S1PR5 (sphingosine-1-phosphate receptor 5) - Rat Genome Database

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Gene: S1PR5 (sphingosine-1-phosphate receptor 5) Homo sapiens
Analyze
Symbol: S1PR5
Name: sphingosine-1-phosphate receptor 5
RGD ID: 733271
HGNC Page HGNC:14299
Description: Predicted to enable G protein-coupled receptor activity. Predicted to be involved in adenylate cyclase-activating G protein-coupled receptor signaling pathway and regulation of metabolic process. Predicted to be located in membrane. Predicted to be active in cytoplasm; plasma membrane; and presynapse.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: Edg-8; EDG8; endothelial differentiation G-protein-coupled receptor 8; endothelial differentiation, sphingolipid G-protein-coupled receptor, 8; S1P receptor 5; S1P receptor Edg-8; S1P5; sphingosine 1-phosphate receptor 5; sphingosine 1-phosphate receptor Edg-8; sphingosine 1-phosphate receptor EDG8; SPPR-1; SPPR-2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
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
GRCh381910,512,742 - 10,517,965 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1910,512,742 - 10,517,931 (-)EnsemblGRCh38hg38GRCh38
GRCh371910,623,418 - 10,628,641 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361910,484,623 - 10,489,112 (-)NCBINCBI36Build 36hg18NCBI36
Build 341910,484,622 - 10,489,112NCBI
Celera1910,518,131 - 10,523,388 (-)NCBICelera
Cytogenetic Map19p13.2NCBI
HuRef1910,201,961 - 10,207,399 (-)NCBIHuRef
CHM1_11910,624,176 - 10,629,433 (-)NCBICHM1_1
T2T-CHM13v2.01910,639,179 - 10,644,407 (-)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->4)-beta-D-glucan  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
3,3',4,4'-tetrachlorobiphenyl  (ISO)
5-aza-2'-deoxycytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP)
aldehydo-D-glucose  (ISO)
ammonium chloride  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
Benzo[k]fluoranthene  (ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (ISO)
bleomycin A2  (ISO)
cannabidiol  (EXP)
carbon nanotube  (ISO)
chloroprene  (ISO)
cisplatin  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
Cuprizon  (ISO)
D-glucose  (ISO)
diallyl disulfide  (EXP)
Diallyl sulfide  (EXP)
diarsenic trioxide  (EXP)
Dibutyl phosphate  (EXP)
dorsomorphin  (EXP)
entinostat  (EXP)
ethanol  (ISO)
fenvalerate  (ISO)
formaldehyde  (EXP)
genistein  (ISO)
gentamycin  (ISO)
glucose  (ISO)
glycidol  (ISO)
hydrogen peroxide  (EXP)
inulin  (ISO)
lipopolysaccharide  (EXP)
methylmercury chloride  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
nitrates  (ISO)
ozone  (ISO)
panobinostat  (EXP)
paracetamol  (ISO)
parathion  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
rotenone  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
silicon dioxide  (ISO)
sodium arsenite  (ISO)
sphingosine 1-phosphate  (EXP)
streptozocin  (ISO)
sulforaphane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
triphenyl phosphate  (EXP)
valproic acid  (EXP)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IBA)
membrane  (IEA)
plasma membrane  (IBA,IEA,TAS)
presynapse  (IEA,ISO)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Characterization of a novel sphingosine 1-phosphate receptor, Edg-8. Im DS, etal., J Biol Chem 2000 May 12;275(19):14281-6.
3. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
Additional References at PubMed
PMID:2834384   PMID:11069896   PMID:11705398   PMID:12044878   PMID:12234605   PMID:12427546   PMID:12477932   PMID:12648236   PMID:14702039   PMID:15057824   PMID:15489334   PMID:15530552  
PMID:16303743   PMID:16344560   PMID:17918267   PMID:18577758   PMID:19211033   PMID:19474291   PMID:20085233   PMID:20950786   PMID:21873635   PMID:22541110   PMID:22715976   PMID:23551178  
PMID:24602016   PMID:24903384   PMID:25601519   PMID:26186194   PMID:27868302   PMID:28298427   PMID:28351953   PMID:28514442   PMID:29248494   PMID:32296183   PMID:32322062   PMID:32393512  
PMID:32513696   PMID:33845483   PMID:33961781   PMID:34271437  


Genomics

Comparative Map Data
S1PR5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381910,512,742 - 10,517,965 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1910,512,742 - 10,517,931 (-)EnsemblGRCh38hg38GRCh38
GRCh371910,623,418 - 10,628,641 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361910,484,623 - 10,489,112 (-)NCBINCBI36Build 36hg18NCBI36
Build 341910,484,622 - 10,489,112NCBI
Celera1910,518,131 - 10,523,388 (-)NCBICelera
Cytogenetic Map19p13.2NCBI
HuRef1910,201,961 - 10,207,399 (-)NCBIHuRef
CHM1_11910,624,176 - 10,629,433 (-)NCBICHM1_1
T2T-CHM13v2.01910,639,179 - 10,644,407 (-)NCBIT2T-CHM13v2.0
S1pr5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39921,154,213 - 21,159,739 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl921,154,208 - 21,159,739 (-)EnsemblGRCm39 Ensembl
GRCm38921,242,917 - 21,248,443 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl921,242,912 - 21,248,443 (-)EnsemblGRCm38mm10GRCm38
MGSCv37921,047,361 - 21,052,887 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36920,993,319 - 20,996,611 (-)NCBIMGSCv36mm8
Celera918,512,032 - 18,517,558 (-)NCBICelera
Cytogenetic Map9A3NCBI
cM Map97.75NCBI
S1pr5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8828,062,841 - 28,068,013 (-)NCBIGRCr8
mRatBN7.2819,786,676 - 19,791,862 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl819,786,663 - 19,791,795 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx823,806,109 - 23,811,040 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0822,103,954 - 22,108,885 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0820,016,404 - 20,021,375 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0822,268,635 - 22,273,708 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl822,268,657 - 22,270,647 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0822,323,891 - 22,328,932 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4820,278,404 - 20,283,375 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1820,278,403 - 20,283,375 (-)NCBI
Celera821,180,228 - 21,185,199 (-)NCBICelera
Cytogenetic Map8q13NCBI
S1pr5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554951,717,549 - 1,722,257 (-)NCBIChiLan1.0ChiLan1.0
S1PR5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22015,430,929 - 15,436,593 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11914,429,534 - 14,435,210 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01910,064,332 - 10,069,999 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11910,726,661 - 10,731,230 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1910,727,527 - 10,728,728 (-)Ensemblpanpan1.1panPan2
S1PR5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12050,641,585 - 50,646,938 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2050,643,619 - 50,644,815 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2050,513,495 - 50,518,968 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02051,164,592 - 51,170,064 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2051,165,296 - 51,168,809 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12050,371,184 - 50,376,633 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02050,799,276 - 50,804,758 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02051,040,334 - 51,045,813 (+)NCBIUU_Cfam_GSD_1.0
S1pr5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118209,551,873 - 209,557,153 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936659798,707 - 799,903 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936659798,259 - 801,563 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
