PTGFRN (prostaglandin F2 receptor inhibitor) - Rat Genome Database

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Gene: PTGFRN (prostaglandin F2 receptor inhibitor) Homo sapiens
Analyze
Symbol: PTGFRN
Name: prostaglandin F2 receptor inhibitor
RGD ID: 733934
HGNC Page HGNC:9601
Description: Predicted to be involved in myoblast fusion involved in skeletal muscle regeneration. Predicted to act upstream of or within lipid droplet organization. Located in cell surface.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: CD315; CD9 partner 1; CD9P-1; EWI-F; FLJ11001; FPRP; glu-Trp-Ile EWI motif-containing protein F; KIAA1436; prostaglandin F2 receptor negative regulator; prostaglandin F2-alpha receptor regulatory protein; prostaglandin F2-alpha receptor-associated protein; SMAP-6
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
GRCh381116,909,916 - 116,990,353 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1116,909,916 - 116,990,353 (+)EnsemblGRCh38hg38GRCh38
GRCh371117,452,538 - 117,532,975 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361117,254,212 - 117,334,495 (+)NCBINCBI36Build 36hg18NCBI36
Build 341117,164,730 - 117,245,014NCBI
Celera1115,712,896 - 115,761,542 (+)NCBICelera
Cytogenetic Map1p13.1NCBI
HuRef1115,311,314 - 115,391,612 (+)NCBIHuRef
CHM1_11117,567,600 - 117,647,875 (+)NCBICHM1_1
T2T-CHM13v2.01116,920,364 - 117,000,790 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
COVID-19  (HEP)
genetic disease  (IAGP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
2-hydroxypropanoic acid  (EXP)
3-chloropropane-1,2-diol  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
acrylamide  (EXP)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
alendronic acid  (ISO)
all-trans-retinoic acid  (EXP)
amitrole  (ISO)
ammonium chloride  (ISO)
aristolochic acid A  (EXP)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (ISO)
Bisphenol B  (EXP)
butanal  (EXP)
cadmium dichloride  (ISO)
caffeine  (ISO)
carbamazepine  (EXP)
choline  (ISO)
cisplatin  (EXP)
clobetasol  (ISO)
clotrimazole  (ISO)
cyclosporin A  (EXP)
dicrotophos  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
ethanol  (ISO)
fenvalerate  (ISO)
flavonoids  (ISO)
folic acid  (ISO)
gentamycin  (ISO)
ivermectin  (EXP)
L-methionine  (ISO)
lipopolysaccharide  (EXP)
methimazole  (ISO)
methoxyacetic acid  (ISO)
methyl methanesulfonate  (EXP)
methylmercury chloride  (ISO)
Monobutylphthalate  (ISO)
N-nitrosodiethylamine  (ISO)
ochratoxin A  (ISO)
oxaliplatin  (ISO)
paracetamol  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP)
pirinixic acid  (ISO)
progesterone  (EXP)
quercetin  (EXP)
rac-lactic acid  (EXP)
raloxifene  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
sodium fluoride  (ISO)
Soman  (ISO)
sunitinib  (EXP)
temozolomide  (EXP)
testosterone  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
valproic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Human chromosome 1 localization of the gene for a prostaglandin F2alpha receptor negative regulatory protein. Orlicky DJ, etal., Hum Genet 1996 May;97(5):655-8.
