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-s... See more...

Aliases for FSHB Gene

Aliases for FSHB Gene

  • Follicle Stimulating Hormone Subunit Beta 2 3 5
  • Follicle Stimulating Hormone, Beta Polypeptide 2 3
  • Follitropin Subunit Beta 3 4
  • Follitropin, Beta Chain 2 3
  • FSH-Beta 3 4
  • FSH-B 3 4
  • Follicle Stimulating Hormone Beta Subunit 3
  • Follicle-Stimulating Hormone Beta Subunit 4
  • 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 Subunit Beta) is a Protein Coding gene. Diseases associated with FSHB include Hypogonadotropic Hypogonadism 24 Without Anosmia and Hypogonadism. Among its related pathways are Signaling by GPCR and Development Endothelin-1/EDNRA signaling. Gene Ontology (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 Summary for FSHB Gene

  • Together with the alpha chain CGA constitutes follitropin, the follicle-stimulating hormone, and provides its biological specificity to the hormone heterodimer. Binds FSHR, a G protein-coupled receptor, on target cells to activate downstream signaling pathways (PubMed:2494176, PubMed:24692546). Follitropin is involved in follicle development and spermatogenesis in reproductive organs (PubMed:407105, PubMed:8220432).

Gene Wiki entry for FSHB Gene

Additional gene information for FSHB Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FSHB Gene

Genomics for FSHB Gene

GeneHancer (GH) Regulatory Elements for FSHB Gene

Promoters and enhancers for FSHB Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J030230 Promoter 0.3 EPDnew 500.7 +0.3 309 0.1 FSHB piR-39858-092 ENSG00000254532 LOC105376607
GH11J030206 Enhancer 0.7 ENCODE 11.7 -24.0 -24034 0.9 ZBTB40 EP300 CBFB ARNT MEF2B SPI1 ELF1 IKZF1 EZH2 NFATC3 FSHB ARL14EP piR-61799 piR-35369 ENSG00000254532 LOC105376607
GH11J030197 Enhancer 0.6 Ensembl ENCODE 11.7 -32.6 -32576 1 FOS SETDB1 MYC piR-35369 FSHB ENSG00000255288 ENSG00000254532 LOC105376607
GH11J030196 Enhancer 0.5 ENCODE 11.7 -33.9 -33899 0.2 CTCF RAD21 TRIM22 SMC3 ZNF654 XRCC5 YY1 ZNF143 piR-35369 FSHB ENSG00000255288 ENSG00000254532 LOC105376607
GH11J030280 Enhancer 0.4 Ensembl 11.8 +51.1 51134 1.6 EBF1 IKZF1 SMARCA4 RUNX3 ARL14EP FSHB piR-49322-094 ENSG00000254532 LOC105376607
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FSHB on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FSHB

Top Transcription factor binding sites by QIAGEN in the FSHB gene promoter:
  • CREB
  • deltaCREB
  • FOXJ2
  • FOXJ2 (long isoform)
  • MEF-2A
  • Nkx2-5
  • Sox5
  • SRY

Genomic Locations for FSHB Gene

Genomic Locations for FSHB Gene
chr11:30,230,688-30,235,277
(GRCh38/hg38)
Size:
4,590 bases
Orientation:
Plus strand
chr11:30,252,563-30,256,824
(GRCh37/hg19)
Size:
4,262 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. The active follitropin is a heterodimer composed of an alpha chain/CGA shared with other hormones and a unique beta chain/FSHB shown here.

    Three dimensional structures from OCA and Proteopedia for FSHB Gene

neXtProt entry for FSHB Gene

Post-translational modifications for FSHB Gene

  • Glycosylation at Asn25 and Asn42
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • FSHB_HUMAN (165)

Other Protein References for FSHB Gene

Antibody Products

No data available for DME Specific Peptides for FSHB Gene

Domains & Families for FSHB Gene

Gene Families for FSHB Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted secreted proteins

Protein Domains for FSHB Gene

Blocks:
  • Growth factor cystine knot superfamily signature
  • Gonadotropin, beta chain
  • Cystine knot domain
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FSHB Gene

GenScript: Design optimal peptide antigens:
  • Follitropin beta chain (FSHB_HUMAN)
  • Follicle-stimulating hormone beta subunit (Q1W658_HUMAN)
  • Follicle-stimulating hormone beta subunit (Q27RP3_HUMAN)

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

UniProtKB/Swiss-Prot Function:
Together with the alpha chain CGA constitutes follitropin, the follicle-stimulating hormone, and provides its biological specificity to the hormone heterodimer. Binds FSHR, a G protein-coupled receptor, on target cells to activate downstream signaling pathways (PubMed:2494176, PubMed:24692546). Follitropin is involved in follicle development and spermatogenesis in reproductive organs (PubMed:407105, PubMed:8220432).
GENATLAS Biochemistry:
follicle stimulating hormone,beta polypeptide

Phenotypes From GWAS Catalog for FSHB Gene

Gene Ontology (GO) - Molecular Function for FSHB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005179 contributes_to hormone activity IBA 21873635
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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FSHB

Clone 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. Note=Efficient secretion requires dimerization with CGA. {ECO:0000269 PubMed:2494176}.

