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Aliases for FSHB Gene

Aliases for FSHB Gene

  • Follicle Stimulating Hormone Beta Subunit 2 3 5
  • Follicle Stimulating Hormone, Beta Polypeptide 2 3
  • Follitropin, Beta Chain 2 3
  • FSH-Beta 3 4
  • FSH-B 3 4
  • Follicle-Stimulating Hormone Beta Subunit 4
  • Follitropin Subunit Beta 3
  • Follitropin Beta Chain 4
  • HH24 3

External Ids for FSHB Gene

Previous GeneCards Identifiers for FSHB Gene

  • GC11P031850
  • GC11P031028
  • GC11P030292
  • GC11P030217
  • GC11P029945

Summaries for FSHB Gene

Entrez Gene Summary for FSHB Gene

  • The pituitary glycoprotein hormone family includes follicle-stimulating hormone, luteinizing hormone, chorionic gonadotropin, and thyroid-stimulating hormone. All of these glycoproteins consist of an identical alpha subunit and a hormone-specific beta subunit. This gene encodes the beta subunit of follicle-stimulating hormone. In conjunction with luteinizing hormone, follicle-stimulating hormone induces egg and sperm production. Alternative splicing results in two transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]

GeneCards Summary for FSHB Gene

FSHB (Follicle Stimulating Hormone Beta Subunit) is a Protein Coding gene. Diseases associated with FSHB include Hypogonadotropic Hypogonadism 24 Without Anosmia and Infertility. Among its related pathways are Signaling by GPCR and Hormone ligand-binding receptors. GO annotations related to this gene include hormone activity and follicle-stimulating hormone activity. An important paralog of this gene is TSHB.

UniProtKB/Swiss-Prot for FSHB Gene

  • Stimulates development of follicle and spermatogenesis in the reproductive organs.

Gene Wiki entry for FSHB Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FSHB Gene

Genomics for FSHB Gene

Regulatory Elements for FSHB Gene

Enhancers for FSHB Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11F030206 0.7 ENCODE 11.6 -24.0 -24034 0.9 MTA2 CBFB REST EBF1 TBX21 ZBTB40 ZFHX2 IKZF1 MLLT1 SPI1 FSHB ARL14EP PIR56798 PIR58414
GH11F030196 0.6 ENCODE 11.6 -33.9 -33900 0.2 CTCF ZNF654 ZNF143 SMC3 RAD21 FSHB PIR58414 GC11P030178 GC11P030179
GH11F030486 1.5 FANTOM5 Ensembl ENCODE 3.2 +257.8 257798 3.0 PKNOX1 ATF1 FEZF1 YY1 SLC30A9 KAT8 ZNF610 SMARCA4 ZSCAN16 MYNN MPPED2 ARL14EP FSHB ENSG00000255480 GC11P030582
GH11F030197 0.4 ENCODE 11.6 -32.6 -32577 1.0 SETDB1 FSHB PIR58414 GC11P030178 GC11P030179
GH11F030282 0.4 Ensembl 11.1 +51.6 51613 0.6 SMARCA4 FSHB LOC105376607
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FSHB on UCSC Golden Path with GeneCards custom track

Genomic Location for FSHB Gene

Chromosome:
11
Start:
30,230,688 bp from pter
End:
30,235,277 bp from pter
Size:
4,590 bases
Orientation:
Plus strand

Genomic View for FSHB Gene

Genes around FSHB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FSHB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FSHB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FSHB Gene

Proteins for FSHB Gene

  • Protein details for FSHB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P01225-FSHB_HUMAN
    Recommended name:
    Follitropin subunit beta
    Protein Accession:
    P01225
    Secondary Accessions:
    • A2TF08
    • A5JVV3
    • Q14D61

    Protein attributes for FSHB Gene

    Size:
    129 amino acids
    Molecular mass:
    14700 Da
    Quaternary structure:
    • Heterodimer of a common alpha chain and a unique beta chain which confers biological specificity to thyrotropin, lutropin, follitropin and gonadotropin.

