SCP2 (sterol carrier protein 2) - Rat Genome Database

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Gene: SCP2 (sterol carrier protein 2) Homo sapiens
Analyze
Symbol: SCP2
Name: sterol carrier protein 2
RGD ID: 733061
HGNC Page HGNC
Description: Exhibits several functions, including cholesterol binding activity; lipid transfer activity; and long-chain fatty acyl-CoA binding activity. Involved in several processes, including inositol trisphosphate biosynthetic process; lipid transport; and progesterone biosynthetic process. Localizes to nucleoplasm; peroxisome; and protein-containing complex. Biomarker of Zellweger syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: acetyl-CoA C-myristoyltransferase; DKFZp686C12188; DKFZp686D11188; NLTP; non-specific lipid-transfer protein; nonspecific lipid-transfer protein; NSL-TP; propanoyl-CoA C-acyltransferase; SCOX; SCP-2; SCP-2/3-oxoacyl-CoA thiolase; SCP-2/thiolase; SCP-CHI; SCP-X; SCPX; sterol carrier protein X; straight-chain acyl-CoA oxidase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: LOC100419852  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl152,927,276 - 53,051,698 (+)EnsemblGRCh38hg38GRCh38
GRCh38152,927,276 - 53,051,698 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37153,392,948 - 53,517,370 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36153,165,536 - 53,289,870 (+)NCBINCBI36hg18NCBI36
Build 34153,104,968 - 53,229,303NCBI
Celera151,680,710 - 51,805,264 (+)NCBI
Cytogenetic Map1p32.3NCBI
HuRef151,508,548 - 51,632,772 (+)NCBIHuRef
CHM1_1153,510,076 - 53,634,447 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
1,1-dichloroethene  (ISO)
1,2,4-trimethylbenzene  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-hydroxy-17-methylestra-4,9,11-trien-3-one  (EXP)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-hydroxypropanoic acid  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP,ISO)
ammonium chloride  (ISO)
atrazine  (EXP)
benzo[a]pyrene  (EXP)
benzo[e]pyrene  (EXP)
bexarotene  (ISO)
bilirubin IXalpha  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bleomycin A2  (ISO)
capsaicin  (EXP)
captan  (ISO)
chlorpyrifos  (ISO)
clofibrate  (ISO)
clofibric acid  (ISO)
cobalt dichloride  (EXP)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP,ISO)
dexamethasone  (ISO)
dibutyl phthalate  (ISO)
dichlorine  (ISO)
dicrotophos  (EXP)
diuron  (ISO)
doxorubicin  (EXP)
endosulfan  (ISO)
ethanol  (EXP,ISO)
flutamide  (ISO)
folic acid  (ISO)
folpet  (ISO)
fonofos  (EXP)
furan  (ISO)
gentamycin  (ISO)
gold atom  (ISO)
gold(0)  (ISO)
GW 4064  (EXP)
hydrazine  (ISO)
iron atom  (ISO)
iron(0)  (ISO)
kojic acid  (EXP)
methapyrilene  (EXP)
N-nitrosodiethylamine  (ISO)
N-Nitrosopyrrolidine  (EXP)
nefazodone  (ISO)
nevirapine  (EXP)
O-methyleugenol  (EXP)
oleic acid  (EXP)
ozone  (ISO)
paracetamol  (EXP,ISO)
parathion  (EXP)
pentachlorophenol  (ISO)
pentanal  (EXP)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP)
perfluorooctanoic acid  (ISO)
phytanic acid  (ISO)
pirinixic acid  (ISO)
pyrogallol  (ISO)
rac-lactic acid  (EXP)
resveratrol  (ISO)
ritonavir  (EXP)
SB 431542  (EXP)
sodium arsenite  (EXP)
sodium dichromate  (ISO)
sunitinib  (EXP)
tamoxifen  (ISO)
tauroursodeoxycholic acid  (ISO)
terbufos  (EXP)
tert-butyl hydroperoxide  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
tributylstannane  (ISO)
uranium atom  (EXP)
valproic acid  (EXP,ISO)
vitamin E  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

References

Additional References at PubMed
PMID:1347505   PMID:1483685   PMID:1703300   PMID:1718316   PMID:1755959   PMID:2294101   PMID:7654720   PMID:7698762   PMID:7788802   PMID:8004106   PMID:8063752   PMID:8243660  
PMID:8300590   PMID:8640304   PMID:9048555   PMID:10341103   PMID:10407148   PMID:10412765   PMID:10529196   PMID:10567245   PMID:10585412   PMID:10623549   PMID:10706581   PMID:10856712  
PMID:11591437   PMID:11734571   PMID:12356316   PMID:12477932   PMID:12641450   PMID:14563822   PMID:14661971   PMID:15182174   PMID:15449949   PMID:15489334   PMID:16756494   PMID:17207965  
PMID:17418802   PMID:18029348   PMID:18465878   PMID:19020914   PMID:19322201   PMID:19584060   PMID:19598235   PMID:19913121   PMID:19946888   PMID:20178365   PMID:20628086   PMID:20656919  
PMID:20677014   PMID:20877624   PMID:21078624   PMID:21375735   PMID:21516116   PMID:21873635   PMID:22939629   PMID:23376485   PMID:24501781   PMID:24510313   PMID:25281560   PMID:25416956  