S1PR5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl269,293,546 - 69,298,377 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1269,293,537 - 69,299,408 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2269,646,773 - 69,649,084 (-)NCBISscrofa10.2Sscrofa10.2susScr3
S1PR5
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.169,537,083 - 9,542,610 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl69,538,156 - 9,539,352 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607410,456,440 - 10,461,715 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
S1pr5
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248282,592,475 - 2,601,943 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248282,590,664 - 2,602,136 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in S1PR5
31 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3 copy number gain See cases [RCV000052908] Chr19:8831147..13331227 [GRCh38]
Chr19:8941823..13442041 [GRCh37]
Chr19:8802823..13303041 [NCBI36]
Chr19:19p13.2-13.13
likely pathogenic
GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3 copy number gain See cases [RCV000052909] Chr19:10315258..14048994 [GRCh38]
Chr19:10425934..14159806 [GRCh37]
Chr19:10286934..14020806 [NCBI36]
Chr19:19p13.2-13.12
pathogenic
GRCh38/hg38 19p13.2(chr19:9735443-11228001)x1 copy number loss See cases [RCV000135403] Chr19:9735443..11228001 [GRCh38]
Chr19:9846119..11338677 [GRCh37]
Chr19:9707119..11199677 [NCBI36]
Chr19:19p13.2
pathogenic
GRCh38/hg38 19p13.2(chr19:10156406-10889688)x3 copy number gain See cases [RCV000136738] Chr19:10156406..10889688 [GRCh38]
Chr19:10267082..11000364 [GRCh37]
Chr19:10128082..10861364 [NCBI36]
Chr19:19p13.2
pathogenic
GRCh38/hg38 19p13.2(chr19:10330655-10920552)x1 copy number loss See cases [RCV000141708] Chr19:10330655..10920552 [GRCh38]
Chr19:10441331..11031228 [GRCh37]
Chr19:10302331..10892228 [NCBI36]
Chr19:19p13.2
likely pathogenic
GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1 copy number loss See cases [RCV000141568] Chr19:10319474..13777860 [GRCh38]
Chr19:10430150..13888674 [GRCh37]
Chr19:10291150..13749674 [NCBI36]
Chr19:19p13.2-13.13
pathogenic
GRCh37/hg19 19p13.2(chr19:10584393-10938252)x3 copy number gain See cases [RCV000449205] Chr19:10584393..10938252 [GRCh37]
Chr19:19p13.2
uncertain significance
GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426) copy number gain See cases [RCV000446985] Chr19:9678768..14853426 [GRCh37]
Chr19:19p13.2-13.12
pathogenic
GRCh37/hg19 19p13.2(chr19:10286133-11040457)x1 copy number loss See cases [RCV000446752] Chr19:10286133..11040457 [GRCh37]
Chr19:19p13.2
pathogenic
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(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [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 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
NM_030760.5(S1PR5):c.429G>A (p.Ala143=) single nucleotide variant not provided [RCV000925195] Chr19:10514583 [GRCh38]
Chr19:10625259 [GRCh37]
Chr19:19p13.2
likely benign
NM_030760.5(S1PR5):c.1178C>G (p.Ser393Ter) single nucleotide variant not provided [RCV000970352] Chr19:10513834 [GRCh38]
Chr19:10624510 [GRCh37]
Chr19:19p13.2
likely benign
NM_030760.5(S1PR5):c.567C>T (p.Tyr189=) single nucleotide variant not provided [RCV000949050] Chr19:10514445 [GRCh38]
Chr19:10625121 [GRCh37]
Chr19:19p13.2
benign
NM_030760.5(S1PR5):c.923T>A (p.Leu308His) single nucleotide variant not provided [RCV000970353] Chr19:10514089 [GRCh38]
Chr19:10624765 [GRCh37]
Chr19:19p13.2
benign
GRCh37/hg19 19p13.2(chr19:10441330-10977962)x1 copy number loss not provided [RCV000849141] Chr19:10441330..10977962 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_030760.5(S1PR5):c.825G>A (p.Val275=) single nucleotide variant not provided [RCV000962689] Chr19:10514187 [GRCh38]
Chr19:10624863 [GRCh37]
Chr19:19p13.2
benign
NM_030760.5(S1PR5):c.423G>A (p.Gly141=) single nucleotide variant not provided [RCV000971434] Chr19:10514589 [GRCh38]
Chr19:10625265 [GRCh37]
Chr19:19p13.2
benign|likely benign
GRCh37/hg19 19p13.2(chr19:10584393-10938252) copy number gain not specified [RCV002052674] Chr19:10584393..10938252 [GRCh37]
Chr19:19p13.2
uncertain significance
GRCh37/hg19 19p13.2(chr19:9941033-11739567)x3 copy number gain not provided [RCV001834267] Chr19:9941033..11739567 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_030760.5(S1PR5):c.902T>C (p.Leu301Pro) single nucleotide variant not specified [RCV004156251] Chr19:10514110 [GRCh38]
