CYP2S1 (cytochrome P450 family 2 subfamily S member 1) - Rat Genome Database

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Gene: CYP2S1 (cytochrome P450 family 2 subfamily S member 1) Homo sapiens
Analyze
Symbol: CYP2S1
Name: cytochrome P450 family 2 subfamily S member 1
RGD ID: 1314487
HGNC Page HGNC:15654
Description: Enables hydro-lyase activity; monooxygenase activity; and thromboxane-A synthase activity. Involved in prostaglandin metabolic process and retinoic acid metabolic process. Located in endoplasmic reticulum.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CYPIIS1; cytochrome P450 2S1; cytochrome P450, family 2, subfamily S, polypeptide 1; cytochrome P450, subfamily IIS, polypeptide 1; cytochrome P540, subfamily IIS, polypeptide 1; hydroperoxy icosatetraenoate dehydratase; thromboxane-A synthase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381941,193,219 - 41,207,539 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1941,193,210 - 41,207,539 (+)EnsemblGRCh38hg38GRCh38
GRCh371941,699,124 - 41,713,444 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361946,390,955 - 46,405,284 (+)NCBINCBI36Build 36hg18NCBI36
Build 341946,390,954 - 46,405,283NCBI
Celera1938,499,270 - 38,513,599 (+)NCBICelera
Cytogenetic Map19q13.2NCBI
HuRef1938,131,135 - 38,145,468 (+)NCBIHuRef
CHM1_11941,698,871 - 41,713,172 (+)NCBICHM1_1
T2T-CHM13v2.01944,013,177 - 44,028,420 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2-hydroxypropanoic acid  (EXP)
2-naphthylamine  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3-methylcholanthrene  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-fluorouracil  (ISO)
7,12-dimethyltetraphene  (EXP)
actinomycin D  (EXP,ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP,ISO)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
atrazine  (ISO)
azathioprine  (EXP)
beclomethasone  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
Benzo[a]pyrene-7,8-diol  (EXP)
beta-naphthoflavone  (ISO)
biphenyl-4-amine  (EXP)
bis(2-chloroethyl) sulfide  (EXP)
bisphenol A  (EXP,ISO)
butanal  (EXP)
cadmium dichloride  (ISO)
calcitriol  (EXP)
carbon nanotube  (ISO)
cisplatin  (EXP)
cortisol  (EXP)
cumene hydroperoxide  (EXP)
Cuprizon  (ISO)
cyclosporin A  (EXP,ISO)
dexamethasone  (EXP)
dextran sulfate  (ISO)
diazinon  (EXP)
dibenz[a,h]anthracene  (ISO)
dioxygen  (EXP)
disodium selenite  (EXP)
dorsomorphin  (EXP)
entinostat  (EXP)
etoposide  (ISO)
flunisolide  (EXP)
genistein  (ISO)
glyphosate  (ISO)
hydrogen peroxide  (EXP)
hydroxylamine  (EXP)
ivermectin  (EXP)
methoxyacetic acid  (ISO)
Monobutylphthalate  (ISO)
naphthalene  (EXP)
Nutlin-3  (EXP)
obeticholic acid  (EXP)
ozone  (ISO)
paracetamol  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorooctanoic acid  (EXP)
pirinixic acid  (ISO)
prednisolone  (EXP)
quercetin  (EXP)
rac-lactic acid  (EXP)
rifampicin  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (EXP,ISO)
succimer  (ISO)
tamoxifen  (ISO)
testosterone  (EXP)
titanium dioxide  (ISO)
triamcinolone acetonide  (EXP)
tributylstannane  (ISO)
trichostatin A  (EXP)
tris(2-butoxyethyl) phosphate  (EXP)
valproic acid  (EXP,ISO)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:7566098   PMID:11181079   PMID:12477932   PMID:12711469   PMID:12721789   PMID:12975309   PMID:14702039   PMID:15128046   PMID:15342556   PMID:15450424   PMID:15489334   PMID:17277313  
PMID:17280660   PMID:17495422   PMID:17529885   PMID:19343046   PMID:19368491   PMID:19713358   PMID:21068195   PMID:21319273   PMID:21430234   PMID:21516116   PMID:21873635   PMID:22039172  
PMID:22232929   PMID:22863683   PMID:23224081   PMID:23648403   PMID:23682735   PMID:23933117   PMID:24279958   PMID:25416956   PMID:25557876   PMID:26186194   PMID:27609465   PMID:28514442  