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 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
cytosol 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for FSHB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA,IBA 2494176
GO:0005737 cytoplasm IDA,IBA 14602737
GO:0016914 follicle-stimulating hormone complex IDA 2494176
genes like me logo Genes that share ontologies with FSHB: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for FSHB Gene

Pathways & Interactions for FSHB Gene

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

Pathways by source for FSHB Gene

2 GeneGo (Thomson Reuters) pathways for FSHB Gene
  • Development Role of Activin A in cell differentiation and proliferation
  • Transcription_CREM signaling in testis
1 Qiagen pathway for FSHB Gene
  • GnRH Signaling

SIGNOR curated interactions for FSHB Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for FSHB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006701 progesterone biosynthetic process TAS 14557487
GO:0007179 transforming growth factor beta receptor signaling pathway IEP 14557487
GO:0007186 G protein-coupled receptor signaling pathway TAS --
GO:0007292 female gamete generation TAS 8220432
GO:0007565 female pregnancy TAS 8220432
genes like me logo Genes that share ontologies with FSHB: view

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 :
5 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FSHB

Clone 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

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).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FSHB

SOURCE GeneReport for Unigene cluster for FSHB Gene:

Hs.36975

Evidence on tissue expression from TISSUES for FSHB Gene

  • Nervous system(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FSHB Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • endocrine
  • reproductive
  • skeleton
Regions:
Head and neck:
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • pituitary gland
  • skull
Thorax:
  • breast
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • ovary
  • pelvis
  • testicle
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • spinal column
  • vertebrae
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 31 30
  • 98.45 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FSHB 31 30
  • 86.05 (n)
OneToMany
-- 31
  • 85 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Fshb 17 31 30
  • 85.01 (n)
rat
(Rattus norvegicus)
Mammalia Fshb 30
  • 83.98 (n)
dog
(Canis familiaris)
Mammalia FSHB 31 30
  • 79.59 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FSHB 31
  • 70 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FSHB 31
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves FSHB 31 30
  • 72.22 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FSHB 31
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fshb 30
  • 63.82 (n)
zebrafish
(Danio rerio)
Actinopterygii fshb 31 30
  • 55.43 (n)
OneToOne
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)
Aminode:
Evolutionary constrained regions (ECRs) for FSHB: view image

Paralogs for FSHB Gene

Paralogs for FSHB Gene

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

  • FSHB_HUMAN
  • Q1W658_HUMAN
  • Q27RP3_HUMAN

Pseudogenes.org Pseudogenes for FSHB Gene

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

Variants for FSHB Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FSHB Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
733609 Likely Benign: not provided 30,232,033(+) C/G MISSENSE_VARIANT
752051 Likely Benign: not provided 30,231,908(+) G/A SYNONYMOUS_VARIANT
756693 Likely Benign: not provided 30,232,010(+) T/C SYNONYMOUS_VARIANT
rs10835638 Association: isolated follicle-stimulating hormone deficiency 30,230,805(+) G/T
rs121909666 Pathogenic: Follicle-stimulating hormone deficiency, isolated 30,233,692(+) C/A NONSENSE

Additional dbSNP identifiers (rs#s) for FSHB Gene

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

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

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)

Additional Variant Information for FSHB Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for FSHB Gene

MalaCards: The human disease database

(19) MalaCards diseases for FSHB Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hypogonadotropic hypogonadism 24 without anosmia
  • hh24
hypogonadism
infertility
amenorrhea
  • absence of menstruation
hypogonadotropic hypogonadism
  • congenital idiopathic hypogonadotropic hypogonadism
- 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

Additional Disease Information for FSHB

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (The Journal of clinical endocrinology and metabolism 2010) 3 23 41 54
  2. Association of AccI polymorphism in the follicle-stimulating hormone beta gene with polycystic ovary syndrome. (PMID: 11119757) Tong Y … Ng SC (Fertility and sterility 2000) 3 23 41 54
  3. A reevaluation of the amino acid sequence of human follitropin beta-subunit. (PMID: 3151250) Shome B … Ward DN (Journal of protein chemistry 1988) 2 3 4 54
  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 PC … Shows TB (DNA (Mary Ann Liebert, Inc.) 1987) 2 3 4 54
  5. Evidence for Follicle-stimulating Hormone Receptor as a Functional Trimer. (PMID: 24692546) Jiang X … He X (The Journal of biological chemistry 2014) 3 4 54

Products for FSHB Gene

Sources for FSHB Gene