FSHR follicle stimulating hormone receptor [Homo sapiens (human)] - Gene

Summary

Official Symbol: FSHRprovided by HGNC
Official Full Name: follicle stimulating hormone receptorprovided by HGNC
Primary source: HGNC:HGNC:3969
See related: Ensembl:ENSG00000170820 MIM:136435; AllianceGenome:HGNC:3969
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: LGR1; ODG1; FSHR1; FSHRO
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]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 2p16.3

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (48962157..49154515, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (48958181..49150411, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (49189296..49381654, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Prevalence of FSH-R Asn680Ser and Ala307Thr receptor polymorphism and their correlation with ART outcomes among infertile Indian-Asian women-a prospective cohort study.
Title: Prevalence of FSH-R Asn680Ser and Ala307Thr receptor polymorphism and their correlation with ART outcomes among infertile Indian-Asian women-a prospective cohort study.
Polymorphisms in FSHR modulating susceptibility to polycystic ovary syndrome: an updated meta-analysis.
Title: Polymorphisms in FSHR modulating susceptibility to polycystic ovary syndrome: an updated meta-analysis.
Ala307Thr variation modulates FSHR structure and impairs its binding affinity for FSH: Implications in polycystic ovarian syndrome.
Title: Ala307Thr variation modulates FSHR structure and impairs its binding affinity for FSH: Implications in polycystic ovarian syndrome.
Analyzing the Impact of FSHR Variants on Polycystic Ovary Syndrome-a Case-Control Study in Punjab.
Title: Analyzing the Impact of FSHR Variants on Polycystic Ovary Syndrome-a Case-Control Study in Punjab.
Exploring the expression and potential function of follicle stimulating hormone receptor in extragonadal cells related to abdominal aortic aneurysm.
Title: Exploring the expression and potential function of follicle stimulating hormone receptor in extragonadal cells related to abdominal aortic aneurysm.
Association between sequence variants in the FSHR gene and reproductive outcomes following IVF in predicted normoresponders.
Title: Association between sequence variants in the FSHR gene and reproductive outcomes following IVF in predicted normoresponders.
Association of FSHR and DENND1A polymorphisms with polycystic ovary syndrome: a meta-analysis.
Title: Association of FSHR and DENND1A polymorphisms with polycystic ovary syndrome: a meta-analysis.
The Effect of the Allelics of Ser680Asn Polymorphisms of Follicle-Stimulating Hormone Receptor Gene in IVF/ICSI Cycles: a Systematic Review and Meta-analysis.
Title: The Effect of the Allelics of Ser680Asn Polymorphisms of Follicle-Stimulating Hormone Receptor Gene in IVF/ICSI Cycles: a Systematic Review and Meta-analysis.
FSH receptor genotype and its influence on the results of donor ovarian stimulation using corifollitropin alfa.
Title: FSH receptor genotype and its influence on the results of donor ovarian stimulation using corifollitropin alfa.
The effect of polymorphisms in FSHR gene on late follicular phase progesterone and estradiol serum levels in predicted normoresponders.
Title: The effect of polymorphisms in FSHR gene on late follicular phase progesterone and estradiol serum levels in predicted normoresponders.

Submit: New GeneRIF Correction See all GeneRIFs (287)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Dizygotic twins MedGen: C0220761 OMIM: 276400 GeneReviews: Not available	Compare labs
Ovarian dysgenesis 1 MedGen: C0949595 OMIM: 233300 GeneReviews: Not available	Compare labs
Ovarian hyperstimulation syndrome MedGen: C0085083 OMIM: 608115 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study to identify single nucleotide polymorphisms (SNPs) associated with the development of erectile dysfunction in African-American men after radiotherapy for prostate cancer. EBI GWAS Catalog EBI GWAS CatalogPubMed
Radiation pharmacogenomics: a genome-wide association approach to identify radiation response biomarkers using human lymphoblastoid cell lines. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

FSHR__6759 (e-PCR)
- UniSTS:466192

RH69164 (e-PCR)
- UniSTS:49738

FSHR (e-PCR)
- UniSTS:264013

D2S2824 (e-PCR)
- UniSTS:74829

SHGC-105129 (e-PCR)
- UniSTS:169168

SHGC-89265 (e-PCR)
- UniSTS:104919

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G protein-coupled peptide receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables follicle-stimulating hormone receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables follicle-stimulating hormone receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables follicle-stimulating hormone receptor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to follicle-stimulating hormone stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in female gamete generation	TAS Traceable Author Statement more info	PubMed
involved_in female gonad development	TAS Traceable Author Statement more info	PubMed
involved_in follicle-stimulating hormone signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in follicle-stimulating hormone signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in follicle-stimulating hormone signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in gonad development	TAS Traceable Author Statement more info	PubMed
involved_in hormone-mediated signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in male gonad development	IBA Inferred from Biological aspect of Ancestor more info
involved_in male gonad development	IEP Inferred from Expression Pattern more info	PubMed
involved_in positive regulation of ERK1 and ERK2 cascade	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of protein kinase A signaling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in spermatogenesis	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
part_of receptor complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: follicle-stimulating hormone receptor