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
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:8804121   PMID:8889549   PMID:9643346   PMID:10718198   PMID:11087758   PMID:11278880   PMID:11673522   PMID:12477932   PMID:14702039   PMID:16303743   PMID:16344560   PMID:16537545  
PMID:16690612   PMID:17407154   PMID:17960739   PMID:19581412   PMID:19703604   PMID:19850283   PMID:20932654   PMID:21206492   PMID:21873635   PMID:22268729   PMID:22939629   PMID:23091066  
PMID:23289620   PMID:23383108   PMID:26186194   PMID:26686862   PMID:26760575   PMID:28514442   PMID:29180619   PMID:29507755   PMID:30024968   PMID:30833792   PMID:31073040   PMID:31377205  
PMID:31932471   PMID:33503070   PMID:33961781   PMID:34709727   PMID:35271311   PMID:35337019   PMID:35696571   PMID:36215168   PMID:36584595   PMID:36849460   PMID:37499664  


Genomics

Comparative Map Data
PTGFRN
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381116,909,916 - 116,990,353 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1116,909,916 - 116,990,353 (+)EnsemblGRCh38hg38GRCh38
GRCh371117,452,538 - 117,532,975 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361117,254,212 - 117,334,495 (+)NCBINCBI36Build 36hg18NCBI36
Build 341117,164,730 - 117,245,014NCBI
Celera1115,712,896 - 115,761,542 (+)NCBICelera
Cytogenetic Map1p13.1NCBI
HuRef1115,311,314 - 115,391,612 (+)NCBIHuRef
CHM1_11117,567,600 - 117,647,875 (+)NCBICHM1_1
T2T-CHM13v2.01116,920,364 - 117,000,790 (+)NCBIT2T-CHM13v2.0
Ptgfrn
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm393100,947,546 - 101,018,061 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl3100,947,548 - 101,017,594 (-)EnsemblGRCm39 Ensembl
GRCm383101,040,230 - 101,110,745 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl3101,040,232 - 101,110,278 (-)EnsemblGRCm38mm10GRCm38
MGSCv373100,844,159 - 100,914,089 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv363101,169,297 - 101,239,227 (-)NCBIMGSCv36mm8
Celera3103,248,506 - 103,317,952 (-)NCBICelera
Cytogenetic Map3F2.2NCBI
cM Map343.93NCBI
Ptgfrn
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82191,158,166 - 191,233,432 (-)NCBIGRCr8
mRatBN7.22188,469,521 - 188,544,795 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2188,469,521 - 188,544,795 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2196,107,003 - 196,178,612 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02193,959,387 - 194,030,951 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02188,785,962 - 188,857,737 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02203,423,143 - 203,494,391 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2203,423,143 - 203,494,391 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02222,873,519 - 222,915,163 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42196,091,505 - 196,162,950 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12196,054,258 - 196,125,704 (-)NCBI
Celera2180,913,173 - 180,954,194 (-)NCBICelera
Cytogenetic Map2q34NCBI
Ptgfrn
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543520,046,712 - 20,092,051 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495543520,046,712 - 20,092,051 (+)NCBIChiLan1.0ChiLan1.0
PTGFRN
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21109,563,264 - 109,643,584 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11109,162,738 - 109,243,014 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0185,530,198 - 85,610,720 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11120,524,859 - 120,608,105 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1120,524,859 - 120,608,105 (-)Ensemblpanpan1.1panPan2
