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FSHB follicle stimulating hormone subunit beta [ Homo sapiens (human) ]

Gene ID: 2488, updated on 28-Mar-2019

Summary

Official Symbol
FSHBprovided by HGNC
Official Full Name
follicle stimulating hormone subunit betaprovided by HGNC
Primary source
HGNC:HGNC:3964
See related
Ensembl:ENSG00000131808 MIM:136530
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HH24
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 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]
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See FSHB in Genome Data Viewer
Location:
11p14.1
Exon count:
3
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (30231016..30235277)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (30252563..30256824)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984321 Neighboring gene uncharacterized LOC105376607 Neighboring gene potassium voltage-gated channel subfamily A member 4 Neighboring gene ADP ribosylation factor like GTPase 14 effector protein Neighboring gene uncharacterized LOC102723403

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Follicle-stimulating hormone deficiency, isolated
MedGen: C1856716 OMIM: 229070 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
NHGRI GWA Catalog

Pathways from BioSystems

  • Class A/1 (Rhodopsin-like receptors), organism-specific biosystem (from REACTOME)
    Class A/1 (Rhodopsin-like receptors), organism-specific biosystemRhodopsin-like receptors (class A/1) are the largest group of GPCRs and are the best studied group from a functional and structural point of view. They show great diversity at the sequence level and ...
  • Follicle Stimulating Hormone (FSH) signaling pathway, organism-specific biosystem (from WikiPathways)
    Follicle Stimulating Hormone (FSH) signaling pathway, organism-specific biosystemThe Follicle Stimulating Hormone (FSH) is an anterior pituitary gonadotropin belonging to the family of glycoprotein hormones that includes thyroid stimulating hormone (TSH), Leutinizing Hormone (LH)...
  • G alpha (s) signalling events, organism-specific biosystem (from REACTOME)
    G alpha (s) signalling events, organism-specific biosystemThe general function of the G alpha (s) subunit (Gs) is to activate adenylate cyclase, which in turn produces cAMP, leading to the activation of cAMP-dependent protein kinases (often referred to col...
  • GPCR downstream signaling, organism-specific biosystem (from REACTOME)
    GPCR downstream signaling, organism-specific biosystemG protein-coupled receptors (GPCRs) are classically defined as the receptor, G-protein and downstream effectors, the alpha subunit of the G-protein being the primary signaling molecule. However, it h...
  • GPCR ligand binding, organism-specific biosystem (from REACTOME)
    GPCR ligand binding, organism-specific biosystemThere are more than 800 G-protein coupled receptor (GPCRs) in the human genome, making it the largest receptor superfamily. GPCRs are also the largest class of drug targets, involved in virtually all...
  • Glycoprotein hormones, organism-specific biosystem (from REACTOME)
    Glycoprotein hormones, organism-specific biosystemMore complex protein hormones have carbohydrate side chains and are called glycoprotein hormones. Hormones in this class are Follicle-stimulating hormone (FSH; follitropin), Luteinizing hormone (LH),...
  • GnRH signaling pathway, organism-specific biosystem (from KEGG)
    GnRH signaling pathway, organism-specific biosystemGonadotropin-releasing hormone (GnRH) secretion from the hypothalamus acts upon its receptor in the anterior pituitary to regulate the production and release of the gonadotropins, LH and FSH. The GnR...
  • GnRH signaling pathway, conserved biosystem (from KEGG)
    GnRH signaling pathway, conserved biosystemGonadotropin-releasing hormone (GnRH) secretion from the hypothalamus acts upon its receptor in the anterior pituitary to regulate the production and release of the gonadotropins, LH and FSH. The GnR...
  • Hormone ligand-binding receptors, organism-specific biosystem (from REACTOME)
    Hormone ligand-binding receptors, organism-specific biosystemThe class A (rhodopsin-like) GPCRs that bind to hormone ligands are annotated here. The hormones follicle-stimulating hormone (FSH), luteinizing hormone (LH), thyroid-stimulating hormone (TSH) and hu...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • Neuroactive ligand-receptor interaction, organism-specific biosystem (from KEGG)
    Neuroactive ligand-receptor interaction, organism-specific biosystem
    Neuroactive ligand-receptor interaction
  • Neuroactive ligand-receptor interaction, conserved biosystem (from KEGG)
    Neuroactive ligand-receptor interaction, conserved biosystem
    Neuroactive ligand-receptor interaction
  • Ovarian steroidogenesis, organism-specific biosystem (from KEGG)
    Ovarian steroidogenesis, organism-specific biosystemThe ovarian steroids, 17-beta estradiol (E2) and progesterone (P4), are critical for normal uterine function, establishment and maintenance of pregnancy, and mammary gland development. Furthermore, t...
  • Ovarian steroidogenesis, conserved biosystem (from KEGG)
    Ovarian steroidogenesis, conserved biosystemThe ovarian steroids, 17-beta estradiol (E2) and progesterone (P4), are critical for normal uterine function, establishment and maintenance of pregnancy, and mammary gland development. Furthermore, t...
  • Peptide hormone biosynthesis, organism-specific biosystem (from REACTOME)
    Peptide hormone biosynthesis, organism-specific biosystemPeptide hormones are peptides that are secreted directly into the blood stream (endocrine hormones). They are synthesized as precursors that require proteolytic processing (not discussed here) to gen...
  • Peptide hormone metabolism, organism-specific biosystem (from REACTOME)
    Peptide hormone metabolism, organism-specific biosystemPeptide hormones are cleaved from larger precursors in the secretory system (endoplasmic reticulum, Golgi apparatus, secretory granules) of the cell. After secretion peptide hormones are modified and...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by GPCR, organism-specific biosystem (from REACTOME)
    Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...
  • cAMP signaling pathway, organism-specific biosystem (from KEGG)
    cAMP signaling pathway, organism-specific biosystemcAMP is one of the most common and universal second messengers, and its formation is promoted by adenylyl cyclase (AC) activation after ligation of G protein-coupled receptors (GPCRs) by ligands incl...
  • cAMP signaling pathway, conserved biosystem (from KEGG)
    cAMP signaling pathway, conserved biosystemcAMP is one of the most common and universal second messengers, and its formation is promoted by adenylyl cyclase (AC) activation after ligation of G protein-coupled receptors (GPCRs) by ligands incl...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
follicle-stimulating hormone activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
follicle-stimulating hormone activity IDA
Inferred from Direct Assay
more info
PubMed 
follicle-stimulating hormone activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
contributes_to hormone activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
G protein-coupled receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
G protein-coupled receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
 