    Three dimensional structures from OCA and Proteopedia for FSHB Gene

neXtProt entry for FSHB Gene

Post-translational modifications for FSHB Gene

  • Glycosylation at Asn 25 and Asn 42
  • Modification sites at PhosphoSitePlus

Other Protein References for FSHB Gene

No data available for DME Specific Peptides for FSHB Gene

Domains & Families for FSHB Gene

Gene Families for FSHB Gene

Suggested Antigen Peptide Sequences for FSHB Gene

Graphical View of Domain Structure for InterPro Entry

P01225

UniProtKB/Swiss-Prot:

FSHB_HUMAN :
  • Belongs to the glycoprotein hormones subunit beta family.
Family:
  • Belongs to the glycoprotein hormones subunit beta family.
genes like me logo Genes that share domains with FSHB: view

Function for FSHB Gene

Molecular function for FSHB Gene

GENATLAS Biochemistry:
follicle stimulating hormone,beta polypeptide
UniProtKB/Swiss-Prot Function:
Stimulates development of follicle and spermatogenesis in the reproductive organs.

Gene Ontology (GO) - Molecular Function for FSHB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005179 hormone activity IEA,TAS 8220432
GO:0005515 protein binding IPI 11222739
GO:0016913 follicle-stimulating hormone activity IMP 11514332
genes like me logo Genes that share ontologies with FSHB: view
genes like me logo Genes that share phenotypes with FSHB: view

Human Phenotype Ontology for FSHB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FSHB Gene

MGI Knock Outs for FSHB:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for FSHB Gene

Localization for FSHB Gene

Subcellular locations from UniProtKB/Swiss-Prot for FSHB Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FSHB gene
Compartment Confidence
extracellular 5
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for FSHB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region NAS,TAS --
GO:0005615 extracellular space IBA --
GO:0005737 cytoplasm IDA 14602737
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with FSHB: view

Pathways & Interactions for FSHB Gene

genes like me logo Genes that share pathways with FSHB: view

Gene Ontology (GO) - Biological Process for FSHB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006701 progesterone biosynthetic process TAS 14557487
GO:0007165 signal transduction TAS 8220432
GO:0007179 transforming growth factor beta receptor signaling pathway IEP 14557487
GO:0007267 cell-cell signaling IBA --
GO:0007292 female gamete generation TAS 8220432
genes like me logo Genes that share ontologies with FSHB: view

No data available for SIGNOR curated interactions for FSHB Gene

Drugs & Compounds for FSHB Gene

(13) Drugs for FSHB Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(8) Additional Compounds for FSHB Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with FSHB: view

Transcripts for FSHB Gene

mRNA/cDNA for FSHB Gene

(2) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(11) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for FSHB Gene

Follicle stimulating hormone, beta polypeptide:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for FSHB Gene

No ASD Table

Relevant External Links for FSHB Gene

GeneLoc Exon Structure for
FSHB
ECgene alternative splicing isoforms for
FSHB

Expression for FSHB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FSHB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FSHB Gene

This gene is overexpressed in Pituitary (x52.5).

NURSA nuclear receptor signaling pathways regulating expression of FSHB Gene:

FSHB

SOURCE GeneReport for Unigene cluster for FSHB Gene:

Hs.36975
genes like me logo Genes that share expression patterns with FSHB: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for FSHB Gene

Orthologs for FSHB Gene

This gene was present in the common ancestor of chordates.

Orthologs for FSHB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FSHB 34 35
  • 98.45 (n)
cow
(Bos Taurus)
Mammalia FSHB 34 35
  • 86.05 (n)
-- 35
  • 85 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Fshb 34 16 35
  • 85.01 (n)
rat
(Rattus norvegicus)
Mammalia Fshb 34
  • 83.98 (n)
dog
(Canis familiaris)
Mammalia FSHB 34 35
  • 79.59 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia FSHB 35
  • 70 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FSHB 35
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves FSHB 34 35
  • 72.22 (n)
lizard
(Anolis carolinensis)
Reptilia FSHB 35
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fshb 34
  • 63.82 (n)
zebrafish
(Danio rerio)
Actinopterygii fshb 34 35
  • 55.43 (n)
Species where no ortholog for FSHB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FSHB Gene

