FBN3 (fibrillin 3)

2014-08-01  

Identity

HGNC
LOCATION
19p13.2
LOCUSID
ALIAS
-
FUSION GENES

Other Information

Locus ID:

NCBI: 84467
MIM: 608529
HGNC: 18794
Ensembl: ENSG00000142449

Variants:

dbSNP: 84467
ClinVar: 84467
TCGA: ENSG00000142449
COSMIC: FBN3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000142449ENST00000270509Q75N90
ENSG00000142449ENST00000600128Q75N90
ENSG00000142449ENST00000601281M0R2Q5
ENSG00000142449ENST00000601739Q75N90
ENSG00000142449ENST00000602121M0QXL8
ENSG00000142449ENST00000651877A0A494C0D8

Expression (GTEx)

0
1
2
3
4
5

Pathways

PathwaySourceExternal ID
Extracellular matrix organizationREACTOMER-HSA-1474244
Elastic fibre formationREACTOMER-HSA-1566948

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
177853642007Identification of a polycystic ovary syndrome susceptibility variant in fibrillin-3 and association with a metabolic phenotype.47
177853642007Identification of a polycystic ovary syndrome susceptibility variant in fibrillin-3 and association with a metabolic phenotype.47
202003322010Family-based analysis of candidate genes for polycystic ovary syndrome.40
202003322010Family-based analysis of candidate genes for polycystic ovary syndrome.40
214117462011Linkage of regulators of TGF-β activity in the fetal ovary to polycystic ovary syndrome.29
209705002011Fibrillin-3 expression in human development.25
196924202009Genetic and gene expression analyses of the polycystic ovary syndrome candidate gene fibrillin-3 and other fibrillin family members in human ovaries.15
196924202009Genetic and gene expression analyses of the polycystic ovary syndrome candidate gene fibrillin-3 and other fibrillin family members in human ovaries.15
206305042010A variant in the fibrillin-3 gene is associated with TGF-β and inhibin B levels in women with polycystic ovary syndrome.14
206305042010A variant in the fibrillin-3 gene is associated with TGF-β and inhibin B levels in women with polycystic ovary syndrome.14

Citation

Dessen P

FBN3 (fibrillin 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54312/fbn3