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

    Gene ID: 2488, updated on 2-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
    mouse all
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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 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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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    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
    		Compare labs

    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)

    Genotypes

    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

    Gene LinkOut

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