PTGFRN
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11754,337,778 - 54,378,363 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1754,296,361 - 54,379,662 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1753,943,975 - 54,024,252 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01755,178,335 - 55,258,707 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1755,178,341 - 55,260,006 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11754,215,129 - 54,295,138 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01754,251,583 - 54,331,817 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01754,827,228 - 54,907,257 (+)NCBIUU_Cfam_GSD_1.0
Ptgfrn
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505812,378,681 - 12,453,362 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366272,069,336 - 2,110,336 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366272,069,066 - 2,108,526 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PTGFRN
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl4103,745,181 - 103,793,138 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.14103,747,007 - 103,835,192 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24113,711,852 - 113,799,380 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PTGFRN
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12016,737,335 - 16,815,439 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2016,736,833 - 16,815,651 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603819,410,979 - 19,489,341 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ptgfrn
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462477212,603,700 - 12,685,840 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462477212,603,098 - 12,689,071 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PTGFRN
62 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1p13.1-12(chr1:116679122-119290029)x1 copy number loss See cases [RCV000051079] Chr1:116679122..119290029 [GRCh38]
Chr1:117221744..119832652 [GRCh37]
Chr1:117023267..119634175 [NCBI36]
Chr1:1p13.1-12		 pathogenic
GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3 copy number gain See cases [RCV000051827] Chr1:109756630..118650204 [GRCh38]
Chr1:110299252..119192827 [GRCh37]
Chr1:110100775..118994350 [NCBI36]
Chr1:1p13.3-12		 pathogenic
GRCh38/hg38 1p13.1-12(chr1:116059621-120130051)x3 copy number gain See cases [RCV000051831] Chr1:116059621..120130051 [GRCh38]
Chr1:116602242..120672637 [GRCh37]
Chr1:116403765..120474160 [NCBI36]
Chr1:1p13.1-12		 pathogenic
NM_020440.3(PTGFRN):c.2381C>T (p.Ser794Phe) single nucleotide variant Malignant melanoma [RCV000064043] Chr1:116984893 [GRCh38]
Chr1:117527515 [GRCh37]
Chr1:117329038 [NCBI36]
Chr1:1p13.1		 not provided
NM_020440.3(PTGFRN):c.50-3715A>G single nucleotide variant Lung cancer [RCV000089738] Chr1:116938000 [GRCh38]
Chr1:117480622 [GRCh37]
Chr1:1p13.1		 uncertain significance
GRCh38/hg38 1p13.1-12(chr1:116752007-117309842)x3 copy number gain See cases [RCV000137829] Chr1:116752007..117309842 [GRCh38]
Chr1:117294629..117852464 [GRCh37]
Chr1:117096152..117653987 [NCBI36]
Chr1:1p13.1-12		 uncertain significance
GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3 copy number gain See cases [RCV000142953] Chr1:104325484..119977655 [GRCh38]
Chr1:104868106..120471049 [GRCh37]
Chr1:104669629..120321801 [NCBI36]
Chr1:1p21.1-12		 pathogenic
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12		 likely benign
NM_020440.4(PTGFRN):c.2206T>A (p.Ser736Thr) single nucleotide variant Inborn genetic diseases [RCV003268883] Chr1:116984718 [GRCh38]