Names: FSH receptor; follitropin receptor

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008146.1 RefSeqGene

Range

4965..197335

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_536

mRNA and Protein(s)

NM_000145.4 → NP_000136.2 follicle-stimulating hormone receptor isoform 1 precursor

See identical proteins and their annotated locations for NP_000136.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC007189, AK292562, BC118548, BC125270, DB064473

Consensus CDS

CCDS1843.1

UniProtKB/Swiss-Prot

A0A0A0MSC5, A0A1D5RMN4, A8K947, G5CBS7, G5E967, J3KQ00, P23945, Q05AH0, Q16225, Q4QRJ3, Q4ZFZ2, Q53RW2

Related

ENSP00000384708.2, ENST00000406846.7

Conserved Domains (6) summary

sd00033
Location:48 → 71

LRR_RI; leucine-rich repeat [structural motif]

cd15360
Location:363 → 637

7tmA_FSH-R; follicle-stimulating hormone receptor, member of the class A family of seven-transmembrane G protein-coupled receptors

pfam01462
Location:20 → 45

LRRNT; Leucine rich repeat N-terminal domain

pfam12369
Location:282 → 349

GnHR_trans; Gonadotropin hormone receptor transmembrane region

pfam13306
Location:57 → 194

LRR_5; Leucine rich repeats (6 copies)

pfam13855
Location:72 → 132

LRR_8; Leucine rich repeat
NM_181446.3 → NP_852111.2 follicle-stimulating hormone receptor isoform 2 precursor

See identical proteins and their annotated locations for NP_852111.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in a shorter isoform (2), compared to isoform 1.

Source sequence(s)

AC007189, AK292562, BC125270, DB064473

Consensus CDS

CCDS1844.2

Related

ENSP00000306780.4, ENST00000304421.8

Conserved Domains (7) summary

smart00013
Location:20 → 50

LRRNT; Leucine rich repeat N-terminal domain

COG4886
Location:93 → 273

LRR; Leucine-rich repeat (LRR) protein [Transcription]

sd00033
Location:72 → 96

LRR_RI; leucine-rich repeat [structural motif]

pfam00001
Location:353 → 600

7tm_1; 7 transmembrane receptor (rhodopsin family)

pfam12369
Location:256 → 323

GnHR_trans; Gonadotropin hormone receptor transmembrane region

pfam12799
Location:120 → 159

LRR_4; Leucine Rich repeats (2 copies)

pfam13855
Location:72 → 132

LRR_8; Leucine rich repeat

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

48962157..49154515 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011532733.3 → XP_011531035.1 follicle-stimulating hormone receptor isoform X1

Conserved Domains (5) summary

smart00013
Location:20 → 50

LRRNT; Leucine rich repeat N-terminal domain

sd00033
Location:72 → 96

LRR_RI; leucine-rich repeat [structural motif]

pfam00001
Location:413 → 660

7tm_1; 7 transmembrane receptor (rhodopsin family)

pfam12369
Location:316 → 383

GnHR_trans; Gonadotropin hormone receptor transmembrane region

pfam13306
Location:61 → 216

LRR_5; Leucine rich repeats (6 copies)
XM_047443867.1 → XP_047299823.1 follicle-stimulating hormone receptor isoform X2
XM_011532735.3 → XP_011531037.1 follicle-stimulating hormone receptor isoform X3

See identical proteins and their annotated locations for XP_011531037.1

UniProtKB/TrEMBL

A0A0G3FIY1, T2HV29

Conserved Domains (2) summary

pfam00001
Location:115 → 362

7tm_1; 7 transmembrane receptor (rhodopsin family)

pfam12369
Location:18 → 85

GnHR_trans; Gonadotropin hormone receptor transmembrane region
XM_011532740.1 → XP_011531042.1 follicle-stimulating hormone receptor isoform X4

Conserved Domains (3) summary

smart00013
Location:17 → 50

LRRNT; Leucine rich repeat N-terminal domain

sd00033
Location:72 → 96

LRR_RI; leucine-rich repeat [structural motif]

pfam13306
Location:61 → 216

LRR_5; Leucine rich repeats (6 copies)

Alternate T2T-CHM13v2.0

Genomic

NC_060926.1 Alternate T2T-CHM13v2.0

Range

48958181..49150411 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054341258.1 → XP_054197233.1 follicle-stimulating hormone receptor isoform X1
XM_054341259.1 → XP_054197234.1 follicle-stimulating hormone receptor isoform X2
XM_054341260.1 → XP_054197235.1 follicle-stimulating hormone receptor isoform X3

UniProtKB/TrEMBL

B4DXB5
XM_054341261.1 → XP_054197236.1 follicle-stimulating hormone receptor isoform X4