FSHR - follicle stimulating hormone receptor Gene

Also Known as LGR1; ODG1; FSHR1; FSHRO

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2492

About FSHR

Cytogenetic location: 2p16.3 Genomic coordinates (GRCh38): 2:48,962,157-49,154,515 (from NCBI)

This gene has 5 transcripts (splice variants), 200 orthologues, 2 paralogues and is associated with 6 phenotypes. Low expression observed in reference dataset.

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 hyperstimulation syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]

FSHR Products (2)

mRNA	Protein	Name
NM_000145.4	NP_000136.2	follicle-stimulating hormone receptor isoform 1 precursor
NM_181446.3	NP_852111.2	follicle-stimulating hormone receptor isoform 2 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables follicle-stimulating hormone receptor activity	IDA IDA: Inferred from direct assay	24692546	GOA
enables follicle-stimulating hormone receptor activity	IMP IMP: Inferred from mutant phenotype	11847099	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	15196694	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in G protein-coupled receptor signaling pathway	IDA IDA: Inferred from direct assay	24692546	GOA
involved in cellular response to follicle-stimulating hormone stimulus	IMP IMP: Inferred from mutant phenotype	11847099	GOA
involved in follicle-stimulating hormone signaling pathway	IDA IDA: Inferred from direct assay	24692546	GOA
involved in follicle-stimulating hormone signaling pathway	IMP IMP: Inferred from mutant phenotype	11847099	GOA
involved in male gonad development	IEP IEP: Inferred from expression pattern	17848411	GOA
involved in positive regulation of ERK1 and ERK2 cascade	IDA IDA: Inferred from direct assay	24058690	GOA
involved in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP IMP: Inferred from mutant phenotype	24058690	GOA
involved in regulation of protein kinase A signaling	IMP IMP: Inferred from mutant phenotype	24058690	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
located in membrane	IDA IDA: Inferred from direct assay	24692546	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	11847099	GOA
part of receptor complex	IDA IDA: Inferred from direct assay	24692546	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FSHR Protein Structure

LRRNT

LRR_8

GnHR_trans

7tm_1

0
200
400
600
695 a.a.

Protein Preferred Names	Protein Names
follicle-stimulating hormone receptor	FSH receptor

FSHR Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	FSHR	P23945	YWHAQ	Homo sapiens	P27348	Y2H	15196694

