PTGDS (prostaglandin D2 synthase) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: PTGDS (prostaglandin D2 synthase) Homo sapiens
Analyze
Symbol: PTGDS
Name: prostaglandin D2 synthase
RGD ID: 737496
HGNC Page HGNC
Description: Enables fatty acid binding activity and prostaglandin-D synthase activity. Involved in prostaglandin biosynthetic process. Located in extracellular space and rough endoplasmic reticulum. Implicated in carotid artery disease. Biomarker of hypertension and nephrosclerosis.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: beta-trace protein; cerebrin-28; glutathione-independent PGD synthase; glutathione-independent PGD synthetase; L-PGDS; lipocalin-type prostaglandin D synthase; lipocalin-type prostaglandin-D synthase; LPGDS; PDS; PGD2; PGD2 synthase; PGDS; PGDS2; prostaglandin D synthase; prostaglandin D2 synthase 21kDa (brain); prostaglandin-D2 synthase; prostaglandin-H2 D-isomerase; testis tissue sperm-binding protein Li 63n
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl9136,975,092 - 136,981,742 (+)EnsemblGRCh38hg38GRCh38
GRCh389136,977,504 - 136,981,742 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh379139,871,956 - 139,876,194 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 369138,991,777 - 138,996,015 (+)NCBINCBI36hg18NCBI36
Build 349137,147,792 - 137,152,030NCBI
Celera9110,384,087 - 110,388,329 (+)NCBI
Cytogenetic Map9q34.3NCBI
HuRef9109,331,058 - 109,335,300 (+)NCBIHuRef
CHM1_19140,020,562 - 140,024,952 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
1,1-dichloroethene  (ISO)
17alpha-ethynylestradiol  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,5-hexanedione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
8-anilinonaphthalene-1-sulfonic acid  (EXP)
acrylamide  (ISO)
acteoside  (EXP)
alachlor  (ISO)
aldehydo-D-glucose  (EXP)
all-trans-retinoic acid  (EXP)
all-trans-retinol  (EXP)
amentoflavone  (EXP)
ammonium chloride  (ISO)
anthra[1,9-cd]pyrazol-6(2H)-one  (ISO)
antipyrine  (ISO)
benzo[a]pyrene  (ISO)
beta-naphthoflavone  (ISO)
bis(2-chloroethyl) sulfide  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (ISO)
bisphenol F  (ISO)
bromobenzene  (ISO)
butanal  (EXP)
cadmium dichloride  (ISO)
calcitriol  (EXP)
carbendazim  (ISO)
carbon nanotube  (ISO)
celecoxib  (EXP)
chlordecone  (ISO)
clozapine  (ISO)
corticosterone  (ISO)
Cuprizon  (ISO)
cyclosporin A  (EXP)
D-glucose  (EXP)
dexamethasone  (ISO)
dextran sulfate  (ISO)
dimethyl sulfoxide  (ISO)
dioxygen  (ISO)
doxorubicin  (EXP,ISO)
elemental selenium  (EXP)
enniatin  (EXP)
ethanol  (ISO)
fluoxetine  (ISO)
genistein  (ISO)
glucose  (EXP)
glycidol  (ISO)
hinokiflavone  (EXP)
hydrogen peroxide  (EXP)
isoprenaline  (ISO)
isotretinoin  (EXP)
lead(0)  (EXP)
lead(2+)  (EXP)
mifepristone  (EXP)
N-nitrosodiethylamine  (ISO)
nickel atom  (EXP)
nicotinic acid  (EXP)
nitroglycerin  (ISO)
ochratoxin A  (EXP)
paraquat  (EXP)
pentanal  (EXP)
phencyclidine  (ISO)
phenobarbital  (ISO)
potassium chromate  (EXP)
progesterone  (ISO)
propanal  (EXP)
prostaglandin H2  (ISO)
raloxifene  (ISO)
resveratrol  (ISO)
ricinoleic acid  (EXP)
SB 203580  (ISO)
selenium atom  (EXP)
sodium chloride  (ISO)
sodium fluoride  (ISO)
sulforaphane  (ISO)
sunitinib  (EXP)
tamoxifen  (ISO)
tetrachloroethene  (ISO)
tetrachloromethane  (ISO)
tetracycline  (ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
triclosan  (EXP)
trimellitic anhydride  (ISO)
Triptolide  (ISO)
triptonide  (ISO)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
vinclozolin  (ISO)
vitamin E  (EXP)
WIN 55212-2  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Seizure  (IAGP)
References

Additional References at PubMed
