Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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

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 (37745077: 37686430)     Exons: 11     NC_000017.11
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 gene uses two distinct promotors and translation start sites in the first exon to produce several transcript variants, both protein coding and non-protein coding. Two of the isoforms (A and B) are identical except for an additional 165 amino acids found in the N-terminus of isoform B and mediate their own response genes and physiologic effects with little overlap. [provided by RefSeq, Sep 2015]
OMIM 607311

SNPs

 rs1042839

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000673.2   g.101051471G>A
NC_000011.10   g.101051471G>A
NC_000011.9   g.100922202G>A
NG_016475.1   g.83343C>T
NM_000926.4   c.2310C>T
NM_001202474.3   c.1818C>T
NM_001271161.2   c.1512C>T
NM_001271162.1   c.528C>T
NP_000917.3   p.His770=
NP_001189403.1   p.His606=
NP_001258090.1   p.His504=
NP_001258091.1   p.His176=
NR_073141.2   n.2303C>T
NR_073142.2   n.2186C>T
NR_073143.2   n.1997C>T
XP_006718921.1   p.His770=
rs500760

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000673.2   g.101039260T>C
NC_000011.10   g.101039260T>C
NC_000011.9   g.100909991T>C
NG_016475.1   g.95554A>G
NM_000926.4   c.2658A>G
NM_001202474.3   c.2166A>G
NM_001271161.2   c.1860A>G
NM_001271162.1   c.876A>G
NP_000917.3   p.Gln886=
NP_001189403.1   p.Gln722=
NP_001258090.1   p.Gln620=
NP_001258091.1   p.Gln292=
NR_073141.2   n.2599A>G
NR_073142.2   n.2482A>G
NR_073143.2   n.2214A>G
rs10895068

Strand: -   Allele origin: unknown  Allele change: A/G   Mutation type: snp

NC_000011.9   g.101000214C>T
NC_000011.10   g.101129483C>T
NM_001271161.2   c.-905G>A
NM_001271162.1   c.-201G>A
NG_016475.1   g.5331G>A
NM_000926.4   c.-413G>A
NM_001202474.3   c.-905G>A
NR_073141.2   n.-420G>A
NR_073142.2   n.-420G>A
NR_073143.2   n.-420G>A
NR_073144.1   n.4

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: In reproductive tissues the expression of isoform A and isoform B varies as a consequence of developmental and hormonal status. Isoform A and isoform B are expressed in comparable levels in uterine glandular epithelium during the proli

Sequence MTELKAKGPRAPHVAGGPPSPEVGSPLLCRPAAGPFPGSQTSDTLPEVSAIPISLDGLLFPRPCQGQDPSDEKTQ
DQQSLSDVEGAYSRAEATRGAGGSSSSPPEKDSGLLDSVLDTLLAPSGPGQSQPSPPACEVTSSWCLFGPELPED
PPAAPATQRVLSPLMSRSGCKVGDSSGTAAAHKVLPRGLSPARQLLLPASESPHWSGAPVKPSPQAAAVEVEEED
GSESEESAGPLLKGKPRALGGAAAGGGAAAVPPGAAAGGVALVPKEDSRFSAPRVALVEQDAPMAPGRSPLATTV
MDFIHVPILPLNHALLAARTRQLLEDESYDGGAGAASAFAPPRSSPCASSTPVAVGDFPDCAYPPDAEPKDDAYP
LYSDFQPPALKIKEEEEGAEASARSPRSYLVAGANPAAFPDFPLGPPPPLPPRATPSRPGEAAVTAAPASASVSS
ASSSGSTLECILYKAEGAPPQQGPFAPPPCKAPGASGCLLPRDGLPSTSASAAAAGAAPALYPALGLNGLPQLGY
QAAVLKEGLPQVYPPYLNYLRPDSEASQSPQYSFESLPQKICLICGDEASGCHYGVLTCGSCKVFFKRAMEGQHN
YLCAGRNDCIVDKIRRKNCPACRLRKCCQAGMVLGGRKFKKFNKVRVVRALDAVALPQPVGVPNESQALSQRFTF
SPGQDIQLIPPLINLLMSIEPDVIYAGHDNTKPDTSSSLLTSLNQLGERQLLSVVKWSKSLPGFRNLHIDDQITL
IQYSWMSLMVFGLGWRSYKHVSGQMLYFAPDLILNEQRMKESSFYSLCLTMWQIPQEFVKLQVSQEEFLCMKVLL
LLNTIPLEGLRSQTQFEEMRSSYIRELIKAIGLRQKGVVSSSQRFYQLTKLLDNLHDLVKQLHLYCLNTFIQSRA
LSVEFPEMMSEVIAAQLPKILAGMVKPLLFHKK
Structural information