ENSEMBL:
Gene Tree for FSHB (if available)
TreeFam:
Gene Tree for FSHB (if available)

Paralogs for FSHB Gene

Paralogs for FSHB Gene

(9) SIMAP similar genes for FSHB Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for FSHB Gene

genes like me logo Genes that share paralogs with FSHB: view

Variants for FSHB Gene

Sequence variations from dbSNP and Humsavar for FSHB Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs5030776 Hypogonadotropic hypogonadism 24 without anosmia (HH24) [MIM:229070], Pathogenic 30,233,615(+) AAACA(G/T)GTACC intron-variant, reference, missense
rs121909666 Pathogenic 30,233,692(+) ACATA(A/C)CCAGT intron-variant, reference, stop-gained
rs5030646 Pathogenic 30,233,646(+) AACAG(-/TG)AGAGT intron-variant, reference, frameshift-variant
rs5030777 Pathogenic 30,233,708(+) CCCAG(C/T)GTCAC intron-variant, reference, missense
rs6169 Benign 30,233,638(+) GTATA(C/T)GAAAC intron-variant, reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for FSHB Gene

Variant ID Type Subtype PubMed ID
nsv553946 CNV loss 21841781
nsv437712 CNV loss 16327808

Variation tolerance for FSHB Gene

Residual Variation Intolerance Score: 53.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.68; 14.43% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FSHB Gene

Human Gene Mutation Database (HGMD)
FSHB
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FSHB

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FSHB Gene

Disorders for FSHB Gene

MalaCards: The human disease database

(10) MalaCards diseases for FSHB Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hypogonadotropic hypogonadism 24 without anosmia
  • follicle-stimulating hormone deficiency, isolated
infertility
hypogonadism
amenorrhea
  • absence of menstruation
azoospermia
  • spermatogenic failure
- elite association - COSMIC cancer census association via MalaCards
Search FSHB in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FSHB_HUMAN
  • Hypogonadotropic hypogonadism 24 without anosmia (HH24) [MIM:229070]: A form of hypogonadotropic hypogonadism, a group of disorders characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. HH24 is characterized by primary amenorrhea in women, oligo or azoospermia with low to normal testosterone levels in men, and infertility. {ECO:0000269 PubMed:8220432, ECO:0000269 PubMed:9271483, ECO:0000269 PubMed:9280841}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for FSHB Gene

delayed puberty,primary amenorrhea,infertility (FSH deficiency,isolated),hypogonadism in man

Relevant External Links for FSHB

Genetic Association Database (GAD)
FSHB
Human Genome Epidemiology (HuGE) Navigator
FSHB
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FSHB
genes like me logo Genes that share disorders with FSHB: view

Publications for FSHB Gene

  1. Increased Prevalance of the -211 T allele of follicle stimulating hormone (FSH) beta subunit promoter polymorphism and lower serum FSH in infertile men. (PMID: 19897680) Grigorova M. … Laan M. (J. Clin. Endocrinol. Metab. 2010) 3 22 46 64
  2. Association of AccI polymorphism in the follicle-stimulating hormone beta gene with polycystic ovary syndrome. (PMID: 11119757) Tong Y. … Ng S.C. (Fertil. Steril. 2000) 3 22 46 64
  3. A reevaluation of the amino acid sequence of human follitropin beta- subunit. (PMID: 3151250) Shome B. … Ward D.N. (J. Protein Chem. 1988) 2 3 4 64
  4. DNA sequence and regional assignment of the human follicle- stimulating hormone beta-subunit gene to the short arm of human chromosome 11. (PMID: 2885163) Watkins P.C. … Shows T.B. (DNA 1987) 2 3 4 64
  5. FoxL2 Is required for activin induction of the mouse and human follicle-stimulating hormone beta-subunit genes. (PMID: 20233786) Corpuz P.S. … Coss D. (Mol. Endocrinol. 2010) 3 22 64

Products for FSHB Gene

Sources for FSHB Gene

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