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant FSHR Proteins

Art. -Nr.	Produktname	Accession	Reinheit
HY-P72198	FSHR Protein, Human (His)	P23945-1 (C18-R366)	≥ 90%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Ovarian Hyperstimulation Syndrome	OHSS Ovarian Hyperstimulation Syndrome, Familial Gestational Spontaneous Secondary Meig'S Syndrome Ohss - [Ovarian Hyperstimulation Syndrome] Hyperstimulation Of Ovaries Nos Hyperstimulation Of Ovaries Associated With Induced Ovulation
Ovarian Dysgenesis 1	Xx Gonadal Dysgenesis ODG1 Gonadal Dysgenesis, Xx Type Xxgd Ovarian Dysgenesis, Hypergonadotropic, Autosomal Recessive Ovarian Dysgenesis, Hypergonadotropic, With Normal Karyotype Ovarian Failure, Hypergonadotropic Gonadal Dysgenesis Xx Type Hypergonadotropic Ovarian Dysgenesis Autosomal Recessive Hypergonadotropic Ovarian Dysgenesis With Normal Karyotype Hypergonadotropic Ovarian Failure Dysgenesis, Ovarian, Type 1 Gonadal Dysgenesis, 46,Xx Ovarian Failure, Premature
Twinning, Dizygotic	Ovarian Response To Fsh Stimulation
Amenorrhea	Absence Of Menstruation Amenia
Perrault Syndrome 1	PRLTS1 Ovarian Dysgenesis With Sensorineural Deafness Gonadal Dysgenesis Xx Type Deafness Gonadal Dysgenesis, Xx Type, With Deafness Gonadal Dysgenesis Xx Type With Deafness
46,Xx Sex Reversal 1	46,Xx Testicular Disorder Of Sex Development 46,Xx Gonadal Dysgenesis SRXX1 46,Xx Gonadal Dysgenesis, Complete, Sry-Positive 46,Xx Testicular Dsd Xx Male Syndrome 46,Xx Complete Gonadal Dysgenesis 46,Xx Pure Gonadal Dysgenesis Follicular Stimulating Hormone-Resistant Ovaries Hypergonadotropic Ovarian Dysgenesis Ovotesticular Disorder Of Sex Development 46,Xx Sex Reversal, Sry-Positive Xx Male, Sry-Positive 46xx Sex Reversal 1 46, Xx Gonadal Sex Reversal Xx Sex Reversal 46,Xx Ovarian Dysgenesis Fsh-Ro Xx Female Gonadal Dysgenesis Xx-Gd 46,Xx Ovotesticular Disorder Of Sex Development 46,Xx Ovotesticular Dsd De La Chapelle Syndrome Xx, Male Syndrome 46,Xx Gonadal Dysgenesis Complete Sry-Positive 46,Xx Sex Reversal Sry-Positive 46,Xx True Hermaphroditism Sry-Positive Ovotesticular Dsd Xx Male Sry-Positive Ovotesticular Disorders Of Sex Development 46, Xx Testicular Disorders Of Sex Development Resistant Ovary Syndrome Dysgenetic Ovaries Fsh-Ro - [Follicular Stimulating Hormone-Resistant Ovaries] True Hermaphroditism Ovotestis True Hermaphrodite
Genetic Non-Acquired Premature Ovarian Failure
Ovarian Mucinous Cystadenocarcinoma	Mucinous Cystadenocarcinoma Of Ovary
Ovarian Disease	Ovarian Dysfunction Ovarian Diseases Ovarian Disorders Disorder Of Endocrine Ovary
46 Xx Gonadal Dysgenesis	Ovarian Dysgenesis Gonadal Dysgenesis, 46,Xx Dysgenesis, Ovarian
Infertility
Male Infertility	Infertility, Male Infertility Male Male Sterility Absolute Infertility
Precocious Puberty, Male-Limited	Testotoxicosis Familial Male-Limited Precocious Puberty Leydig Cell Adenoma, Somatic, With Precocious Puberty FMPP Familial Testotoxicosis Sexual Precocity, Familial, Gonadotropin-Independent Familial Gonadotropin-Independent Male-Limited Sexual Precocity Male-Limited Precocious Puberty Pubertas Praecox Gonadotropin-Independent Familial Sexual Precocity Testotoxicosis, Familial Precocious Puberty, Male Precocious Puberty, Male Limited Familial Gonadotrophin-Independent Sexual Precocity Gipp Gonadotrophin-Independent Precocious Puberty Precocious Pseudopuberty Familial Male Precocious Puberty Precocious Puberty In Males Puberty, Precocious Precocious Puberty
Polycystic Ovary Syndrome	Polycystic Ovarian Syndrome Pcos Polycystic Ovarian Disease Polycystic Ovaries Stein-Leventhal Syndrome Multicystic Ovaries Polycystic Ovary Sclerocystic Ovaries Sclerocystic Ovary Syndrome Stein-Leventhal Synd. Cystic Disease Of Ovaries Cystic Disease Of Ovary Pco Pcod Sclerocystic Ovarian Degeneration Polycystic Ovary Syndrome, Susceptibility To Pcos - [Polycystic Ovary Syndrome] Polycystic Ovary Nos Pco - [Polycystic Ovary]
Anovulation