Chr1:117527340 [GRCh37]
Chr1:1p13.1		 uncertain significance
GRCh37/hg19 1p13.2-12(chr1:114507501-120494232)x3 copy number gain See cases [RCV000449311] Chr1:114507501..120494232 [GRCh37]
Chr1:1p13.2-12		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_020440.4(PTGFRN):c.2588T>C (p.Val863Ala) single nucleotide variant Inborn genetic diseases [RCV003285976] Chr1:116986915 [GRCh38]
Chr1:117529537 [GRCh37]
Chr1:1p13.1		 uncertain significance
NM_020440.4(PTGFRN):c.2101G>C (p.Val701Leu) single nucleotide variant Inborn genetic diseases [RCV003290402] Chr1:116974257 [GRCh38]
Chr1:117516879 [GRCh37]
Chr1:1p13.1		 uncertain significance
GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3 copy number gain See cases [RCV000512354] Chr1:93837992..121343783 [GRCh37]
Chr1:1p22.1-11.2		 pathogenic
GRCh37/hg19 1p13.1(chr1:117180331-117489298)x1 copy number loss not provided [RCV000684618] Chr1:117180331..117489298 [GRCh37]
Chr1:1p13.1		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_020440.4(PTGFRN):c.1839G>T (p.Val613=) single nucleotide variant not provided [RCV000914458] Chr1:116967110 [GRCh38]
Chr1:117509732 [GRCh37]
Chr1:1p13.1		 likely benign
NM_020440.4(PTGFRN):c.685G>A (p.Ala229Thr) single nucleotide variant not provided [RCV000900171] Chr1:116944945 [GRCh38]
Chr1:117487567 [GRCh37]
Chr1:1p13.1		 likely benign
NM_020440.4(PTGFRN):c.294C>T (p.Ala98=) single nucleotide variant not provided [RCV000909155] Chr1:116941959 [GRCh38]
Chr1:117484581 [GRCh37]
Chr1:1p13.1		 benign
NM_020440.4(PTGFRN):c.2310C>T (p.Arg770=) single nucleotide variant not provided [RCV000909156] Chr1:116984822 [GRCh38]
Chr1:117527444 [GRCh37]
Chr1:1p13.1		 benign
NM_020440.4(PTGFRN):c.461C>G (p.Pro154Arg) single nucleotide variant Inborn genetic diseases [RCV003248463] Chr1:116944721 [GRCh38]
Chr1:117487343 [GRCh37]
Chr1:1p13.1		 uncertain significance
NM_020440.4(PTGFRN):c.1549G>T (p.Val517Leu) single nucleotide variant Inborn genetic diseases [RCV003292026] Chr1:116961578 [GRCh38]
Chr1:117504200 [GRCh37]
Chr1:1p13.1		 uncertain significance
NM_020440.4(PTGFRN):c.2040G>A (p.Glu680=) single nucleotide variant not provided [RCV000914459] Chr1:116967311 [GRCh38]
Chr1:117509933 [GRCh37]
Chr1:1p13.1		 likely benign
NM_020440.4(PTGFRN):c.725A>G (p.Gln242Arg) single nucleotide variant not provided [RCV000882086] Chr1:116944985 [GRCh38]
Chr1:117487607 [GRCh37]
Chr1:1p13.1		 likely benign
NM_020440.4(PTGFRN):c.462G>A (p.Pro154=) single nucleotide variant not provided [RCV000955764] Chr1:116944722 [GRCh38]
Chr1:117487344 [GRCh37]
Chr1:1p13.1		 benign
NM_020440.4(PTGFRN):c.1542C>T (p.Tyr514=) single nucleotide variant not provided [RCV000955765] Chr1:116961571 [GRCh38]
Chr1:117504193 [GRCh37]
Chr1:1p13.1		 benign
GRCh37/hg19 1p21.2-12(chr1:102021465-119737478) copy number loss Seizure [RCV001352640] Chr1:102021465..119737478 [GRCh37]
Chr1:1p21.2-12		 pathogenic
GRCh37/hg19 1p13.3-11.2(chr1:111647582-121343783) copy number gain not specified [RCV002053602] Chr1:111647582..121343783 [GRCh37]
Chr1:1p13.3-11.2		 pathogenic
NM_020440.4(PTGFRN):c.1057G>A (p.Ala353Thr) single nucleotide variant Inborn genetic diseases [RCV002990230] Chr1:116949416 [GRCh38]
Chr1:117492038 [GRCh37]
Chr1:1p13.1		 uncertain significance
NM_020440.4(PTGFRN):c.514G>A (p.Ala172Thr) single nucleotide variant Inborn genetic diseases [RCV002684752] Chr1:116944774 [GRCh38]
Chr1:117487396 [GRCh37]
Chr1:1p13.1		 uncertain significance
NM_020440.4(PTGFRN):c.1570C>T (p.Arg524Trp) single nucleotide variant Inborn genetic diseases [RCV002992766] Chr1:116961599 [GRCh38]
Chr1:117504221 [GRCh37]
