FBN3 (fibrillin 3)

2014-08-01  

Identity

HGNC
FBN3
LOCATION
19p13.2
LOCUSID
84467
ALIAS
-
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
N/A

References

Pubmed IDYearTitleCitations
390644902024Genetic Insights into Skeletal Malocclusion: The Role of the FBN3 rs7351083 SNP in the Romanian Population.0
390644902024Genetic Insights into Skeletal Malocclusion: The Role of the FBN3 rs7351083 SNP in the Romanian Population.0
351419852022Further delineation of familial polycystic ovary syndrome (PCOS) via whole-exome sequencing: PCOS-related rare FBN3 and FN1 gene variants are identified.3
351419852022Further delineation of familial polycystic ovary syndrome (PCOS) via whole-exome sequencing: PCOS-related rare FBN3 and FN1 gene variants are identified.3
232659562013Microsatellite polymorphism in the fibrillin 3 gene and susceptibility to PCOS: a case-control study and meta-analysis.6
232659562013Microsatellite polymorphism in the fibrillin 3 gene and susceptibility to PCOS: a case-control study and meta-analysis.6
223019032012Association of fibrillin-3 and transcription factor-7-like 2 gene variants with metabolic phenotypes in PCOS.7
223019032012Association of fibrillin-3 and transcription factor-7-like 2 gene variants with metabolic phenotypes in PCOS.7
209705002011Fibrillin-3 expression in human development.35
214117462011Linkage of regulators of TGF-β activity in the fetal ovary to polycystic ovary syndrome.44
209705002011Fibrillin-3 expression in human development.35
214117462011Linkage of regulators of TGF-β activity in the fetal ovary to polycystic ovary syndrome.44
202003322010Family-based analysis of candidate genes for polycystic ovary syndrome.47
202003322010Family-based analysis of candidate genes for polycystic ovary syndrome.47
206305042010A 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)