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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

FSHR Gene

protein-coding GIFtS: 69
GCID: GC02M049189

follicle stimulating hormone receptor

(Previous symbol: ODG1)

Explore 58 diseases affiliated with
FSHR via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Follicle Stimulating Hormone Receptor¹ ²		Follitropin Receptor² ³
LGR1¹ ² ³		Follicle-Stimulating Hormone Receptor²
ODG1¹ ² ⁵		FSH Receptor²
FSHRO¹ ²		FSH-R³

External Ids:	HGNC: 3969¹	Entrez Gene: 2492²	Ensembl: ENSG00000170820⁷	OMIM: 136435⁵	UniProtKB: P23945³

Export aliases for FSHR gene to outside databases

Previous GC identifers: GC02M049220 GC02M049358 GC02M049164 GC02M049101 GC02M048923

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for FSHR:

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)

UniProtKB/Swiss-Prot: FSHR_HUMAN, P23945

Function: Receptor for follicle-stimulating hormone. The activity of this receptor is mediated by G proteins which

activate adenylate cyclase

Gene Wiki entry for FSHR (FSH-receptor)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000002.11 NC_018913.1 NT_022184.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the FSHR gene promoter:
FOXO1a POU3F2 ATF FOXO1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: FSHR promoter sequence

Search SABiosciences Chromatin IP Primers for FSHR

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FSHR

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2p21-p16 Ensembl cytogenetic band: 2p16.3 HGNC cytogenetic band: 2p21-p16

FSHR Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FSHR gene location

GeneLoc information about chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02M049189: view genomic region (about GC identifiers)

Start:	49,189,296 bp from pter	End:	49,381,676 bp from pter
Size:	192,381 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: FSHR_HUMAN, P23945 (See protein sequence)

Recommended Name: Follicle-stimulating hormone receptor precursor

Size: 695 amino acids; 78265 Da

Subunit: Interacts with ARRB2 (By similarity)

Subcellular location: Cell membrane; Multi-pass membrane protein

3 PDB 3D structures from and Proteopedia for FSHR:

1XUN (3D)

1XWD (3D)

4AY9 (3D)

Secondary accessions: A8K947 Q05AH0 Q16225 Q4QRJ3 Q4ZFZ2 Q53RW2

Alternative splicing: 3 isoforms: P23945-1 P23945-2 P23945-3

Explore the universe of human proteins at neXtProt for FSHR: NX_P23945

Post-translational modifications:

N-glycosylated; indirectly required for FSH-binding, possibly via a conformational change that allows high affinity

binding of hormone (By similarity)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P23945

FSHR Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_000136.2 NP_852111.2

ENSEMBL proteins:

ENSP00000384708 ENSP00000306780 ENSP00000415504 ENSP00000405775 ENSP00000333908

ENSP00000444172

Reactome Protein details: P23945
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	Uscn Proteins for FSHR

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005768	endosome	--	--
GO:0005886	plasma membrane	TAS	--
GO:0009986	cell surface	--	--
GO:0016021	integral to membrane	IEA	--

FSHR for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for FSHR

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

FSHR for domains About GeneDecksing

5/6 InterPro domains/families (see all 6):

IPR017452 GPCR_Rhodpsn_7TM

IPR002131 Gphrmn_rcpt

IPR002272 FSH_rcpt

IPR024635 GnHR_TM

IPR000372 LRR-contain_N

Graphical View of Domain Structure for InterPro Entry P23945

ProtoNet protein and cluster: P23945

3 Blocks protein families:

IPB000372 Cysteine-rich flanking region

IPB002131 Glycoprotein hormone receptor signature

IPB002272 Follicle stimulating hormone receptor precursor signature

UniProtKB/Swiss-Prot: FSHR_HUMAN, P23945

Similarity: Belongs to the G-protein coupled receptor 1 family. FSH/LSH/TSH subfamily