Chr1:1p13.1		 uncertain significance
NM_020440.4(PTGFRN):c.1124T>C (p.Val375Ala) single nucleotide variant Inborn genetic diseases [RCV002860751] Chr1:116949483 [GRCh38]
Chr1:117492105 [GRCh37]
Chr1:1p13.1		 uncertain significance
NM_020440.4(PTGFRN):c.1822C>A (p.Leu608Met) single nucleotide variant Inborn genetic diseases [RCV002778319] Chr1:116967093 [GRCh38]
Chr1:117509715 [GRCh37]
Chr1:1p13.1		 uncertain significance
NM_020440.4(PTGFRN):c.2273C>T (p.Ser758Phe) single nucleotide variant Inborn genetic diseases [RCV002779366] Chr1:116984785 [GRCh38]
Chr1:117527407 [GRCh37]
Chr1:1p13.1		 uncertain significance
NM_020440.4(PTGFRN):c.1393G>A (p.Ala465Thr) single nucleotide variant Inborn genetic diseases [RCV002732632] Chr1:116961422 [GRCh38]
Chr1:117504044 [GRCh37]
Chr1:1p13.1		 uncertain significance
NM_020440.4(PTGFRN):c.650G>A (p.Ser217Asn) single nucleotide variant Inborn genetic diseases [RCV002794209] Chr1:116944910 [GRCh38]
Chr1:117487532 [GRCh37]
Chr1:1p13.1		 uncertain significance
NM_020440.4(PTGFRN):c.243G>T (p.Gln81His) single nucleotide variant Inborn genetic diseases [RCV002869937] Chr1:116941908 [GRCh38]
Chr1:117484530 [GRCh37]
Chr1:1p13.1		 uncertain significance
NM_020440.4(PTGFRN):c.655G>T (p.Asp219Tyr) single nucleotide variant Inborn genetic diseases [RCV002762195] Chr1:116944915 [GRCh38]
Chr1:117487537 [GRCh37]
Chr1:1p13.1		 uncertain significance
NM_020440.4(PTGFRN):c.1645G>A (p.Val549Met) single nucleotide variant Inborn genetic diseases [RCV002978737] Chr1:116966916 [GRCh38]
Chr1:117509538 [GRCh37]
Chr1:1p13.1		 uncertain significance
NM_020440.4(PTGFRN):c.701T>C (p.Val234Ala) single nucleotide variant Inborn genetic diseases [RCV002661252] Chr1:116944961 [GRCh38]
Chr1:117487583 [GRCh37]
Chr1:1p13.1		 uncertain significance
NM_020440.4(PTGFRN):c.397G>C (p.Glu133Gln) single nucleotide variant Inborn genetic diseases [RCV002952235] Chr1:116942062 [GRCh38]
Chr1:117484684 [GRCh37]
Chr1:1p13.1		 uncertain significance
NM_020440.4(PTGFRN):c.1177G>A (p.Val393Met) single nucleotide variant Inborn genetic diseases [RCV002844944] Chr1:116949536 [GRCh38]
Chr1:117492158 [GRCh37]
Chr1:1p13.1		 likely benign
NM_020440.4(PTGFRN):c.988G>A (p.Val330Met) single nucleotide variant Inborn genetic diseases [RCV002822433] Chr1:116949347 [GRCh38]
Chr1:117491969 [GRCh37]
Chr1:1p13.1		 uncertain significance
NM_020440.4(PTGFRN):c.797C>T (p.Ala266Val) single nucleotide variant Inborn genetic diseases [RCV002704452] Chr1:116945057 [GRCh38]
Chr1:117487679 [GRCh37]
Chr1:1p13.1		 uncertain significance
NM_020440.4(PTGFRN):c.871G>A (p.Glu291Lys) single nucleotide variant Inborn genetic diseases [RCV002668227] Chr1:116949230 [GRCh38]
Chr1:117491852 [GRCh37]
Chr1:1p13.1		 uncertain significance
NM_020440.4(PTGFRN):c.496G>A (p.Glu166Lys) single nucleotide variant Inborn genetic diseases [RCV002713044] Chr1:116944756 [GRCh38]
Chr1:117487378 [GRCh37]
Chr1:1p13.1		 uncertain significance
NM_020440.4(PTGFRN):c.1370A>G (p.Asn457Ser) single nucleotide variant Inborn genetic diseases [RCV002803986] Chr1:116961399 [GRCh38]
Chr1:117504021 [GRCh37]
Chr1:1p13.1		 uncertain significance
NM_020440.4(PTGFRN):c.2611C>T (p.Arg871Cys) single nucleotide variant Inborn genetic diseases [RCV002984626] Chr1:116986938 [GRCh38]
Chr1:117529560 [GRCh37]
Chr1:1p13.1		 uncertain significance
NM_020440.4(PTGFRN):c.1151G>T (p.Arg384Met) single nucleotide variant Inborn genetic diseases [RCV002696698] Chr1:116949510 [GRCh38]
Chr1:117492132 [GRCh37]
Chr1:1p13.1		 uncertain significance
NM_020440.4(PTGFRN):c.574G>C (p.Ala192Pro) single nucleotide variant Inborn genetic diseases [RCV002763347] Chr1:116944834 [GRCh38]
