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Gene id 5241
Gene Summary     SNPs    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed    

Gene Summary
Gene Symbol PGR   Gene   UCSC   Ensembl
Aliases NR3C3, PR
Gene name progesterone receptor
Alternate names progesterone receptor, nuclear receptor subfamily 3 group C member 3,
Gene location 11q22.1 (101130680: 101029623)     Exons: 9     NC_000011.10
Gene summary(Entrez) This gene encodes a member of the steroid receptor superfamily. The encoded protein mediates the physiological effects of progesterone, which plays a central role in reproductive events associated with the establishment and maintenance of pregnancy. This
OMIM 607311

SNPs
rs2020880

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.101041997G>A
NC_000011.9   g.100912728G>A
NG_016475.1   g.92817C>T
NM_000926.4   c.2594C>T
NM_001202474.3   c.2102C>T
NR_073141.2   n.2535C>T
NR_073142.2   n.2418C>T
NM_001271161.2   c.1796C>T
NR_073143.2   n.2150C>T
NM_001271162.2   c.812C>T
NM_0012711  

rs3740753

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.101128040C>G
NC_000011.9   g.100998771C>G
NG_016475.1   g.6774G>C
NM_000926.4   c.1031G>C
NM_001202474.3   c.539G>C
NR_073141.2   n.1024G>C
NR_073142.2   n.1024G>C
NM_001271161.2   c.539G>C
NR_073143.2   n.1024G>C
XM_006718858.3   c.1031G>C
XM_011542869  

Protein Summary
Protein general information P06401  

Name: Progesterone receptor (PR) (Nuclear receptor subfamily 3 group C member 3)

Length: 933  Mass: 98,981

Tissue specificity: Testis specific.

Sequence MTELKAKGPRAPHVAGGPPSPEVGSPLLCRPAAGPFPGSQTSDTLPEVSAIPISLDGLLFPRPCQGQDPSDEKTQ
DQQSLSDVEGAYSRAEATRGAGGSSSSPPEKDSGLLDSVLDTLLAPSGPGQSQPSPPACEVTSSWCLFGPELPED
PPAAPATQRVLSPLMSRSGCKVGDSSGTAAAHKVLPRGLSPARQLLLPASESPHWSGAPVKPSPQAAAVEVEEED
GSESEESAGPLLKGKPRALGGAAAGGGAAAVPPGAAAGGVALVPKEDSRFSAPRVALVEQDAPMAPGRSPLATTV
MDFIHVPILPLNHALLAARTRQLLEDESYDGGAGAASAFAPPRSSPCASSTPVAVGDFPDCAYPPDAEPKDDAYP
LYSDFQPPALKIKEEEEGAEASARSPRSYLVAGANPAAFPDFPLGPPPPLPPRATPSRPGEAAVTAAPASASVSS
ASSSGSTLECILYKAEGAPPQQGPFAPPPCKAPGASGCLLPRDGLPSTSASAAAAGAAPALYPALGLNGLPQLGY
QAAVLKEGLPQVYPPYLNYLRPDSEASQSPQYSFESLPQKICLICGDEASGCHYGVLTCGSCKVFFKRAMEGQHN
YLCAGRNDCIVDKIRRKNCPACRLRKCCQAGMVLGGRKFKKFNKVRVVRALDAVALPQPVGVPNESQALSQRFTF
SPGQDIQLIPPLINLLMSIEPDVIYAGHDNTKPDTSSSLLTSLNQLGERQLLSVVKWSKSLPGFRNLHIDDQITL
IQYSWMSLMVFGLGWRSYKHVSGQMLYFAPDLILNEQRMKESSFYSLCLTMWQIPQEFVKLQVSQEEFLCMKVLL
LLNTIPLEGLRSQTQFEEMRSSYIRELIKAIGLRQKGVVSSSQRFYQLTKLLDNLHDLVKQLHLYCLNTFIQSRA
LSVEFPEMMSEVIAAQLPKILAGMVKPLLFHKK
Structural information
Protein Domains
 NR (679-913)
Interpro:  IPR035500  IPR000536  IPR001723  IPR000128  IPR001628  
IPR013088  
Prosite:   PS51843 PS00031 PS51030

