FBN3: Polycystic Ovarian Syndrome Database

This gene encodes a memebr of the fibrillin protein family. Fibrillins are extracellular matrix molecules that assemble into microfibrils in many connective tissues. This gene is most highly expressed in fetal tissues and its protein product is localized to extracellular microfibrils of developing skeletal elements, skin, lung, kidney, and skeletal muscle. This gene is potentially involved in Weill-Marchesani syndrome. [provided by RefSeq, Mar 2016]

e!Ensembl

Gene	ENSG00000142449
Transcript	ENST00000651877, ENST00000600128, ENST00000270509, ENST00000601739, ENST00000601281, ENST00000602121
Protein	ENSP00000498507, ENSP00000470498, ENSP00000270509, ENSP00000472324, ENSP00000472729, ENSP00000469256

SNPs

SNP Id	Upstream Sequence	SNP	Downstream Sequence	Functional Significance	References
		D19S884			20200332

Gene Ontology (GO)

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GO ID	Ontology	Function	Evidence	Reference
GO:0031012	Cellular component	Extracellular matrix	IBA	21873635
GO:0005201	Molecular function	Extracellular matrix structural constituent	IBA	21873635

Protein Information

Protein Name

Fibrillin-3

Function

[Fibrillin-3]: Fibrillins are structural components of 10-12 nm extracellular calcium-binding microfibrils, which occur either in association with elastin or in elastin-free bundles. Fibrillin-containing microfibrils provide long-term force bearing structural support.

UniProt

Q75N90

Pfam

Pfam Accession	Pfam ID
PF12662	cEGF
PF07645	EGF_CA
PF12661	hEGF
PF00683	TB

Pathways
	Reactome
		Degradation of the extracellular matrix Elastic fibre formation Molecules associated with elastic fibres

Interactions

STRING	MINT	IntAct
ENSP00000341785	Q96A54	Q96A54

View interactions

Associated Diseases

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Disease group	Disease Name	References
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
	Arthrogryposis	26752647
	Marfan Syndrome	22921888, 15221638
Endocrine System Diseases
Endocrine System Diseases	PCOS	20200332, 25422352, 22301903, 19692420
Musculoskeletal Diseases
Musculoskeletal Diseases	Scoliosis	19192405
Respiratory Tract Diseases
Respiratory Tract Diseases	Chronic Obstructive Pulmonary Disease	29263660

References

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PubMed ID	Associated gene/s	Associated condition	Genetic Mutation	Diagnostic Criteria	Association with PCOS	Ethnicity	Conclusion
19692420				NIH criteria	Related	173 PCOS patients and 194 controls	The study concludes that FBN3 appears to have little involvement in PCOS but cannot rule out that other markers in the region of chromosome 19p13.2 are associated with PCOS or that FBN3 expression occurs in other organs and that this may be influencing the PCOS phenotype.
19692420	FBN1, FBN2, LTBP-1, LTBP-2, D19S884			NIH criteria	Related	367 (173 PCOS, 194 controls)	FBN3 may or may not play a minor role in PCOS pathogenesis
23265956			variants in the D19S884	Rotterdam criteria	Direct	272 PCOS women and 271 controls	Association of the D19S884 marker with PCOS identified that A8 may increase susceptibility to PCOS
20855553				Rotterdam criteria	Direct	21 controls and 9 patients with PCOS	Loss of fibrillin-3 during folliculogenesis may be an important factor in PCOS pathogenesis
17785364			varient in gene	PCOS was diagnosed by a history of six or fewer menses per year and elevated levels of total testosterone or non-SHBG-bound testosterone (uT)	Direct	601 women with PCOS and 168 brothers of affected women	These findings strongly suggest that A8 of D19S884 is the chromosome 19p13.2 PCOS susceptibility locus. The association of D19S884 with markers of insulin resistance and pancreatic beta-cell dysfunction suggests that the same variant contributes to the reproductive and metabolic abnormalities of PCOS in affected women and their brothers.
20200332			varient in D19S884	Elevation of circulating androgen levels, either testosterone (T) or nonsex hormone-binding globulin-bound testosterone (uT) associated with chronic oligomenorrhea (6 menses per year) or amenorrhea	Direct	There was a total of 502 probands and sisters with PCOS	A polymorphic variant, D19S884, in FBN3 is associated with risk of PCOS
20630504	TGF- and inhibin B		variants in gene	NIH criteria	Related	40 women (A8- PCOS) with 40 women (A8+ PCOS) and 40 normally menstruating women	Allele8- PCOS is associated with higher levels of TGF-1 compared with A8+ PCOS or A8- Non-PCOS, similar levels of TGF-2 compared with A8+ PCOS but lower levels of TGF-2 compared with A8- Non-PCOS, and lower levels of inhibin B and aldosterone compared with A8+ PCOS.
22301903	TCF7L2		rs11196236 G TCF7L2 variant	NICHD criteria	Related	31 PCOS and 18 control women of European ancestry	The FBN3 risk allele may be associated with changes in basal glucose homeostasis in PCOS. These findings require replication in additional PCOS cohorts.

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