Similarity: Contains 9 LRR (leucine-rich) repeats

Similarity: Contains 1 LRRNT domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: FSHR_HUMAN, P23945

Function: Receptor for follicle-stimulating hormone. The activity of this receptor is mediated by G proteins which

activate adenylate cyclase

Genatlas biochemistry entry for FSHR:

follicle stimulating hormone receptor,G protein coupled receptor superfamily

miRNA Products:		OriGene 3'-UTR Clone (see all 2): FSHR Browse MicroRNA Expression Plasmids
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		7 QIAGEN miScript miRNA Assays for microRNAs that regulate FSHR:
		hsa-miR-653 hsa-miR-633 hsa-miR-23b hsa-miR-130a* hsa-miR-23a hsa-miR-944 hsa-miR-23c
		SwitchGear 3'UTR luciferase reporter plasmid: FSHR 3' UTR sequence

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Gene Editing
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FSHR

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004963	follicle-stimulating hormone receptor activity	IEA	--
GO:0005515	protein binding	IPI	15196694
GO:0017046	peptide hormone binding	--	--

FSHR for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for FSHR:

Decreased Salmonella enterica

Animal Models:
Mouse knock-outs for FSHR: Fshr^tm1Saco Fshr^tm1Mha
15/17 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Fshr) (see all 17):

adipose tissue	behavior/neurological	cardiovascular system	cellular	endocrine/exocrine gland
growth/size	hematopoietic system	homeostasis/metabolism	immune system	integument
limbs/digits/tail	mortality/aging	nervous system	other	reproductive system

FSHR for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/10 super-pathways (see all 10) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Class A/1 (Rhodopsin-like receptors)

	Class A/1 (Rhodopsin-like receptors)	1.00			GPCRs, Class A Rhodopsin-like	0.41
	GPCR ligand binding	0.75			Neuroactive ligand-receptor interaction	0.38

Signaling by GPCR

	Signaling by GPCR	1.00			Signal Transduction	0.56
	GPCR downstream signaling	0.89

Transcription_CREM signaling in testis

Transcription_CREM signaling in testis

1.00

Transcription CREM signaling in testis

0.96

PKA activation in glucagon signalling

Development_Role of Activin A in cell differentiation and proliferation

0.33

Development Role of Activin A in cell differentiation and proliferation

0.33

FSH signaling pathway

FSH signaling pathway

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

2 EMD Millipore Pathways for FSHR

	Development Role of Activin A in cell differentiation and proliferation
	Transcription CREM signaling in testis

2 GeneGo (Thomson Reuters) Pathways for FSHR

	Development Role of Activin A in cell differentiation and proliferation
	Transcription CREM signaling in testis

5 BioSystems Pathways for FSHR

	FSH signaling pathway
	GPCRs, Other
	Ovarian Infertility Genes
	GPCRs, Class A Rhodopsin-like
	Peptide GPCRs

5/7 Reactome Pathways for FSHR (see all 7)

	GPCR downstream signaling
	Hormone ligand-binding receptors
	Signal Transduction
	Signaling by GPCR
	GPCR ligand binding

1 Kegg Pathway (Kegg details for FSHR):

Neuroactive ligand-receptor interaction

FSHR for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for FSHR

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/84 Interacting proteins for FSHR (P23945^{1, 2, 3} ENSP00000384708⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 84)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
YWHAQ	P27348¹^,²^,³, ENSP00000238081⁴	EBI-848267,EBI-359854 MINT-8009599 MINT-8010010 I2D: score=3 STRING: ENSP00000238081
APPL1	Q9UKG1³, ENSP00000288266⁴	I2D: score=2 STRING: ENSP00000288266
GRK6	P43250³, ENSP00000377204⁴	I2D: score=2 STRING: ENSP00000377204
GRK4	P32298³, ENSP00000381129⁴	I2D: score=1 STRING: ENSP00000381129
S100A10	P60903³, ENSP00000357799⁴	I2D: score=1 STRING: ENSP00000357799