PMID:1385416   PMID:1726844   PMID:7689714   PMID:7692978   PMID:8163486   PMID:8253813   PMID:8300593   PMID:8336134   PMID:8336140   PMID:8599604   PMID:8761996   PMID:8889548  
PMID:9065498   PMID:9162076   PMID:9405674   PMID:9475419   PMID:9844724   PMID:10462696   PMID:10781097   PMID:11068878   PMID:11287775   PMID:11669522   PMID:11751991   PMID:12358155  
PMID:12477932   PMID:12627223   PMID:12900000   PMID:15081423   PMID:15164053   PMID:15453544   PMID:15489334   PMID:15718494   PMID:15862967   PMID:16199891   PMID:16303743   PMID:16335952  
PMID:16713569   PMID:17093043   PMID:17230501   PMID:17307169   PMID:17404210   PMID:17499437   PMID:17532558   PMID:17574780   PMID:17588556   PMID:17852800   PMID:18077799   PMID:18349703  
PMID:18436228   PMID:18448869   PMID:18552976   PMID:18802357   PMID:18817855   PMID:18830622   PMID:19015601   PMID:19094210   PMID:19124506   PMID:19131342   PMID:19132521   PMID:19276290  
PMID:19578796   PMID:19598000   PMID:19878301   PMID:19913121   PMID:19949816   PMID:19958607   PMID:20008150   PMID:20029029   PMID:20144489   PMID:20347284   PMID:20403807   PMID:20596612  
PMID:20628086   PMID:20667974   PMID:20706999   PMID:21078624   PMID:21104585   PMID:21112970   PMID:21163901   PMID:21192373   PMID:21271676   PMID:21325722   PMID:21501068   PMID:21603615  
PMID:21745310   PMID:21873635   PMID:21988832   PMID:22248185   PMID:22299829   PMID:22342541   PMID:22370065   PMID:22498882   PMID:22664386   PMID:22677050   PMID:22745274   PMID:22818840  
PMID:22960220   PMID:22989106   PMID:23076868   PMID:23291589   PMID:23328707   PMID:23335043   PMID:23376485   PMID:23518194   PMID:23526831   PMID:23533145   PMID:23698027   PMID:24438498  
PMID:24493589   PMID:24521203   PMID:25005874   PMID:25416956   PMID:25522430   PMID:25640309   PMID:25964109   PMID:25966493   PMID:26211517   PMID:26354767   PMID:26431580   PMID:26469385  
PMID:26800100   PMID:26924065   PMID:27271931   PMID:27614217   PMID:28298427   PMID:28514442   PMID:29124765   PMID:29421771   PMID:29621631   PMID:29668081   PMID:30393234   PMID:30720106  
PMID:30730082   PMID:30734298   PMID:30996283   PMID:31467325   PMID:31575663   PMID:31755786   PMID:32296183   PMID:32334026   PMID:32814053   PMID:32851567   PMID:33175978  


Genomics

Comparative Map Data
PTGDS
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl9136,975,092 - 136,981,742 (+)EnsemblGRCh38hg38GRCh38
GRCh389136,977,504 - 136,981,742 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh379139,871,956 - 139,876,194 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 369138,991,777 - 138,996,015 (+)NCBINCBI36hg18NCBI36
Build 349137,147,792 - 137,152,030NCBI
Celera9110,384,087 - 110,388,329 (+)NCBI
Cytogenetic Map9q34.3NCBI
HuRef9109,331,058 - 109,335,300 (+)NCBIHuRef
CHM1_19140,020,562 - 140,024,952 (+)NCBICHM1_1
Ptgds
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39225,356,721 - 25,360,141 (-)NCBIGRCm39mm39
GRCm39 Ensembl225,356,721 - 25,360,058 (-)Ensembl
GRCm38225,466,709 - 25,470,110 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl225,466,709 - 25,470,046 (-)EnsemblGRCm38mm10GRCm38
MGSCv37225,322,232 - 25,325,269 (-)NCBIGRCm37mm9NCBIm37
MGSCv36225,288,721 - 25,291,740 (-)NCBImm8
Celera225,194,223 - 25,197,258 (-)NCBICelera
Cytogenetic Map2A3NCBI
cM Map217.28NCBI
Ptgds
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.238,281,899 - 8,284,833 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl38,281,899 - 8,284,833 (-)Ensembl
Rnor_6.032,686,125 - 2,689,059 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl32,686,123 - 2,689,084 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.032,667,538 - 2,670,472 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.433,632,683 - 3,635,617 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.133,632,682 - 3,635,617 (-)NCBI
