Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2492
Gene name	Follicle stimulating hormone receptor
Gene symbol	FSHR
Synonyms (NCBI Gene)	FSHR1FSHROLGR1ODG1
Chromosome	2
Chromosome location	2p16.3
Summary	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

Show/Hide all (18)

SNP ID	Visualize variation	Clinical significance	Consequence
rs6165	C>A,G,T	Drug-response, benign	Coding sequence variant, missense variant, genic downstream transcript variant
rs28928870	G>A,T	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs28928871	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs121909658	G>A	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs121909659	A>G,T	Likely-pathogenic, pathogenic	Intron variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121909660	G>A	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs121909661	C>T	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs121909662	G>A,T	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs121909663	T>C	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs121909664	A>G,T	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs121909665	G>T	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs386833510	G>C	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs386833511	G>A	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs386833512	G>T	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs386833513	G>C	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs386833514	A>C	Likely-pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs386833515	T>A,C	Likely-pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs955385021	A>G	Pathogenic	5 prime UTR variant, initiator codon variant, missense variant, genic upstream transcript variant

Show/Hide all (12)

miRTarBase ID	miRNA	Experiments	Reference
MIRT440611	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440611	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT1005489	hsa-miR-3200-5p	CLIP-seq
MIRT1005490	hsa-miR-4504	CLIP-seq
MIRT1005491	hsa-miR-4539	CLIP-seq
MIRT1005492	hsa-miR-542-3p	CLIP-seq
MIRT1005493	hsa-miR-758	CLIP-seq
MIRT2231551	hsa-miR-31	CLIP-seq
MIRT2231552	hsa-miR-4499	CLIP-seq
MIRT2231553	hsa-miR-4680-3p	CLIP-seq
MIRT2231554	hsa-miR-4696	CLIP-seq
MIRT2231555	hsa-miR-548an	CLIP-seq

Show/Hide all (4)

Transcription factor	Regulation	Reference
E2F1	Unknown	11883315
E2F5	Unknown	11883315
MTA2	Repression	23086931
NR5A1	Unknown	11328853