PMID:26186194   PMID:26344197   PMID:27097688   PMID:27311714   PMID:28284963   PMID:28514442   PMID:28611215   PMID:29128334   PMID:29568061   PMID:30021884   PMID:31407919   PMID:31536960  
PMID:32203420   PMID:32877691  


Genomics

Comparative Map Data
SCP2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl152,927,276 - 53,051,698 (+)EnsemblGRCh38hg38GRCh38
GRCh38152,927,276 - 53,051,698 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37153,392,948 - 53,517,370 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36153,165,536 - 53,289,870 (+)NCBINCBI36hg18NCBI36
Build 34153,104,968 - 53,229,303NCBI
Celera151,680,710 - 51,805,264 (+)NCBI
Cytogenetic Map1p32.3NCBI
HuRef151,508,548 - 51,632,772 (+)NCBIHuRef
CHM1_1153,510,076 - 53,634,447 (+)NCBICHM1_1
Scp2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394107,901,027 - 108,002,168 (-)NCBIGRCm39mm39
GRCm39 Ensembl4107,901,036 - 108,002,195 (-)Ensembl
GRCm384108,043,830 - 108,144,971 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4108,043,839 - 108,144,998 (-)EnsemblGRCm38mm10GRCm38
MGSCv374107,716,444 - 107,791,104 (-)NCBIGRCm37mm9NCBIm37
MGSCv364107,541,771 - 107,616,433 (-)NCBImm8
Celera4106,393,462 - 106,469,326 (-)NCBICelera
Cytogenetic Map4C7NCBI
cM Map450.2NCBI
Scp2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.25122,806,949 - 122,881,259 (-)NCBI
Rnor_6.0 Ensembl5127,620,274 - 127,735,739 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.05127,647,934 - 127,735,703 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.05131,495,401 - 131,584,291 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45129,152,836 - 129,230,401 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.15129,158,061 - 129,235,617 (-)NCBI
Celera5121,551,168 - 121,624,570 (-)NCBICelera
Cytogenetic Map5q34NCBI
Scp2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554646,094,758 - 6,224,287 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554646,097,241 - 6,224,287 (-)NCBIChiLan1.0ChiLan1.0
SCP2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1153,797,256 - 53,924,939 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl153,797,254 - 53,924,939 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0152,195,491 - 52,324,227 (+)NCBIMhudiblu_PPA_v0panPan3
SCP2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1555,860,053 - 55,971,657 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl555,860,549 - 55,964,014 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha555,925,974 - 56,029,762 (-)NCBI
ROS_Cfam_1.0556,049,398 - 56,153,726 (-)NCBI
UMICH_Zoey_3.1556,041,491 - 56,145,154 (-)NCBI
UNSW_CanFamBas_1.0555,932,897 - 56,036,796 (-)NCBI
UU_Cfam_GSD_1.0556,322,159 - 56,425,975 (-)NCBI
Scp2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505867,305,291 - 67,411,787 (+)NCBI
SpeTri2.0NW_0049365228,004,503 - 8,110,995 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SCP2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.16159,191,045 - 159,314,985 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.26147,007,365 - 147,077,789 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SCP2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12079,868,825 - 79,993,906 (-)NCBI
ChlSab1.1 Ensembl2079,865,332 - 79,993,835 (-)Ensembl
Scp2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624859106,405 - 252,870 (-)NCBI

Position Markers
RH40056  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371114,299,932 - 14,300,126UniSTSGRCh37
GRCh37153,457,918 - 53,458,112UniSTSGRCh37
Build 36153,230,506 - 53,230,700RGDNCBI36
Celera1114,425,341 - 14,425,535UniSTS
Celera151,745,894 - 51,746,088RGD
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map11p15.2UniSTS
Cytogenetic Map1p32UniSTS
HuRef1113,981,600 - 13,981,794UniSTS
HuRef151,573,544 - 51,573,738UniSTS
RH79910  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37153,516,370 - 53,516,585UniSTSGRCh37
Build 36153,288,958 - 53,289,173RGDNCBI36
Celera151,804,345 - 51,804,560RGD
Cytogenetic Map1p32UniSTS
HuRef151,631,853 - 51,632,068UniSTS
GeneMap99-GB4 RH Map1152.53UniSTS
SCP2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37153,416,441 - 53,416,536UniSTSGRCh37
Build 36153,189,029 - 53,189,124RGDNCBI36
Celera151,704,417 - 51,704,512RGD
HuRef151,532,049 - 51,532,144UniSTS
SHGC-74838  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37153,516,943 - 53,517,082UniSTSGRCh37
Build 36153,289,531 - 53,289,670RGDNCBI36
Celera151,804,918 - 51,805,057RGD
Cytogenetic Map1p32UniSTS
HuRef151,632,426 - 51,632,565UniSTS
TNG Radiation Hybrid Map129291.0UniSTS
GeneMap99-GB4 RH Map1152.53UniSTS
NCBI RH Map1339.0UniSTS