Chr1:117487456 [GRCh37]
Chr1:1p13.1		 uncertain significance
NM_020440.4(PTGFRN):c.760G>A (p.Ala254Thr) single nucleotide variant Inborn genetic diseases [RCV002767350] Chr1:116945020 [GRCh38]
Chr1:117487642 [GRCh37]
Chr1:1p13.1		 uncertain significance
NM_020440.4(PTGFRN):c.1055A>G (p.Asp352Gly) single nucleotide variant Inborn genetic diseases [RCV002812690] Chr1:116949414 [GRCh38]
Chr1:117492036 [GRCh37]
Chr1:1p13.1		 uncertain significance
NM_020440.4(PTGFRN):c.1384G>A (p.Glu462Lys) single nucleotide variant Inborn genetic diseases [RCV002836344] Chr1:116961413 [GRCh38]
Chr1:117504035 [GRCh37]
Chr1:1p13.1		 uncertain significance
NM_020440.4(PTGFRN):c.2084A>G (p.His695Arg) single nucleotide variant Inborn genetic diseases [RCV002656911] Chr1:116974240 [GRCh38]
Chr1:117516862 [GRCh37]
Chr1:1p13.1		 uncertain significance
NM_020440.4(PTGFRN):c.1992G>C (p.Arg664Ser) single nucleotide variant Inborn genetic diseases [RCV003188783] Chr1:116967263 [GRCh38]
Chr1:117509885 [GRCh37]
Chr1:1p13.1		 uncertain significance
NM_020440.4(PTGFRN):c.646C>G (p.His216Asp) single nucleotide variant Inborn genetic diseases [RCV003194962] Chr1:116944906 [GRCh38]
Chr1:117487528 [GRCh37]
Chr1:1p13.1		 uncertain significance
NM_020440.4(PTGFRN):c.607G>A (p.Gly203Ser) single nucleotide variant Inborn genetic diseases [RCV003212788] Chr1:116944867 [GRCh38]
Chr1:117487489 [GRCh37]
Chr1:1p13.1		 uncertain significance
NM_020440.4(PTGFRN):c.104T>C (p.Val35Ala) single nucleotide variant Inborn genetic diseases [RCV003215312] Chr1:116941769 [GRCh38]
Chr1:117484391 [GRCh37]
Chr1:1p13.1		 uncertain significance
NM_020440.4(PTGFRN):c.1358G>A (p.Arg453Gln) single nucleotide variant Inborn genetic diseases [RCV003202999] Chr1:116961387 [GRCh38]
Chr1:117504009 [GRCh37]
Chr1:1p13.1		 uncertain significance
NM_020440.4(PTGFRN):c.937G>T (p.Val313Leu) single nucleotide variant Inborn genetic diseases [RCV003205848] Chr1:116949296 [GRCh38]
Chr1:117491918 [GRCh37]
Chr1:1p13.1		 uncertain significance
NM_020440.4(PTGFRN):c.841G>T (p.Ala281Ser) single nucleotide variant Inborn genetic diseases [RCV003208802] Chr1:116949200 [GRCh38]
Chr1:117491822 [GRCh37]
Chr1:1p13.1		 uncertain significance
NM_020440.4(PTGFRN):c.731C>T (p.Ser244Phe) single nucleotide variant Inborn genetic diseases [RCV003177985] Chr1:116944991 [GRCh38]
Chr1:117487613 [GRCh37]
Chr1:1p13.1		 uncertain significance
NM_020440.4(PTGFRN):c.2389C>T (p.Pro797Ser) single nucleotide variant Inborn genetic diseases [RCV003361206] Chr1:116984901 [GRCh38]
Chr1:117527523 [GRCh37]
Chr1:1p13.1		 uncertain significance
NM_020440.4(PTGFRN):c.1502G>A (p.Arg501Gln) single nucleotide variant Inborn genetic diseases [RCV003373362] Chr1:116961531 [GRCh38]
Chr1:117504153 [GRCh37]
Chr1:1p13.1		 uncertain significance
NM_020440.4(PTGFRN):c.2599C>T (p.Arg867Trp) single nucleotide variant Inborn genetic diseases [RCV003386006] Chr1:116986926 [GRCh38]
Chr1:117529548 [GRCh37]
Chr1:1p13.1		 uncertain significance
NM_020440.4(PTGFRN):c.941C>T (p.Thr314Met) single nucleotide variant Inborn genetic diseases [RCV003347537] Chr1:116949300 [GRCh38]
Chr1:117491922 [GRCh37]
Chr1:1p13.1		 uncertain significance
GRCh37/hg19 1p13.1-12(chr1:117338180-117990154)x1 copy number loss not specified [RCV003986740] Chr1:117338180..117990154 [GRCh37]
Chr1:1p13.1-12		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1884
Count of miRNA genes:1008
Interacting mature miRNAs:1209
Transcripts:ENST00000393203, ENST00000496699, ENST00000497385
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.