Show/Hide all (69)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001541	Process	Ovarian follicle development	IEA
GO:0001545	Process	Primary ovarian follicle growth	IEA
GO:0003073	Process	Regulation of systemic arterial blood pressure	IEA
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0004963	Function	Follicle-stimulating hormone receptor activity	IBA
GO:0004963	Function	Follicle-stimulating hormone receptor activity	IDA	24692546
GO:0004963	Function	Follicle-stimulating hormone receptor activity	IEA
GO:0004963	Function	Follicle-stimulating hormone receptor activity	IMP	11847099
GO:0005515	Function	Protein binding	IPI	15196694, 17030088, 20600589
GO:0005768	Component	Endosome	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	11847099
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0007165	Process	Signal transduction	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IDA	24692546
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007188	Process	Adenylate cyclase-modulating G protein-coupled receptor signaling pathway	IEA
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IBA
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IEA
GO:0007193	Process	Adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	IEA
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007283	Process	Spermatogenesis	TAS	9020851
GO:0007286	Process	Spermatid development	IEA
GO:0007292	Process	Female gamete generation	TAS	9020851
GO:0007626	Process	Locomotory behavior	IEA
GO:0008406	Process	Gonad development	TAS	9020851
GO:0008528	Function	G protein-coupled peptide receptor activity	IBA
GO:0008584	Process	Male gonad development	IBA
GO:0008584	Process	Male gonad development	IEP	17848411
GO:0008585	Process	Female gonad development	TAS	7553856
GO:0009725	Process	Response to hormone	IEA
GO:0009755	Process	Hormone-mediated signaling pathway	IBA
GO:0009986	Component	Cell surface	IEA
GO:0009992	Process	Intracellular water homeostasis	IEA
GO:0010640	Process	Regulation of platelet-derived growth factor receptor signaling pathway	IEA
GO:0010738	Process	Regulation of protein kinase A signaling	IMP	24058690
GO:0016020	Component	Membrane	IDA	24692546
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	9020851
GO:0016500	Function	Protein-hormone receptor activity	IEA
GO:0017046	Function	Peptide hormone binding	IEA
GO:0022602	Process	Ovulation cycle process	IEA
GO:0031175	Process	Neuron projection development	IEA
GO:0032350	Process	Regulation of hormone metabolic process	IEA
GO:0033044	Process	Regulation of chromosome organization	IEA
GO:0033146	Process	Regulation of intracellular estrogen receptor signaling pathway	IEA
GO:0033148	Process	Positive regulation of intracellular estrogen receptor signaling pathway	IEA
GO:0035092	Process	Sperm DNA condensation	IEA
GO:0038023	Function	Signaling receptor activity	IEA
GO:0042699	Process	Follicle-stimulating hormone signaling pathway	IBA
GO:0042699	Process	Follicle-stimulating hormone signaling pathway	IDA	24692546
GO:0042699	Process	Follicle-stimulating hormone signaling pathway	IEA
GO:0042699	Process	Follicle-stimulating hormone signaling pathway	IEA
GO:0042699	Process	Follicle-stimulating hormone signaling pathway	IMP	11847099
GO:0043235	Component	Receptor complex	IDA	24692546
GO:0043408	Process	Regulation of MAPK cascade	IEA
GO:0045056	Process	Transcytosis	IEA
GO:0045670	Process	Regulation of osteoclast differentiation	IEA
GO:0045779	Process	Negative regulation of bone resorption	IEA
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP	24058690
GO:0060009	Process	Sertoli cell development	IEA
GO:0060011	Process	Sertoli cell proliferation	IEA
GO:0060065	Process	Uterus development	IEA
GO:0060408	Process	Regulation of acetylcholine metabolic process	IEA
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IDA	24058690
GO:0071372	Process	Cellular response to follicle-stimulating hormone stimulus	IMP	11847099
GO:0071711	Process	Basement membrane organization	IEA

MIM	HGNC	e!Ensembl
136435	3969	ENSG00000170820

P23945

Protein name

Follicle-stimulating hormone receptor (FSH-R) (Follitropin receptor)

Protein function

G protein-coupled receptor for follitropin, the follicle-stimulating hormone (PubMed:11847099, PubMed:24058690, PubMed:24692546). Through cAMP production activates the downstream PI3K-AKT and ERK1/ERK2 signaling pathways (PubMed:24058690). {ECO:

PDB

1XWD , 4AY9 , 4MQW , 8I2G , 8I2H

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01462	LRRNT	17 → 45	Leucine rich repeat N-terminal domain	Family
PF13306	LRR_5	46 → 147	BspA type Leucine rich repeat region (6 copies)	Repeat
PF13306	LRR_5	139 → 257	BspA type Leucine rich repeat region (6 copies)	Repeat
PF12369	GnHR_trans	282 → 349	Gonadotropin hormone receptor transmembrane region	Family
PF00001	7tm_1	379 → 626	7 transmembrane receptor (rhodopsin family)	Family

Tissue specificity

TISSUE SPECIFICITY: Sertoli cells and ovarian granulosa cells.