S52450  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37153,516,472 - 53,516,957UniSTSGRCh37
Build 36153,289,060 - 53,289,545RGDNCBI36
Celera151,804,447 - 51,804,932RGD
Cytogenetic Map1p32UniSTS
HuRef151,631,955 - 51,632,440UniSTS
G17313  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37153,423,528 - 53,423,652UniSTSGRCh37
Build 36153,196,116 - 53,196,240RGDNCBI36
Celera151,711,504 - 51,711,628RGD
Cytogenetic Map1p32UniSTS
HuRef151,539,135 - 51,539,259UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5815
Count of miRNA genes:1255
Interacting mature miRNAs:1563
Transcripts:ENST00000371509, ENST00000371513, ENST00000371514, ENST00000407246, ENST00000408941, ENST00000430330, ENST00000435345, ENST00000473584, ENST00000478274, ENST00000478631, ENST00000484100, ENST00000488965, ENST00000528311, ENST00000528809, ENST00000529363, ENST00000533119
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2430 2252 1712 622 1356 463 4331 2033 3362 410 1444 1610 174 1 1203 2769 5 2
Low 9 739 14 2 595 2 26 164 372 8 16 3 1 1 19 1
Below cutoff 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001007098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001007099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001007100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001007250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001193599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001193600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001193617 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005271103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011541935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA664009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB208789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC099677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH004933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL445183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC067108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG028932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG432929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA867670 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB459183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC330171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ891355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF548098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M55421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M75883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M75884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S52450 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S79836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000371509   ⟹   ENSP00000360564
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl152,927,286 - 53,050,970 (+)Ensembl
RefSeq Acc Id: ENST00000371513   ⟹   ENSP00000360568
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl152,927,318 - 52,994,232 (+)Ensembl
RefSeq Acc Id: ENST00000371514   ⟹   ENSP00000360569
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl152,927,276 - 53,051,698 (+)Ensembl
RefSeq Acc Id: ENST00000407246   ⟹   ENSP00000384569
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl152,927,286 - 53,051,260 (+)Ensembl
RefSeq Acc Id: ENST00000408941   ⟹   ENSP00000386214
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl153,014,938 - 53,051,617 (+)Ensembl
RefSeq Acc Id: ENST00000430330   ⟹   ENSP00000406636
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl153,014,928 - 53,051,126 (+)Ensembl
RefSeq Acc Id: ENST00000435345   ⟹   ENSP00000396413
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl153,014,968 - 53,051,113 (+)Ensembl
RefSeq Acc Id: ENST00000473584
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl152,963,641 - 52,988,080 (+)Ensembl
RefSeq Acc Id: ENST00000478274   ⟹   ENSP00000437317
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl153,014,966 - 53,048,515 (+)Ensembl
RefSeq Acc Id: ENST00000478631   ⟹   ENSP00000435194
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl152,927,277 - 53,051,401 (+)Ensembl
RefSeq Acc Id: ENST00000484100   ⟹   ENSP00000432645
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl153,014,966 - 53,051,018 (+)Ensembl
RefSeq Acc Id: ENST00000488965   ⟹   ENSP00000435783
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl153,014,974 - 53,051,610 (+)Ensembl
RefSeq Acc Id: ENST00000528311   ⟹   ENSP00000434132
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl152,927,286 - 53,050,903 (+)Ensembl
