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Gene id 2492
Gene Summary     SNPs    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed    

Gene Summary
Gene Symbol FSHR   Gene   UCSC   Ensembl
Aliases FSHR1, FSHRO, LGR1, ODG1
Gene name follicle stimulating hormone receptor
Alternate names follicle-stimulating hormone receptor, FSH receptor, follitropin receptor,
Gene location 2p16.3 (49154526: 48953160)     Exons: 14     NC_000002.12
Gene summary(Entrez) The protein encoded by this gene belongs to family 1 of G-protein coupled receptors. It is the receptor for follicle stimulating hormone and functions in gonad development. Mutations in this gene cause ovarian dysgenesis type 1, and also ovarian hyperstim
OMIM 136435

SNPs
rs1394205

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

NC_000002.12   g.49154446C>G
NC_000002.12   g.49154446C>T
NC_000002.11   g.49381585C>G
NC_000002.11   g.49381585C>T
NG_008146.1   g.5046G>C
NG_008146.1   g.5046G>A
NM_000145.4   c.-29G>C
NM_000145.4   c.-29G>A
NM_000145.3   c.-29G>C
NM_000145.3   c.-29G>A
NM_181446.3   c.

rs6166

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

NC_000002.12   g.48962782C>T
NC_000002.11   g.49189921C>T
NG_008146.1   g.196710G>A
NM_000145.4   c.2039G>A
NM_000145.3   c.2039G>A
NM_181446.3   c.1961G>A
NM_181446.2   c.1961G>A
XM_011532736.2   c.1247G>A
XM_011532734.2   c.1808G>A
XM_011532733.2   c.2141G>A
XM_011532  

rs6165

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

NC_000002.12   g.48963902C>A
NC_000002.12   g.48963902C>G
NC_000002.12   g.48963902C>T
NC_000002.11   g.49191041C>A
NC_000002.11   g.49191041C>G
NC_000002.11   g.49191041C>T
NG_008146.1   g.195590G>T
NG_008146.1   g.195590G>C
NG_008146.1   g.195590G>A
NM_000145.4   c.91

rs369191560

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

NC_000002.12   g.48982976C>A
NC_000002.12   g.48982976C>T
NC_000002.11   g.49210115C>A
NC_000002.11   g.49210115C>T
NG_008146.1   g.176516G>T
NG_008146.1   g.176516G>A
NM_000145.4   c.604G>T
NM_000145.4   c.604G>A
NM_000145.3   c.604G>T
NM_000145.3   c.604G>A
NM_181446.  

rs147685926

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

NC_000002.12   g.48963865T>C
NC_000002.11   g.49191004T>C
NG_008146.1   g.195627A>G
NM_000145.4   c.956A>G
NM_000145.3   c.956A>G
NM_181446.3   c.878A>G
NM_181446.2   c.878A>G
XM_011532736.2   c.164A>G
XM_011532734.2   c.725A>G
XM_011532733.2   c.1058A>G
XM_011532735.2  

Protein Summary
Protein general information P23945  

Name: Follicle stimulating hormone receptor (FSH R) (Follitropin receptor)

Length: 695  Mass: 78,265

Tissue specificity: Ubiquitous. Expressed at high levels in testis.

Sequence MALLLVSLLAFLSLGSGCHHRICHCSNRVFLCQESKVTEIPSDLPRNAIELRFVLTKLRVIQKGAFSGFGDLEKI
EISQNDVLEVIEADVFSNLPKLHEIRIEKANNLLYINPEAFQNLPNLQYLLISNTGIKHLPDVHKIHSLQKVLLD
IQDNINIHTIERNSFVGLSFESVILWLNKNGIQEIHNCAFNGTQLDELNLSDNNNLEELPNDVFHGASGPVILDI
SRTRIHSLPSYGLENLKKLRARSTYNLKKLPTLEKLVALMEASLTYPSHCCAFANWRRQISELHPICNKSILRQE
VDYMTQARGQRSSLAEDNESSYSRGFDMTYTEFDYDLCNEVVDVTCSPKPDAFNPCEDIMGYNILRVLIWFISIL
AITGNIIVLVILTTSQYKLTVPRFLMCNLAFADLCIGIYLLLIASVDIHTKSQYHNYAIDWQTGAGCDAAGFFTV
FASELSVYTLTAITLERWHTITHAMQLDCKVQLRHAASVMVMGWIFAFAAALFPIFGISSYMKVSICLPMDIDSP
LSQLYVMSLLVLNVLAFVVICGCYIHIYLTVRNPNIVSSSSDTRIAKRMAMLIFTDFLCMAPISFFAISASLKVP
LITVSKAKILLVLFHPINSCANPFLYAIFTKNFRRDFFILLSKCGCYEMQAQIYRTETSSTVHNTHPRNGHCSSA
PRVTNGSTYILVPLSHLAQN
Structural information
Protein Domains
 LRRNT. (18-46)
Interpro:  IPR002272  IPR024635  IPR000276  IPR017452  IPR002131  
IPR026906  IPR000372  IPR034298  
Prosite:   PS00237 PS50262