PDB:  		 1A28 1E3K 1SQN 1SR7 1ZUC 2C7A 2OVH 2OVM 2W8Y 3D90 3G8O 3HQ5 3KBA 3ZR7 3ZRA 3ZRB 4A2J 4APU 4OAR 5CC0
PDBsum:   1A28 1E3K 1SQN 1SR7 1ZUC 2C7A 2OVH 2OVM 2W8Y 3D90 3G8O 3HQ5 3KBA 3ZR7 3ZRA 3ZRB 4A2J 4APU 4OAR 5CC0

DIP:  
5967
MINT:  
STRING:   ENSP00000325120
Other Databases GeneCards:  PGR  Malacards:  PGR

Gene ontology

Expand All | Collapse All
GO accessionTerm nameEvidence codeGo category
GO:0000978 RNA polymerase II core pr
omoter proximal region se
quence-specific DNA bindi
ng
 IDA molecular function
GO:0001077 transcriptional activator
activity, RNA polymerase
II core promoter proxima
l region sequence-specifi
c binding
 IDA molecular function
GO:0003677 DNA binding
 TAS molecular function
GO:0003707 steroid hormone receptor
activity
 IEA molecular function
GO:0005102 receptor binding
 IPI molecular function
GO:0005496 steroid binding
 IEA molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005654 nucleoplasm
 TAS cellular component
GO:0005654 nucleoplasm
 TAS cellular component
GO:0005741 mitochondrial outer membr
ane
 IEA cellular component
GO:0006367 transcription initiation
from RNA polymerase II pr
omoter
 TAS biological process
GO:0007165 signal transduction
 TAS biological process
GO:0007267 cell-cell signaling
 TAS biological process
GO:0008270 zinc ion binding
 IEA molecular function
GO:0010629 negative regulation of ge
ne expression
 IEP biological process
GO:0019899 enzyme binding
 IPI molecular function
GO:0043401 steroid hormone mediated
signaling pathway
 IEA biological process
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
 IDA biological process
GO:0051117 ATPase binding
 IDA molecular function
GO:0000978 RNA polymerase II core pr
omoter proximal region se
quence-specific DNA bindi
ng
 IDA molecular function
GO:0001077 transcriptional activator
activity, RNA polymerase
II core promoter proxima
l region sequence-specifi
c binding
 IDA molecular function
GO:0003677 DNA binding
 IEA molecular function
GO:0003677 DNA binding
 IEA molecular function
GO:0003677 DNA binding
 TAS molecular function
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
 IEA molecular function
GO:0003707 steroid hormone receptor
activity
 IEA molecular function
GO:0003707 steroid hormone receptor
activity
 TAS molecular function
GO:0005102 receptor binding
 IPI molecular function
GO:0005496 steroid binding
 IEA molecular function
GO:0005496 steroid binding
 IEA molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005634 nucleus
 IEA cellular component
GO:0005634 nucleus
 IEA cellular component
GO:0005634 nucleus
 IEA cellular component
GO:0005654 nucleoplasm
 TAS cellular component
GO:0005654 nucleoplasm
 TAS cellular component
GO:0005737 cytoplasm
 IEA cellular component
GO:0005737 cytoplasm
 IEA cellular component
GO:0005739 mitochondrion
 IEA cellular component
GO:0005741 mitochondrial outer membr
ane
 IEA cellular component
GO:0005741 mitochondrial outer membr
ane
 IEA cellular component
GO:0006351 transcription, DNA-templa
ted
 IEA biological process
GO:0006355 regulation of transcripti
on, DNA-templated
 IEA biological process
GO:0006355 regulation of transcripti
on, DNA-templated
 IEA biological process
GO:0006367 transcription initiation
from RNA polymerase II pr
omoter
 TAS biological process
GO:0007165 signal transduction
 TAS biological process
GO:0007267 cell-cell signaling
 TAS biological process
GO:0008270 zinc ion binding
 IEA molecular function
GO:0008289 lipid binding
 IEA molecular function
GO:0010629 negative regulation of ge
ne expression
 IEP biological process
GO:0016020 membrane
 IEA cellular component
GO:0019899 enzyme binding
 IPI molecular function
GO:0043401 steroid hormone mediated
signaling pathway
 IEA biological process
GO:0043565 sequence-specific DNA bin
ding
 IEA molecular function
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
 IDA biological process
GO:0046872 metal ion binding
 IEA molecular function
GO:0051117 ATPase binding
 IDA molecular function
GO:0000978 RNA polymerase II core pr
omoter proximal region se
quence-specific DNA bindi
ng
 IDA molecular function
GO:0001077 transcriptional activator
activity, RNA polymerase
II core promoter proxima
l region sequence-specifi
c binding
 IDA molecular function
GO:0003677 DNA binding
 TAS molecular function
GO:0003707 steroid hormone receptor
activity
 TAS molecular function
GO:0005102 receptor binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005654 nucleoplasm
 TAS cellular component
GO:0005654 nucleoplasm
 TAS cellular component
GO:0006367 transcription initiation
from RNA polymerase II pr
omoter
 TAS biological process
GO:0007165 signal transduction
 TAS biological process
GO:0007267 cell-cell signaling
 TAS biological process
GO:0010629 negative regulation of ge
ne expression
 IEP biological process
GO:0019899 enzyme binding
 IPI molecular function
GO:0045944 positive regulation of tr
anscription from RNA poly
merase II promoter
 IDA biological process
GO:0051117 ATPase binding
 IDA molecular function