RefSeq Acc Id: ENST00000528809
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl152,927,380 - 52,976,712 (+)Ensembl
RefSeq Acc Id: ENST00000529363   ⟹   ENSP00000431279
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl152,941,803 - 52,980,453 (+)Ensembl
RefSeq Acc Id: ENST00000533119   ⟹   ENSP00000436581
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl153,014,966 - 53,051,062 (+)Ensembl
RefSeq Acc Id: NM_001007098   ⟹   NP_001007099
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38152,927,276 - 52,994,232 (+)NCBI
GRCh37153,392,901 - 53,517,289 (+)ENTREZGENE
Build 36153,165,536 - 53,232,492 (+)NCBI Archive
HuRef151,508,548 - 51,632,772 (+)ENTREZGENE
CHM1_1153,510,076 - 53,577,063 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001007099   ⟹   NP_001007100
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38153,014,937 - 53,051,698 (+)NCBI
GRCh37153,392,901 - 53,517,289 (+)ENTREZGENE
Build 36153,253,198 - 53,289,870 (+)NCBI Archive
HuRef151,508,548 - 51,632,772 (+)ENTREZGENE
CHM1_1153,597,769 - 53,634,447 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001007100   ⟹   NP_001007101
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38153,014,937 - 53,051,698 (+)NCBI
GRCh37153,392,901 - 53,517,289 (+)ENTREZGENE
Build 36153,253,198 - 53,289,870 (+)NCBI Archive
HuRef151,508,548 - 51,632,772 (+)ENTREZGENE
CHM1_1153,597,769 - 53,634,447 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001007250   ⟹   NP_001007251
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38153,014,937 - 53,051,698 (+)NCBI
GRCh37153,392,901 - 53,517,289 (+)ENTREZGENE
Build 36153,253,198 - 53,289,870 (+)NCBI Archive
HuRef151,508,548 - 51,632,772 (+)ENTREZGENE
CHM1_1153,597,769 - 53,634,447 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001193599   ⟹   NP_001180528
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38152,927,276 - 53,051,698 (+)NCBI
GRCh37153,392,901 - 53,517,289 (+)ENTREZGENE
HuRef151,508,548 - 51,632,772 (+)ENTREZGENE
CHM1_1153,510,076 - 53,634,447 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001193600   ⟹   NP_001180529
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38152,927,276 - 53,051,698 (+)NCBI
GRCh37153,392,901 - 53,517,289 (+)ENTREZGENE
HuRef151,508,548 - 51,632,772 (+)ENTREZGENE
CHM1_1153,510,076 - 53,634,447 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001193617   ⟹   NP_001180546
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38152,927,276 - 53,051,698 (+)NCBI
GRCh37153,392,901 - 53,517,289 (+)ENTREZGENE
HuRef151,508,548 - 51,632,772 (+)ENTREZGENE
CHM1_1153,510,076 - 53,634,447 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001330587   ⟹   NP_001317516
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38152,927,276 - 52,994,232 (+)NCBI
Sequence:
RefSeq Acc Id: NM_002979   ⟹   NP_002970
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38152,927,276 - 53,051,698 (+)NCBI
GRCh37153,392,901 - 53,517,289 (+)ENTREZGENE
Build 36153,165,536 - 53,289,870 (+)NCBI Archive
HuRef151,508,548 - 51,632,772 (+)ENTREZGENE
CHM1_1153,510,076 - 53,634,447 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005271103   ⟹   XP_005271160
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38152,927,286 - 53,051,611 (+)NCBI
GRCh37153,392,901 - 53,517,289 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011541935   ⟹   XP_011540237
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38152,927,286 - 53,003,239 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001007099 (Get FASTA)   NCBI Sequence Viewer  
  NP_001007100 (Get FASTA)   NCBI Sequence Viewer  
  NP_001007101 (Get FASTA)   NCBI Sequence Viewer  
  NP_001007251 (Get FASTA)   NCBI Sequence Viewer  
  NP_001180528 (Get FASTA)   NCBI Sequence Viewer  
  NP_001180529 (Get FASTA)   NCBI Sequence Viewer  
  NP_001180546 (Get FASTA)   NCBI Sequence Viewer  
  NP_001317516 (Get FASTA)   NCBI Sequence Viewer  
  NP_002970 (Get FASTA)   NCBI Sequence Viewer  
  XP_005271160 (Get FASTA)   NCBI Sequence Viewer  
  XP_011540237 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA03557 (Get FASTA)   NCBI Sequence Viewer  
  AAA03558 (Get FASTA)   NCBI Sequence Viewer  
  AAA03559 (Get FASTA)   NCBI Sequence Viewer  
  AAB24921 (Get FASTA)   NCBI Sequence Viewer  
  AAB41286 (Get FASTA)   NCBI Sequence Viewer  
  AAD15001 (Get FASTA)   NCBI Sequence Viewer  
  AAH05911 (Get FASTA)   NCBI Sequence Viewer  
  AAH67108 (Get FASTA)   NCBI Sequence Viewer  
  ADO22217 (Get FASTA)   NCBI Sequence Viewer  
  BAD92026 (Get FASTA)   NCBI Sequence Viewer  