PDB:  		 1XUN 1XWD 4AY9 4MQW
PDBsum:   1XUN 1XWD 4AY9 4MQW

DIP:  
35605
MINT:  
STRING:   ENSP00000384708
Other Databases GeneCards:  FSHR  Malacards:  FSHR

Gene ontology

Expand All | Collapse All
GO accessionTerm nameEvidence codeGo category
GO:0001545 primary ovarian follicle
growth
 IBA biological process
GO:0004963 follicle-stimulating horm
one receptor activity
 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:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005887 integral component of pla
sma membrane
 IBA cellular component
GO:0007186 G-protein coupled recepto
r signaling pathway
 TAS biological process
GO:0007189 adenylate cyclase-activat
ing G-protein coupled rec
eptor signaling pathway
 IBA biological process
GO:0007190 activation of adenylate c
yclase activity
 IBA biological process
GO:0007283 spermatogenesis
 TAS biological process
GO:0007292 female gamete generation
 TAS biological process
GO:0008406 gonad development
 TAS biological process
GO:0008528 G-protein coupled peptide
receptor activity
 IBA molecular function
GO:0008584 male gonad development
 IEP biological process
GO:0008585 female gonad development
 TAS biological process
GO:0009755 hormone-mediated signalin
g pathway
 IBA biological process
GO:0010738 regulation of protein kin
ase A signaling
 IMP biological process
GO:0014068 positive regulation of ph
osphatidylinositol 3-kina
se signaling
 IMP biological process
GO:0016021 integral component of mem
brane
 TAS cellular component
GO:0042699 follicle-stimulating horm
one signaling pathway
 IEA biological process
GO:0045670 regulation of osteoclast
differentiation
 IBA biological process
GO:0070374 positive regulation of ER
K1 and ERK2 cascade
 IDA biological process
GO:0001545 primary ovarian follicle
growth
 IBA biological process
GO:0004871 signal transducer activit
y
 IEA molecular function
GO:0004930 G-protein coupled recepto
r activity
 IEA molecular function
GO:0004930 G-protein coupled recepto
r activity
 IEA molecular function
GO:0004963 follicle-stimulating horm
one receptor activity
 IEA molecular function
GO:0004963 follicle-stimulating horm
one receptor activity
 TAS molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005886 plasma membrane
 IEA cellular component
GO:0005886 plasma membrane
 IEA cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005887 integral component of pla
sma membrane
 IBA cellular component
GO:0007165 signal transduction
 IEA biological process
GO:0007186 G-protein coupled recepto
r signaling pathway
 IEA biological process
GO:0007186 G-protein coupled recepto
r signaling pathway
 IEA biological process
GO:0007186 G-protein coupled recepto
r signaling pathway
 TAS biological process
GO:0007189 adenylate cyclase-activat
ing G-protein coupled rec
eptor signaling pathway
 IBA biological process
GO:0007190 activation of adenylate c
yclase activity
 IBA biological process
GO:0007283 spermatogenesis
 TAS biological process
GO:0007292 female gamete generation
 TAS biological process
GO:0008406 gonad development
 TAS biological process
GO:0008528 G-protein coupled peptide
receptor activity
 IBA molecular function
GO:0008584 male gonad development
 IEP biological process
GO:0008585 female gonad development
 TAS biological process
GO:0009755 hormone-mediated signalin
g pathway
 IBA biological process
GO:0010738 regulation of protein kin
ase A signaling
 IMP biological process
GO:0014068 positive regulation of ph
osphatidylinositol 3-kina
se signaling
 IMP biological process
GO:0016020 membrane
 IEA cellular component
GO:0016021 integral component of mem
brane
 IEA cellular component
GO:0016021 integral component of mem
brane
 IEA cellular component
GO:0016021 integral component of mem
brane
 TAS cellular component
GO:0016500 protein-hormone receptor
activity
 IEA molecular function
GO:0042699 follicle-stimulating horm
one signaling pathway
 IEA biological process
GO:0045670 regulation of osteoclast
differentiation
 IBA biological process
GO:0070374 positive regulation of ER
K1 and ERK2 cascade
 IDA biological process
GO:0001545 primary ovarian follicle
growth
 IBA biological process
GO:0004963 follicle-stimulating horm
one receptor activity
 TAS molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005515 protein binding
 IPI molecular function
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005886 plasma membrane
 TAS cellular component
GO:0005887 integral component of pla
sma membrane
 IBA cellular component
GO:0007186 G-protein coupled recepto
r signaling pathway
 TAS biological process
GO:0007189 adenylate cyclase-activat
ing G-protein coupled rec
eptor signaling pathway
 IBA biological process
GO:0007190 activation of adenylate c
yclase activity
 IBA biological process
GO:0007283 spermatogenesis
 TAS biological process
GO:0007292 female gamete generation
 TAS biological process
GO:0008406 gonad development
 TAS biological process
GO:0008528 G-protein coupled peptide
receptor activity
 IBA molecular function
GO:0008584 male gonad development
 IEP biological process
GO:0008585 female gonad development
 TAS biological process
GO:0009755 hormone-mediated signalin
g pathway
 IBA biological process
GO:0010738 regulation of protein kin
ase A signaling
 IMP biological process
GO:0014068 positive regulation of ph
osphatidylinositol 3-kina
se signaling
 IMP biological process
GO:0016021 integral component of mem
brane
 TAS cellular component
GO:0045670 regulation of osteoclast
differentiation
 IBA biological process
GO:0070374 positive regulation of ER
K1 and ERK2 cascade
 IDA biological process

