Identity
HGNC
LOCATION
15q21.1
LOCUSID
ALIAS
ACMICD,ECTOL1,FBN,GPHYSD2,MASS,MFLS,MFS1,OCTD,SGS,SSKS,WMS,WMS2
FUSION GENES
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: 2200
MIM: 134797
HGNC: 3603
Ensembl: ENSG00000166147
Variants:
dbSNP: 2200
ClinVar: 2200
TCGA: ENSG00000166147
COSMIC: FBN1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000166147 | ENST00000316623 | P35555 |
| ENSG00000166147 | ENST00000537463 | F6U495 |
| ENSG00000166147 | ENST00000559133 | H0YND0 |
| ENSG00000166147 | ENST00000560355 | H0YN80 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Extracellular matrix organization | REACTOME | R-HSA-1474244 |
| Elastic fibre formation | REACTOME | R-HSA-1566948 |
| Integrin cell surface interactions | REACTOME | R-HSA-216083 |
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA161907438 | Thoracic Aortic Aneurysms and Dissections (TAAD) | Disease | DataAnnotation | associated | |||
| PA166123310 | loeys-dietz syndrome | Disease | DataAnnotation | associated | |||
| PA24456 | ACTA2 | Gene | DataAnnotation | associated | |||
| PA30526 | SMAD3 | Gene | DataAnnotation | associated | |||
| PA31367 | MYH11 | Gene | DataAnnotation | associated | |||
| PA31388 | MYLK | Gene | DataAnnotation | associated | |||
| PA36485 | TGFBR1 | Gene | DataAnnotation | associated | |||
| PA36486 | TGFBR2 | Gene | DataAnnotation | associated | |||
| PA444552 | Hypertension | Disease | Literature, MultilinkAnnotation | associated | 24560520 | ||
| PA444880 | Marfan Syndrome | Disease | DataAnnotation | associated |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37684520 | 2024 | A population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndrome. | 3 |
| 37840311 | 2024 | Re-evaluation of a Fibrillin-1 Gene Variant of Uncertain Significance Using the ClinGen Guidelines. | 0 |
| 38192243 | 2024 | Role of asprosin and meteorin-like peptide in progression of actinic keratosis to squamous cell carcinoma. | 0 |
| 38217801 | 2024 | Salivary and serum asprosin hormone levels in the 2018 EFP/AAP classification of periodontitis stages and body mass index status: a case-control study. | 0 |
| 38234087 | 2024 | Overcoming challenges associated with identifying FBN1 deep intronic variants through whole-genome sequencing. | 1 |
| 38317175 | 2024 | Identification of two novel large deletions in FBN1 gene by next-generation sequencing and multiplex ligation-dependent probe amplification. | 1 |
| 38363189 | 2024 | The correlation between serum asprosin and left ventricular diastolic dysfunction in elderly patients with type 2 diabetes mellitus in the community. | 0 |
| 38363509 | 2024 | The mediation effect of asprosin on the association between ambient air pollution and diabetes mellitus in the elderly population in Taiyuan, China. | 0 |
| 38438865 | 2024 | Association of serum asprosin with metabolic dysfunction-associated fatty liver disease in older adult type 2 diabetic patients: a cross-sectional study. | 0 |
| 38448013 | 2024 | [Clinical phenotype and genetic analysis of six Chinese patients affected with Acromicric dysplasia due to variants of FBN1 gene]. | 1 |
| 38458756 | 2024 | Pathogenic variants affecting the TB5 domain of the fibrillin-1 protein: not only in geleophysic/acromicric dysplasias but also in Marfan syndrome. | 0 |
| 38670007 | 2024 | Targeted genetic analysis in a cohort of sporadic death from spontaneous rupture of thoracic aortic dissection in Han Chinese population. | 0 |
| 38773661 | 2024 | Causative role of a novel intronic indel variant in FBN1 and maternal germinal mosaicism in Marfan syndrome. | 0 |
| 38955762 | 2024 | [Correlation of posterior segment lesions with anterior segment biometric parameters and FBN1 genotype in patients with Marfan syndrome]. | 0 |
| 37684520 | 2024 | A population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndrome. | 3 |
Citation
Dessen P
FBN1 (fibrillin 1)
Atlas Genet Cytogenet Oncol Haematol. 2007-02-01
Online version: http://atlasgeneticsoncology.org/gene/43778/fbn1