  BAG35708 (Get FASTA)   NCBI Sequence Viewer  
  BAG57810 (Get FASTA)   NCBI Sequence Viewer  
  BAG58208 (Get FASTA)   NCBI Sequence Viewer  
  BAG64455 (Get FASTA)   NCBI Sequence Viewer  
  CCO13809 (Get FASTA)   NCBI Sequence Viewer  
  EAX06760 (Get FASTA)   NCBI Sequence Viewer  
  EAX06761 (Get FASTA)   NCBI Sequence Viewer  
  EAX06762 (Get FASTA)   NCBI Sequence Viewer  
  P22307 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_002970   ⟸   NM_002979
- Peptide Label: isoform 1 precursor
- UniProtKB: P22307 (UniProtKB/Swiss-Prot),   B2R761 (UniProtKB/TrEMBL),   Q59HG9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001180529   ⟸   NM_001193600
- Peptide Label: isoform 6
- UniProtKB: Q59HG9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001180528   ⟸   NM_001193599
- Peptide Label: isoform 7
- UniProtKB: P22307 (UniProtKB/Swiss-Prot),   Q59HG9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001180546   ⟸   NM_001193617
- Peptide Label: isoform 8
- UniProtKB: P22307 (UniProtKB/Swiss-Prot),   Q59HG9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001007099   ⟸   NM_001007098
- Peptide Label: isoform 2
- UniProtKB: P22307 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001007100   ⟸   NM_001007099
- Peptide Label: isoform 5 precursor
- UniProtKB: P22307 (UniProtKB/Swiss-Prot),   Q59HG9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001007251   ⟸   NM_001007250
- Peptide Label: isoform 3
- UniProtKB: P22307 (UniProtKB/Swiss-Prot),   Q59HG9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001007101   ⟸   NM_001007100
- Peptide Label: isoform 4
- UniProtKB: P22307 (UniProtKB/Swiss-Prot),   Q59HG9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005271160   ⟸   XM_005271103
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011540237   ⟸   XM_011541935
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: NP_001317516   ⟸   NM_001330587
- Peptide Label: isoform 9
- UniProtKB: E9PLD1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000360564   ⟸   ENST00000371509
RefSeq Acc Id: ENSP00000360568   ⟸   ENST00000371513
RefSeq Acc Id: ENSP00000360569   ⟸   ENST00000371514
RefSeq Acc Id: ENSP00000437317   ⟸   ENST00000478274
RefSeq Acc Id: ENSP00000435194   ⟸   ENST00000478631
RefSeq Acc Id: ENSP00000436581   ⟸   ENST00000533119
RefSeq Acc Id: ENSP00000406636   ⟸   ENST00000430330
RefSeq Acc Id: ENSP00000432645   ⟸   ENST00000484100
RefSeq Acc Id: ENSP00000384569   ⟸   ENST00000407246
RefSeq Acc Id: ENSP00000386214   ⟸   ENST00000408941
RefSeq Acc Id: ENSP00000435783   ⟸   ENST00000488965
RefSeq Acc Id: ENSP00000434132   ⟸   ENST00000528311
RefSeq Acc Id: ENSP00000396413   ⟸   ENST00000435345
RefSeq Acc Id: ENSP00000431279   ⟸   ENST00000529363
Protein Domains
SCP2   Thiolase_C   Thiolase_N

Promoters
RGD ID:6855574
Promoter ID:EPDNEW_H952
Type:initiation region
Name:SCP2_1
Description:sterol carrier protein 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H953  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38152,927,286 - 52,927,346EPDNEW
RGD ID:6855576
Promoter ID:EPDNEW_H953
Type:initiation region
Name:SCP2_2
Description:sterol carrier protein 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H952  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38153,014,948 - 53,015,008EPDNEW
RGD ID:6785159
Promoter ID:HG_KWN:2779
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000407246,   NM_002979,   UC001CUQ.1,   UC001CUS.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36153,165,351 - 53,165,851 (+)MPROMDB
RGD ID:6786801
Promoter ID:HG_KWN:2783
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001007099,   OTTHUMT00000024741,   OTTHUMT00000024745,   UC001CUT.1,   UC001CUU.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36153,252,961 - 53,253,461 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002979.5(SCP2):c.550dup (p.Ile184fs) duplication Leukoencephalopathy with dystonia and motor neuropathy [RCV000013658] Chr1:52974790..52974791 [GRCh38]
Chr1:53440462..53440463 [GRCh37]
Chr1:1p32.3
pathogenic
NM_002979.5(SCP2):c.1234A>G (p.Ser412Gly) single nucleotide variant not provided [RCV000729872] Chr1:53015042 [GRCh38]
Chr1:53480714 [GRCh37]
Chr1:1p32.3
uncertain significance
NM_002979.5(SCP2):c.1264G>A (p.Val422Ile) single nucleotide variant not provided [RCV000729076] Chr1:53027997 [GRCh38]
Chr1:53493669 [GRCh37]
Chr1:1p32.3
uncertain significance
GRCh38/hg38 1p32.3-31.3(chr1:50222546-61618373)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051819]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051819]|See cases [RCV000051819] Chr1:50222546..61618373 [GRCh38]