KEGG pathways

Expand All | Collapse All

Pathway idPathway name
hsa04024cAMP signaling pathway
hsa04080Neuroactive ligand-receptor interaction
hsa04913Ovarian steroidogenesis

Diseases

Expand All | Collapse All
Associated diseases References
Cancer (ovarian) GAD: 16574671
Cancer (prostate) GAD: 19574343
Cancer GAD: 19458022
Cancer (breast) GAD: 20634197
Hypertension GAD: 16864747
Hyperandrogenism GAD: 19403562
Systemic lupus erythematosus (SLE) GAD: 19165918
Obesity GAD: 20734064
Bone diseases GAD: 20335500
Migraine disorder GAD: 19093296
Alzheimer's disease GAD: 19141999
Abortion GAD: 20716560
Amenorrhoea GAD: 20237833
Asthenozoospermia GAD: 19032691
Erectile dysfunction GAD: 20932654
Polycystic ovary syndrome (PCOS) GAD: 19403562
Normogonadotropic anovulatory infertility GAD: 14556822
Oligozoospermia GAD: 19032691
Preeclampsia GAD: 20646572
46,XX gonadal dysgenesis INFBASE: 9696229
Anovulation INFBASE: 14556822
Antral follicle morphology INFBASE: 25403644
Poor ovarian reserve (PR) INFBASE: 26730247
Premature ovarian insufficiency (POI) INFBASE: 26291798
Poor ovarian response (POR) INFBASE: 21474127
Premature ovarian insufficiency (POI) INFBASE: 11889179
Poor ovarian response (POR) INFBASE: 23953588
Female infertility INFBASE: 26481502
Endometriosis INFBASE: 25502184
Female infertility INFBASE: 21063764
Primary amenorrhea INFBASE: 25581598
Female subfertility INFBASE: 16199427
Secondary amennorhea INFBASE: 9769327
Primary amenorrhea INFBASE: 12915623
Primary and secondary amenorrhea with hypergonadotropic hypogonadism INFBASE: 20237833
Polycystic ovary syndrome (PCOS) INFBASE: 25179311
Polycystic ovary syndrome (PCOS) INFBASE: 25303487
Ovarian dysgenesis INFBASE: 8855829
Female infertility INFBASE: 25649397
Polycystic ovary syndrome (PCOS) INFBASE: 11163840
Ovarian hyperstimulation syndrome (OHSS) INFBASE: 18159088
Premature ovarian failure (POF) INFBASE: 11163840
Ovarian reserve INFBASE: 25322982
MRKH syndrome (congenital uterus and vaginal aplasia) INFBASE: 19101883
Unexplained infertility INFBASE: 9314906
XX gonadal dysgenesis INFBASE: 17826728
Premature ovarian failure (POF) KEGG: H00627, INFBASE: 7641904
Azoospermia MIK: 16338864
Male factor infertility MIK: 16213843
Male factor infertility MIK: 15955888
Oligoasthenoteratozoospermia MIK: 22414334
Male factor infertility MIK: 18958355
Non obstructive azoospermia MIK: 21334319
Semen quality MIK: 23013557
Spermatogenesis defects MIK: 8636335
Oligozoospermia MIK: 16213843
Spermatogenesis defects MIK: 24451955
Spermatogenesis defects MIK: 9020851
Male factor infertility MIK: 8636335
Spermatogenesis defects MIK: 18958355
Oligozoospermia MIK: 22421444
Ovarian dysgenesis OMIM: 136435
Hypoplastic ovary INFBASE: 20514429
Diminished ovarian reserve (DOR) INFBASE: 9314906
Anovulation INFBASE: 25179311
Congenital adrenal hyperplasia KEGG: H00216
Cryptorchidism MIK: 2868600
Diminished ovarian reserve (DOR) INFBASE: 19031050
Good quality MII oocytes INFBASE: 24041818
Hypergonadotropic hypogonadism INFBASE: 12571157
Azoospermia MIK: 24451955
Spermatogenic defects MIK: 14680821
Female fertility MIK: 21063764
Azoospermia MIK: 24451955
Spermatogenic dysfunction and infertility MIK: 18958355
Male infertility MIK: 16213843
Oligoasthenoteratozoospermia MIK: 22414334
Male infertility MIK: 9020851
Impaired spermatogenesis MIK: 9020851
Male reproductive physiology MIK: 23413141
Nonobstructive azoospermia MIK: 21334319
Semen quality MIK: 23013557
Absence of gonadotropins MIK: 8636335