PMID:30019995   PMID:32296183   PMID:32385743   PMID:32913191   PMID:32924783   PMID:33022573   PMID:33377261   PMID:33845483   PMID:33961781   PMID:34275895   PMID:35256949   PMID:35535391  
PMID:35902379   PMID:35993436   PMID:36949045  


Genomics

Comparative Map Data
CYP2S1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381941,193,219 - 41,207,539 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1941,193,210 - 41,207,539 (+)EnsemblGRCh38hg38GRCh38
GRCh371941,699,124 - 41,713,444 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361946,390,955 - 46,405,284 (+)NCBINCBI36Build 36hg18NCBI36
Build 341946,390,954 - 46,405,283NCBI
Celera1938,499,270 - 38,513,599 (+)NCBICelera
Cytogenetic Map19q13.2NCBI
HuRef1938,131,135 - 38,145,468 (+)NCBIHuRef
CHM1_11941,698,871 - 41,713,172 (+)NCBICHM1_1
T2T-CHM13v2.01944,013,177 - 44,028,420 (+)NCBIT2T-CHM13v2.0
Cyp2s1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39725,501,894 - 25,515,950 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl725,501,900 - 25,516,338 (-)EnsemblGRCm39 Ensembl
GRCm38725,802,469 - 25,816,525 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl725,802,475 - 25,816,913 (-)EnsemblGRCm38mm10GRCm38
MGSCv37726,587,495 - 26,601,549 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36725,511,236 - 25,525,290 (-)NCBIMGSCv36mm8
Celera720,411,576 - 20,425,630 (-)NCBICelera
Cytogenetic Map7A3NCBI
cM Map714.05NCBI
Cyp2s1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8190,437,741 - 90,453,073 (-)NCBIGRCr8
mRatBN7.2181,309,948 - 81,325,303 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl181,310,451 - 81,325,303 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx186,702,625 - 86,717,474 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0195,253,992 - 95,269,028 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0188,458,434 - 88,473,284 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0182,595,211 - 82,610,350 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl182,595,211 - 82,610,350 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0183,854,677 - 83,868,967 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4181,008,464 - 81,023,486 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1181,087,648 - 81,101,775 (-)NCBI
Celera175,748,428 - 75,763,207 (-)NCBICelera
Cytogenetic Map1q21NCBI
LOC102010839
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955555168,139 - 182,196 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955555167,634 - 183,572 (+)NCBIChiLan1.0ChiLan1.0
CYP2S1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22047,403,087 - 47,417,496 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11949,271,326 - 49,285,734 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01938,185,893 - 38,200,064 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11946,692,906 - 46,707,004 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1946,693,025 - 46,705,950 (+)Ensemblpanpan1.1panPan2
CYP2S1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11112,735,586 - 112,747,534 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1112,736,706 - 112,747,555 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1112,138,862 - 112,150,468 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01113,333,336 - 113,344,950 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.11112,894,082 - 112,905,643 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01112,526,640 - 112,538,235 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01113,519,846 - 113,531,479 (-)NCBIUU_Cfam_GSD_1.0
CYP2S1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl649,221,763 - 49,235,330 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1649,221,361 - 49,235,335 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2644,925,122 - 44,935,474 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CYP2S1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1635,512,559 - 35,521,775 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366607313,709,718 - 13,726,006 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
