Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 84467
MIM: 608529
HGNC: 18794
Ensembl: ENSG00000142449
Variants:
dbSNP: 84467
ClinVar: 84467
TCGA: ENSG00000142449
COSMIC: FBN3
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Extracellular matrix organization | REACTOME | R-HSA-1474244 |
| Elastic fibre formation | REACTOME | R-HSA-1566948 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 39064490 | 2024 | Genetic Insights into Skeletal Malocclusion: The Role of the FBN3 rs7351083 SNP in the Romanian Population. | 0 |
| 39064490 | 2024 | Genetic Insights into Skeletal Malocclusion: The Role of the FBN3 rs7351083 SNP in the Romanian Population. | 0 |
| 35141985 | 2022 | Further delineation of familial polycystic ovary syndrome (PCOS) via whole-exome sequencing: PCOS-related rare FBN3 and FN1 gene variants are identified. | 3 |
| 35141985 | 2022 | Further delineation of familial polycystic ovary syndrome (PCOS) via whole-exome sequencing: PCOS-related rare FBN3 and FN1 gene variants are identified. | 3 |
| 23265956 | 2013 | Microsatellite polymorphism in the fibrillin 3 gene and susceptibility to PCOS: a case-control study and meta-analysis. | 6 |
| 23265956 | 2013 | Microsatellite polymorphism in the fibrillin 3 gene and susceptibility to PCOS: a case-control study and meta-analysis. | 6 |
| 22301903 | 2012 | Association of fibrillin-3 and transcription factor-7-like 2 gene variants with metabolic phenotypes in PCOS. | 7 |
| 22301903 | 2012 | Association of fibrillin-3 and transcription factor-7-like 2 gene variants with metabolic phenotypes in PCOS. | 7 |
| 20970500 | 2011 | Fibrillin-3 expression in human development. | 35 |
| 21411746 | 2011 | Linkage of regulators of TGF-β activity in the fetal ovary to polycystic ovary syndrome. | 44 |
| 20970500 | 2011 | Fibrillin-3 expression in human development. | 35 |
| 21411746 | 2011 | Linkage of regulators of TGF-β activity in the fetal ovary to polycystic ovary syndrome. | 44 |
| 20200332 | 2010 | Family-based analysis of candidate genes for polycystic ovary syndrome. | 47 |
| 20200332 | 2010 | Family-based analysis of candidate genes for polycystic ovary syndrome. | 47 |
| 20630504 | 2010 | A variant in the fibrillin-3 gene is associated with TGF-β and inhibin B levels in women with polycystic ovary syndrome. | 24 |
Citation
Dessen P
FBN3 (fibrillin 3)
Atlas Genet Cytogenet Oncol Haematol. 2014-08-01
Online version: http://atlasgeneticsoncology.org/gene/54312/fbn3-(fibrillin-3)
