Human Gene FSHR (uc010fbo.2)
  Description: Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA.
RefSeq Summary (NM_000145): 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].
Transcript (Including UTRs)
   Position: hg19 chr2:49,210,237-49,381,666 Size: 171,430 Total Exon Count: 8 Strand: -


Page IndexSequence and LinksPrimersGenetic AssociationsMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionOther SpeciesmRNA DescriptionsPathwaysOther Names
Model InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:49,210,237-49,381,666)mRNA (may differ from genome)No protein
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
EnsemblExonPrimerGeneNetworkHGNCLynxMalacards
PubMedWikipedia

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): FSHR
CDC HuGE Published Literature: FSHR
Positive Disease Associations: Bone Density , Cholesterol , Erectile Dysfunction , Erythrocyte Count , Infertility, Female , invitro fertilization , Lupus Erythematosus, Systemic , menstrual cycle , ovarian cancer
Related Studies:
  1. Bone Density
    Douglas P Kiel et al. BMC medical genetics 2007, Genome-wide association with bone mass and geometry in the Framingham Heart Study., BMC medical genetics. [PubMed 17903296]
    The FHS 100K SNP project offers an unbiased genome-wide strategy to identify new candidate loci and to replicate previously suggested candidate genes for osteoporosis.
  2. Cholesterol
    , , . [PubMed 0]
  3. Erectile Dysfunction
    Sarah L Kerns et al. International journal of radiation oncology, biology, physics 2010, 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., International journal of radiation oncology, biology, physics. [PubMed 20932654]
    To our knowledge, this is the first genome-wide association study to identify SNPs associated with adverse effects resulting from radiotherapy. It is important to note that the SNP that proved to be significantly associated with ED is located within a gene whose encoded product plays a role in male gonad development and function. Another key finding of this project is that the four SNPs most strongly associated with ED were specific to persons of African ancestry and would therefore not have been identified had a cohort of European ancestry been screened. This study demonstrates the feasibility of a genome-wide approach to investigate genetic predisposition to radiation injury.
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: FSHR
Diseases sorted by gene-association score: ovarian hyperstimulation syndrome* (1419), ovarian dysgenesis 1* (1340), ovarian response to fsh stimulation* (518), 46xx sex reversal 1* (124), amenorrhea (34), ovarian mucinous cystadenocarcinoma (31), ovarian disease (18), premature ovarian failure 1 (18), gonadal disease (17), infertility (15), precocious puberty, male (13), polycystic ovary syndrome (11), estrogen excess (10), anovulation (9), ovarian serous cystadenocarcinoma (7), sertoli cell-only syndrome (6), reproductive system disease (6), mucinous cystadenocarcinoma (6), gonadal dysgenesis (6), female reproductive system disease (5), male infertility (4), ovarian cancer, somatic (3), male reproductive system disease (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 1.32 RPKM in Testis
Total median expression: 1.92 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
      
      
      
      
      

-  Descriptions from all associated GenBank mRNAs
  AK292562 - Homo sapiens cDNA FLJ76455 complete cds, highly similar to Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA.
M65085 - Human follicle stimulating hormone receptor mRNA, complete cds.
BC118548 - Homo sapiens follicle stimulating hormone receptor, mRNA (cDNA clone MGC:141668 IMAGE:40007014), complete cds.
BC125270 - Homo sapiens follicle stimulating hormone receptor, mRNA (cDNA clone MGC:141667 IMAGE:40007010), complete cds.
JN003607 - Homo sapiens follicle-stimulating hormone receptor (FSHR) mRNA, complete cds.
M95489 - H.sapiens follicle stimulating hormone receptor mRNA, complete cds.
S59900 - follicle stimulating hormone receptor [human, testis, mRNA, 2179 nt].
AY429104 - Homo sapiens follicle stimulating hormone receptor mRNA, complete cds.
BC096831 - Homo sapiens follicle stimulating hormone receptor, mRNA (cDNA clone MGC:111705 IMAGE:7001973), complete cds.
KJ896830 - Synthetic construct Homo sapiens clone ccsbBroadEn_06224 FSHR gene, encodes complete protein.
KR711780 - Synthetic construct Homo sapiens clone CCSBHm_00030845 FSHR (FSHR) mRNA, encodes complete protein.
KR711781 - Synthetic construct Homo sapiens clone CCSBHm_00030846 FSHR (FSHR) mRNA, encodes complete protein.
KR711782 - Synthetic construct Homo sapiens clone CCSBHm_00030853 FSHR (FSHR) mRNA, encodes complete protein.
KR711783 - Synthetic construct Homo sapiens clone CCSBHm_00030860 FSHR (FSHR) mRNA, encodes complete protein.
X68044 - H.sapiens mRNA for follicle-stimulating hormone receptor.
AK310367 - Homo sapiens cDNA, FLJ17409.
AK301899 - Homo sapiens cDNA FLJ51657 complete cds, highly similar to Follicle-stimulating hormone receptor precursor.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04080 - Neuroactive ligand-receptor interaction

BioCarta from NCI Cancer Genome Anatomy Project
h_cremPathway - Regulation of Spermatogenesis by CREM

-  Other Names for This Gene
  Alternate Gene Symbols: AK310367
UCSC ID: uc010fbo.2
RefSeq Accession: NM_000145

-  Gene Model Information
 
category: nearCoding nonsense-mediated-decay: yes RNA accession: AK310367.1
exon count: 8CDS single in 3' UTR: no RNA size: 936
ORF size: 0CDS single in intron: no Alignment % ID: 99.89
txCdsPredict score: 694.50frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.