Motifs
 LXXL motif(55-59)
LXXL motif(115-119)
Nuclear localization(183-187)
Interpro:  IPR000536 IPR001723 IPR000128 IPR001628 IPR013088
Prosite:   PS00031 PS51030

Pfam:  		 PF00104 PF02161 PF00105

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:   1505587
STRING:   ENSP00000325120;
Other Databases GeneCards:  PGR;  Malacards:  PGR

Gene ontology


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

hsa05224  Breast cancer
hsa04914  Progesterone-mediated oocyte maturation
hsa04114  Oocyte meiosis

Diseases

Associated diseases References
Adenomyosis PMID: 21444077
Aortic aneurysm PMID: 15698546
Asthenozoospermia PMID: 25653674
Azoospermia PMID: 18835831
Bowel endometriosis PMID: 16500320
Cancer PMID: 11323389
Chronic obstructive pulmonary disease (COPD) PMID: 19625176
Cryptozoospermia PMID: 23490166
Delayed implantation PMID: 21505981
Endometriosis PMID: 21397694
Female infertility PMID: 11866909
Hyperprolactinemia PMID: 15807882
Impaired receptivity of endometrium PMID: 20193421
Luteal phase defects (LPD) PMID: 3818887
Male infertility PMID: 9459087
Maturation arrest (MA) PMID: 18835831
Miscarriage PMID: 19152063
Obesity PMID: 14557830
Rectosigmoid endometriosis INFBASE25217304
Tubal infertility INFBASE21269613
Ovarian dysfunction INFBASE21269613
Oligoasthenozoospermia PMID: 25653674
Endometriosis associated infertility INFBASE21243274
Ovarian endometriosis INFBASE21232532
Deep infiltrating endometriosis INFBASE18281038
Deep infiltrating endometriosis INFBASE16920727
Peritoneal, ovarian, and deeply infiltrating endometriosis INFBASE16500320
Adenomyosis INFBASE8288201
Oligozoospermia PMID: 12297552
Osteoporosis PMID: 12127038
Ovarian endometriosis PMID: 16500320
Panic disorder PMID: 15219637
Peritoneal endometriosis PMID: 16500320
Polycystic ovary syndrome (PCOS) PMID: 10682427
Preterm delivery PMID: 18722616
Rectosigmoid endometriosis PMID: 25217304
Recurrent early pregnancy PMID: 11208405
Recurrent implantation failure (RIF) PMID: 18392676
Rheumatoid arthritis PMID: 19555469
Sertoli cell-only syndrome (SCOS) PMID: 18835831
Spermatogenetic defects PMID: 1426326
Teratozoospermia PMID: 25653674
Unexplained infertility PMID: 24757403
Varicocele PMID: 20946440

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
26037298 Endometrio
sis
38 (18 reproduc
tive-age women
with surgically
diagnosed endo
metriosis, 20 c
ontrols )
Show abstract
17965625 Endometrio
sis

PR-A
PR-B
 Show abstract
10946900 Endometrio
sis
36 (18 endometr
iotic samples,
18 eutopic endo
metrial samples
)
 PR-A
PR-B
 Show abstract
21269613 Endometrio
sis
41 (18 patients
with stage IV
endometriosis,
)
 ER-alpha
ER-beta
PR-A
PR-B
 Show abstract
24481237 Endometrio
sis
51 (44 endometr
iotic tissues (
39 severe dysme
norrhea, 29 dys
pareunia, 24 in
fertility), 7 m
atched eutopic
endometrium)
 Female infertility ESR1
ESR2
PGR
 Show abstract
22259059 Endometrio
sis


