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

Gene ID: 2488, updated on 27-Nov-2024

Summary

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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; AllianceGenome:HGNC:3964
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
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Genomic context

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See FSHB in Genome Data Viewer
Location:
11p14.1
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (30231014..30235194)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (30365200..30369380)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (30252561..30256741)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984321 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:30046639-30047208 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:30047209-30047776 Neighboring gene potassium voltage-gated channel subfamily A member 4 Neighboring gene ARL14EP divergent transcript Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:30077713-30078416 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:30078417-30079118 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:30218865-30220064 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4554 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:30289916-30290416 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3213 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3214 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:30344313-30344918 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3216 Neighboring gene ARF like GTPase 14 effector protein Neighboring gene uncharacterized LOC102723403

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Isolated follicle-stimulating hormone (FSH) deficiency in a young man with normal virilization who did not have mutations in the FSHbeta gene. Mantovani G, et al. Fertil Steril, 2003 Feb. PMID 12568861
  2. The FSHB -211G>T variant attenuates serum FSH levels in the supraphysiological gonadotropin setting of Klinefelter syndrome. Busch AS, et al. Eur J Hum Genet, 2015 May. PMID 25052309, Free PMC Article
  3. Effects of the FSH-β-subunit promoter polymorphism -211G->T on the hypothalamic-pituitary-ovarian axis in normally cycling women indicate a gender-specific regulation of gonadotropin secretion. Schüring AN, et al. J Clin Endocrinol Metab, 2013 Jan. PMID 23118424
  4. Toward a pharmacogenetic approach to male infertility: polymorphism of follicle-stimulating hormone beta-subunit promoter. Ferlin A, et al. Fertil Steril, 2011 Dec. PMID 22000911
  5. Genetically determined dosage of follicle-stimulating hormone (FSH) affects male reproductive parameters. Grigorova M, et al. J Clin Endocrinol Metab, 2011 Sep. PMID 21733993, Free PMC Article

See all (110) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Implication of FSHB rs10835638 variant in endometriosis in Brazilian women.
    Title: Implication of FSHB rs10835638 variant in endometriosis in Brazilian women.
  2. Spontaneous alterations in semen parameters are associated with age, accessory gland function and the FSHB c.-211G>T variant.
    Title: Spontaneous alterations in semen parameters are associated with age, accessory gland function and the FSHB c.-211G>T variant.
  3. Effects of FSHR and FSHB Variants on Hormonal Profile and Reproductive Outcomes of Infertile Women With Endometriosis.
    Title: Effects of FSHR and FSHB Variants on Hormonal Profile and Reproductive Outcomes of Infertile Women With Endometriosis.
  4. A speech planning network for interactive language use.
    Title: A speech planning network for interactive language use.
  5. FSHB Genotype Identified as a Relevant Diagnostic Parameter Revealed by Cluster Analysis of Men With Idiopathic Infertility.
    Title: FSHB Genotype Identified as a Relevant Diagnostic Parameter Revealed by Cluster Analysis of Men With Idiopathic Infertility.
  6. FSHB and FSHR gene variants exert mild modulatory effect on reproductive hormone levels and testis size but not on semen quality: A study of 2020 men from the general Danish population.
    Title: FSHB and FSHR gene variants exert mild modulatory effect on reproductive hormone levels and testis size but not on semen quality: A study of 2020 men from the general Danish population.
  7. Does the FSHB c.-211G>T polymorphism impact Sertoli cell number and the spermatogenic potential in infertile patients?
    Title: Does the FSHB c.-211G>T polymorphism impact Sertoli cell number and the spermatogenic potential in infertile patients?
  8. Role of FSH and FSH receptor on HUVECs migration.
    Title: Role of FSH and FSH receptor on HUVECs migration.
  9. FSHB Transcription is Regulated by a Novel 5' Distal Enhancer With a Fertility-Associated Single Nucleotide Polymorphism.
    Title: FSHB  Transcription is Regulated by a Novel 5' Distal Enhancer With a Fertility-Associated Single Nucleotide Polymorphism.
  10. Clinical and genetic analysis of an isolated follicle-stimulating hormone deficiency female patient.
    Title: Clinical and genetic analysis of an isolated follicle-stimulating hormone deficiency female patient.
Submit: New GeneRIF Correction See all GeneRIFs (73)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Hypogonadotropic hypogonadism 24 without anosmia
MedGen: C5574957 OMIM: 229070 GeneReviews: Not available
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EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

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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)

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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
    4999..9179
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000510.4 → NP_000501.1  follitropin subunit beta precursor

    See identical proteins and their annotated locations for NP_000501.1

    Status: REVIEWED

    Description
    Transcript Variant: Variants 1, 2 and 3 all encode the same protein.
    Source sequence(s)
    AL358944, BI033915, CD108062
    Consensus CDS
    CCDS7868.1
    UniProtKB/Swiss-Prot
    A2TF08, A5JVV3, P01225, Q14D61
    UniProtKB/TrEMBL
    A0A0F7RQE8
    Related
    ENSP00000254122.3, ENST00000254122.8
    Conserved Domains (1) summary
    smart00068
    Location:17 → 123
    GHB; Glycoprotein hormone beta chain homologues

  2. NM_001018080.3 → NP_001018090.1  follitropin subunit beta precursor

    See identical proteins and their annotated locations for NP_001018090.1

    Status: REVIEWED

    Description
    Transcript Variant: Variants 1, 2 and 3 all encode the same protein.
    Source sequence(s)
    AL358944, BI033915, CD108062
    Consensus CDS
    CCDS7868.1
    UniProtKB/Swiss-Prot
    A2TF08, A5JVV3, P01225, Q14D61
    UniProtKB/TrEMBL
    A0A0F7RQE8
    Related
    ENSP00000416606.1, ENST00000417547.1
    Conserved Domains (1) summary
    smart00068
    Location:17 → 123
    GHB; Glycoprotein hormone beta chain homologues

  3. NM_001382289.1 → NP_001369218.1  follitropin subunit beta precursor

    Status: REVIEWED

    Description
    Transcript Variant: Variants 1, 2 and 3 all encode the same protein.
    Source sequence(s)
    AL358944
    Consensus CDS
    CCDS7868.1
    UniProtKB/Swiss-Prot
    A2TF08, A5JVV3, P01225, Q14D61
    UniProtKB/TrEMBL
    A0A0F7RQE8
    Related
    ENSP00000433424.1, ENST00000533718.2
    Conserved Domains (1) summary
    smart00068
    Location:17 → 123
    GHB; Glycoprotein hormone beta chain homologues

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    30231014..30235194
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    30365200..30369380
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P01225.2 GenPept UniProtKB/Swiss-Prot:P01225

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