Markers in Region
D1S2198  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371117,532,692 - 117,532,946UniSTSGRCh37
Build 361117,334,215 - 117,334,469RGDNCBI36
Celera1115,761,262 - 115,761,516RGD
Cytogenetic Map1p13.1UniSTS
HuRef1115,391,332 - 115,391,586UniSTS
Whitehead-YAC Contig Map1 UniSTS
U26664  
Human AssemblyChrPosition (strand)SourceJBrowse
Celera1115,761,357 - 115,761,513RGD
Cytogenetic Map1p13.1UniSTS
HuRef1115,391,427 - 115,391,583UniSTS
SHGC-75379  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371117,530,253 - 117,530,395UniSTSGRCh37
Build 361117,331,776 - 117,331,918RGDNCBI36
Celera1115,758,823 - 115,758,965RGD
Cytogenetic Map1p13.1UniSTS
HuRef1115,388,893 - 115,389,035UniSTS
TNG Radiation Hybrid Map178095.0UniSTS
GeneMap99-GB4 RH Map1388.17UniSTS
SGC33573  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371117,530,209 - 117,530,339UniSTSGRCh37
Build 361117,331,732 - 117,331,862RGDNCBI36
Celera1115,758,779 - 115,758,909RGD
Cytogenetic Map1p13.1UniSTS
HuRef1115,388,849 - 115,388,979UniSTS
Whitehead-RH Map1438.1UniSTS
RH91725  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371117,532,809 - 117,532,946UniSTSGRCh37
Build 361117,334,332 - 117,334,469RGDNCBI36
Celera1115,761,379 - 115,761,516RGD
Cytogenetic Map1p13.1UniSTS
HuRef1115,391,449 - 115,391,586UniSTS
GeneMap99-GB4 RH Map1390.6UniSTS
D1S2203  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371117,471,683 - 117,471,911UniSTSGRCh37
Build 361117,273,206 - 117,273,434RGDNCBI36
Celera1115,700,253 - 115,700,481RGD
Cytogenetic Map1p13.1UniSTS
HuRef1115,330,308 - 115,330,536UniSTS
Whitehead-RH Map1442.5UniSTS
Whitehead-YAC Contig Map1 UniSTS
D1S3546  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371117,531,062 - 117,531,201UniSTSGRCh37
Build 361117,332,585 - 117,332,724RGDNCBI36
Celera1115,759,632 - 115,759,771RGD
Cytogenetic Map1p13.1UniSTS
HuRef1115,389,702 - 115,389,841UniSTS
GeneMap99-GB4 RH Map1390.6UniSTS
G34883  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371117,531,062 - 117,531,196UniSTSGRCh37
Build 361117,332,585 - 117,332,719RGDNCBI36
Celera1115,759,632 - 115,759,766RGD
Cytogenetic Map1p13.1UniSTS
HuRef1115,389,702 - 115,389,836UniSTS
SHGC-75388  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371117,531,489 - 117,531,671UniSTSGRCh37
Build 361117,333,012 - 117,333,194RGDNCBI36
Celera1115,760,059 - 115,760,241RGD
Cytogenetic Map1p13.1UniSTS
HuRef1115,390,129 - 115,390,311UniSTS
TNG Radiation Hybrid Map178095.0UniSTS
GeneMap99-GB4 RH Map1390.6UniSTS
SHGC-75389  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371117,532,048 - 117,532,267UniSTSGRCh37
Build 361117,333,571 - 117,333,790RGDNCBI36
Celera1115,760,618 - 115,760,837RGD
Cytogenetic Map1p13.1UniSTS
HuRef1115,390,688 - 115,390,907UniSTS
TNG Radiation Hybrid Map178100.0UniSTS
GeneMap99-GB4 RH Map1392.21UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2224 1577 1031 298 248 142 2445 1273 460 248 1178 1197 171 778 1160 5
Low 214 764 694 326 548 323 1877 883 3270 169 278 403 4 1 426 1594 2
Below cutoff 1 645 1 947 35 37 4 1 4 5 34 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_020440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA045111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB014734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB037857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL157904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL445231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC042164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC098142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC114520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC139718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC152454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA572787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF455024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000393203   ⟹   ENSP00000376899
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1116,909,916 - 116,990,353 (+)Ensembl
RefSeq Acc Id: ENST00000496699