Premature Ovarian Failure 1	Ovarian Failure, Premature Fmr1-Related Primary Ovarian Insufficiency Fragile X-Associated Primary Ovarian Insufficiency POF1 Pofx Hypergonadotropic Ovarian Failure, X-Linked Pof Primary Ovarian Insufficiency, Fragile X-Associated Primary Ovarian Insufficiency 1 Ovarian Failure Premature Premature Ovarian Failure, X-Linked Fragile X Premature Ovarian Failure Fmr1-Related Premature Ovarian Failure Familial Premature Ovarian Failure Idiopathic Familial Premature Ovarian Failure Fxpoi X-Linked Hypergonadotropic Ovarian Failure Hypergonadotropic Ovarian Failure X-Linked Poi Premature Ovarian Failure X-Linked Primary Ovarian Insufficiency Premature Ovarian Failure-1 Ovarian Failure, Premature, Type 1 Premature Ovarian Failure, Familial Premature Menopause Primary Hypogonadism Turner Syndrome
Sex Cord-Gonadal Stromal Tumor	Sex Cord-Gonadal Stromal Tumour Sex Cord Stromal Tumour Sex Cord-Stromal Neoplasm Specialized Gonadal Neoplasm Specialized Gonadal Tumor Specialized Gonadal Tumour Sex Cord-Gonadal Stromal Tumors Sex Cord-Stromal Tumor Malignant Testicular Sex Cord-Stromal Tumor Sex Cord Stromal Tumor Of Testis
Gonadal Dysgenesis	Gonadal Dysgenesis Syndrome Turner Syndrome
Leydig Cell Hypoplasia	46,Xy Disorder Of Sex Development Due To Lh Resistance Or Lhb Deficiency 46,Xy Disorder Of Sex Development Due To Luteinizing Hormone Resistance Or Luteinizing Hormone Beta Subunit Deficiency 46,Xy Dsd Due To Lh Resistance Or Lhb Deficiency 46,Xy Dsd Due To Luteinizing Hormone Resistance Or Luteinizing Hormone Beta Subunit Deficiency 46,Xy Disorder Of Sex Development Due To Lh Defects Lh Resistance Due To Lh Receptor Deactivation Leydig Cell Agenesis Male Hypergonadotropic Hypogonadism Due To Lhcgr Defect Male Pseudohermaphroditism Due To Lh Resistance Or Lhb Deficiency Male Pseudohermaphroditism Due To Luteinizing Hormone Resistance Or Luteinizing Hormone Beta Subunit Deficiency Lch Hypoplasia, Leydig Cell
Premature Menopause	Primary Ovarian Insufficiency Premature Ovarian Failure Hypergonadotropic Hypogonadism Premature Ovarian Insufficiency Menopause - Premature Menopause Praecox Menopause Premature Menopause, Premature Female Hypergonadotropic Hypogonadism Hypergonadotrophic Ovarian Failure Primary Female Hypogonadism Pof - [Premature Ovarian Failure] Ovarian Failure Ovarian Secretion Suppression Ovary Hyposecretion Ovary Secretion Deficiency Premature Menopause Nos
Cystadenocarcinoma
Hypothyroidism	Thyroid Diseases Thyroid Disease Thyroid Deficiency Thyroid Insufficiency Dysfunction Thyroid Thyroid Dysfunction
Spermatogenic Failure	Azoospermia Spgf Spermatogenic Failure, Susceptibility To Absent Sperm Aspermatogenesis Infertility Due To Azoospermia Hypospermatogenesis Azoospermatism
Ovarian Serous Cystadenocarcinoma	Serous Cystadenoma Cystadenoma Serous Cystadenoma, Serous
Blepharophimosis
Ovarian Cancer	Ovarian Carcinoma Ovarian Neoplasm Malignant Tumour Of Ovary Cancer Of The Ovary Epithelial Ovarian Cancer Neoplasm Of Ovary Ovarian Neoplasms Ovarian Cancers Malignant Neoplasm Of Ovary Primary Malignant Neoplasm Of Ovary Ovarian Cancer, Somatic Malignant Ovarian Tumor Ovary Neoplasm Primary Ovarian Cancer Tumor Of The Ovary Malignant Neoplasm Of The Ovary Malignant Tumor Of The Ovary Ovarian Malignant Tumor OC Ovarian Carcinomas Cancer, Ovarian Cancer Of Ovary Ovary Cancer Ca Ovary
Endometriosis	Endometriosis, Site Unspecified Endometrial Ectopia
Prostatic Cyst	Cyst Of Prostate
Hypogonadotropic Hypogonadism	Klinefelter Syndrome Klinefelter'S Syndrome Xxy Syndrome Xxy Trisomy Hypogonadotropism 47, Xxy Congenital Idiopathic Hypogonadotropic Hypogonadism Isolated Congenital Gonadotropin Deficiency 47,Xxy Syndrome 47, Xxy Syndrome Klinefelters Syndrome Hypogonadism Klinefelter Syndrome In Males Klinefelter Syndrome, Unspecified Klinefelter Syndrome Karyotype 47, Xxy
Pseudohermaphroditism	Indeterminate Sex And Pseudohermaphroditism
