6342
• Gene name: Sterol carrier protein 2
• Gene symbol: SCP2
• Synonyms: NLTP, NSL-TP, SCOX, SCP-2, SCP-CHI, SCP-X, SCPX
• Chromosome: 1
• Chromosome location: 1p32.3
• Summary: 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 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

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
MIRT563553	hsa-miR-4762-5p	PAR-CLIP	20371350
MIRT563552	hsa-miR-622	PAR-CLIP	20371350
MIRT563551	hsa-miR-662	PAR-CLIP	20371350
MIRT072026	hsa-miR-4703-3p	PAR-CLIP	20371350
MIRT072022	hsa-miR-192-3p	PAR-CLIP	20371350
MIRT563550	hsa-miR-4776-3p	PAR-CLIP	20371350
MIRT072021	hsa-miR-30a-3p	PAR-CLIP	20371350
MIRT072023	hsa-miR-30d-3p	PAR-CLIP	20371350
MIRT072024	hsa-miR-30e-3p	PAR-CLIP	20371350
MIRT563554	hsa-miR-4733-5p	PAR-CLIP	20371350
MIRT072025	hsa-miR-511-3p	PAR-CLIP	20371350
MIRT563553	hsa-miR-4762-5p	PAR-CLIP	20371350
MIRT563552	hsa-miR-622	PAR-CLIP	20371350
MIRT563551	hsa-miR-662	PAR-CLIP	20371350
MIRT072026	hsa-miR-4703-3p	PAR-CLIP	20371350
MIRT072022	hsa-miR-192-3p	PAR-CLIP	20371350
MIRT563550	hsa-miR-4776-3p	PAR-CLIP	20371350
MIRT072021	hsa-miR-30a-3p	PAR-CLIP	20371350
MIRT072023	hsa-miR-30d-3p	PAR-CLIP	20371350
MIRT072024	hsa-miR-30e-3p	PAR-CLIP	20371350
MIRT1330574	hsa-miR-361-5p	CLIP-seq
MIRT1330575	hsa-miR-3925-5p	CLIP-seq
MIRT1330576	hsa-miR-432	CLIP-seq
MIRT1330577	hsa-miR-4453	CLIP-seq
MIRT1330578	hsa-miR-4538	CLIP-seq
MIRT1330579	hsa-miR-4712-3p	CLIP-seq
MIRT1330580	hsa-miR-873	CLIP-seq
MIRT1330581	hsa-miR-146a	CLIP-seq
MIRT1330582	hsa-miR-146b-5p	CLIP-seq
MIRT1330583	hsa-miR-203	CLIP-seq
MIRT1330584	hsa-miR-340	CLIP-seq
MIRT1330585	hsa-miR-3653	CLIP-seq
MIRT1330586	hsa-miR-3658	CLIP-seq
MIRT1330587	hsa-miR-374a	CLIP-seq
MIRT1330588	hsa-miR-374b	CLIP-seq
MIRT1330589	hsa-miR-4799-5p	CLIP-seq
MIRT1330590	hsa-miR-589	CLIP-seq
MIRT1330591	hsa-miR-660	CLIP-seq
MIRT1330581	hsa-miR-146a	CLIP-seq
MIRT1330582	hsa-miR-146b-5p	CLIP-seq
MIRT1330583	hsa-miR-203	CLIP-seq
MIRT1330592	hsa-miR-217	CLIP-seq
MIRT1330593	hsa-miR-337-3p	CLIP-seq
MIRT1330584	hsa-miR-340	CLIP-seq
MIRT1330594	hsa-miR-3616-5p	CLIP-seq
MIRT1330595	hsa-miR-3647-5p	CLIP-seq
MIRT1330587	hsa-miR-374a	CLIP-seq
MIRT1330588	hsa-miR-374b	CLIP-seq
MIRT1330596	hsa-miR-4420	CLIP-seq
MIRT1330597	hsa-miR-4461	CLIP-seq
MIRT1330598	hsa-miR-4680-3p	CLIP-seq
MIRT1330599	hsa-miR-4766-5p	CLIP-seq
MIRT1330600	hsa-miR-4795-5p	CLIP-seq
MIRT1330601	hsa-miR-519a	CLIP-seq
MIRT1330602	hsa-miR-519b-3p	CLIP-seq
MIRT1330603	hsa-miR-519c-3p	CLIP-seq
MIRT1330604	hsa-miR-539	CLIP-seq
MIRT1330605	hsa-miR-548a-3p	CLIP-seq
MIRT1330606	hsa-miR-548e	CLIP-seq
MIRT1330607	hsa-miR-548f	CLIP-seq
MIRT1330608	hsa-miR-570	CLIP-seq
MIRT1330609	hsa-miR-573	CLIP-seq
MIRT1330610	hsa-miR-580	CLIP-seq
