FSTL3

protein-coding

follistatin like 3

Gene summary

Follistatin-like 3 is a secreted glycoprotein of the follistatin-module-protein family. It may have a role in leukemogenesis. [provided by RefSeq, Jul 2008]

MANE transcript

NM_005860.3

Inheritance

—

ClinVar variants

U:52B:3

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.12

Max pathogenic AF

—

Genomic locus

chr19:676,392-683,392

External References & Databases

Ensembl (ENSG00000070404)

Transcript & Mutation Effects

hg38 • Region Span ~7.0 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to FSTL3 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 52

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_005860.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar			1
missense			49 clinvar	3 clinvar		52
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	52	3	0	55

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 20 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_005860.3	RefSeq	NP_005851.1	5	MANE Select
ENST00000166139.9	Ensembl	ENSP00000166139.3	5	MANE Select
ENST00000588773.5	Ensembl	ENSP00000466383.2	2	Standard
ENST00000588773.6	Ensembl	ENSP00000466383.2	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Signal Transduction
Antagonism of Activin by Follistatin
Signaling by Activin
Post-translational protein phosphorylation
Post-translational protein modification

Biological Process

ossification
kidney development
hematopoietic progenitor cell differentiation
regulation of transcription by RNA polymerase II
spermatogenesis

Molecular Function

fibronectin binding
protein binding
activin binding

Cellular Component

extracellular region
extracellular space
nucleus
nucleoplasm
endoplasmic reticulum lumen

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000166139
Coding exons: 5
Length: 6994
Individuals with no LoFs: 125511
Homozygous LoFs: 0
Heterozygous LoFs: 2
Defined: 125513
p: 0.00000797

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.57	74	123	0.601	0.00000783	1636
Missense (PolyPhen)		14	49.464	0.28304		595
Synonymous	-0.188	59	57.2	1.03	0.00000434	531
Loss of Function	2.31	1	8.09	0.124	4.13e-7	111

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000055	0.000054	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0	0.0	absent
South Asian	0.000033	0.000033	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Isoform 1 or the secreted form is a binding and antagonizing protein for members of the TGF-beta family, such us activin, BMP2 and MSTN. Inhibits activin A-, activin B-, BMP2- and MSDT-induced cellular signaling; more effective on activin A than on activin B. Involved in bone formation; inhibits osteoclast differentiationc. Involved in hematopoiesis; involved in differentiation of hemopoietic progenitor cells, increases hematopoietic cell adhesion to fibronectin and seems to contribute to the adhesion of hematopoietic precursor cells to the bone marrow stroma. Isoform 2 or the nuclear form is probably involved in transcriptional regulation via interaction with MLLT10. {ECO:0000269|PubMed:11948405, ECO:0000269|PubMed:15451575, ECO:0000269|PubMed:15574124, ECO:0000269|PubMed:16336961, ECO:0000269|PubMed:17868029, ECO:0000269|PubMed:17878677}.;

Recessive Scores

pRec: 0.148

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.528

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium