Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 10468
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary
Gene Symbol FST   Gene   UCSC   Ensembl
Aliases FS
Gene name follistatin
Alternate names follistatin, activin-binding protein, follistatin isoform FST317,
Gene location 5q11.2 (53480337: 53487133)     Exons: 9     NC_000005.10
Gene summary(Entrez) 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]
OMIM 136470

Protein Summary
Protein general information P19883  

Name: Follistatin (FS) (Activin binding protein)

Length: 344  Mass: 38,007

Tissue specificity: Isoform 1 is the predominant isoform in serum but is undetectable in follicular fluid. {ECO

Sequence MVRARHQPGGLCLLLLLLCQFMEDRSAQAGNCWLRQAKNGRCQVLYKTELSKEECCSTGRLSTSWTEEDVNDNTL
FKWMIFNGGAPNCIPCKETCENVDCGPGKKCRMNKKNKPRCVCAPDCSNITWKGPVCGLDGKTYRNECALLKARC
KEQPELEVQYQGRCKKTCRDVFCPGSSTCVVDQTNNAYCVTCNRICPEPASSEQYLCGNDGVTYSSACHLRKATC
LLGRSIGLAYEGKCIKAKSCEDIQCTGGKKCLWDFKVGRGRCSLCDELCPDSKSDEPVCASDNATYASECAMKEA
ACSSGVLLEVKHSGSCNSISEDTEEEEEDEDQDYSFPISSILEW
Structural information
Protein Domains
 TB. (30-103)
Follistatin-like (94-117)
Kazal-like (112-166)
Follistatin-like (167-190)
Kazal-like (186-241)
Interpro:  IPR003645 IPR015369 IPR002350 IPR017878
Prosite:   PS51465 PS51364

Pfam:  		 PF09289 PF07648

PDB:  		 2B0U 2P6A 3HH2 5JHW
PDBsum:   2B0U 2P6A 3HH2 5JHW
MINT:   3009113
STRING:   ENSP00000256759;
Other Databases GeneCards:  FST;  Malacards:  FST

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
 IDA biological_process
GO:0002244 hematopoietic progenitor
cell differentiation
 IDA biological_process
GO:0004871 signal transducer activit
y
 NAS molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005576 extracellular region
 TAS cellular_component
GO:0007165 signal transduction
 IEA biological_process
GO:0032926 negative regulation of ac
tivin receptor signaling
pathway
 IDA biological_process
GO:0032926 negative regulation of ac
tivin receptor signaling
pathway
 IDA biological_process
GO:0043395 heparan sulfate proteogly
can binding
 IEA molecular_function
GO:0048185 activin binding
 IPI molecular_function
GO:0051798 positive regulation of ha
ir follicle development
 IDA biological_process
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
 IDA biological_process
GO:0002244 hematopoietic progenitor
cell differentiation
 IDA biological_process
GO:0004871 signal transducer activit
y
 NAS molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005576 extracellular region
 IEA cellular_component
GO:0005576 extracellular region
 IEA cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0007165 signal transduction
 IEA biological_process
GO:0032926 negative regulation of ac
tivin receptor signaling
pathway
 IDA biological_process
GO:0032926 negative regulation of ac
tivin receptor signaling
pathway
 IDA biological_process
GO:0043395 heparan sulfate proteogly
can binding
 IEA molecular_function
GO:0048185 activin binding
 IPI molecular_function
GO:0051798 positive regulation of ha
ir follicle development
 IDA biological_process
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
 IDA biological_process
GO:0002244 hematopoietic progenitor
cell differentiation
 IDA biological_process
GO:0004871 signal transducer activit
y
 NAS molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005576 extracellular region
 TAS cellular_component
GO:0032926 negative regulation of ac
tivin receptor signaling
pathway
 IDA biological_process
GO:0032926 negative regulation of ac
tivin receptor signaling
pathway
 IDA biological_process
GO:0048185 activin binding
 IPI molecular_function
GO:0051798 positive regulation of ha
ir follicle development
 IDA biological_process

KEGG pathways

hsa04350  TGF-beta signaling pathway

Diseases

Associated diseases References
Disorders of spermatogenesis PMID: 11275954
Endometriosis PMID: 22416010
Implantation failure PMID: 18271891
Ovarian endometriosis PMID: 17296189
Ovarian endometriosis PMID: 17296189
Ovarian endometriosis PMID: 19549703
Polycystic ovary syndrome (PCOS) PMID: 10871644
Premature ovarian failure ( POF) PMID: 23113792
Deep infiltrating endometriosis INFBASE22416010
Endometriosis INFBASE21496809
Ovarian endometriosis INFBASE19549703
Ovarian endometriosis INFBASE17296189

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
22416010 Endometrio
sis
214 (139 women
with endometrio
sis (28 periton
eal endometrios
is, 61 ovarian
endometrioma, 5
0 deep infiltra
ting endometrio
sis), 75 contro
ls)
 Activin A
follistatin
 Show abstract
17296189 Endometrio
sis (ovari
an)
34 (16 ovarian
endometriotic c
ysts, 18 contro
ls)
 FLRG
 Show abstract
19549703 Endometrio
sis (ovari
an)
142 (52 ovarian
endometrioma,
52 benign ovari
an cysts, 11 no
n-ovarian endom
etriosis, 27 co
ntrols)
 FST
 Show abstract
21496809 Endometrio
sis
96 (48 women wi
th endometrioma
, 48 women with
out endometrios
is)
 activin A
cripto
follistatin
 Show abstract