FBN1 (fibrillin 1)

2007-02-01  

Identity

HGNC
LOCATION
15q21.1
LOCUSID
ALIAS
ACMICD,ECTOL1,FBN,GPHYSD2,MASS,MFLS,MFS1,OCTD,SGS,SSKS,WMS,WMS2
FUSION GENES

Other Information

Locus ID:

NCBI: 2200
MIM: 134797
HGNC: 3603
Ensembl: ENSG00000166147

Variants:

dbSNP: 2200
ClinVar: 2200
TCGA: ENSG00000166147
COSMIC: FBN1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000166147ENST00000316623P35555
ENSG00000166147ENST00000537463F6U495
ENSG00000166147ENST00000559133H0YND0
ENSG00000166147ENST00000560355H0YN80

Expression (GTEx)

0
50
100
150
200
250
300

Pathways

PathwaySourceExternal ID
Extracellular matrix organizationREACTOMER-HSA-1474244
Elastic fibre formationREACTOMER-HSA-1566948
Integrin cell surface interactionsREACTOMER-HSA-216083

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA161907438Thoracic Aortic Aneurysms and Dissections (TAAD)DiseaseDataAnnotationassociated
PA166123310loeys-dietz syndromeDiseaseDataAnnotationassociated
PA24456ACTA2GeneDataAnnotationassociated
PA30526SMAD3GeneDataAnnotationassociated
PA31367MYH11GeneDataAnnotationassociated
PA31388MYLKGeneDataAnnotationassociated
PA36485TGFBR1GeneDataAnnotationassociated
PA36486TGFBR2GeneDataAnnotationassociated
PA444552HypertensionDiseaseLiterature, MultilinkAnnotationassociated24560520
PA444880Marfan SyndromeDiseaseDataAnnotationassociated

References

Pubmed IDYearTitleCitations
124297382003Latent transforming growth factor beta-binding protein 1 interacts with fibrillin and is a microfibril-associated protein.165
152545842004Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome.128
177018922007Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study.116
183396312008Targeting of bone morphogenetic protein growth factor complexes to fibrillin.86
190371002009Fibrillin assembly requires fibronectin.85
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
172420662007Fibrillin-1 regulates the bioavailability of TGFbeta1.72
125255392003In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome.71
203750042010Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome.68
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62

Citation

Dessen P

FBN1 (fibrillin 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/43778/fbn1