Celera33,107,001 - 3,109,935 (-)NCBICelera
Cytogenetic Map3p13NCBI
Ptgds
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049555135,009,530 - 5,012,781 (+)NCBIChiLan1.0ChiLan1.0
PTGDS
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.19137,006,601 - 137,010,582 (+)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v09108,037,994 - 108,042,136 (+)NCBIMhudiblu_PPA_v0panPan3
PTGDS
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1948,647,334 - 48,650,608 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl948,646,255 - 48,669,814 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha947,860,991 - 47,864,203 (-)NCBI
ROS_Cfam_1.0949,525,429 - 49,528,641 (-)NCBI
UMICH_Zoey_3.1948,301,642 - 48,304,854 (-)NCBI
UNSW_CanFamBas_1.0948,600,355 - 48,603,569 (-)NCBI
UU_Cfam_GSD_1.0948,647,517 - 48,650,729 (-)NCBI
Ptgds
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947202,410,468 - 202,413,812 (+)NCBI
SpeTri2.0NW_004936669961,246 - 964,584 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PTGDS
(Sus scrofa - pig)
No map positions available.
PTGDS
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1121,210,567 - 1,214,631 (-)NCBIChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660584,086,821 - 4,090,925 (+)NCBIVero_WHO_p1.0
Ptgds
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624760920,292 - 923,174 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
D9S905  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379139,875,225 - 139,875,514UniSTSGRCh37
Build 369138,995,046 - 138,995,335RGDNCBI36
Celera9110,387,356 - 110,387,649RGD
Cytogenetic Map9q34.2-q34.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map10p11.23-q21.1UniSTS
HuRef9109,334,327 - 109,334,620UniSTS
Marshfield Genetic Map9163.84UniSTS
Marshfield Genetic Map9163.84RGD
STS-M98539  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379139,876,077 - 139,876,176UniSTSGRCh37
Build 369138,995,898 - 138,995,997RGDNCBI36
Celera9110,388,212 - 110,388,311RGD
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS
HuRef9109,335,183 - 109,335,282UniSTS
GeneMap99-GB4 RH Map9419.53UniSTS
RH93947  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q34.2-q34.3UniSTS
GeneMap99-GB4 RH Map9419.53UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3566
Count of miRNA genes:826
Interacting mature miRNAs:1008
Transcripts:ENST00000224167, ENST00000371623, ENST00000371625, ENST00000444903, ENST00000446677, ENST00000457950, ENST00000460340, ENST00000462514, ENST00000467871, ENST00000471521, ENST00000492068
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 3 686 18 3 11 3 575 281 1871 2 492 109 22 575
Medium 2203 1959 1404 372 984 265 3296 1688 1709 218 779 1204 107 1147 2040 2
Low 149 340 256 212 374 159 406 191 94 138 116 136 60 1 35 173 2 1
Below cutoff 45 3 30 23 55 24 37 20 38 37 38 85 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_000954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA621632 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH005144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI659247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL807752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY026356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC041463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG037037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM686612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT019921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT019922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ297141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM005686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M61900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000371623
