FST follistatin [Homo sapiens (human)] - Gene

Summary

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

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_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
Follistatin and follistatin-like 3 in metabolic disorders.
Title: Follistatin and follistatin-like 3 in metabolic disorders.
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.
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.
Identification of frailty and sarcopenia in hospitalised older people.
Title: Identification of frailty and sarcopenia in hospitalised older people.
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.
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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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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 EBI GWAS CatalogPubMed

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

FST (e-PCR)
- UniSTS:253978

Fst (e-PCR), detects polymorphism
- UniSTS:143144

FST (e-PCR)
- UniSTS:264014

SGC33112 (e-PCR)
- UniSTS:12374

Fst (e-PCR), detects polymorphism
- UniSTS:480345

FST (e-PCR)
- UniSTS:479885

FST (e-PCR)
- UniSTS:505761

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

NG_028911.1 RefSeqGene

Range

5196..11701

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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

NC_000005.10 Reference GRCh38.p14 Primary Assembly

Range

53480629..53487134

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
XM_047416631.1 → XP_047272587.1 follistatin isoform X7
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
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
XM_017008954.2 → XP_016864443.1 follistatin isoform X5

UniProtKB/TrEMBL

Q6FHE1
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
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