MIRT1330590	hsa-miR-589	CLIP-seq
MIRT2097872	hsa-miR-2054	CLIP-seq
MIRT2322230	hsa-miR-297	CLIP-seq
MIRT2322231	hsa-miR-3149	CLIP-seq
MIRT2322232	hsa-miR-590-3p	CLIP-seq
MIRT2458983	hsa-miR-1261	CLIP-seq
MIRT2458984	hsa-miR-1286	CLIP-seq
MIRT2458985	hsa-miR-214	CLIP-seq
MIRT2458986	hsa-miR-2278	CLIP-seq
MIRT2458987	hsa-miR-3120-3p	CLIP-seq
MIRT2458988	hsa-miR-3145-3p	CLIP-seq
MIRT2458989	hsa-miR-3619-5p	CLIP-seq
MIRT1330575	hsa-miR-3925-5p	CLIP-seq
MIRT2458990	hsa-miR-3940-3p	CLIP-seq
MIRT1330576	hsa-miR-432	CLIP-seq
MIRT2458991	hsa-miR-4436a	CLIP-seq
MIRT1330577	hsa-miR-4453	CLIP-seq
MIRT1330578	hsa-miR-4538	CLIP-seq
MIRT1330579	hsa-miR-4712-3p	CLIP-seq
MIRT2458992	hsa-miR-4773	CLIP-seq
MIRT2458993	hsa-miR-761	CLIP-seq
MIRT2690250	hsa-miR-1228	CLIP-seq
MIRT2690251	hsa-miR-1246	CLIP-seq
MIRT2690252	hsa-miR-1273d	CLIP-seq
MIRT2690253	hsa-miR-1279	CLIP-seq
MIRT2690254	hsa-miR-1305	CLIP-seq
MIRT1330581	hsa-miR-146a	CLIP-seq
MIRT1330582	hsa-miR-146b-5p	CLIP-seq
MIRT2690255	hsa-miR-1912	CLIP-seq
MIRT2690256	hsa-miR-199a-3p	CLIP-seq
MIRT2690257	hsa-miR-199b-3p	CLIP-seq
MIRT2690258	hsa-miR-200b	CLIP-seq
MIRT2690259	hsa-miR-200c	CLIP-seq
MIRT1330583	hsa-miR-203	CLIP-seq
MIRT2097872	hsa-miR-2054	CLIP-seq
MIRT1330592	hsa-miR-217	CLIP-seq
MIRT2322230	hsa-miR-297	CLIP-seq
MIRT2690260	hsa-miR-3122	CLIP-seq
MIRT2690261	hsa-miR-3129-5p	CLIP-seq
MIRT2690262	hsa-miR-3148	CLIP-seq
MIRT2322231	hsa-miR-3149	CLIP-seq
MIRT2690263	hsa-miR-3155	CLIP-seq
MIRT2690264	hsa-miR-3155b	CLIP-seq
MIRT2690265	hsa-miR-3163	CLIP-seq
MIRT2690266	hsa-miR-3201	CLIP-seq
MIRT2690267	hsa-miR-330-3p	CLIP-seq
MIRT1330584	hsa-miR-340	CLIP-seq
MIRT1330585	hsa-miR-3653	CLIP-seq
MIRT1330586	hsa-miR-3658	CLIP-seq
MIRT2690268	hsa-miR-3662	CLIP-seq
MIRT1330587	hsa-miR-374a	CLIP-seq
MIRT1330588	hsa-miR-374b	CLIP-seq
MIRT2690269	hsa-miR-374c	CLIP-seq
MIRT2690270	hsa-miR-3913-5p	CLIP-seq
MIRT2690271	hsa-miR-4275	CLIP-seq
MIRT2690272	hsa-miR-429	CLIP-seq
MIRT2690273	hsa-miR-4496	CLIP-seq
MIRT2690274	hsa-miR-452	CLIP-seq
MIRT2690275	hsa-miR-4676-3p	CLIP-seq
MIRT2690276	hsa-miR-4716-5p	CLIP-seq
MIRT2690277	hsa-miR-4738-3p	CLIP-seq
MIRT2690278	hsa-miR-4747-5p	CLIP-seq
MIRT2690279	hsa-miR-4762-3p	CLIP-seq
MIRT1330599	hsa-miR-4766-5p	CLIP-seq
MIRT2690280	hsa-miR-4791	CLIP-seq
MIRT2690281	hsa-miR-484	CLIP-seq
MIRT2690282	hsa-miR-498	CLIP-seq
MIRT2690283	hsa-miR-509-3p	CLIP-seq
MIRT1330605	hsa-miR-548a-3p	CLIP-seq
MIRT2690284	hsa-miR-548c-3p	CLIP-seq
MIRT1330606	hsa-miR-548e	CLIP-seq
MIRT1330607	hsa-miR-548f	CLIP-seq
MIRT1330608	hsa-miR-570	CLIP-seq
MIRT1330590	hsa-miR-589	CLIP-seq
MIRT2322232	hsa-miR-590-3p	CLIP-seq
MIRT2690285	hsa-miR-655	CLIP-seq
MIRT1330591	hsa-miR-660	CLIP-seq
MIRT2690286	hsa-miR-944	CLIP-seq