Chr1:50688218..62084045 [GRCh37]
Chr1:50460805..61856633 [NCBI36]
Chr1:1p32.3-31.3
pathogenic
GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3 copy number gain See cases [RCV000051822] Chr1:52595352..76767765 [GRCh38]
Chr1:53061024..77233450 [GRCh37]
Chr1:52833612..77006038 [NCBI36]
Chr1:1p32.3-31.1
pathogenic
GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3 copy number gain See cases [RCV000141758] Chr1:52787503..67339873 [GRCh38]
Chr1:53253175..67805556 [GRCh37]
Chr1:53025763..67578144 [NCBI36]
Chr1:1p32.3-31.3
likely pathogenic
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12
likely benign
NM_002979.5(SCP2):c.609A>G (p.Glu203=) single nucleotide variant not provided [RCV000675998]|not specified [RCV000326919] Chr1:52976704 [GRCh38]
Chr1:53442376 [GRCh37]
Chr1:1p32.3
benign
NM_002979.5(SCP2):c.687T>C (p.Asp229=) single nucleotide variant not provided [RCV000861185]|not specified [RCV000296427] Chr1:52978229 [GRCh38]
Chr1:53443901 [GRCh37]
Chr1:1p32.3
benign|likely benign|uncertain significance
NM_002979.5(SCP2):c.648T>C (p.Phe216=) single nucleotide variant not provided [RCV000337005] Chr1:52976743 [GRCh38]
Chr1:53442415 [GRCh37]
Chr1:1p32.3
conflicting interpretations of pathogenicity|uncertain significance
NM_002979.5(SCP2):c.348C>T (p.Val116=) single nucleotide variant not provided [RCV000591670] Chr1:52954756 [GRCh38]
Chr1:53420428 [GRCh37]
Chr1:1p32.3
uncertain significance
NM_002979.5(SCP2):c.555A>G (p.Gly185=) single nucleotide variant not provided [RCV000592321] Chr1:52974800 [GRCh38]
Chr1:53440472 [GRCh37]
Chr1:1p32.3
uncertain significance
NM_002979.5(SCP2):c.1280C>G (p.Ala427Gly) single nucleotide variant not provided [RCV000592703] Chr1:53028013 [GRCh38]
Chr1:53493685 [GRCh37]
Chr1:1p32.3
uncertain significance
NM_002979.5(SCP2):c.900C>T (p.Asp300=) single nucleotide variant not provided [RCV000597467] Chr1:52980470 [GRCh38]
Chr1:53446142 [GRCh37]
Chr1:1p32.3
conflicting interpretations of pathogenicity|uncertain significance
NM_002979.5(SCP2):c.1510T>C (p.Phe504Leu) single nucleotide variant not provided [RCV000730429] Chr1:53047899 [GRCh38]
Chr1:53513571 [GRCh37]
Chr1:1p32.3
uncertain significance
NM_002979.5(SCP2):c.855A>G (p.Ala285=) single nucleotide variant not provided [RCV000597920] Chr1:52980425 [GRCh38]
Chr1:53446097 [GRCh37]
Chr1:1p32.3
uncertain significance
NM_002979.5(SCP2):c.1632C>T (p.Asn544=) single nucleotide variant not provided [RCV000592065] Chr1:53050692 [GRCh38]
Chr1:53516364 [GRCh37]
Chr1:1p32.3
uncertain significance
NM_002979.5(SCP2):c.443T>C (p.Ile148Thr) single nucleotide variant not provided [RCV000729964] Chr1:52961549 [GRCh38]
Chr1:53427221 [GRCh37]
Chr1:1p32.3
uncertain significance
NM_002979.5(SCP2):c.468C>A (p.His156Gln) single nucleotide variant not provided [RCV000730021] Chr1:52961574 [GRCh38]
Chr1:53427246 [GRCh37]
Chr1:1p32.3
uncertain significance
NM_002979.5(SCP2):c.1347A>G (p.Glu449=) single nucleotide variant not provided [RCV000730588] Chr1:53038925 [GRCh38]
Chr1:53504597 [GRCh37]
Chr1:1p32.3
uncertain significance
NM_002979.5(SCP2):c.13C>G (p.Pro5Ala) single nucleotide variant not provided [RCV000731156] Chr1:52927409 [GRCh38]
Chr1:53393081 [GRCh37]
Chr1:1p32.3
uncertain significance
NM_002979.5(SCP2):c.383_391del (p.Ser128_Gly130del) deletion not provided [RCV000730283] Chr1:52954787..52954795 [GRCh38]
Chr1:53420459..53420467 [GRCh37]
Chr1:1p32.3
uncertain significance
NM_002979.5(SCP2):c.15G>T (p.Pro5=) single nucleotide variant not provided [RCV000732286] Chr1:52927411 [GRCh38]
Chr1:53393083 [GRCh37]
Chr1:1p32.3
uncertain significance
NM_002979.5(SCP2):c.532A>G (p.Ile178Val) single nucleotide variant not provided [RCV000734505] Chr1:52974777 [GRCh38]
Chr1:53440449 [GRCh37]
Chr1:1p32.3
uncertain significance
NM_002979.5(SCP2):c.901G>T (p.Val301Leu) single nucleotide variant not provided [RCV000728853] Chr1:52980471 [GRCh38]
Chr1:53446143 [GRCh37]
Chr1:1p32.3
uncertain significance
NM_002979.5(SCP2):c.1074C>T (p.Gly358=) single nucleotide variant not provided [RCV000734819] Chr1:52988129 [GRCh38]
Chr1:53453801 [GRCh37]
Chr1:1p32.3
uncertain significance
NM_002979.5(SCP2):c.157C>T (p.Pro53Ser) single nucleotide variant not provided [RCV000731654] Chr1:52948038 [GRCh38]
Chr1:53413710 [GRCh37]
Chr1:1p32.3
uncertain significance
NM_002979.5(SCP2):c.769C>G (p.Gln257Glu) single nucleotide variant not provided [RCV000732699] Chr1:52978311 [GRCh38]
Chr1:53443983 [GRCh37]
Chr1:1p32.3