LOC101700677
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462490757,276 - 67,275 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462490757,749 - 67,274 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CYP2S1
43 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3 copy number gain See cases [RCV000050636] Chr19:37319377..42738688 [GRCh38]
Chr19:37810279..43242840 [GRCh37]
Chr19:42502119..47934680 [NCBI36]
Chr19:19q13.12-13.2
pathogenic
NM_030622.7(CYP2S1):c.1365C>T (p.Thr455=) single nucleotide variant Malignant melanoma [RCV000072162] Chr19:41206338 [GRCh38]
Chr19:41712243 [GRCh37]
Chr19:46404083 [NCBI36]
Chr19:19q13.2
not provided
NM_030622.7(CYP2S1):c.856G>A (p.Glu286Lys) single nucleotide variant Malignant melanoma [RCV000063547] Chr19:41201252 [GRCh38]
Chr19:41707157 [GRCh37]
Chr19:46398997 [NCBI36]
Chr19:19q13.2
not provided
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 copy number gain See cases [RCV000133888] Chr19:11227942..44626354 [GRCh38]
Chr19:11338618..45129651 [GRCh37]
Chr19:11199618..49821491 [NCBI36]
Chr19:19p13.2-q13.31
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
NM_030622.8(CYP2S1):c.302G>A (p.Arg101Gln) single nucleotide variant not specified [RCV004333021] Chr19:41194668 [GRCh38]
Chr19:41700573 [GRCh37]
Chr19:19q13.2
uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19q13.2(chr19:41680526-41715351)x3 copy number gain not provided [RCV000740164] Chr19:41680526..41715351 [GRCh37]
Chr19:19q13.2
benign
NM_030622.8(CYP2S1):c.423G>A (p.Gly141=) single nucleotide variant not provided [RCV000970905] Chr19:41197858 [GRCh38]
Chr19:41703763 [GRCh37]
Chr19:19q13.2
benign
NM_030622.8(CYP2S1):c.1059C>T (p.Thr353=) single nucleotide variant not provided [RCV000888259] Chr19:41203532 [GRCh38]
Chr19:41709437 [GRCh37]
Chr19:19q13.2
benign
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3 copy number gain not provided [RCV000845733] Chr19:28271106..49213832 [GRCh37]
Chr19:19q11-13.33
pathogenic
GRCh37/hg19 19q13.2(chr19:41304025-41928997)x3 copy number gain not provided [RCV001007048] Chr19:41304025..41928997 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_030622.8(CYP2S1):c.1406C>T (p.Pro469Leu) single nucleotide variant not specified [RCV004608520] Chr19:41206379 [GRCh38]
Chr19:41712284 [GRCh37]
Chr19:19q13.2
likely benign
NM_030622.8(CYP2S1):c.281A>G (p.Gln94Arg) single nucleotide variant not specified [RCV004608521] Chr19:41194647 [GRCh38]
Chr19:41700552 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_030622.8(CYP2S1):c.790C>A (p.Pro264Thr) single nucleotide variant not specified [RCV004608522] Chr19:41198844 [GRCh38]
Chr19:41704749 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_030622.8(CYP2S1):c.88G>T (p.Gly30Cys) single nucleotide variant not specified [RCV004608526] Chr19:41193352 [GRCh38]
Chr19:41699257 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_030622.8(CYP2S1):c.508C>T (p.Pro170Ser) single nucleotide variant not specified [RCV004608527] Chr19:41198476 [GRCh38]
Chr19:41704381 [GRCh37]
Chr19:19q13.2
uncertain significance
NC_000019.9:g.(?_39904727)_(42931301_?)dup duplication Diamond-Blackfan anemia [RCV003122291]|MEGF8-related Carpenter syndrome [RCV003105286]|Maple syrup urine disease [RCV003105287]|TWIST1-related craniosynostosis [RCV003105285] Chr19:39904727..42931301 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_030622.8(CYP2S1):c.1399T>C (p.Cys467Arg) single nucleotide variant not specified [RCV004608519] Chr19:41206372 [GRCh38]
Chr19:41712277 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_030622.8(CYP2S1):c.749G>A (p.Arg250Gln) single nucleotide variant not specified [RCV004608523] Chr19:41198803 [GRCh38]