KEGG pathways

Expand All | Collapse All

Pathway idPathway name
hsa04114Oocyte meiosis
hsa04915Estrogen signaling pathway
hsa04914Progesterone-mediated oocyte maturation
hsa05224Breast cancer

Diseases

Expand All | Collapse All
Associated diseases References
Cancer GAD: 11323389
Cancer (bladder) GAD: 19692168
Cancer (breast) GAD: 11668223
Cancer (colorectal) GAD: 18510611
Cancer (endometrial) GAD: 15598772
Cancer (epithelial ovarian) GAD: 19064572
Cancer (esophageal) GAD: 20453000
Cancer (leiomyoma) GAD: 18691687
Cancer (lung) GAD: 18676680
Cancer (lymphoma) GAD: 18636124
Cancer (ovarian) GAD: 7796397
Cancer (prostate) GAD: 15330195
Cancer (breast) GAD: 9155067
Aortic aneurysm GAD: 15698546
Hypertension GAD: 19696694
Venous thromboembolism GAD: 19782484
Rheumatoid arthritis GAD: 19555469
Obesity GAD: 14557830
Osteoporosis GAD: 12127038
Migraine disorder GAD: 15654614
Vertigo GAD: 17609999
Panic disorder GAD: 15219637
Chronic renal failure GAD: 21085059
Abortion GAD: 20090851
Erectile dysfunction GAD: 21093858
Pregnancy loss GAD: 19152063
Recurrent pregnancy loss (RPL) GAD: 15036714
Preterm birth risk GAD: 18722616
Adenomyosis INFBASE: 21444077
Rectosigmoid endometriosis INFBASE: 25217304
Menstrual disorders INFBASE: 17505942
Recurrent early pregnancy INFBASE: 11208405
Endometriosis INFBASE: 26268409
Female infertility INFBASE: 7720943
Endometriosis INFBASE: 26037298
Good quality MII oocytes INFBASE: 24041818
Recurrent implantation�failure�(RIF) INFBASE: 18392676
Impaired endometrial receptivity INFBASE: 21505981
Impaired endometrial receptivity INFBASE: 20193421
Miscarriage INFBASE: 19152063
Polycystic ovary syndrome (PCOS) INFBASE: 10682427
Peritoneal, ovarian, and deeply infiltrating endometriosis INFBASE: 16500320
Ovarian hyperstimulation syndrome (OHSS) INFBASE: 3020737
Unexplained infertility INFBASE: 24757403
Uterine receptivity in the window of implantation INFBASE: 8774273
Asthenozoospermia MIK: 12297552
Azoospermia MIK: 25653674
Sperm anomaly MIK: 1426326
Oligoasthenozoospermia MIK: 12297552
Teratozoospermia MIK: 12297552
Luteal phase defect MIK: 8579761
Normosmic hypogonadotropic hypogonadism MIK: 16423815
Male factor infertility MIK: 9459087
Male factor infertility MIK: 18082732
Sertoli cell only syndrome (SCOS) MIK: 18082732
Sertoli cell only syndrome (SCOS) MIK: 18835831
Varicocele MIK: 20946440
Maturation arrest MIK: 18835831
Oligozoospermia MIK: 12297552
Spermatogenesis defects MIK: 18082732
Obstructive azoospermia MIK: 18835831
Progesterone resistance OMIM: 607311
Cryptozoospermia MIK: 23490166
Deep infiltrating endometriosis INFBASE: 16920727
Delayed implantation INFBASE: 21505981
Endometriosis INFBASE: 21269613
Chronic obstructive pulmonary disease (COPD) GAD: 19625176
Connective tissue diseases GAD: 19527514
Proteinuria GAD: 15698546
Uterine fibroids GAD: 15807882
Cryptozoospermia MIK: 23490166
Female infertility MIK: 7720943
luteal phase defect (LPD) MIK: 8579761
Male infertility MIK: 9459087
Spermatogenic defects MIK: 18082732
Sertoli- cell only syndrome MIK: 18082732
Normosmic hypogonadotropic�hypogonadism MIK: 16423815
Obstructive�azoospermia�(OA) MIK: 18835831
Maturation arrest (MA) MIK: 18835831
Sertoli�cell-only (SCO) MIK: 18835831
Oligozoospermia MIK: 12297552
Asthenozoospermia MIK: 12297552
Oligoasthenozoospermia MIK: 12297552
Teratozoospermia MIK: 12297552
Unexplained infertility MIK: 25753583
Varicocele MIK: 20946440