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9136,977,516 - 136,979,826 (+)Ensembl
RefSeq Acc Id: ENST00000371625   ⟹   ENSP00000360687
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9136,977,504 - 136,981,742 (+)Ensembl
RefSeq Acc Id: ENST00000413913
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9136,975,094 - 136,976,981 (+)Ensembl
RefSeq Acc Id: ENST00000444903   ⟹   ENSP00000392692
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9136,980,255 - 136,981,742 (+)Ensembl
RefSeq Acc Id: ENST00000446677   ⟹   ENSP00000397468
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9136,979,080 - 136,981,737 (+)Ensembl
RefSeq Acc Id: ENST00000457950   ⟹   ENSP00000392633
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9136,977,505 - 136,980,219 (+)Ensembl
RefSeq Acc Id: ENST00000460340
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9136,978,843 - 136,979,548 (+)Ensembl
RefSeq Acc Id: ENST00000462514
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9136,979,916 - 136,981,056 (+)Ensembl
RefSeq Acc Id: ENST00000492068
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9136,978,812 - 136,981,692 (+)Ensembl
RefSeq Acc Id: ENST00000640716   ⟹   ENSP00000491730
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9136,975,092 - 136,979,021 (+)Ensembl
RefSeq Acc Id: NM_000954   ⟹   NP_000945
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389136,977,504 - 136,981,742 (+)NCBI
GRCh379139,871,898 - 139,876,194 (+)NCBI
Build 369138,991,777 - 138,996,015 (+)NCBI Archive
HuRef9109,331,058 - 109,335,300 (+)ENTREZGENE
CHM1_19140,020,562 - 140,024,952 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000945   ⟸   NM_000954
- Peptide Label: precursor
- UniProtKB: P41222 (UniProtKB/Swiss-Prot),   A0A024R8G3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000360687   ⟸   ENST00000371625
RefSeq Acc Id: ENSP00000392633   ⟸   ENST00000457950
RefSeq Acc Id: ENSP00000491730   ⟸   ENST00000640716
RefSeq Acc Id: ENSP00000392692   ⟸   ENST00000444903
RefSeq Acc Id: ENSP00000397468   ⟸   ENST00000446677
Protein Domains
Lipocln_cytosolic_FA-bd_dom

Promoters
RGD ID:7216737
Promoter ID:EPDNEW_H14113
Type:initiation region
Name:PTGDS_1
Description:prostaglandin D2 synthase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389136,977,504 - 136,977,564EPDNEW
RGD ID:6807999
Promoter ID:HG_KWN:65667
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:UC004CKD.1
Position:
Human AssemblyChrPosition (strand)Source
Build 369138,989,196 - 138,989,696 (+)MPROMDB
RGD ID:6808000
Promoter ID:HG_KWN:65670
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562
Transcripts:OTTHUMT00000055192,   OTTHUMT00000055193,   OTTHUMT00000055197
Position:
Human AssemblyChrPosition (strand)Source
Build 369138,992,546 - 138,993,252 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9q34.3(chr9:136323974-138014606)x1 copy number loss See cases [RCV000050344] Chr9:136323974..138014606 [GRCh38]
Chr9:139218428..140909058 [GRCh37]
Chr9:138338249..140028879 [NCBI36]
Chr9:9q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3 copy number gain See cases [RCV000051040] Chr9:122792658..138124532 [GRCh38]
Chr9:125554937..141018984 [GRCh37]
Chr9:124594758..140138805 [NCBI36]
Chr9:9q33.2-34.3
pathogenic
GRCh38/hg38 9q34.3(chr9:136323974-138124532)x1 copy number loss See cases [RCV000051116] Chr9:136323974..138124532 [GRCh38]
Chr9:139218428..141018984 [GRCh37]
Chr9:138338249..140138805 [NCBI36]
Chr9:9q34.3
pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3 copy number gain See cases [RCV000051009] Chr9:121112395..138075224 [GRCh38]
Chr9:123874673..140969676 [GRCh37]