Chr19:41704708 [GRCh37]
Chr19:19q13.2
likely benign
NM_030622.8(CYP2S1):c.709C>T (p.Leu237Phe) single nucleotide variant not specified [RCV004608524] Chr19:41198763 [GRCh38]
Chr19:41704668 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_030622.8(CYP2S1):c.523G>C (p.Ala175Pro) single nucleotide variant not specified [RCV004161758] Chr19:41198491 [GRCh38]
Chr19:41704396 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_030622.8(CYP2S1):c.226C>T (p.Arg76Trp) single nucleotide variant not specified [RCV004167600] Chr19:41194592 [GRCh38]
Chr19:41700497 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_030622.8(CYP2S1):c.428G>A (p.Arg143Gln) single nucleotide variant not provided [RCV004696274]|not specified [RCV004234116] Chr19:41197863 [GRCh38]
Chr19:41703768 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_030622.8(CYP2S1):c.71C>T (p.Ser24Phe) single nucleotide variant not specified [RCV004145995] Chr19:41193335 [GRCh38]
Chr19:41699240 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_030622.8(CYP2S1):c.1478G>A (p.Arg493His) single nucleotide variant not specified [RCV004198543] Chr19:41206451 [GRCh38]
Chr19:41712356 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_030622.8(CYP2S1):c.23C>T (p.Ala8Val) single nucleotide variant not specified [RCV004232892] Chr19:41193287 [GRCh38]
Chr19:41699192 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_030622.8(CYP2S1):c.1130G>A (p.Arg377Gln) single nucleotide variant not specified [RCV004134310] Chr19:41203603 [GRCh38]
Chr19:41709508 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_030622.8(CYP2S1):c.199G>T (p.Val67Leu) single nucleotide variant not specified [RCV004198756] Chr19:41194565 [GRCh38]
Chr19:41700470 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_030622.8(CYP2S1):c.298G>A (p.Gly100Ser) single nucleotide variant not specified [RCV004218207] Chr19:41194664 [GRCh38]
Chr19:41700569 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_030622.8(CYP2S1):c.1313G>A (p.Arg438His) single nucleotide variant not specified [RCV004078484] Chr19:41206286 [GRCh38]
Chr19:41712191 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_030622.8(CYP2S1):c.55C>A (p.Leu19Met) single nucleotide variant not specified [RCV004183982] Chr19:41193319 [GRCh38]
Chr19:41699224 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_030622.8(CYP2S1):c.1467G>C (p.Gln489His) single nucleotide variant not specified [RCV004211232] Chr19:41206440 [GRCh38]
Chr19:41712345 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_030622.8(CYP2S1):c.1223A>T (p.His408Leu) single nucleotide variant not specified [RCV004168400] Chr19:41206016 [GRCh38]
Chr19:41711921 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_030622.8(CYP2S1):c.934G>A (p.Gly312Ser) single nucleotide variant not specified [RCV004241994] Chr19:41201330 [GRCh38]
Chr19:41707235 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_030622.8(CYP2S1):c.409G>A (p.Asp137Asn) single nucleotide variant not specified [RCV004157353] Chr19:41197844 [GRCh38]
Chr19:41703749 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_030622.8(CYP2S1):c.1453C>T (p.Pro485Ser) single nucleotide variant not specified [RCV004277554] Chr19:41206426 [GRCh38]
Chr19:41712331 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_030622.8(CYP2S1):c.775C>G (p.Leu259Val) single nucleotide variant not specified [RCV004249349] Chr19:41198829 [GRCh38]
Chr19:41704734 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_030622.8(CYP2S1):c.1246C>T (p.Arg416Cys) single nucleotide variant not specified [RCV004257119] Chr19:41206039 [GRCh38]
Chr19:41711944 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_030622.8(CYP2S1):c.1105A>G (p.Met369Val) single nucleotide variant not specified [RCV004276691] Chr19:41203578 [GRCh38]