About this table

Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007186	G-protein coupled receptor signaling pathway	TAS	9020851
GO:0007189	adenylate cyclase-activating G-protein coupled receptor signaling pathway	--	--
GO:0007283	spermatogenesis	TAS	9020851
GO:0007292	female gamete generation	TAS	9020851
GO:0008406	gonad development	TAS	9020851

FSHR for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

FSHR for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for FSHR

5 DrugBank Compounds for FSHR About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Follitropin beta	Follicle-stimulating hormone beta subunit (see all 5)	9002-68-0	target	agonist	18020563 11299519 11752352 2108722 8070368 8319832 7755615
Urofollitropin	Follicle-stimulating hormone beta subunit (see all 4)	146479-72-3	target	agonist	11299519 11752352 2108722 8319832 7755615 8070368
Menotropins	LH-B (see all 5)	61489-71-2	target	binder	17139284 7872378 11752352 14680547 17016423
Choriogonadotropin alfa	CG-beta (see all 3)	177073-44-8	target	binder	17059863 11752352 20374735 9027352
Suramin	Bayer 205 (see all 6)	145-63-1	target	antagonist	17552360 18991754

10/39 Novoseek chemical compound relationships for FSHR gene (see all 39) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
fmpp	62.6	2	9562960 (1), 10585764 (1)
thiazolidinone	59.1	7	18252197 (4), 16540466 (1), 15002967 (1)
estradiol	55.5	9	14757479 (2), 16540466 (1), 18063689 (1), 8835681 (1) (see all 7)
testosterone	54	19	18697861 (2), 11866694 (2), 17179193 (2), 7665215 (2) (see all 11)
gnrh	51.9	7	17447629 (1), 15146100 (1), 11600542 (1), 19403562 (1) (see all 5)
progesterone	48.3	13	18325989 (2), 16540466 (1), 8033817 (1), 10965925 (1) (see all 12)
estrogen	41	24	19687284 (2), 20172968 (1), 20428406 (1), 10443703 (1) (see all 12)
adenylate	39.4	5	7734057 (1), 8033817 (1), 8882170 (1), 8384005 (1) (see all 5)
alanine	39.2	4	9020851 (1), 10996428 (1), 10685529 (1), 15279907 (1)
ribonucleic acid	31.8	3	1322283 (1), 9435455 (1), 9360535 (1)

Search CenterWatch for drugs/clinical trials and news about FSHR

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for FSHR gene (2 alternative transcripts):

NM_000145.3 NM_181446.2

Unigene Cluster for FSHR:

Follicle stimulating hormone receptor

Hs.1428 [show with all ESTs]

Unigene Representative Sequence: NM_000145

7 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000406846(uc002rww.3 uc010fbn.3) ENST00000304421 ENST00000454032

ENST00000469138 ENST00000419927(uc010fbo.2) ENST00000346173(uc002rwx.3)

ENST00000541117

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		7 QIAGEN miScript miRNA Assays for microRNAs that regulate FSHR:
		hsa-miR-653 hsa-miR-633 hsa-miR-23b hsa-miR-130a* hsa-miR-23a hsa-miR-944 hsa-miR-23c
		SwitchGear 3'UTR luciferase reporter plasmid: FSHR 3' UTR sequence

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FSHR

Additional cDNA sequence:

AK292562.1 AK301899.1 AK310367.1 AY429104.1 BC096831.1 BC118548.1 BC125270.1 JN003607.1

M65085.1 M95489.1 S59900.1 X68044.1

3 DOTS entries:

DT.308058 DT.91751765 DT.120954271

10 AceView cDNA sequences:

M95489 CN839208 NM_181446 S59900 AY429104 NM_000145 M65085 X68044

BV183412 CN838939

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

FSHR expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGATACATTA

About this image

FSHR expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

3 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Ovary

Testis

Testis

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 4 LifeMap Cells

Name

Category

Endoderm progenitor-like cells (Generation and expan...)