Sertoli cell proliferation IEA
Inferred from Electronic Annotation
more info
 
female gamete generation TAS
Traceable Author Statement
more info
PubMed 
female pregnancy TAS
Traceable Author Statement
more info
PubMed 
follicle-stimulating hormone signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
hormone-mediated signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peptide hormone processing TAS
Traceable Author Statement
more info
 
positive regulation of bone resorption IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cell migration NAS
Non-traceable Author Statement
more info
PubMed 
positive regulation of cell proliferation NAS
Non-traceable Author Statement
more info
PubMed 
positive regulation of steroid biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription by RNA polymerase II NAS
Non-traceable Author Statement
more info
PubMed 
progesterone biosynthetic process TAS
Traceable Author Statement
more info
PubMed 
regulation of osteoclast differentiation IEA
Inferred from Electronic Annotation
more info
 
regulation of signaling receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
transforming growth factor beta receptor signaling pathway IEP
Inferred from Expression Pattern
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
extracellular region NAS
Non-traceable Author Statement
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
follicle-stimulating hormone complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
follitropin subunit beta
Names
FSH-B
FSH-beta
follicle stimulating hormone beta subunit
follicle stimulating hormone, beta polypeptide
follitropin, beta chain

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008144.1 RefSeqGene

    Range
    5001..9262
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000510.2NP_000501.1  follitropin subunit beta precursor

    See identical proteins and their annotated locations for NP_000501.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AL358944, BI033915, CD108062
    Consensus CDS
    CCDS7868.1
    UniProtKB/Swiss-Prot
    P01225
    UniProtKB/TrEMBL
    A0A0F7RQE8
    Related
    ENSP00000254122.3, ENST00000254122.7
    Conserved Domains (1) summary
    smart00068
    Location:17123
    GHB; Glycoprotein hormone beta chain homologues
  2. NM_001018080.1NP_001018090.1  follitropin subunit beta precursor

    See identical proteins and their annotated locations for NP_001018090.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AL358944, BI033915, CD108062
    Consensus CDS
    CCDS7868.1
    UniProtKB/Swiss-Prot
    P01225
    UniProtKB/TrEMBL
    A0A0F7RQE8
    Related
    ENSP00000416606.1, ENST00000417547.1
    Conserved Domains (1) summary
    smart00068
    Location:17123
    GHB; Glycoprotein hormone beta chain homologues

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

    Range
    30231016..30235277
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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