PubMed references

Expand All | Collapse All
PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
7720943 Female inf
ertility
29 infertile pa
tients
 Male infertility
Show abstract
18082732 Male infer
tility, Sp
ermatogeni
c failure,
Sertoli-
cell only
syndrome
34 azoospermic
men
 Male infertility GnRH-I
GnRH-II
GnRH-R
CYP11A1
HSD3B2
 Show abstract
16423815 Normosmic
hypogonado
tropic�hyp
ogonadism
 KAL1 ((del1956C) in exon 12, 191 (Arg191X)) Brazili
an
 17 (12 Kallmann
syndrome (KS),
5 normosmic hy
pogonadotropic
hypogonadism (n
HH) )
 Male infertility KAL-1
NELF and EBF2
 Show abstract
20946440 Varicocele

Male infertility
Show abstract
23934021 Male infer
tility
 rs3740753, rs1042838, rs104283, rs2020880

Male infertility
Show abstract
23490166 Cryptozoos
permia
17 patients wit
h cryptozoosper
mia
 Male infertility
Show abstract
18835831 Obstructiv
e�azoosper
mia�(OA),
maturation
arrest (M
A), and Se
rtoli�cell
-only (SCO
)
28 (10 patients
with OA, 10 pa
tients with MA
(either early o
r late arrest),
and 8 patients
with SCO)
 Male infertility Eralpha
PR
 Show abstract
18681990 Male infer
tility
18 infertile me
n
 Male infertility
Show abstract
12297552 Oligozoosp
ermia, ast
henozoospe
rmia, olig
oasthenozo
ospermia,
and terato
zoospermia
55 (Normozoospe
rmia (n = 12),
oligozoospermia
(n = 12), asth
enozoospermia (
n = 12), oligoa
sthenozoospermi
a (n = 9), and
teratozoospermi
a (n = 10))
 Male infertility
Show abstract
1426326 Sperm�anom
aly, Male
infertilit
y
8 patient�sperm
�samples with n
ormal spermiogr
am values
 Male infertility
Show abstract
1426326 Sperm anom
aly, Male
infertilit
y
Patients with m
ale factor infe
rtility
 Male infertility
Show abstract
9459087 Male infer
tility
20 (8 cases of
fertile couples
, 12 cases of i
nfertile cases
( 3 with normoz
oospermia, 2 wi
th oligozoosper
mia, 1 with ast
henozoospermia,
and 2 with ter
atozoospermia,
1 with normozoo
spermia, 1 with
asthenozoosper
mia, and 2 with
oligoasthenozo
ospermia ))
 Male infertility ER
PR
 Show abstract
8579761 luteal pha
se defect
(LPD)

Male infertility PR
 Show abstract
17327269 Teratozoos
permia
13 (5 controls,
8 cases)
 Male infertility GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
 Show abstract
17327269 Teratozoos
permia
19 (6 controls
, 13 cases)
 Male infertility GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
 Show abstract
25753583 Unexplaine
d infertil
ity
46 (17 fertile
men, 29 male pa
tients)
 Male infertility Microarray
 Show abstract