Show abstract
21397694 Endometrio
sis
20 (11 ovarian
endometriosis s
amples, 9 contr
ol endometrium
samples)
 PGR
 Show abstract
16920727 Endometrio
sis
 PR (+331G/A polymorphisms)
307 (72 women w
ith deep infilt
rating endometr
iosis, 40 women
with adenomyos
is in the uteri
ne wall, 102 gy
naecological pa
tients without
symptomatic end
ometriosis, 93
healthy females
)
 PR
 Show abstract
18281038 Endometrio
sis
 PR +331G/A

PR
 Show abstract
24945100 Endometrio
sis
38 women with p
eritoneal endom
etriosis diagno
sed during inve
stigation for s
econdary infert
ility
 Female infertility ERA
PR
PR-B
CRYAB
 Show abstract
20400074 Endometrio
sis
24 (12 normal c
ontrols, 12 pat
ients affected
by moderate to
severe endometr
iosi)
 PROK1
HOXA10
and PR
 Show abstract
20719308 Endometrio
sis
 Australia, Europe, and the United States 6160 (5
812 whi
te fema
le cont
rols, 3
48 had
endomet
riosis)
PR
 Show abstract
15272913 Endometrio
sis
 PR (PROGINS polymorphism) Italian
women
 258 (131 women
affected by end
ometriosis, 127
controls)
 PR
 Show abstract
10605405 Endometrio
sis
24 and 7 endome
triosis cases
 Ki-67
ER
PR
 Show abstract
26268409 Endometrio
sis
 PR (exon 5 region H770H (rs1042839)) Han Chi
nese
 930 (431 EM pat
ients, 499 non-
EM women)
Show abstract
8288201 Endometrio
sis
31 (18 cases of
ovarian endome
triosis, 13 cas
es of adenomyos
is)
 ER
PR
 Show abstract
8513960 Endometrio
sis
31 (18 cases of
ovarian endome
triosis, 13 cas
es of adenomyos
is)
 ER
PR
 Show abstract
16500320 Endometrio
sis (Perit
oneal and
ovarian)
71 (18 peritone
al endometrioti
c lesions, 29 o
varian endometr
iotic lesions,
14 deeply infil
trating endomet
riotic lesions,
5 women with e
ndometriosis, 5
women without
endometriosis)
 CD10
IGFBP-1
PR
 Show abstract
25217304 Endometrio
sis (Recto
sigmoid)
18 consecutive
patients with e
ndometriosis
 HOXA10
ER-A
PR
PR-B
 Show abstract
25155819 Endometrio
sis
54 (28 patients
with endometri
osis, 26 contro
ls)
 Female infertility MUC1
PR-B
 Show abstract
21232532 Endometrio
sis (ovari
an)

PR-AB
HSD17B2
SRD5A2
AKR1C1
AKR1C2
AKR1C3
AKR1D1
 Show abstract
17484509 Endometrio
sis
 CYP17 polymorphism (-34T-->C) Brazil
 402 (121 women
with surgically
confirmed endo
metriosis, 281
controls)
Show abstract
24943061 Endometrio
sis
 PROGINS polymorphism
3321 (1,323 cas
es, 1,998 contr
ols)
Show abstract
21751163 Endometrio
sis
 PROGINS polymorphisms (A1/A1, A1/A2 and A2/A2)
98 (54 patients
with a diagnos
is of endometri
osis, 44 women
without endomet
riosis)
 PROGINS
 Show abstract
11821088 Endometrio
sis
 306-base pair insertion polymorphism in intron G of PROGINS White
 202 (107 white
women without e
ndometriosis, 9
5 women with su
rgically diagno
sed and histolo
gically confirm
ed endometriosi
s)
 PROGINS
 Show abstract
21243274 Endometrio
sis
377 (148 patien
ts with endomet
riosis-associat
ed infertility,
50 idiopathic
infertile patie
nts and 179 fer
tile women as c
ontrols)
 Female infertility
Show abstract