Primitive gut tube-like cells (A scalable, suspensi...)

Mesoderm-like cells (Derivation of cardio...)

Mature follicles (In-vitro growth and ...)

See FSHR Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for FSHR

SOURCE GeneReport for Unigene cluster: Hs.1428

UniProtKB/Swiss-Prot: FSHR_HUMAN, P23945

Tissue specificity: Sertoli cells and ovarian granulosa cells

SABiosciences Expression via Pathway-Focused PCR Array including FSHR:

G Protein Coupled Receptors 384HT in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FSHR

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for FSHR gene from 5/18 species (see all 18) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	FSHR¹	follicle stimulating hormone receptor	73.12(n) 73.41(a)		395962 NM_205079.1 NP_990410.1
lizard (Anolis carolinensis)	Reptilia	B9TWM9_ANOCA⁶ --	--	77(a) 67(a)	1 ↔ many 1 ↔ many	1(259949136-259949819) 1(259910086-259921772)
African clawed frog (Xenopus laevis)	Amphibia	fshr-A²	follicle stimulating hormone receptor	74.4(n)		AJ249846.1
zebrafish (Danio rerio)	Actinopterygii	Dr.24986²	Danio rerio follicle-stimulating hormone receptor (fshr) more	75.6(n)		AY278107.1
fruit fly (Drosophila melanogaster)	Insecta	Fsh³	G-protein coupled receptor protein signaling pathway more	35(a) (best of 2)		3 90C2 --

ENSEMBL Gene Tree for FSHR (if available)
TreeFam Gene Tree for FSHR (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for FSHR gene

LHCGR² LGR5² RXFP1² LGR6² RXFP2² TSHR² LGR4²

4 SIMAP similar genes for FSHR using alignment to 10 protein entries: FSHR_HUMAN (see all proteins):

LHCGR TSHR LINGO3 LGR5

FSHR for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 2 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs6166^1,2	C,F,A,H,	drug-response	48923846(-)	`CACCAA/GTGGTT`	4	N S	mis¹ ese³		56		MN EA NA NS WA CSA EU	11526
rs6165^1,2	C,F,H,	drug-response	49191041(-)	`CTCAGG/ACTAGG`	4	/T /A	mis¹ ese³		42		MN NA NS EA WA CSA EU	10295
rs28928871^1,2	C	pathogenic	48924186(-)	`CTAGTG/AACACC`	4	/N /D	mis¹ ese³		1		NA	2
rs28928870^1,2	C	pathogenic	48924539(-)	`TTTCAC/TTGTCT`	4	T I	mis¹ ese³		1		NA	2
rs121909658^1,2	C	pathogenic	48944184(-)	`CTGTGC/TATTCA`	4	A V	mis¹		0	--	--	--	--
rs140106399^1,2	C,	untested	48923686(+)	`CCAGGA/GATATT`	2	--	ut3¹		0	--	--	--	--
rs986036^1,2	C,F,H,	untested	49117075(-)	`AACACG/ACAAGA`	2	--	us2k¹		9		NS EA WA CSA NA	728
rs12713038^1,2	C,F,A,	untested	49383024(+)	`TGCCCC/TATAAG`	2	--	us2k¹		9		NA WA CSA EA	370
rs189109224^1,2	C,	unknown	49031364(+)	`AATACA/GTACAA`	2	--	int¹		0	--	--	--	--
rs77702470^1,2	F,	--	48922731(+)	`CCAGTG/TATATA`	2	--	ds500¹		1		WA	118

HapMap Linkage Disequilibrium report for FSHR (49189296 - 49381676 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 5 variations for FSHR
4 CNVs: 9411 9410 50511 8945
1 Indel: 73520
Human Gene Mutation Database (HGMD): FSHR

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FSHR

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

FSHR for disorders           About GeneDecksing

OMIM gene information: 136435
OMIM disorders: 233300  276400  608115
UniProtKB/Swiss-Prot: FSHR_HUMAN, P23945