Chr9:122914494..140089497 [NCBI36]
Chr9:9q33.2-34.3
pathogenic
GRCh38/hg38 9q34.2-34.3(chr9:134428674-138154922)x1 copy number loss See cases [RCV000052936] Chr9:134428674..138154922 [GRCh38]
Chr9:137320520..141049374 [GRCh37]
Chr9:136460341..140169195 [NCBI36]
Chr9:9q34.2-34.3
pathogenic
GRCh38/hg38 9q34.3(chr9:135452016-137613738)x1 copy number loss See cases [RCV000052937] Chr9:135452016..137613738 [GRCh38]
Chr9:138343862..140508190 [GRCh37]
Chr9:137483683..139628011 [NCBI36]
Chr9:9q34.3
pathogenic
GRCh38/hg38 9q34.3(chr9:136015976-138124532)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052938]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052938]|See cases [RCV000052938] Chr9:136015976..138124532 [GRCh38]
Chr9:138907822..141018984 [GRCh37]
Chr9:138047643..140138805 [NCBI36]
Chr9:9q34.3
pathogenic
GRCh38/hg38 9q34.3(chr9:136926575-138114463)x1 copy number loss See cases [RCV000052940] Chr9:136926575..138114463 [GRCh38]
Chr9:139821027..141008915 [GRCh37]
Chr9:138940848..140128736 [NCBI36]
Chr9:9q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q34.2-34.3(chr9:134174698-138138735)x3 copy number gain See cases [RCV000053814] Chr9:134174698..138138735 [GRCh38]
Chr9:137091194..141033187 [GRCh37]
Chr9:136029641..140153008 [NCBI36]
Chr9:9q34.2-34.3
pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121586837-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|See cases [RCV000053776] Chr9:121586837..138179445 [GRCh38]
Chr9:124349116..141073897 [GRCh37]
Chr9:123388937..140193718 [NCBI36]
Chr9:9q33.2-34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
Single allele deletion Epilepsy [RCV001293379] Chr9:139764148..141066491 [GRCh37]
Chr9:9q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3 copy number gain See cases [RCV000133778] Chr9:130513207..138124532 [GRCh38]
Chr9:133388594..141018984 [GRCh37]
Chr9:132378415..140138805 [NCBI36]
Chr9:9q34.11-34.3
pathogenic
GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3 copy number gain See cases [RCV000134916] Chr9:129068560..138179445 [GRCh38]
Chr9:131830839..141073897 [GRCh37]
Chr9:130870660..140193718 [NCBI36]
Chr9:9q34.11-34.3
pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3 copy number gain See cases [RCV000134920] Chr9:121073102..138179445 [GRCh38]
Chr9:123835380..141073897 [GRCh37]
Chr9:122875201..140193718 [NCBI36]
Chr9:9q33.2-34.3
pathogenic
GRCh38/hg38 9q34.13-34.3(chr9:132986903-138114463)x3 copy number gain See cases [RCV000136790] Chr9:132986903..138114463 [GRCh38]
Chr9:135862290..141008915 [GRCh37]
Chr9:134852111..140128736 [NCBI36]
Chr9:9q34.13-34.3
pathogenic
GRCh38/hg38 9q34.2-34.3(chr9:133504071-138159073)x3 copy number gain See cases [RCV000137825] Chr9:133504071..138159073 [GRCh38]
Chr9:136324358..141053525 [GRCh37]
Chr9:135314179..140173346 [NCBI36]
Chr9:9q34.2-34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic|conflicting data from submitters
GRCh38/hg38 9q34.2-34.3(chr9:133996227-138124524)x3 copy number gain See cases [RCV000139807] Chr9:133996227..138124524 [GRCh38]
Chr9:136861349..141018976 [GRCh37]
Chr9:135851170..140138797 [NCBI36]
Chr9:9q34.2-34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q34.2-34.3(chr9:133918071-138159073)x3 copy number gain See cases [RCV000142955] Chr9:133918071..138159073 [GRCh38]
Chr9:136783193..141053525 [GRCh37]
Chr9:135773014..140173346 [NCBI36]
Chr9:9q34.2-34.3
pathogenic
GRCh38/hg38 9q34.3(chr9:136877772-138124524)x1 copy number loss See cases [RCV000142978] Chr9:136877772..138124524 [GRCh38]
Chr9:139772224..141018976 [GRCh37]
Chr9:138892045..140138797 [NCBI36]
Chr9:9q34.3
pathogenic
GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3 copy number gain See cases [RCV000142636] Chr9:132386553..138059695 [GRCh38]