uncertain significance
NM_002979.5(SCP2):c.731A>G (p.Lys244Arg) single nucleotide variant not provided [RCV000727981] Chr1:52978273 [GRCh38]
Chr1:53443945 [GRCh37]
Chr1:1p32.3
uncertain significance
GRCh37/hg19 1p32.3(chr1:51729573-55164001)x1 copy number loss See cases [RCV000447334] Chr1:51729573..55164001 [GRCh37]
Chr1:1p32.3
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p32.3(chr1:53370010-54017544)x3 copy number gain See cases [RCV000511590] Chr1:53370010..54017544 [GRCh37]
Chr1:1p32.3
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_002979.5(SCP2):c.825+1G>T single nucleotide variant Leukoencephalopathy with dystonia and motor neuropathy [RCV000578448] Chr1:52978368 [GRCh38]
Chr1:53444040 [GRCh37]
Chr1:1p32.3
likely pathogenic
NM_002979.5(SCP2):c.531A>T (p.Lys177Asn) single nucleotide variant not provided [RCV000595750] Chr1:52974776 [GRCh38]
Chr1:53440448 [GRCh37]
Chr1:1p32.3
uncertain significance
NM_002979.5(SCP2):c.675-6T>C single nucleotide variant not provided [RCV000675999]|not specified [RCV000596489] Chr1:52978211 [GRCh38]
Chr1:53443883 [GRCh37]
Chr1:1p32.3
benign|likely benign
NM_002979.5(SCP2):c.1469-10T>C single nucleotide variant not provided [RCV000597379] Chr1:53047848 [GRCh38]
Chr1:53513520 [GRCh37]
Chr1:1p32.3
conflicting interpretations of pathogenicity|uncertain significance
NM_002979.5(SCP2):c.703A>G (p.Ile235Val) single nucleotide variant not provided [RCV000597463] Chr1:52978245 [GRCh38]
Chr1:53443917 [GRCh37]
Chr1:1p32.3
uncertain significance
NM_002979.5(SCP2):c.928A>G (p.Thr310Ala) single nucleotide variant not provided [RCV000596172] Chr1:52980498 [GRCh38]
Chr1:53446170 [GRCh37]
Chr1:1p32.3
uncertain significance
NM_002979.5(SCP2):c.199G>A (p.Gly67Ser) single nucleotide variant Metachromatic leukodystrophy variant [RCV000626833] Chr1:52948080 [GRCh38]
Chr1:53413752 [GRCh37]
Chr1:1p32.3
uncertain significance
NM_002979.5(SCP2):c.974-18C>T single nucleotide variant not provided [RCV000676000] Chr1:52988011 [GRCh38]
Chr1:53453683 [GRCh37]
Chr1:1p32.3
benign
NM_002979.5(SCP2):c.1235+30G>A single nucleotide variant not provided [RCV000676003] Chr1:53015073 [GRCh38]
Chr1:53480745 [GRCh37]
Chr1:1p32.3
benign
NM_002979.5(SCP2):c.1468+17C>A single nucleotide variant not provided [RCV000676005] Chr1:53039063 [GRCh38]
Chr1:53504735 [GRCh37]
Chr1:1p32.3
benign
NM_002979.5(SCP2):c.*7C>A single nucleotide variant not provided [RCV000676006] Chr1:53050711 [GRCh38]
Chr1:53516383 [GRCh37]
Chr1:1p32.3
benign
NM_002979.5(SCP2):c.1236-16A>G single nucleotide variant not provided [RCV000676004] Chr1:53027953 [GRCh38]
Chr1:53493625 [GRCh37]
Chr1:1p32.3
benign
NM_002979.5(SCP2):c.987G>T (p.Thr329=) single nucleotide variant not provided [RCV000676001] Chr1:52988042 [GRCh38]
Chr1:53453714 [GRCh37]
Chr1:1p32.3
benign
NM_002979.5(SCP2):c.1224G>A (p.Pro408=) single nucleotide variant not provided [RCV000676002] Chr1:53015032 [GRCh38]
Chr1:53480704 [GRCh37]
Chr1:1p32.3
benign
NM_002979.5(SCP2):c.825G>T (p.Met275Ile) single nucleotide variant Leukoencephalopathy with dystonia and motor neuropathy [RCV000709777] Chr1:52978367 [GRCh38]
Chr1:53444039 [GRCh37]
Chr1:1p32.3
not provided
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_002979.5(SCP2):c.1047A>C (p.Gly349=) single nucleotide variant not provided [RCV000982195] Chr1:52988102 [GRCh38]
Chr1:53453774 [GRCh37]
Chr1:1p32.3
likely benign
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1
uncertain significance
NM_002979.5(SCP2):c.128-10G>A single nucleotide variant not provided [RCV000861569] Chr1:52947999 [GRCh38]
Chr1:53413671 [GRCh37]
Chr1:1p32.3
likely benign
NM_002979.5(SCP2):c.1344G>A (p.Gly448=) single nucleotide variant not provided [RCV000938909] Chr1:53038922 [GRCh38]
Chr1:53504594 [GRCh37]
Chr1:1p32.3
likely benign
GRCh37/hg19 1p32.3(chr1:53039602-53734721)x3 copy number gain not provided [RCV001005094] Chr1:53039602..53734721 [GRCh37]
Chr1:1p32.3
likely benign
NM_002979.5(SCP2):c.70-47del deletion Leukoencephalopathy with dystonia and motor neuropathy [RCV000986321] Chr1:52941735 [GRCh38]
Chr1:53407407 [GRCh37]
Chr1:1p32.3
benign
NM_002979.5(SCP2):c.203A>G (p.Asp68Gly) single nucleotide variant not provided [RCV000994004] Chr1:52950758 [GRCh38]
Chr1:53416430 [GRCh37]
Chr1:1p32.3
uncertain significance
NM_002979.5(SCP2):c.55G>C (p.Val19Leu) single nucleotide variant not provided [RCV001041032] Chr1:52927451 [GRCh38]
Chr1:53393123 [GRCh37]
Chr1:1p32.3
uncertain significance
NM_002979.5(SCP2):c.886C>T (p.Pro296Ser) single nucleotide variant Leukoencephalopathy with dystonia and motor neuropathy [RCV001254819] Chr1:52980456 [GRCh38]
