Gene Gene information from NCBI Gene database.
Entrez ID 2488
Gene name Follicle stimulating hormone subunit beta
Gene symbol FSHB
Synonyms (NCBI Gene)
HH24
Chromosome 11
Chromosome location 11p14.1
Summary 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 sub
miRNA miRNA information provided by mirtarbase database.
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miRTarBase ID miRNA Experiments Reference
MIRT643776 hsa-miR-500a-5p HITS-CLIP 23824327
MIRT643775 hsa-miR-501-5p HITS-CLIP 23824327
MIRT643774 hsa-miR-4762-5p HITS-CLIP 23824327
MIRT643773 hsa-miR-3121-5p HITS-CLIP 23824327
MIRT643772 hsa-miR-616-3p HITS-CLIP 23824327
Transcription factors Transcription factors information provided by TRRUST V2 database.
5
Transcription factor Regulation Reference
FOXO1 Repression 24065703
LHX3 Activation 23766128
LHX3 Unknown 15271874
PITX1 Unknown 18339718
PITX2 Unknown 18339718
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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GO ID Ontology Definition Evidence Reference
GO:0001541 Process Ovarian follicle development IEA
GO:0005102 Function Signaling receptor binding IEA
GO:0005179 Function Hormone activity IEA
GO:0005515 Function Protein binding IPI 11222739, 15662415, 22802634
GO:0005576 Component Extracellular region IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
136530 3964 ENSG00000131808
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P01225
Protein name Follitropin subunit beta (Follicle-stimulating hormone beta subunit) (FSH-B) (FSH-beta) (Follitropin beta chain)
Protein 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 sig
PDB 1FL7 , 1XWD , 4AY9 , 4MQW , 8I2G
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00007 Cys_knot 18 122 Cystine-knot domain Domain
Sequence
Sequence length 129
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  cAMP signaling pathway
Neuroactive ligand-receptor interaction
Hormone signaling
GnRH signaling pathway
Ovarian steroidogenesis
  Glycoprotein hormones
Hormone ligand-binding receptors
G alpha (s) signalling events
ADORA2B mediated anti-inflammatory cytokines production
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hypogonadotropic hypogonadism 24 without anosmia Pathogenic; Likely pathogenic rs5030777, rs5030646, rs5030776, rs121909666, rs374623109 RCV000169745
RCV000017627
RCV000017628
RCV000017629
RCV000497015
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
FSHB-related disorder Conflicting classifications of pathogenicity; Likely benign rs6170, rs779337728 RCV003897692
RCV003959595
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenoma Associate 2824561
Alopecia Associate 35279334
Azoospermia Associate 32096339
Depressive Disorder Associate 37544299
Dysmenorrhea Associate 11119757
Endometriosis Associate 26732621, 28901453, 34659133, 36430184, 37909652
Follicle stimulating hormone deficiency isolated Associate 18402948, 30602350, 32367462
Genital Diseases Female Associate 26732621
Hypogonadism Associate 26445243
Idiopathic Hypogonadotropic Hypogonadism Associate 1730329