Chr9:135261940..140954147 [GRCh37]
Chr9:134251761..140073968 [NCBI36]
Chr9:9q34.13-34.3
pathogenic
GRCh38/hg38 9q34.3(chr9:135704780-138125937)x4 copy number gain See cases [RCV000143394] Chr9:135704780..138125937 [GRCh38]
Chr9:138596626..141020389 [GRCh37]
Chr9:137736447..140140210 [NCBI36]
Chr9:9q34.3
likely pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q34.3(chr9:136323974-138014606)x1 copy number loss See cases [RCV000148284] Chr9:136323974..138014606 [GRCh38]
Chr9:139218428..140909058 [GRCh37]
Chr9:138338249..140028879 [NCBI36]
Chr9:9q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q34.3(chr9:138222049-141018925)x1 copy number loss See cases [RCV000446074] Chr9:138222049..141018925 [GRCh37]
Chr9:9q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain See cases [RCV000447207] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3 copy number gain See cases [RCV000447080] Chr9:128652785..141044751 [GRCh37]
Chr9:9q33.3-34.3
pathogenic
GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3 copy number gain See cases [RCV000448784] Chr9:124642754..141146461 [GRCh37]
Chr9:9q33.2-34.3
pathogenic
GRCh37/hg19 9q34.3(chr9:139282807-141020389)x1 copy number loss See cases [RCV000448743] Chr9:139282807..141020389 [GRCh37]
Chr9:9q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q34.3(chr9:138209358-141020389)x1 copy number loss See cases [RCV000510584] Chr9:138209358..141020389 [GRCh37]
Chr9:9q34.3
pathogenic
GRCh37/hg19 9q34.3(chr9:138275621-141020389)x3 copy number gain See cases [RCV000511188] Chr9:138275621..141020389 [GRCh37]
Chr9:9q34.3
likely pathogenic
GRCh37/hg19 9q34.13-34.3(chr9:135377559-141213431)x1 copy number loss mTOR Inhibitor response [RCV000626442] Chr9:135377559..141213431 [GRCh37]
Chr9:9q34.13-34.3
drug response
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3
likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q34.13-34.3(chr9:135105971-141020389)x3 copy number gain not provided [RCV000683160] Chr9:135105971..141020389 [GRCh37]
Chr9:9q34.13-34.3
pathogenic
GRCh37/hg19 9q34.3(chr9:139754427-140088630)x3 copy number gain not provided [RCV000753226] Chr9:139754427..140088630 [GRCh37]
Chr9:9q34.3
benign
GRCh37/hg19 9q34.3(chr9:139754431-140088630)x3 copy number gain not provided [RCV000753227] Chr9:139754431..140088630 [GRCh37]
Chr9:9q34.3
benign
GRCh37/hg19 9q34.3(chr9:139835558-139983339)x3 copy number gain not provided [RCV000753228] Chr9:139835558..139983339 [GRCh37]
Chr9:9q34.3
benign
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q34.3(chr9:137816459-141114095)x1 copy number loss not provided [RCV000748787] Chr9:137816459..141114095 [GRCh37]
Chr9:9q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_000954.6(PTGDS):c.448+4C>T single nucleotide variant not provided [RCV000967147] Chr9:136980066 [GRCh38]
Chr9:139874518 [GRCh37]
Chr9:9q34.3
benign
NC_000009.11:g.(?_138645763)_(140729425_?)del deletion Early infantile epileptic encephalopathy 14 [RCV001362982]|Kleefstra syndrome 1 [RCV001031921]|Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV001352031] Chr9:138645763..140729425 [GRCh37]
Chr9:9q34.3
pathogenic|uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_000954.6(PTGDS):c.115-9T>C single nucleotide variant not provided [RCV000947221] Chr9:136978984 [GRCh38]
Chr9:139873436 [GRCh37]
Chr9:9q34.3
benign
NM_000954.6(PTGDS):c.115-8C>T single nucleotide variant not provided [RCV000947222] Chr9:136978985 [GRCh38]
Chr9:139873437 [GRCh37]
Chr9:9q34.3
benign
NM_000954.6(PTGDS):c.564G>A (p.Thr188=) single nucleotide variant not provided [RCV000963066] Chr9:136980846 [GRCh38]
Chr9:139875298 [GRCh37]
Chr9:9q34.3
benign