Osteoporosis	Postmenopausal Osteoporosis Osteoporosis, Postmenopausal Bone Mineral Density Quantitative Trait Locus Bmnd Osteoporosis, Involutional Osteoporosis, Susceptibility To Osteoporosis, Postmenopausal, Susceptibility Bone Mineral Density Variation Qtl, Osteoporosis OSTEOP Involutional Osteoporosis Senile Osteoporosis Osteoporosis Postmenopausal Bone Mineral Density, Quantitative Trait Locus Osteoporosis, Senile Idiopathic Osteoporosis Bone Rarefaction Nos Type 1 Osteoporosis
Ovarian Benign Neoplasm	Benign Ovarian Neoplasm
Disorder Of Sexual Development	Disorder Of Sex Development Disorders Of Sex Development Sex Development Disorder Sex Differentiation Disease Dsd Sex Differentiation Disorders
Lipoid Congenital Adrenal Hyperplasia	Congenital Adrenal Hyperplasia Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency Congenital Lipoid Adrenal Hyperplasia Lipoid Cah Lipoid Adrenal Hyperplasia Adrenal Hyperplasia 1 Cah Clah LCAH Adrenal Hyperplasia I Lipoid Hyperplasia, Congenital, Of Adrenal Cortex With Male Pseudohermaphroditism Congenital Adrenal Hyperplasia Lipoid Adrenal Hyperplasia, Congenital Congenital Adrenal Hyperplasia, Lipoid AH1 Congenital Lipoid Hyperplasia Of Adrenal Cortex With Male Pseudohermaphroditism Adrenal Hyperplasia Congenital Hyperplasia, Adrenal, Lipoid, Congenital Congenital Adrenogenital Disorders Associated With Enzyme Deficiency Congenital Adrenal Cortical Hyperplasia Congenital Adrenal Gland Hyperplasia Congenital Adrenogenital Syndrome Congenital Hyperadrenocorticism Congenital Adrenogenitalism Congenital Female Adrenal Pseudohermaphroditism
Cryptorchidism, Unilateral Or Bilateral	Cryptorchidism Undescended Testicle Undescended Testis Cryptorchism Undescended Testicles CRYPTO Impaired Testicular Descent Cryptosporidiosis Retained Testis Unilateral Cryptorchidism Unilateral Undescended Testis Nondescent Unilateral Testicle Unilateral Cryptorchism Ectopic Testis, Unilateral Bilateral Cryptorchidism Bilateral Cryptorchism Bilateral Nondescent Testicle Bilateral Undescended Testes Bilateral Ectopic Testes
Kallmann Syndrome	Hypogonadism With Anosmia Kallman'S Syndrome Anosmic Hypogonadism Anosmic Idiopathic Hypogonadotropic Hypogonadism Hypogonadotropic Hypogonadism And Anosmia Hypogonadotropic Hypogonadism-Anosmia Syndrome Olfacto-Genital Pathological Sequence Familial Hypogonadism With Anosmia Kallman Syndrome Dysplasia Olfactogenitalis Of De Morsier Kallmann'S Syndrome Congenital Hypogonadotropic Hypogonadism With Anosmia
Fanconi Anemia, Complementation Group A	Fanconi Anemia Fanconi Pancytopenia Fanconi Anemia Complementation Group A FANCA Fa Fanconi Panmyelopathy Fanconi'S Anemia Fanconi Anaemia Fanconi'S Anaemia Fanconi Hypoplastic Anemia Estren-Dameshek Variant Of Fanconi Anemia Estren-Dameshek Variant Of Fanconi Pancytopenia Fanconi Anemia Estren-Dameshek Variant Fanconis Anemia
Body Mass Index Quantitative Trait Locus 11	OBESITY Obesity, Susceptibility To Leanness, Inherited Obesity, Susceptibility To, Bmiq11 Obesity, Mild, Early-Onset Obesity, Association With Obesity, Early-Onset, Susceptibility To Obesity, Severe Obesity, Severe, And Type Ii Diabetes Obesity, Late-Onset Obesity , Susceptibility To BMIQ11 Obesity Bmiq11 Obesity, Early-Onset Simple Obesity Nos Excess Fat Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified Adiposis

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (12)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-P4190	Fsh receptor-binding inhibitor fragment(bi-10)	Antagonist	99.19%	Unkown
HY-12381	ML224	Antagonist	99.18%	Unkown
HY-164764	ADX61623	Inhibitor	98.84%	Unkown
HY-150210	FSHR agonist 1	Agonist	99.45%	Unkown
HY-160857	TOP5668	Agonist	98.07%	Unkown
HY-160856	TOP5300	Agonist	/	Unkown
HY-182705	Org 214444-0		/	Unkown
HY-P10780	RFRP-3 (mouse)		98.82%	Unkown
HY-RS05124	FSHR Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-W673613	ADX68692	Inhibitor	/	Unkown
HY-RS16988	Fshr Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23431	Fshr Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	FSHR	VGNC	VGNC:29132
Rattus norvegicus	FSHR	RGD	RGD:2632
Canis familiaris	FSHR	VGNC	VGNC:40997
Macaca mulatta	FSHR	VGNC	VGNC:72822
Mus musculus	FSHR	MGD	MGI:95583
Felis catus	FSHR	VGNC	VGNC:80105
Others	FSHR	NCBI