Defects in FSHR are a cause of ovarian dysgenesis type 1 (ODG1) [MIM:233300]; also known as premature ovarian

failure or gonadal dysgenesis XX type or XX gonadal dysgenesis (XXGD) or hereditary hypergonadotropic ovarian failure

or hypergonadotropic ovarian dysgenesis with normal karyotype. ODG1 is an autosomal recessive disease characterized by

primary amenorrhea, variable development of secondary sex characteristics, and high serum levels of

follicle-stimulating hormone (FSH) and luteinizing hormone (LH)

Defects in FSHR are a cause of ovarian hyperstimulation syndrome (OHSS) [MIM:608115]. OHSS is a disorder which

occurs either spontaneously or most often as an iatrogenic complication of ovarian stimulation treatments for in vitro

fertilization. The clinical manifestations vary from abdominal distention and discomfort to potentially

life-threatening, massive ovarian enlargement and capillary leak with fluid sequestration. Pathologic features of this

syndrome include the presence of multiple serous and hemorrhagic follicular cysts lined by luteinized cells, a

condition called hyperreactio luteinalis

20/58 diseases for FSHR (see all 58): About MalaCards

ovarian hyperstimulation syndrome ovarian dysgenesis gonadal dysgenesis, xx type ovarian response to fsh stimulation

precocious puberty, male gonadal dysgenesis precocious puberty mucinous cystadenocarcinoma

sertoli cell-only syndrome ovarian mucinous cystadenocarcinoma sertoli-leydig cell tumor ovarian sex cord tumors

premature menopause polycystic ovary syndrome leydig cell tumor pre-eclampsia

cystadenocarcinoma delayed puberty ovarian dysgenesis 1 anovulation

6 diseases from the University of Copenhagen DISEASES database for FSHR:

Infertility Premature ovarian failure Ovarian hyperstimulation syndrome Amenorrhea

Male infertility Polycystic ovary syndrome

10/56 Novoseek disease relationships for FSHR gene (see all 56) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
absolute infertility	87.8	1	17161332 (1)
xx gonadal dysgenesis	85.2	3	16864747 (1), 7553856 (1)
ovarian failure premature	83.6	22	20086006 (2), 11383926 (2), 18591890 (2), 1592865 (1) (see all 17)
ovarian dysgenesis	80.8	3	9890061 (1), 8855829 (1), 9562960 (1)
ovarian hyperstimulation syndrome	77.4	21	17074323 (2), 17721928 (2), 18321487 (2), 19391457 (1) (see all 14)
primary amenorrhea	76.2	12	19172541 (3), 11889179 (2), 9890061 (1), 20514429 (1) (see all 7)
resistant ovary syndrome	75.8	3	15249125 (1), 10468971 (1), 12444891 (1)
primary ovarian failure	67.1	5	8855829 (1), 11756374 (1), 11889179 (1), 18084009 (1)
granulosa cell tumor	67	21	19539204 (4), 9435455 (3), 11063655 (2), 10372736 (1) (see all 9)
ovarian mucinous cystadenocarcinoma	64.9	6	17393121 (2), 16711022 (2)

Genetic Association Database (GAD): FSHR
Human Genome Epidemiology (HuGE) Navigator: FSHR (65 documents)

Export disorders for FSHR gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for FSHR gene, integrated from 9 sources (see all 464):
(articles sorted by number of sources associating them with FSHR)