Chr19:41709483 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_030622.8(CYP2S1):c.782C>T (p.Ala261Val) single nucleotide variant not specified [RCV004275160] Chr19:41198836 [GRCh38]
Chr19:41704741 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_030622.8(CYP2S1):c.470T>C (p.Val157Ala) single nucleotide variant not specified [RCV004351718] Chr19:41197905 [GRCh38]
Chr19:41703810 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_030622.8(CYP2S1):c.947T>C (p.Leu316Pro) single nucleotide variant not specified [RCV004343782] Chr19:41201343 [GRCh38]
Chr19:41707248 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_030622.8(CYP2S1):c.197C>T (p.Pro66Leu) single nucleotide variant not specified [RCV004337923] Chr19:41194563 [GRCh38]
Chr19:41700468 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_030622.8(CYP2S1):c.607C>T (p.Arg203Trp) single nucleotide variant not specified [RCV004361960] Chr19:41198575 [GRCh38]
Chr19:41704480 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_030622.8(CYP2S1):c.771G>C (p.Gly257=) single nucleotide variant not provided [RCV003406986] Chr19:41198825 [GRCh38]
Chr19:41704730 [GRCh37]
Chr19:19q13.2
likely benign
NM_030622.8(CYP2S1):c.1407G>A (p.Pro469=) single nucleotide variant not provided [RCV003406987] Chr19:41206380 [GRCh38]
Chr19:41712285 [GRCh37]
Chr19:19q13.2
likely benign
NM_030622.8(CYP2S1):c.178C>T (p.Leu60=) single nucleotide variant not specified [RCV004367978] Chr19:41194544 [GRCh38]
Chr19:41700449 [GRCh37]
Chr19:19q13.2
likely benign
NM_030622.8(CYP2S1):c.1135A>C (p.Thr379Pro) single nucleotide variant not specified [RCV004367974] Chr19:41203608 [GRCh38]
Chr19:41709513 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_030622.8(CYP2S1):c.1478G>T (p.Arg493Leu) single nucleotide variant not specified [RCV004367977] Chr19:41206451 [GRCh38]
Chr19:41712356 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_030622.8(CYP2S1):c.13G>A (p.Gly5Ser) single nucleotide variant not specified [RCV004367976] Chr19:41193277 [GRCh38]
Chr19:41699182 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_030622.8(CYP2S1):c.430G>C (p.Glu144Gln) single nucleotide variant not specified [RCV004370429] Chr19:41197865 [GRCh38]
Chr19:41703770 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_030622.8(CYP2S1):c.911C>T (p.Thr304Met) single nucleotide variant not specified [RCV004370432] Chr19:41201307 [GRCh38]
Chr19:41707212 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_030622.8(CYP2S1):c.988G>C (p.Glu330Gln) single nucleotide variant not specified [RCV004370433] Chr19:41203461 [GRCh38]
Chr19:41709366 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_030622.8(CYP2S1):c.1247G>A (p.Arg416His) single nucleotide variant not specified [RCV004367975] Chr19:41206040 [GRCh38]
Chr19:41711945 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_030622.8(CYP2S1):c.436G>A (p.Glu146Lys) single nucleotide variant not specified [RCV004370430] Chr19:41197871 [GRCh38]
Chr19:41703776 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_030622.8(CYP2S1):c.1036G>T (p.Asp346Tyr) single nucleotide variant not specified [RCV004367973] Chr19:41203509 [GRCh38]
Chr19:41709414 [GRCh37]
Chr19:19q13.2
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2586
Count of miRNA genes:768
Interacting mature miRNAs:863
Transcripts:ENST00000310054, ENST00000542619, ENST00000593545, ENST00000593890, ENST00000595590, ENST00000597754, ENST00000600561
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1559110SCL22_HSerum cholesterol level QTL 22 (human)3.590.000241Lipid levelLDL cholesterol193190759457907594Human
407016432GWAS665408_Hneutrophil count QTL GWAS665408 (human)7e-10neutrophil quantity (VT:0000222)blood neutrophil count (CMO:0000030)194120570341205704Human
407060327GWAS709303_HNasal Cavity Polyp QTL GWAS709303 (human)6e-11Nasal Cavity Polyp194119562341195624Human