Gene ontology (GO)

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
GO:0005739	Component	Mitochondrion	IEA
GO:0005777	Component	Peroxisome	IDA	1347505, 21375735
GO:0005782	Component	Peroxisomal matrix	TAS
GO:0005829	Component	Cytosol	TAS
GO:0006625	Process	Protein targeting to peroxisome	TAS
GO:0006635	Process	Fatty acid beta-oxidation	ISS
GO:0006694	Process	Steroid biosynthetic process	IBA	21873635
GO:0006699	Process	Bile acid biosynthetic process	TAS
GO:0008206	Process	Bile acid metabolic process	ISS
GO:0015485	Function	Cholesterol binding	IDA	18465878
GO:0015914	Process	Phospholipid transport	IBA	21873635
GO:0016020	Component	Membrane	HDA	19946888
GO:0032385	Process	Positive regulation of intracellular cholesterol transport	IBA	21873635
GO:0032385	Process	Positive regulation of intracellular cholesterol transport	IDA	15449949
GO:0032934	Function	Sterol binding	IBA	21873635
GO:0032991	Component	Protein-containing complex	IDA	19584060
GO:0033540	Process	Fatty acid beta-oxidation using acyl-CoA oxidase	TAS
GO:0033814	Function	Propanoyl-CoA C-acyltransferase activity	IEA
GO:0036042	Function	Long-chain fatty acyl-CoA binding	IDA	17418802
GO:0036109	Process	Alpha-linolenic acid metabolic process	TAS
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0050632	Function	Propionyl-CoA C2-trimethyltridecanoyltransferase activity	EXP	11734571
GO:0050632	Function	Propionyl-CoA C2-trimethyltridecanoyltransferase activity	TAS
GO:0050633	Function	Acetyl-CoA C-myristoyltransferase activity	ISS
GO:0070538	Function	Oleic acid binding	IDA	18465878
GO:1901373	Process	Lipid hydroperoxide transport	IDA	15449949

Other IDs

• MIM: 184755
• HGNC: 10606
• e!Ensembl: 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

• Sequence:

  MSSSPWEPATLRRVFVVGVGMTKFVKPGAENSRDYPDLAEEAGKKALADAQIPYSAVDQA
  CVGYVFGDSTCGQRAIYHSLGMTGIPIINVNNNCATGSTALFMARQLIQGGVAECVLALG
  FEKMSKGSLGIKFSDRTIPTDKHVDLLINKYGLSAHPVAPQMFGYAGKEHMEKYGTKIEH
  FAKIGWKNHKHSVNNPYSQFQDEYSLDEVMASKEVFDFLTILQCCPTSDGAAAAILASEA
  FVQKYGLQSKAVEILAQEMMTDLPSSFEEKSIIKMVGFDMSKEAARKCYEKSGLTPNDID
  VIELHDCFSTNELLTYEALGLCPEGQGATLVDRGDNTYGGKWVINPSGGLISKGHPLGAT
  GLAQCAELCWQLRGEAGKRQVPGAKVALQHNLGIGGAVVVTLYKMGFPEAASSFRTHQIE
  AVPTSSASDGFKANLVFKEIEKKLEEEGEQFVKKIGGIFAFKVKDGPGGKEATWVVDVKN
  GKGSVLPNSDKKADCTITMADSDFLALMTGKMNPQSAFFQGKLKITGNMGLAMKLQNLQL
  QPGNAKL

• Sequence length: 547

Pathways

KEGG:

Primary bile acid biosynthesis
Biosynthesis of unsaturated fatty acids
Metabolic pathways
Fatty acid metabolism
PPAR signaling pathway
Peroxisome

Reactome:

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

Causal
Disease name	Disease term	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, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243
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, rs28937596, rs113994074, rs113994049, rs113994054, rs113994061, rs113994055, rs113994053, rs113994064, rs121908541, rs397514646, rs397514647, rs397514648, rs113994048, rs113994012, rs758746181, rs767933078, rs113994060, rs113994030, rs1064794256, rs141988913, rs113994016, rs372548739, rs752636698, rs755436800, rs113994068, rs545593935	16685654
Polyneuropathy	Polyneuropathy, Polyneuropathy, Motor, Polyneuropathy, Critical Illness, Polyneuropathy, Familial, Acquired Polyneuropathy	rs1597597437	16685654

Unknown
Disease name	Disease term	dbSNP ID	References
Hypogonadism	Primary hypogonadism
Leukoencephalopathy with dystonia and motor neuropathy	LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY, Leukoencephalopathy-dystonia-motor neuropathy syndrome		16685654, 26497993
Nervous system diseases	Peripheral Nervous System Diseases