Sequence

MALLLVSLLAFLSLGSGCHHRICHCSNRVFLCQESKVTEIPSDLPRNAIELRFVLTKLRV
IQKGAFSGFGDLEKIEISQNDVLEVIEADVFSNLPKLHEIRIEKANNLLYINPEAFQNLP
NLQYLLISNTGIKHLPDVHKIHSLQKVLLDIQDNINIHTIERNSFVGLSFESVILWLNKN
GIQEIHNCAFNGTQLDELNLSDNNNLEELPNDVFHGASGPVILDISRTRIHSLPSYGLEN
LKKLRARSTYNLKKLPTLEKLVALMEASLTYPSHCCAFANWRRQISELHPICNKSILRQE
VDYMTQARGQRSSLAEDNESSYSRGFDMTYTEFDYDLCNEVVDVTCSPKPDAFNPCEDIM
GYNILRVLIWFISILAITGNIIVLVILTTSQYKLTVPRFLMCNLAFADLCIGIYLLLIAS
VDIHTKSQYHNYAIDWQTGAGCDAAGFFTVFASELSVYTLTAITLERWHTITHAMQLDCK
VQLRHAASVMVMGWIFAFAAALFPIFGISSYMKVSICLPMDIDSPLSQLYVMSLLVLNVL
AFVVICGCYIHIYLTVRNPNIVSSSSDTRIAKRMAMLIFTDFLCMAPISFFAISASLKVP
LITVSKAKILLVLFHPINSCANPFLYAIFTKNFRRDFFILLSKCGCYEMQAQIYRTETSS
TVHNTHPRNGHCSSAPRVTNGSTYILVPLSHLAQN

Sequence length

695

Interactions

View interactions

	KEGG		Reactome
	cAMP signaling pathway Neuroactive ligand-receptor interaction Hormone signaling Ovarian steroidogenesis		Hormone ligand-binding receptors G alpha (s) signalling events ADORA2B mediated anti-inflammatory cytokines production

156

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Amenorrhea	Pathogenic	rs955385021	RCV000626622
Dizygotic twins	Likely pathogenic	rs1674341013	RCV001250893
Genetic non-acquired premature ovarian failure	Likely pathogenic; Pathogenic	rs2103991776, rs2104211236, rs2103994032, rs2103990288, rs776897994, rs2103990623, rs1411985137	RCV001661779 RCV001663367 RCV001663376 RCV001663382 RCV001663383 RCV001663384 RCV001663385
Hereditary xanthinuria type 1	Likely pathogenic	rs1674341013	RCV005860172
Ovarian dysgenesis 1	Pathogenic; Likely pathogenic	rs121909658, rs121909660, rs121909661, rs121909662, rs386833512, rs386833510, rs386833511, rs386833513, rs386833514, rs386833515, rs1674297842, rs1674323340	RCV000017630 RCV000017632 RCV000017636 RCV000017639 RCV000022553 RCV000049439 RCV000049440 RCV000049441 RCV000049442 RCV000049443 RCV001290304 RCV001290303
Ovarian hyperstimulation syndrome	Pathogenic	rs28928870, rs28928871, rs121909663, rs121909664, rs121909665	RCV000017637 RCV000017638 RCV000017640 RCV000017641 RCV000017642

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
FSHR-related disorder	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	rs551113676, rs147355964, rs200504733, rs75552966, rs111883853, rs768038206, rs6168	RCV004736295 RCV004537610 RCV004735489 RCV004530372 RCV004530373 RCV004543930 RCV004532097
Gonadal dysgenesis	Conflicting classifications of pathogenicity	rs202162496	RCV004698341
Ovarian dysgenesis	Uncertain significance; Likely benign	rs886056151, rs886056148, rs772756688, rs115357990	RCV000284699 RCV000264826 RCV000305208 RCV000264482