Chr1:53446128 [GRCh37]
Chr1:1p32.3
uncertain significance
NM_002979.5(SCP2):c.1148G>C (p.Gly383Ala) single nucleotide variant not provided [RCV001350361] Chr1:53014956 [GRCh38]
Chr1:53480628 [GRCh37]
Chr1:1p32.3
uncertain significance
NM_002979.5(SCP2):c.1111C>T (p.Gln371Ter) single nucleotide variant Leukoencephalopathy with dystonia and motor neuropathy [RCV001336527] Chr1:53014919 [GRCh38]
Chr1:53480591 [GRCh37]
Chr1:1p32.3
pathogenic
GRCh37/hg19 1p32.3-32.2(chr1:51941877-56688514) copy number loss Abnormality of the kidney [RCV001352641] Chr1:51941877..56688514 [GRCh37]
Chr1:1p32.3-32.2
pathogenic
NM_002979.5(SCP2):c.539A>G (p.His180Arg) single nucleotide variant not provided [RCV001318197] Chr1:52974784 [GRCh38]
Chr1:53440456 [GRCh37]
Chr1:1p32.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10606 AgrOrtholog
COSMIC SCP2 COSMIC
Ensembl Genes ENSG00000116171 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000360564 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000360568 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000360569 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000384569 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000386214 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000396413 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000406636 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000431279 UniProtKB/TrEMBL
  ENSP00000432645 UniProtKB/TrEMBL
  ENSP00000434132 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000435194 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000435783 UniProtKB/Swiss-Prot
  ENSP00000436581 UniProtKB/TrEMBL
  ENSP00000437317 UniProtKB/TrEMBL
Ensembl Transcript ENST00000371509 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000371513 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000371514 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000407246 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000408941 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000430330 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000435345 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000478274 UniProtKB/TrEMBL
  ENST00000478631 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000484100 UniProtKB/TrEMBL
  ENST00000488965 UniProtKB/Swiss-Prot
  ENST00000528311 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000529363 UniProtKB/TrEMBL
  ENST00000533119 UniProtKB/TrEMBL
Gene3D-CATH 3.30.1050.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.47.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000116171 GTEx
HGNC ID HGNC:10606 ENTREZGENE
Human Proteome Map SCP2 Human Proteome Map
InterPro SCP2_sterol-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SCP2_sterol-bd_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Thiolase UniProtKB/TrEMBL
  Thiolase-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Thiolase_acyl_enz_int_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Thiolase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Thiolase_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Thiolase_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6342 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 6342 ENTREZGENE
OMIM 184755 OMIM
  613724 OMIM
Pfam SCP2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Thiolase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Thiolase_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA35014 PharmGKB
PIRSF Ac-CoA_Ac_transf UniProtKB/TrEMBL
PROSITE THIOLASE_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  THIOLASE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53901 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF55718 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A384NY87_HUMAN UniProtKB/TrEMBL
  B2R761 ENTREZGENE, UniProtKB/TrEMBL
  E9PLD1 ENTREZGENE, UniProtKB/TrEMBL
  H0YCB0_HUMAN UniProtKB/TrEMBL
  H0YD06_HUMAN UniProtKB/TrEMBL
  H0YEU8_HUMAN UniProtKB/TrEMBL
  H0YF61_HUMAN UniProtKB/TrEMBL
  L0R5C7_HUMAN UniProtKB/TrEMBL
  NLTP_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q59HG9 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary A6NM69 UniProtKB/Swiss-Prot
  B4DGJ9 UniProtKB/Swiss-Prot
  B4DHP6 UniProtKB/Swiss-Prot
  C9JC79 UniProtKB/Swiss-Prot
  D3DQ37 UniProtKB/Swiss-Prot
  E1B6W5 UniProtKB/Swiss-Prot
  F2Z3J1 UniProtKB/Swiss-Prot
  Q15432 UniProtKB/Swiss-Prot
  Q16622 UniProtKB/Swiss-Prot
  Q5VVZ1 UniProtKB/Swiss-Prot
  Q6NXF4 UniProtKB/Swiss-Prot
  Q99430 UniProtKB/Swiss-Prot