PubMed references

Expand All | Collapse All
PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
16213843 Azoospermi
a, Oligozo
ospermia
 ESR1 g.938T>C, FSHR Ser680Asn, ESR2 *39A>G, CYP19A1 *19C>T, and NRIP1 Gly75Gly polymorphism Spanish
 199 (104 men wi
th azoospermia
or severe oligo
zoospermia, 95
healthy control
s)
 Male infertility ESR1
FSHR
ESR2
CYP19A1
NRIP1
 Show abstract
23013557 Semen qual
ity, Male
infertilit
y
 AR allele-Ala307Ala/Ser680Ser, AR allele-Thr307Thr/Asn680Asn, AR allele-Ala307Ala/Ser680Ser, FSHRThr307/Asn680, FSHRAla307/Ser680
450 (200 oligoz
oospermic, 250
normozoospermic
men)
 Male infertility FSHR
AR
 Show abstract
16213843 Male idiop
athic infe
rtility
 ESR1 g.938T>C, FSHR Ser680Asn, ESR2 *39A>G, CYP19A1*19C>T, and NRIP1 Gly75Gly polymorphism Spanish
 199 (104 with a
zoospermia or s
evere oligozoos
permia, 95 unse
lected race-mat
ched healthy co
ntrols)
 Male infertility ESR1
FSHR
ESR2
 CYP19A1
and NRIP1
 Show abstract
2868600 Cryptorchi
dism