Show/Hide Text Mining Associations (71)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenoma	Associate	23042261
Adrenal Gland Neoplasms	Associate	23042261
Adrenocortical Adenoma	Associate	23042261
Amenorrhea	Associate	20237833, 25875778, 26911863, 31830376, 37255590, 39497500
Anovulation	Associate	25179311, 25721191
Aortic Aneurysm Abdominal	Associate	37228156
Arteriovenous Malformations	Associate	37864259
Breast Neoplasms	Associate	25652007
Carcinoma Ovarian Epithelial	Associate	23951246, 33374698, 8546225
Carcinoma Renal Cell	Associate	22129368
Cataract congenital dominant non nuclear	Associate	32724273
Chronic Disease	Associate	25179311
Chronic Kidney Disease Mineral and Bone Disorder	Associate	34670813
Cognitive Dysfunction	Associate	15955888
Connective Tissue Diseases	Associate	22208759
Deafness Sensorineural And Male Infertility	Associate	32724273
Diabetes Mellitus	Associate	25904635
Disorders of Sex Development	Associate	26911863, 35051551
Endometriosis	Associate	19342032, 20817169, 21474127, 23139742, 25935136, 34125754, 34659133
Endometriosis	Inhibit	23139742
Epilepsy Temporal Lobe	Associate	23688201
Erectile Dysfunction	Associate	20932654
Eunuchoidism familial hypogonadotropic	Associate	30829738
Familial Testotoxicosis	Associate	10685529
Follicle stimulating hormone deficiency isolated	Associate	20087398
Genetic Diseases Inborn	Associate	22208759
Gliosarcoma	Inhibit	17316362
Gonadal Dysgenesis	Associate	26438105, 9696229
Gonadal Dysgenesis 46 XX	Associate	26911863
Granulosa Cell Tumor	Associate	11056247, 17316362, 28282971
Hashimoto Disease	Associate	30926877
Heredodegenerative Disorders Nervous System	Associate	22208759
Hypogonadism	Associate	20087398, 20237833, 9696229
Infertility	Associate	14556822, 19342032, 24718625, 25721191, 25935136, 26404793, 31830376, 35305013
Infertility Female	Associate	26404793
Infertility Male	Associate	19550076, 20454649, 32724273
Job Syndrome	Associate	19499413
Kidney Neoplasms	Associate	22129368
Kidney Neoplasms	Stimulate	23688201
Macular Degeneration	Associate	28775256
Menopause Premature	Associate	25875778
Myotonia with Skeletal Abnormalities and Mental Retardation	Associate	22208759
Navajo neurohepatopathy	Associate	25179311
Neoplasm Invasiveness	Stimulate	25554615
Neoplasm Metastasis	Associate	23688201
Neoplasms	Associate	23042261, 23688201, 25554615, 25652007, 27844329, 29097913
Neoplasms Germ Cell and Embryonal	Associate	29179257
Netherton Syndrome	Associate	18321487, 25179311
Non functioning pancreatic endocrine tumor	Associate	23042261
Obesity	Associate	24390680
Osteoporosis	Associate	20335500
Ovarian Diseases	Associate	16758348, 19031050, 25495063, 34346002, 38297261, 8546225
Ovarian Dysgenesis 2	Associate	26291798, 26911863, 9496345
Ovarian Hyperstimulation Syndrome	Associate	18166181, 18321487, 19499413, 24058690, 25495063, 30829738, 35178027, 36882810, 39497500
Ovarian Neoplasms	Associate	10685529, 31212758, 31830376, 32796926, 33374698, 39497500, 8546225
Ovarian Torsion	Associate	25495063
Paroxysmal ventricular fibrillation	Associate	28825151, 30340493
Peritonitis	Associate	20237833
Pheochromocytoma	Associate	23042261
Pituitary Neoplasms	Associate	23042261, 25554615
Polycystic Ovary Syndrome	Associate	11163840, 21792664, 22429116, 23118426, 23536150, 24390680, 25179311, 25303487, 25649397, 25721191, 25904635, 26220222, 26273622, 28547204, 31276164, 36246893, 38008503, 39273163 View all (3 more)
Posterior Leukoencephalopathy Syndrome	Associate	37255590
Primary Ovarian Insufficiency	Associate	15037410, 21269619, 25875778, 26291798, 29157895, 29916099, 31830376, 33036707, 35392972, 36704038, 39497500, 7641904, 9496345, 9696229, 9757892
Prostatic Neoplasms	Associate	23688201
Puberty Delayed	Associate	39497500
Sertoli Cell Only Syndrome	Associate	11872202
Syndrome	Associate	36704038
Testicular Diseases	Associate	33236519
Thyroiditis	Associate	25495063
Turner Syndrome	Associate	37255590
Uterine Cervical Neoplasms	Associate	27844329

FSHR (follicle stimulating hormone receptor)