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

    Gene ID: 2488, updated on 23-Nov-2023

    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; 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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See FSHB in Genome Data Viewer
    Location:
    11p14.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (30231014..30235194)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (30365200..30369380)
    105.20220307 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 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 Functions

    What's a GeneRIF?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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_000510.4NP_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:17123
      GHB; Glycoprotein hormone beta chain homologues
    2. NM_001018080.3NP_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:17123
      GHB; Glycoprotein hormone beta chain homologues
    3. NM_001382289.1NP_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:17123
      GHB; Glycoprotein hormone beta chain homologues

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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)