Male infertility
Show abstract
21063764 Female fer
tility
 FSHR T307A and N680S
51 fertile wome
n
 Male infertility
Show abstract
26125757 Male infer
tility
 Thr307Ala, Asn680Ser 
376 (212 infert
ile, 164 fertil
e men)
 Male infertility
Show abstract
19032691 Male infer
tility
 Caucasi
an
 82 (30 normozoo
spermic healthy
controls, 52
oligoasthenozoo
spermic (OAT) m
ales)
 Male infertility FSHR
AMH
 Show abstract
24451955 Idiopathic
azoosperm
ia, sperma
togenic de
fects
70 (57 cases of
idiopathic azo
ospermia were c
lassified into
three groups ac
cording to the
results of test
icular biopsy:
patients with h
ypospermatogene
sis, patients w
ith maturation
arrest, and pat
ients with Sert
oli cell-only s
yndrome, 13 azo
ospermic patien
 Male infertility
Show abstract
22421444 Nonobstruc
tive azoos
permia, se
vere oligo
zoospermia
, male inf
ertility
 FSHR (A307T and N680S) 
355 (138 infert
ile men (53 non
obstructive azo
ospermia, 85 se
vere oligozoosp
ermia), 217 fer
tile men as con
trols)
 Male infertility
Show abstract
22414334 Male infer
tility, az
oospermia,
oligoasth
enoteratoz
oospermia
(OAT)
 FSHR G-29A (rs1394205), 919A>G (Thr(307)Ala, rs6165), 2039A>G (Asn(680)Ser, rs6166)
3392 (1644 male
infertility ca
ses, 1748 contr
ols)
 Male infertility
Show abstract
21334319 Nonobstruc
tive azoos
permia, ol
igozoosper
mia, male
infertilit
y
 FSHR ( -29 and codons 307 and 680) Han-Chi
nese
 645 (364 idiopa
thic infertile
patients (97 no
nobstructive az
oospermic, 79 o
ligozoospermic
and 188 normozo
ospermic) and 2
81 fertile cont
rols)
 Male infertility
Show abstract
21105990 Male infer
tility
 FSHR (Thr(307)-Asn(680) and Ala(307)-Ser(680) polymorphisms)
344 (172 infert
ile men, 172 fe
rtile controls)
 Male infertility
Show abstract
20454649 Male infer
tility
 FSHR (-29 in the core promoter region and codon 680 in exon 10) Turkey
 510 ( 240 men w
ith proven fath
ers, 270 infert
ile men (150 no
nobstructive az
oospermic and 1
20 severe oligo
zoospermic))
 Male infertility
Show abstract
20170288 Male infer
tility
 FSHR (G-29A, A919G, and A2039G polymorphisms) Estonia
n
 358 (150 (36 no
n-obstructive a
zoospermia and
114 individuals
with oligozoos
permia) patient
s, 208 normozoo
spermic men)
 Male infertility
Show abstract
17169197 Azoospermi
a, Oligozo
opsermia
 FSHR (SNP in exon 10 (codon 307 and 680) and in the core promoter region (at position -29)) Italian
 574 (150 men re
presentative of
the general po
pulation, 107 p
roven fathers,
92 normozoosper
mic controls, a
nd 215 infertil
e patients clas
sified accordin
g to sperm para
meters (38 azoo
spermia, 53 sev
ere oligozoospe
rmia, 48 modera
te oligozoosper
mia, and 76 sli
 Male infertility
Show abstract
15955888 Azoospermi
a
 FSHR (-29, 307)
742 (438 men wi
th nonobstructi
ve azoospermia,
304 controls)
 Male infertility
Show abstract
24718625 Oligozoosp
ermia, Azo
ospermia
 FSHB -211G/T; FSHR -29G/A, c.2039 A/G (Asn680Ser, exon 10), Estonia
ns, Lat
vians,
Lithuan
ians
 1623 (982; Esto
nians, Latvians
, Lithuanians;
aged 20.2 ± 2.0
years, 641, Es
tonians; aged 3
1.5 ± 6.0 years
)
 Male infertility FSHB
FSHR
 Show abstract
23413141 Male repro
ductive ph
ysiology
 FSHR T307A (rs6165), N680S (rs6166) Baltic
male co
hort (E
stonian
s, Latv
ians, L
ithuani
ans)
Male infertility
Show abstract
19550076 Male infer
tility
 FSHR (Thr/Ala (codon 307) and Ser/ Asn (codon 680) )
497 (352 patien
ts with idiopat
hic male infert
ility, 145 men
with proven fer
tility)
 Male infertility FSHR
 Show abstract
18958355 Idiopathic
male infe
rtility, s
permatogen
ic dysfunc
tion and i
nfertility

Male infertility FSHR
 Show abstract
16338864 Azoospermi
a
 FSHR (C566T) Japanes
e
 54 (33 Sertoli
cell-only (SCO)
syndrome, 11 h
ypospermatogene
sis, 10 maturat
ion arrest)
 Male infertility FSHR
 Show abstract
11872202 Male infer
tility
43 infertile pa
tients
 Male infertility FSHR
 Show abstract
11804326 Male infer
tility
 FSHR ((IVS3-4A-->T), (T307A))
70 male inferti
le patients wit
h high FHS leve
ls (> 12 mIU/ml
)
 Male infertility FSHR
 Show abstract
9020851 Male infer
tility, im
paired spe
rmatogenes
is
 566C-->T 

Male infertility FSHR
 Show abstract
8636335 Spermatoge
nesis, Abs
ence of go
nadotropin
s
 FSHR (A-->G base change at nucleotide position 1700, leading to an Asp-->Gly transition in codon 567)
1 hypophysectom
ized man
 Male infertility FSHR
 Show abstract
14680821 Associated
with dela
yed sperma
togenesis

Male infertility
Show abstract
28764642 Male infer
tility
  rs6165, rs6166 Chinese
 595 (255 infert
ile men and 340
fertile contro
ls )
 Male infertility
Show abstract
29738186 Male infer
tility
 Thr307Ala, Asn680Ser
6205 (2 893 mal
e infertility p
atients, 3 312
controls)
 Male infertility
Show abstract
32242295 Spermatoge
nic impair
ment
 c.604 C>T, p.Asp202Asn rs369191560, c.956 T>C, p.Glu319Gly rs147685926 Caucasi
an
 1100 subjects
 Male infertility
Show abstract