Chr19:10624786 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_030760.5(S1PR5):c.449G>T (p.Arg150Leu) single nucleotide variant not specified [RCV004107613] Chr19:10514563 [GRCh38]
Chr19:10625239 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_030760.5(S1PR5):c.67G>A (p.Gly23Ser) single nucleotide variant not specified [RCV004230442] Chr19:10514945 [GRCh38]
Chr19:10625621 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_030760.5(S1PR5):c.995C>T (p.Pro332Leu) single nucleotide variant not specified [RCV004096029] Chr19:10514017 [GRCh38]
Chr19:10624693 [GRCh37]
Chr19:19p13.2
likely benign
NM_030760.5(S1PR5):c.703A>G (p.Thr235Ala) single nucleotide variant not specified [RCV004117678] Chr19:10514309 [GRCh38]
Chr19:10624985 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_030760.5(S1PR5):c.631C>G (p.Leu211Val) single nucleotide variant not specified [RCV004163022] Chr19:10514381 [GRCh38]
Chr19:10625057 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_030760.5(S1PR5):c.427G>A (p.Ala143Thr) single nucleotide variant not specified [RCV004238483] Chr19:10514585 [GRCh38]
Chr19:10625261 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_030760.5(S1PR5):c.278T>C (p.Ile93Thr) single nucleotide variant not specified [RCV004108505] Chr19:10514734 [GRCh38]
Chr19:10625410 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_030760.5(S1PR5):c.644T>G (p.Ile215Ser) single nucleotide variant not specified [RCV004180611] Chr19:10514368 [GRCh38]
Chr19:10625044 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_030760.5(S1PR5):c.139T>G (p.Cys47Gly) single nucleotide variant not specified [RCV004154605] Chr19:10514873 [GRCh38]
Chr19:10625549 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_030760.5(S1PR5):c.820G>T (p.Asp274Tyr) single nucleotide variant not specified [RCV004096765] Chr19:10514192 [GRCh38]
Chr19:10624868 [GRCh37]
Chr19:19p13.2
uncertain significance
GRCh37/hg19 19p13.2(chr19:10624491-10969019)x3 copy number gain not provided [RCV003223007] Chr19:10624491..10969019 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_030760.5(S1PR5):c.686G>A (p.Arg229Gln) single nucleotide variant not specified [RCV004278377] Chr19:10514326 [GRCh38]
Chr19:10625002 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_030760.5(S1PR5):c.1073G>A (p.Gly358Glu) single nucleotide variant not specified [RCV004355614] Chr19:10513939 [GRCh38]
Chr19:10624615 [GRCh37]
Chr19:19p13.2
uncertain significance
GRCh37/hg19 19p13.2(chr19:10477778-11154144)x3 copy number gain not provided [RCV003485192] Chr19:10477778..11154144 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_030760.5(S1PR5):c.984C>T (p.Cys328=) single nucleotide variant not provided [RCV003421826] Chr19:10514028 [GRCh38]
Chr19:10624704 [GRCh37]
Chr19:19p13.2
likely benign
GRCh37/hg19 19p13.2(chr19:10441330-13077352)x1 copy number loss not specified [RCV003986120] Chr19:10441330..13077352 [GRCh37]
Chr19:19p13.2
pathogenic
NM_030760.5(S1PR5):c.536T>C (p.Leu179Pro) single nucleotide variant not specified [RCV004447286] Chr19:10514476 [GRCh38]
Chr19:10625152 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_030760.5(S1PR5):c.598G>C (p.Ala200Pro) single nucleotide variant not specified [RCV004447287] Chr19:10514414 [GRCh38]
Chr19:10625090 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_030760.5(S1PR5):c.683C>T (p.Ala228Val) single nucleotide variant not specified [RCV004447288] Chr19:10514329 [GRCh38]
Chr19:10625005 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_030760.5(S1PR5):c.68G>T (p.Gly23Val) single nucleotide variant not specified [RCV004447289] Chr19:10514944 [GRCh38]
Chr19:10625620 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_030760.5(S1PR5):c.212T>C (p.Met71Thr) single nucleotide variant not specified [RCV004447283] Chr19:10514800 [GRCh38]
Chr19:10625476 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_030760.5(S1PR5):c.29C>G (p.Pro10Arg) single nucleotide variant not specified [RCV004447284] Chr19:10514983 [GRCh38]
Chr19:10625659 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_030760.5(S1PR5):c.830G>T (p.Cys277Phe) single nucleotide variant not specified [RCV004447290] Chr19:10514182 [GRCh38]
