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    FST follistatin [ Homo sapiens (human) ]

    Gene ID: 10468, updated on 2-Nov-2024

    Summary

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    Official Symbol
    FSTprovided by HGNC
    Official Full Name
    follistatinprovided by HGNC
    Primary source
    HGNC:HGNC:3971
    See related
    Ensembl:ENSG00000134363 MIM:136470; AllianceGenome:HGNC:3971
    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
    FS
    Summary
    Follistatin is a single-chain gonadal protein that specifically inhibits follicle-stimulating hormone release. The single FST gene encodes two isoforms, FST317 and FST344 containing 317 and 344 amino acids respectively, resulting from alternative splicing of the precursor mRNA. In a study in which 37 candidate genes were tested for linkage and association with polycystic ovary syndrome (PCOS) or hyperandrogenemia in 150 families, evidence was found for linkage between PCOS and follistatin. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in liver (RPKM 13.6), placenta (RPKM 7.9) and 16 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FST in Genome Data Viewer
    Location:
    5q11.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (53480629..53487134)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (54308436..54314946)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (52776459..52782964)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378965 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_86008 Neighboring gene RPL13AP13-RPS19P4 intergenic nontranscribed chromatin-defined enhancer Neighboring gene Sharpr-MPRA regulatory region 15081 Neighboring gene Sharpr-MPRA regulatory region 5487 Neighboring gene ribosomal protein S19 pseudogene 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22546 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:52786330-52787529 Neighboring gene NANOG hESC enhancer GRCh37_chr5:52840750-52841391 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22547 Neighboring gene NADH:ubiquinone oxidoreductase subunit S4 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:52966977-52967961 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:53007961-53008462 Neighboring gene uncharacterized LOC124900975

    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. Circulating follistatin in patients with chronic kidney disease: implications for muscle strength, bone mineral density, inflammation, and survival. Miyamoto T, et al. Clin J Am Soc Nephrol, 2011 May. PMID 21350111, Free PMC Article
    2. Activin A and follistatin in menstrual blood: low concentrations in women with dysfunctional uterine bleeding. Reis FM, et al. Reprod Sci, 2007 May. PMID 17644811
    3. Clinical and Therapeutic Implications of Follistatin in Solid Tumours. Shi L, et al. Cancer Genomics Proteomics, 2016 11-12. PMID 27807065, Free PMC Article
    4. The transgenic expression of human follistatin-344 increases skeletal muscle mass in pigs. Chang F, et al. Transgenic Res, 2017 Feb. PMID 27787698
    5. Follistatin suppresses the production of experimental multiple-organ metastasis by small cell lung cancer cells in natural killer cell-depleted SCID mice. Ogino H, et al. Clin Cancer Res, 2008 Feb 1. PMID 18245525

    See all (145) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Follistatin-respiratory connection predicting all-cause mortality among community-dwelling middle-to-old age individuals: Results from the I-Lan Longitudinal Study.
      Title: Follistatin-respiratory connection predicting all-cause mortality among community-dwelling middle-to-old age individuals: Results from the I-Lan Longitudinal Study.
    2. Potential Utility of Urinary Follistatin as a Non-Invasive Indicator of Acute Tubular Damage in Patients with Acute Kidney Injury.
      Title: Potential Utility of Urinary Follistatin as a Non-Invasive Indicator of Acute Tubular Damage in Patients with Acute Kidney Injury.
    3. Elevated circulating follistatin associates with increased risk of mortality and cardiometabolic disorders.
      Title: Elevated circulating follistatin associates with increased risk of mortality and cardiometabolic disorders.
    4. Low follistatin level is a causal risk factor for spontaneous abortion: a two-sample mendelian randomization study.
      Title: Low follistatin level is a causal risk factor for spontaneous abortion: a two-sample mendelian randomization study.
    5. Follistatin and follistatin-like 3 in metabolic disorders.
      Title: Follistatin and follistatin-like 3 in metabolic disorders.
    6. Follistatin-controlled activin-HNF4alpha-coagulation factor axis in liver progenitor cells determines outcome of acute liver failure.
      Title: Follistatin-controlled activin-HNF4α-coagulation factor axis in liver progenitor cells determines outcome of acute liver failure.
    7. Effects of Roux-en-Y gastric bypass on circulating follistatin, activin A, and peripheral ActRIIB signaling in humans with obesity and type 2 diabetes.
      Title: Effects of Roux-en-Y gastric bypass on circulating follistatin, activin A, and peripheral ActRIIB signaling in humans with obesity and type 2 diabetes.
    8. Identification of frailty and sarcopenia in hospitalised older people.
      Title: Identification of frailty and sarcopenia in hospitalised older people.
    9. Clinical relevance of circulating activin A and follistatin in small cell lung cancer.
      Title: Clinical relevance of circulating activin A and follistatin in small cell lung cancer.
    10. Serum Follistatin Is Increased in Thyroid Cancer and Is Associated With Adverse Tumor Characteristics in Humans.
      Title: Serum Follistatin Is Increased in Thyroid Cancer and Is Associated With Adverse Tumor Characteristics in Humans.
    Submit: New GeneRIF Correction See all GeneRIFs (106)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
    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)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of follistatin (FST) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

    Go to the HIV-1, Human Interaction Database

    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 activin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables activin binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables activin receptor antagonist activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables heparan sulfate proteoglycan binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in BMP signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in ameloblast differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in female gonad development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in gamete generation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in hair follicle morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in hematopoietic progenitor cell differentiation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in keratinocyte proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of activin receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of activin receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of activin receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of epithelial cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in odontogenesis of dentin-containing tooth IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in pattern specification process IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within positive regulation of hair follicle development IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of BMP signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in response to organic cyclic compound IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in skeletal system development IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in extracellular region IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    follistatin
    Names
    activin-binding protein

    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_028911.1 RefSeqGene

      Range
      5196..11701
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_006350.5 → NP_006341.1  follistatin isoform FST317 precursor

      See identical proteins and their annotated locations for NP_006341.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (FST317) uses an alternate splice junction at the 5' end of an exon compared to variant, that causes a frameshift. The resulting isoform (FST317) has a shorter and distinct C-terminus compared to isoform FST344.
      Source sequence(s)
      AC008901, BC004107, BQ949678, DR760015
      Consensus CDS
      CCDS43315.1
      UniProtKB/TrEMBL
      Q6FHE1
      Related
      ENSP00000380151.2, ENST00000396947.7
      Conserved Domains (2) summary
      smart00274
      Location:94 → 117
      FOLN; Follistatin-N-terminal domain-like
      smart00280
      Location:117 → 164
      KAZAL; Kazal type serine protease inhibitors

    2. NM_013409.3 → NP_037541.1  follistatin isoform FST344 precursor

      See identical proteins and their annotated locations for NP_037541.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (FST344) encodes the longer isoform (FST344).
      Source sequence(s)
      AC008901, BC004107, DR760015
      Consensus CDS
      CCDS3959.1
      UniProtKB/Swiss-Prot
      B5BU94, P19883, Q9BTH0
      UniProtKB/TrEMBL
      Q6FHE1
      Related
      ENSP00000256759.3, ENST00000256759.8
      Conserved Domains (2) summary
      smart00274
      Location:94 → 117
      FOLN; Follistatin-N-terminal domain-like
      smart00280
      Location:117 → 164
      KAZAL; Kazal type serine protease inhibitors

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      53480629..53487134
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005248402.5 → XP_005248459.1  follistatin isoform X6

      UniProtKB/TrEMBL
      Q6FHE1
      Conserved Domains (2) summary
      smart00274
      Location:94 → 117
      FOLN; Follistatin-N-terminal domain-like
      smart00280
      Location:117 → 164
      KAZAL; Kazal type serine protease inhibitors

    2. XM_005248400.5 → XP_005248457.1  follistatin isoform X1

      UniProtKB/TrEMBL
      Q6FHE1
      Conserved Domains (2) summary
      smart00274
      Location:94 → 117
      FOLN; Follistatin-N-terminal domain-like
      smart00280
      Location:117 → 164
      KAZAL; Kazal type serine protease inhibitors

    3. XM_047416631.1 → XP_047272587.1  follistatin isoform X7

    4. XM_005248403.5 → XP_005248460.1  follistatin isoform X8

      See identical proteins and their annotated locations for XP_005248460.1

      UniProtKB/TrEMBL
      Q6FHE1
      Conserved Domains (2) summary
      smart00274
      Location:94 → 117
      FOLN; Follistatin-N-terminal domain-like
      smart00280
      Location:117 → 164
      KAZAL; Kazal type serine protease inhibitors

    5. XM_005248401.5 → XP_005248458.1  follistatin isoform X3

      See identical proteins and their annotated locations for XP_005248458.1

      UniProtKB/TrEMBL
      Q6FHE1
      Conserved Domains (2) summary
      smart00274
      Location:94 → 117
      FOLN; Follistatin-N-terminal domain-like
      smart00280
      Location:117 → 164
      KAZAL; Kazal type serine protease inhibitors

    6. XM_017008954.2 → XP_016864443.1  follistatin isoform X5

      UniProtKB/TrEMBL
      Q6FHE1

    7. XM_011543099.3 → XP_011541401.1  follistatin isoform X2

      UniProtKB/TrEMBL
      Q6FHE1
      Conserved Domains (3) summary
      smart00274
      Location:162 → 185
      FOLN; Follistatin-N-terminal domain-like
      smart00280
      Location:112 → 159
      KAZAL; Kazal type serine protease inhibitors
      pfam09289
      Location:90 → 111
      FOLN; Follistatin/Osteonectin-like EGF domain

    8. XM_024454326.2 → XP_024310094.1  follistatin isoform X4

      UniProtKB/TrEMBL
      Q6FHE1
      Conserved Domains (3) summary
      smart00274
      Location:162 → 185
      FOLN; Follistatin-N-terminal domain-like
      smart00280
      Location:112 → 159
      KAZAL; Kazal type serine protease inhibitors
      pfam09289
      Location:90 → 111
      FOLN; Follistatin/Osteonectin-like EGF domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      54308436..54314946
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054351435.1 → XP_054207410.1  follistatin isoform X6

    2. XM_054351430.1 → XP_054207405.1  follistatin isoform X1

    3. XM_054351436.1 → XP_054207411.1  follistatin isoform X7

    4. XM_054351437.1 → XP_054207412.1  follistatin isoform X8

    5. XM_054351432.1 → XP_054207407.1  follistatin isoform X3

    6. XM_054351434.1 → XP_054207409.1  follistatin isoform X5

    7. XM_054351438.1 → XP_054207413.1  follistatin isoform X9

    8. XM_054351439.1 → XP_054207414.1  follistatin isoform X10

    9. XM_054351440.1 → XP_054207415.1  follistatin isoform X11

    10. XM_054351431.1 → XP_054207406.1  follistatin isoform X2

    11. XM_054351433.1 → XP_054207408.1  follistatin isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P19883.2 GenPept UniProtKB/Swiss-Prot:P19883

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