406985655GWAS634631_HNasal Cavity Polyp QTL GWAS634631 (human)2e-18Nasal Cavity Polyp194119839941198400Human
406976612GWAS625588_HNasal Cavity Polyp QTL GWAS625588 (human)2e-10Nasal Cavity Polyp194119839941198400Human
407005509GWAS654485_Hneutrophil count QTL GWAS654485 (human)6e-11neutrophil quantity (VT:0000222)white blood cell count (CMO:0000027)194120570341205704Human
407138877GWAS787853_Hosteoarthritis QTL GWAS787853 (human)3e-09osteoarthritis194120708441207085Human
407215038GWAS864014_HNasal Cavity Polyp QTL GWAS864014 (human)6e-13Nasal Cavity Polyp194119839941198400Human
406977002GWAS625978_Hnasal disorder QTL GWAS625978 (human)0.0000007nasal disorder194119839941198400Human
407132312GWAS781288_Hosteoarthritis QTL GWAS781288 (human)2e-08osteoarthritis194120708441207085Human
1331657COPD9_HChronic obstructive pulmonary disease QTL 9 (human)1.94Chronic airflow obstructionpost-bronchodilator FEV1193102176057021760Human

Markers in Region
RH92207  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371941,713,272 - 41,713,405UniSTSGRCh37
Build 361946,405,112 - 46,405,245RGDNCBI36
Celera1938,513,427 - 38,513,560RGD
Cytogenetic Map19q13.1UniSTS
HuRef1938,145,296 - 38,145,429UniSTS
GeneMap99-GB4 RH Map19238.07UniSTS
CYP2S1_2466  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371941,712,462 - 41,713,157UniSTSGRCh37
Build 361946,404,302 - 46,404,997RGDNCBI36
Celera1938,512,617 - 38,513,312RGD
HuRef1938,144,486 - 38,145,181UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2433 2753 2223 4915 1720 2303 5 623 1710 464 2243 7011 6220 48 3693 1 843 1734 1569 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_030622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047438711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054320760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054320761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_935812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA316622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC011510 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF335278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP284240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX422464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459710 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000310054   ⟹   ENSP00000308032
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1941,193,219 - 41,207,539 (+)Ensembl
Ensembl Acc Id: ENST00000593545   ⟹   ENSP00000472555
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1941,193,239 - 41,206,917 (+)Ensembl
Ensembl Acc Id: ENST00000593890   ⟹   ENSP00000469850
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1941,201,293 - 41,206,567 (+)Ensembl
Ensembl Acc Id: ENST00000595590   ⟹   ENSP00000469593
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1941,193,722 - 41,206,308 (+)Ensembl
Ensembl Acc Id: ENST00000597754   ⟹   ENSP00000471637
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1941,193,210 - 41,205,975 (+)Ensembl
Ensembl Acc Id: ENST00000600561   ⟹   ENSP00000471016
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1941,193,247 - 41,201,299 (+)Ensembl
RefSeq Acc Id: NM_030622   ⟹   NP_085125
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381941,193,219 - 41,207,539 (+)NCBI
GRCh371941,699,115 - 41,713,444 (+)ENTREZGENE
Build 361946,390,955 - 46,405,284 (+)NCBI Archive
HuRef1938,131,135 - 38,145,468 (+)ENTREZGENE
CHM1_11941,698,868 - 41,713,172 (+)NCBI
T2T-CHM13v2.01944,014,127 - 44,028,420 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047438711   ⟹   XP_047294667
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381941,193,219 - 41,206,093 (+)NCBI
RefSeq Acc Id: XM_054320760   ⟹   XP_054176735
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01944,013,177 - 44,028,420 (+)NCBI