Utopia: connect your pdf to the dynamic
world of online information

Distribution and function of FSH receptor genetic variants in normal men. (PubMed id 12059813)^{1, 2, 4} Asatiani K....Simoni M. (2002)
A novel mutation in the FSH receptor inhibiting signal transduction and causing primary ovarian failure. (PubMed id 11889179)^{1, 2, 9} Doherty E.... Aittomaeki K. (2002)
Follitropin receptors contain cryptic ligand binding sites. (PubMed id 17059863)^{1, 7, 9} Lin W....Moyle W.R. (2007)
A novel loss of function mutation in exon 10 of the FSH receptor gene causing hypergonadotrophic hypogonadism: clinical and molecular characteristics. (PubMed id 12571157)^{1, 2, 9} Allen L.A....Ball S.G. (2003)
Identification of the first germline mutation in the extracellular domain of the follitropin receptor responsible for spontaneous ovarian hyperstimulation syndrome. (PubMed id 17721928)^{1, 2, 9} De Leener A....Costagliola S. (2008)
Prediction of severity of symptoms in iatrogenic ovarian hyperstimulation syndrome by follicle-stimulating hormone receptor Ser680Asn polymorphism. (PubMed id 15579795)^{1, 4, 9} Daelemans C....Delbaere A. (2004)
Follicle-stimulating hormone receptor polymorphisms in a population of infertile women. (PubMed id 16026410)^{1, 4, 9} Falconer H....Fried G. (2005)
The frequency of an inactivating point mutation (566C-->T) of the human follicle-stimulating hormone receptor gene in four populations using allele-specific hybridization and time-resolved fluorometry. (PubMed id 9851774)^{1, 2, 9} Jiang M....Huhtaniemi I. (1998)
A novel phenotype related to partial loss of function mutations of the follicle stimulating hormone receptor. (PubMed id 9769327)^{1, 2, 9} Beau I.... Misrahi M. (1998)
A mutation in the follicle-stimulating hormone receptor occurs frequently in human ovarian sex cord tumors. (PubMed id 9100567)^{1, 2, 9} Kotlar T.J....Jameson J.L. (1997)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 2492	HGNC: 3969	AceView: FSHR	Ensembl:ENSG00000170820	euGenes: HUgn2492
ECgene: FSHR	Kegg: 2492	H-InvDB: FSHR

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for FSHR	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for FSHR	Genetics and Cytogenetics in Oncology and Haematology
GRIS	http://gris.ulb.ac.be/
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FSHR
SHMPD	http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=FSHR
Sequence-structure-function-analysis of glycoprotein hormone receptors	http://www.ssfa-gphr.de/

Intellectual Property for FSHR gene
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Patent Information for FSHR gene:
Search GeneIP for patents involving FSHR

GeneCards and IP:
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FSHR Gene

follicle stimulating hormone receptor

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Primary Amenorrhea
XX GONADAL DYSGENESIS
Ovarian Neoplasms
Infertility
TWINNING, DIZYGOTIC
Azoospermia
Endometriosis
PITUITARY ADENOMA
Pituitary Tumors
Cystadenoma
Ovarian dysgenesis
Puberty Delayed
Carcinoma
Hypothyroidism
PROSTATE CARCINOMA
epithelial tumor
Ovarian Failure Premature
Hyperthyroidism
Osteoporosis
HYPOTHYROIDISM PRIMARY
Ovarian Hyperstimulation Syndrome
Adenocarcinoma
Cancer
Oligozoospermia
IMBALANCE HORMONAL
Blepharophimosis
Absolute infertility
GONADAL DYSFUNCTION
SECONDARY AMENORRHEA
Granulosa Cell Tumor
HYPERGONADOTROPIC HYPOGONADISM
Cystadenoma Serous
Ovarian dysfunction
Hypoplasia
Ovarian Cancer
PRECOCIOUS PUBERTY, MALE-LIMITED
Adenoma
OBESITY
Polycystic Ovary Syndrome
Primary ovarian failure
Thyroid Diseases
Puberty Precocious
Infertility Male
ADRENAL TUMOR
Sex Cord-Stromal Tumor
Ovarian Diseases
Resistant Ovary Syndrome
prostate cancer
ovarian mucinous cystadenocarcinoma
Tumors
Necrosis
genetic disorder
Polycystic ovaries
Hyperandrogenism
Anovulation
Hypogonadism

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FSHR Gene

follicle stimulating hormone receptor

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