GRCh37/hg19 9q34.3(chr9:139766260-140186072)x3 copy number gain not provided [RCV000848688] Chr9:139766260..140186072 [GRCh37]
Chr9:9q34.3
uncertain significance
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 copy number gain not provided [RCV000847808] Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3
pathogenic
NC_000009.11:g.(?_138594085)_(140062314_?)dup duplication Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV001033771] Chr9:138594085..140062314 [GRCh37]
Chr9:9q34.3
uncertain significance
GRCh37/hg19 9q34.3(chr9:138225001-141015001) copy number loss Microcephaly [RCV001252947] Chr9:138225001..141015001 [GRCh37]
Chr9:9q34.3
pathogenic
GRCh37/hg19 9q34.3(chr9:139776707-140234193)x3 copy number gain not provided [RCV001259536] Chr9:139776707..140234193 [GRCh37]
Chr9:9q34.3
uncertain significance
NC_000009.11:g.(?_139018777)_(141018984_?)del deletion Kleefstra syndrome 1 [RCV001267844] Chr9:139018777..141018984 [GRCh37]
Chr9:9q34.3
pathogenic
NC_000009.11:g.(?_138594085)_(140062314_?)dup duplication Early infantile epileptic encephalopathy 14 [RCV001305481]|Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV001033771] Chr9:138594085..140062314 [GRCh37]
Chr9:9q34.3
uncertain significance
GRCh37/hg19 9q34.3(chr9:139284464-141018984) copy number loss Cryptorchidism [RCV001352666] Chr9:139284464..141018984 [GRCh37]
Chr9:9q34.3
pathogenic
NC_000009.11:g.(?_139258557)_(140003427_?)del deletion Candidiasis, familial, 2 [RCV001380370] Chr9:139258557..140003427 [GRCh37]
Chr9:9q34.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9592 AgrOrtholog
COSMIC PTGDS COSMIC
Ensembl Genes ENSG00000107317 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000360687 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000392633 UniProtKB/TrEMBL
  ENSP00000392692 UniProtKB/TrEMBL
  ENSP00000397468 UniProtKB/TrEMBL
  ENSP00000491730 UniProtKB/TrEMBL
Ensembl Transcript ENST00000371625 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000444903 UniProtKB/TrEMBL
  ENST00000446677 UniProtKB/TrEMBL
  ENST00000457950 UniProtKB/TrEMBL
  ENST00000640716 UniProtKB/TrEMBL
Gene3D-CATH 2.40.128.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000107317 GTEx
HGNC ID HGNC:9592 ENTREZGENE
Human Proteome Map PTGDS Human Proteome Map
InterPro Calycin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Lipocalin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Lipocalin_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Lipocln_cytosolic_FA-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PstgldnD_synth UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5730 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 5730 ENTREZGENE
OMIM 176803 OMIM
PANTHER PTHR11430 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11430:SF86 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Lipocalin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33945 PharmGKB, RGD
PROSITE LIPOCALIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50814 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R8G3 ENTREZGENE, UniProtKB/TrEMBL
  A0A1W2PPU3_HUMAN UniProtKB/TrEMBL
  H0Y4L4_HUMAN UniProtKB/TrEMBL
  H0Y5A1_HUMAN UniProtKB/TrEMBL
  P41222 ENTREZGENE, UniProtKB/Swiss-Prot
  Q5SQ11_HUMAN UniProtKB/TrEMBL
UniProt Secondary B2R727 UniProtKB/Swiss-Prot
  Q5SQ10 UniProtKB/Swiss-Prot
  Q7M4P3 UniProtKB/Swiss-Prot
  Q9UC22 UniProtKB/Swiss-Prot
  Q9UCC9 UniProtKB/Swiss-Prot
  Q9UCD9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 PTGDS  prostaglandin D2 synthase    prostaglandin D2 synthase 21kDa (brain)  Symbol and/or name change 5135510 APPROVED
2011-08-16 PTGDS  prostaglandin D2 synthase 21kDa (brain)  PTGDS  prostaglandin D2 synthase 21kDa (brain)  Symbol and/or name change 5135510 APPROVED