RefSeq Acc Id: XM_054320761   ⟹   XP_054176736
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01944,014,127 - 44,026,974 (+)NCBI
RefSeq Acc Id: NP_085125   ⟸   NM_030622
- Peptide Label: precursor
- UniProtKB: Q9BZ66 (UniProtKB/Swiss-Prot),   Q96SQ9 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000469593   ⟸   ENST00000595590
Ensembl Acc Id: ENSP00000471637   ⟸   ENST00000597754
Ensembl Acc Id: ENSP00000308032   ⟸   ENST00000310054
Ensembl Acc Id: ENSP00000471016   ⟸   ENST00000600561
Ensembl Acc Id: ENSP00000469850   ⟸   ENST00000593890
Ensembl Acc Id: ENSP00000472555   ⟸   ENST00000593545
RefSeq Acc Id: XP_047294667   ⟸   XM_047438711
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054176735   ⟸   XM_054320760
- Peptide Label: isoform X2
- UniProtKB: Q96SQ9 (UniProtKB/Swiss-Prot),   Q9BZ66 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054176736   ⟸   XM_054320761
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96SQ9-F1-model_v2 AlphaFold Q96SQ9 1-504 view protein structure

Promoters
RGD ID:7240041
Promoter ID:EPDNEW_H25766
Type:initiation region
Name:CYP2S1_2
Description:cytochrome P450 family 2 subfamily S member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25767  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381941,192,913 - 41,192,973EPDNEW
RGD ID:7240043
Promoter ID:EPDNEW_H25767
Type:initiation region
Name:CYP2S1_1
Description:cytochrome P450 family 2 subfamily S member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25766  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381941,193,239 - 41,193,299EPDNEW
RGD ID:6795455
Promoter ID:HG_KWN:30011
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562
Transcripts:ENST00000301173,   NM_030622
Position:
Human AssemblyChrPosition (strand)Source
Build 361946,390,776 - 46,391,276 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:15654 AgrOrtholog
COSMIC CYP2S1 COSMIC
Ensembl Genes ENSG00000167600 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000310054 ENTREZGENE
  ENST00000310054.9 UniProtKB/Swiss-Prot
  ENST00000593545.5 UniProtKB/TrEMBL
  ENST00000593890.1 UniProtKB/TrEMBL
  ENST00000595590.1 UniProtKB/TrEMBL
  ENST00000597754.1 UniProtKB/TrEMBL
  ENST00000600561.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.630.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000167600 GTEx
HGNC ID HGNC:15654 ENTREZGENE
Human Proteome Map CYP2S1 Human Proteome Map
InterPro Cyt_P450 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cyt_P450_CS UniProtKB/Swiss-Prot
  Cyt_P450_E_grp-I UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cyt_P450_E_grp-I_CYP2A-like UniProtKB/Swiss-Prot
  Cyt_P450_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cytochrome_P450_fam2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:29785 UniProtKB/Swiss-Prot
NCBI Gene 29785 ENTREZGENE
OMIM 611529 OMIM
PANTHER CYTOCHROME P450 2S1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CYTOCHROME P450 508A4-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam p450 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB CYP2S1 RGD, PharmGKB
PRINTS EP450I UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EP450ICYP2A UniProtKB/Swiss-Prot
  P450 UniProtKB/Swiss-Prot
PROSITE CYTOCHROME_P450 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF48264 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt CP2S1_HUMAN UniProtKB/Swiss-Prot
  M0QY51_HUMAN UniProtKB/TrEMBL
  M0QYI2_HUMAN UniProtKB/TrEMBL
  M0R057_HUMAN UniProtKB/TrEMBL
  M0R152_HUMAN UniProtKB/TrEMBL
  M0R2G8_HUMAN UniProtKB/TrEMBL
  Q96SQ9 ENTREZGENE
  Q9BZ66 ENTREZGENE
UniProt Secondary Q9BZ66 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-15 CYP2S1  cytochrome P450 family 2 subfamily S member 1  CYP2S1  cytochrome P450, family 2, subfamily S, polypeptide 1  Symbol and/or name change 5135510 APPROVED