Chr19:10624858 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_030760.5(S1PR5):c.1180G>A (p.Glu394Lys) single nucleotide variant not specified [RCV004447281] Chr19:10513832 [GRCh38]
Chr19:10624508 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_030760.5(S1PR5):c.385A>G (p.Ile129Val) single nucleotide variant not specified [RCV004447285] Chr19:10514627 [GRCh38]
Chr19:10625303 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_030760.5(S1PR5):c.124G>T (p.Val42Leu) single nucleotide variant not specified [RCV004447282] Chr19:10514888 [GRCh38]
Chr19:10625564 [GRCh37]
Chr19:19p13.2
uncertain significance
NC_000019.9:g.(?_10244343)_(11231218_?)del deletion Familial hypercholesterolemia [RCV004581010] Chr19:10244343..11231218 [GRCh37]
Chr19:19p13.2
pathogenic
NM_030760.5(S1PR5):c.508G>T (p.Ala170Ser) single nucleotide variant not specified [RCV004661317] Chr19:10514504 [GRCh38]
Chr19:10625180 [GRCh37]
Chr19:19p13.2
uncertain significance
NC_000019.9:g.(?_10461510)_(10941723_?)dup duplication Immunodeficiency 35 [RCV004581092] Chr19:10461510..10941723 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_030760.5(S1PR5):c.113C>A (p.Ala38Asp) single nucleotide variant not specified [RCV004674427] Chr19:10514899 [GRCh38]
Chr19:10625575 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_030760.5(S1PR5):c.1107G>C (p.Gln369His) single nucleotide variant not specified [RCV004661316] Chr19:10513905 [GRCh38]
Chr19:10624581 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_030760.5(S1PR5):c.218T>C (p.Leu73Pro) single nucleotide variant not specified [RCV004661314] Chr19:10514794 [GRCh38]
Chr19:10625470 [GRCh37]
Chr19:19p13.2
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1000
Count of miRNA genes:553
Interacting mature miRNAs:609
Transcripts:ENST00000333430, ENST00000439028, ENST00000590601
Prediction methods:Miranda, Rnahybrid, Targetscan
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
1298499UAE1_HUrinary albumin excretion QTL 1 (human)2.730.0009Urinary albumin excretionurine albumin:creatinine ratio (ACR)19116075902Human
1643451SLIPL6_HSerum lipid level QTL 6 (human)2.190.0008Lipid level19116075902Human
407204167GWAS853143_Hmitochondrial DNA measurement QTL GWAS853143 (human)0.0000002mitochondrial DNA measurement191051512010515121Human
407256659GWAS905635_HICAM-1 measurement QTL GWAS905635 (human)5e-20ICAM-1 measurement191051792310517924Human
1581534BP76_HBlood pressure QTL 76 (human)20.001Blood pressurepulse pressure19116075902Human
1581535BP65_HBlood pressure QTL 65 (human)3.10.001Blood pressurepulse pressure19116075902Human
407194877GWAS843853_Hlymphocyte count QTL GWAS843853 (human)3e-08lymphocyte countblood lymphocyte count (CMO:0000031)191051736510517366Human
2314591INSUL4_HInsulin level QTL 4 (human)3.80.000038Insulin levelfasting19116075902Human
1298476BP3_HBlood pressure QTL 3 (human)2.4Blood pressuresystolic19116075902Human

Markers in Region
SHGC-53359  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371910,623,873 - 10,624,013UniSTSGRCh37
Build 361910,484,873 - 10,485,013RGDNCBI36
Celera1910,518,592 - 10,518,732RGD
Cytogenetic Map19p13.2UniSTS
HuRef1910,202,423 - 10,202,563UniSTS
TNG Radiation Hybrid Map193414.0UniSTS
RH78976  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371910,623,778 - 10,623,964UniSTSGRCh37
Build 361910,484,778 - 10,484,964RGDNCBI36
Celera1910,518,497 - 10,518,683RGD
Cytogenetic Map19p13.2UniSTS
GeneMap99-GB4 RH Map1967.7UniSTS
NCBI RH Map1987.9UniSTS
Edg8  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371910,625,110 - 10,625,661UniSTSGRCh37
Celera1910,519,829 - 10,520,380UniSTS
HuRef1910,203,660 - 10,204,211UniSTS


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 2274 2713 2207 4949 1720 2328 6 622 1543 464 2264 6752 6015 48 3682 1 835 1730 1594 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001166215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_030760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB083602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC011461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF088014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF317676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF331840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF331841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF331842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094880 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY262689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC034703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC067781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ782630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA747912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA866378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB013424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000333430   ⟹   ENSP00000328472