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1116,967,060 - 116,974,497 (+)Ensembl
RefSeq Acc Id: ENST00000497385
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1116,987,040 - 116,990,350 (+)Ensembl
RefSeq Acc Id: NM_020440   ⟹   NP_065173
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381116,909,916 - 116,990,353 (+)NCBI
GRCh371117,452,689 - 117,532,972 (+)ENTREZGENE
Build 361117,254,212 - 117,334,495 (+)NCBI Archive
HuRef1115,311,314 - 115,391,612 (+)ENTREZGENE
CHM1_11117,567,456 - 117,647,883 (+)NCBI
T2T-CHM13v2.01116,920,364 - 117,000,790 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017001874   ⟹   XP_016857363
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381116,931,067 - 116,990,353 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054337811   ⟹   XP_054193786
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01116,941,515 - 117,000,790 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_065173   ⟸   NM_020440
- Peptide Label: precursor
- UniProtKB: Q5VVU9 (UniProtKB/Swiss-Prot),   Q8N2K6 (UniProtKB/Swiss-Prot),   Q9P2B2 (UniProtKB/Swiss-Prot),   Q4QQP8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016857363   ⟸   XM_017001874
- Peptide Label: isoform X1
- UniProtKB: Q4QQP8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000376899   ⟸   ENST00000393203
RefSeq Acc Id: XP_054193786   ⟸   XM_054337811
- Peptide Label: isoform X1
- UniProtKB: Q4QQP8 (UniProtKB/TrEMBL)
Protein Domains
Ig-like   Ig-like C2-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9P2B2-F1-model_v2 AlphaFold Q9P2B2 1-879 view protein structure

Promoters
RGD ID:6856790
Promoter ID:EPDNEW_H1539
Type:initiation region
Name:PTGFRN_1
Description:prostaglandin F2 receptor inhibitor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1540  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381116,910,057 - 116,910,117EPDNEW
RGD ID:6856750
Promoter ID:EPDNEW_H1540
Type:initiation region
Name:PTGFRN_2
Description:prostaglandin F2 receptor inhibitor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1539  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381116,910,162 - 116,910,222EPDNEW
RGD ID:6786338
Promoter ID:HG_KWN:4316
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562
Transcripts:OTTHUMT00000033271
Position:
Human AssemblyChrPosition (strand)Source
Build 361117,254,121 - 117,254,622 (+)MPROMDB
RGD ID:6786339
Promoter ID:HG_KWN:4319
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Jurkat
Transcripts:OTTHUMT00000033273
Position:
Human AssemblyChrPosition (strand)Source
Build 361117,330,896 - 117,331,577 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9601 AgrOrtholog
COSMIC PTGFRN COSMIC
Ensembl Genes ENSG00000134247 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000393203 ENTREZGENE
  ENST00000393203.3 UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000134247 GTEx
HGNC ID HGNC:9601 ENTREZGENE
Human Proteome Map PTGFRN Human Proteome Map
InterPro Ig-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_sub UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_V-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5738 UniProtKB/Swiss-Prot
NCBI Gene 5738 ENTREZGENE
OMIM 601204 OMIM
PANTHER PROSTAGLANDIN F2 RECEPTOR NEGATIVE REGULATOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  V-SET AND TRANSMEMBRANE DOMAIN-CONTAINING PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam V-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33950 PharmGKB
PROSITE IG_LIKE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART IGv UniProtKB/Swiss-Prot
  SM00409 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48726 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A4QPA1_HUMAN UniProtKB/TrEMBL
  FPRP_HUMAN UniProtKB/Swiss-Prot
  Q1WWL2_HUMAN UniProtKB/TrEMBL
  Q4QQP8 ENTREZGENE, UniProtKB/TrEMBL
  Q5VVU9 ENTREZGENE
  Q8N2K6 ENTREZGENE
  Q9P2B2 ENTREZGENE
UniProt Secondary Q5VVU9 UniProtKB/Swiss-Prot
  Q8N2K6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2013-01-29 PTGFRN  prostaglandin F2 receptor inhibitor    prostaglandin F2 receptor negative regulator  Symbol and/or name change 5135510 APPROVED