Human Gene FSHB (ENST00000533718.2_4) from GENCODE V47lift37
  Description: follicle stimulating hormone subunit beta, transcript variant 3 (from RefSeq NM_001382289.1)
Gencode Transcript: ENST00000533718.2_4
Gencode Gene: ENSG00000131808.11_7
Transcript (Including UTRs)
   Position: hg19 chr11:30,252,561-30,256,741 Size: 4,181 Total Exon Count: 3 Strand: +
Coding Region
   Position: hg19 chr11:30,253,450-30,255,347 Size: 1,898 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:30,252,561-30,256,741)mRNA (may differ from genome)Protein (129 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: FSHB_HUMAN
DESCRIPTION: RecName: Full=Follitropin subunit beta; AltName: Full=Follicle-stimulating hormone beta subunit; Short=FSH-B; Short=FSH-beta; AltName: Full=Follitropin beta chain; Flags: Precursor;
FUNCTION: Stimulates development of follicle and spermatogenesis in the reproductive organs.
SUBUNIT: Heterodimer of a common alpha chain and a unique beta chain which confers biological specificity to thyrotropin, lutropin, follitropin and gonadotropin.
INTERACTION: P01215:CGA; NbExp=2; IntAct=EBI-1030645, EBI-718913;
SUBCELLULAR LOCATION: Secreted.
DISEASE: Defects in FSHB are a cause of isolated follicle- stimulating hormone deficiency (IFSHD) [MIM:229070]. Selective follicle-stimulating hormone deficiency is an uncommon cause of infertility, producing amenorrhea and hypogonadism in women and oligo or azoospermia with normal testosterone levels in normally virilised men.
PHARMACEUTICAL: Available under the names Gonal-F or Metrodin HP (Serono) and Puregon (Organon). Used in the treatment of infertility in women with proven hypopituitarism or who have not responded to clomifene; or in superovulation treatment for assisted conception (such as in vitro fertilization). Metrodin HP is also used in the treatment of hypogonadotrophic hypogonadism in men for the stimulation of spermatogenesis.
SIMILARITY: Belongs to the glycoprotein hormones subunit beta family.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FSHB";
WEB RESOURCE: Name=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=FSHB";
WEB RESOURCE: Name=Wikipedia; Note=Follicle-stimulating hormone entry; URL="http://en.wikipedia.org/wiki/Follicle_stimulating_hormone";

-  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


-  MalaCards Disease Associations
  MalaCards Gene Search: FSHB
Diseases sorted by gene-association score: hypogonadotropic hypogonadism 24 without anosmia* (1680), infertility (36), hypogonadism (30), hypogonadotropic hypogonadism (13), amenorrhea (11), azoospermia (10), anovulation (6), iris disease (6), wagr syndrome (5), galactosemia (4)
* = Manually curated disease association

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

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 79.17 RPKM in Pituitary
Total median expression: 79.43 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.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -16.4072-0.228 Picture PostScript Text
3' UTR -361.301394-0.259 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR006208 - Cys_knot
IPR001545 - Gonadotropin_bsu
IPR018245 - Gonadotropin_bsu_CS

Pfam Domains:
PF00007 - Cystine-knot domain

SCOP Domains:
57501 - Cystine-knot cytokines

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1FL7 - X-ray MuPIT 1XWD - X-ray MuPIT 4AY9 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P01225
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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
Gene DetailsGene Details    
Gene SorterGene Sorter    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005179 hormone activity
GO:0005515 protein binding
GO:0016913 follicle-stimulating hormone activity

Biological Process:
GO:0001541 ovarian follicle development
GO:0006701 progesterone biosynthetic process
GO:0007165 signal transduction
GO:0007179 transforming growth factor beta receptor signaling pathway
GO:0007186 G-protein coupled receptor signaling pathway
GO:0007267 cell-cell signaling
GO:0007292 female gamete generation
GO:0007565 female pregnancy
GO:0008284 positive regulation of cell proliferation
GO:0009755 hormone-mediated signaling pathway
GO:0010469 regulation of receptor activity
GO:0010628 positive regulation of gene expression
GO:0016486 peptide hormone processing
GO:0030335 positive regulation of cell migration
GO:0042699 follicle-stimulating hormone signaling pathway
GO:0045670 regulation of osteoclast differentiation
GO:0045780 positive regulation of bone resorption
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0060011 Sertoli cell proliferation

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005737 cytoplasm


-  Descriptions from all associated GenBank mRNAs
  KJ891198 - Synthetic construct Homo sapiens clone ccsbBroadEn_00592 FSHB gene, encodes complete protein.
KR711603 - Synthetic construct Homo sapiens clone CCSBHm_00027667 FSHB (FSHB) mRNA, encodes complete protein.
KR711604 - Synthetic construct Homo sapiens clone CCSBHm_00027669 FSHB (FSHB) mRNA, encodes complete protein.
BC113490 - Homo sapiens follicle stimulating hormone, beta polypeptide, mRNA (cDNA clone MGC:142050 IMAGE:8322542), complete cds.
BC113488 - Homo sapiens follicle stimulating hormone, beta polypeptide, mRNA (cDNA clone MGC:142048 IMAGE:8322540), complete cds.
AB463643 - Synthetic construct DNA, clone: pF1KB7195, Homo sapiens FSHB gene for follicle stimulating hormone, beta polypeptide, without stop codon, in Flexi system.
BC111848 - Synthetic construct Homo sapiens clone IMAGE:40080838, MGC:133392 FSHB protein (FSHB) mRNA, encodes complete protein.
HQ258721 - Synthetic construct Homo sapiens clone IMAGE:100072751 follicle stimulating hormone, beta polypeptide (FSHB), transcript variant 2 (FSHB) gene, encodes complete protein.
EF585489 - Homo sapiens clone pPIC9-F2-336 follicle-stimulating hormone beta subunit precursor (FSHB) mRNA, partial cds.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_cremPathway - Regulation of Spermatogenesis by CREM

Reactome (by CSHL, EBI, and GO)

Protein P01225 (Reactome details) participates in the following event(s):

R-HSA-378975 Follitropin is a heterodimer
R-HSA-391378 Follicle-stimulating hormone receptor can bind FSH
R-HSA-744886 The Ligand:GPCR:Gs complex dissociates
R-HSA-744887 Liganded Gs-activating GPCRs bind inactive heterotrimeric Gs
R-HSA-379044 Liganded Gs-activating GPCR acts as a GEF for Gs
R-HSA-209822 Glycoprotein hormones
R-HSA-375281 Hormone ligand-binding receptors
R-HSA-209952 Peptide hormone biosynthesis
R-HSA-418555 G alpha (s) signalling events
R-HSA-373076 Class A/1 (Rhodopsin-like receptors)
R-HSA-2980736 Peptide hormone metabolism
R-HSA-388396 GPCR downstream signalling
R-HSA-500792 GPCR ligand binding
R-HSA-392499 Metabolism of proteins
R-HSA-372790 Signaling by GPCR
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: A2TF08, A5JVV3, ENST00000533718.1, FSHB_HUMAN, NM_001382289, P01225, Q14D61, uc324lwv.1, uc324lwv.2
UCSC ID: ENST00000533718.2_4
RefSeq Accession: NM_001382289.1
Protein: P01225 (aka FSHB_HUMAN)

-  Gene Model Information
  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.