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,512,742 - 10,517,447 (-)Ensembl
Ensembl Acc Id: ENST00000439028   ⟹   ENSP00000416915
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,512,947 - 10,517,931 (-)Ensembl
Ensembl Acc Id: ENST00000590601   ⟹   ENSP00000464884
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,514,852 - 10,517,427 (-)Ensembl
Ensembl Acc Id: ENST00000617721   ⟹   ENSP00000481239
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1910,512,892 - 10,515,021 (-)Ensembl
RefSeq Acc Id: NM_001166215   ⟹   NP_001159687
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381910,512,742 - 10,517,965 (-)NCBI
GRCh371910,623,418 - 10,628,668 (-)ENTREZGENE
HuRef1910,201,961 - 10,207,399 (-)ENTREZGENE
CHM1_11910,624,176 - 10,629,433 (-)NCBI
T2T-CHM13v2.01910,639,179 - 10,644,407 (-)NCBI
Sequence:
RefSeq Acc Id: NM_030760   ⟹   NP_110387
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381910,512,742 - 10,517,447 (-)NCBI
GRCh371910,623,418 - 10,628,668 (-)ENTREZGENE
Build 361910,484,623 - 10,489,112 (-)NCBI Archive
HuRef1910,201,961 - 10,207,399 (-)ENTREZGENE
CHM1_11910,624,176 - 10,628,891 (-)NCBI
T2T-CHM13v2.01910,639,179 - 10,643,889 (-)NCBI
Sequence:
RefSeq Acc Id: NP_110387   ⟸   NM_030760
- UniProtKB: Q6NW11 (UniProtKB/Swiss-Prot),   Q9H228 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001159687   ⟸   NM_001166215
- UniProtKB: Q6NW11 (UniProtKB/Swiss-Prot),   Q9H228 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000416915   ⟸   ENST00000439028
Ensembl Acc Id: ENSP00000328472   ⟸   ENST00000333430
Ensembl Acc Id: ENSP00000481239   ⟸   ENST00000617721
Ensembl Acc Id: ENSP00000464884   ⟸   ENST00000590601

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9H228-F1-model_v2 AlphaFold Q9H228 1-398 view protein structure

Promoters
RGD ID:7238513
Promoter ID:EPDNEW_H25002
Type:initiation region
Name:S1PR5_1
Description:sphingosine-1-phosphate receptor 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25003  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381910,517,447 - 10,517,507EPDNEW
RGD ID:7238515
Promoter ID:EPDNEW_H25003
Type:initiation region
Name:S1PR5_2
Description:sphingosine-1-phosphate receptor 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25002  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381910,517,950 - 10,518,010EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14299 AgrOrtholog
COSMIC S1PR5 COSMIC
Ensembl Genes ENSG00000180739 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000333430 ENTREZGENE
  ENST00000333430.6 UniProtKB/Swiss-Prot
  ENST00000439028 ENTREZGENE
  ENST00000439028.3 UniProtKB/Swiss-Prot
  ENST00000590601.1 UniProtKB/TrEMBL
Gene3D-CATH Rhodopsin 7-helix transmembrane proteins UniProtKB/Swiss-Prot
GTEx ENSG00000180739 GTEx
HGNC ID HGNC:14299 ENTREZGENE
Human Proteome Map S1PR5 Human Proteome Map
InterPro EDG8_S1P_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPCR_Rhodpsn UniProtKB/Swiss-Prot
  GPCR_Rhodpsn_7TM UniProtKB/Swiss-Prot
  S1P_rcpt UniProtKB/Swiss-Prot
KEGG Report hsa:53637 UniProtKB/Swiss-Prot
NCBI Gene 53637 ENTREZGENE
OMIM 605146 OMIM
PANTHER G-PROTEIN COUPLED RECEPTOR UniProtKB/Swiss-Prot
  SPHINGOSINE 1-PHOSPHATE RECEPTOR 5 UniProtKB/Swiss-Prot
Pfam 7tm_1 UniProtKB/Swiss-Prot
PharmGKB PA162402378 PharmGKB
PRINTS EDG8RECEPTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPCRRHODOPSN UniProtKB/Swiss-Prot
  S1PRECEPTOR UniProtKB/Swiss-Prot
PROSITE G_PROTEIN_RECEP_F1_1 UniProtKB/Swiss-Prot
  G_PROTEIN_RECEP_F1_2 UniProtKB/Swiss-Prot
Superfamily-SCOP Family A G protein-coupled receptor-like UniProtKB/Swiss-Prot
UniProt K7EIT5_HUMAN UniProtKB/TrEMBL
  L8ECK7_HUMAN UniProtKB/TrEMBL
  Q6NW11 ENTREZGENE
  Q9H228 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q6NW11 UniProtKB/Swiss-Prot