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: 2201
MIM: 612570
HGNC: 3604
Ensembl: ENSG00000138829
Variants:
dbSNP: 2201
ClinVar: 2201
TCGA: ENSG00000138829
COSMIC: FBN2
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 |
|---|---|---|---|
| 38534877 | 2024 | Effect of Fibrillin-2 on Differentiation into Periodontal Ligament Stem Cell-Like Cells Derived from Human-Induced Pluripotent Stem Cells. | 0 |
| 38602424 | 2024 | FBN2 pathogenic variants in congenital contractural arachnodactyly with severe cardiovascular manifestations. | 0 |
| 38743490 | 2024 | Fibulin-2 is an extracellular matrix inhibitor of oligodendrocytes relevant to multiple sclerosis. | 0 |
| 38534877 | 2024 | Effect of Fibrillin-2 on Differentiation into Periodontal Ligament Stem Cell-Like Cells Derived from Human-Induced Pluripotent Stem Cells. | 0 |
| 38602424 | 2024 | FBN2 pathogenic variants in congenital contractural arachnodactyly with severe cardiovascular manifestations. | 0 |
| 38743490 | 2024 | Fibulin-2 is an extracellular matrix inhibitor of oligodendrocytes relevant to multiple sclerosis. | 0 |
| 37140249 | 2023 | Assessment of fibrillin-2 and elastin gene polymorphisms in patients with a traumatic Achilles tendon rupture: Is Achilles tendon rupture a genetic disease? | 1 |
| 37337404 | 2023 | A comprehensive analysis of FBN2 in bladder cancer: A risk factor and the tumour microenvironment influencer. | 2 |
| 37140249 | 2023 | Assessment of fibrillin-2 and elastin gene polymorphisms in patients with a traumatic Achilles tendon rupture: Is Achilles tendon rupture a genetic disease? | 1 |
| 37337404 | 2023 | A comprehensive analysis of FBN2 in bladder cancer: A risk factor and the tumour microenvironment influencer. | 2 |
| 35163744 | 2022 | FBN2 Silencing Recapitulates Hypoxic Conditions and Induces Elastic Fiber Impairment in Human Dermal Fibroblasts. | 2 |
| 35419902 | 2022 | The fibrillinopathies: New insights with focus on the paradigm of opposing phenotypes for both FBN1 and FBN2. | 10 |
| 35804365 | 2022 | Carrying both COL1A2 and FBN2 gene heterozygous mutations results in a severe skeletal clinical phenotype: an affected family. | 2 |
| 35163744 | 2022 | FBN2 Silencing Recapitulates Hypoxic Conditions and Induces Elastic Fiber Impairment in Human Dermal Fibroblasts. | 2 |
| 35419902 | 2022 | The fibrillinopathies: New insights with focus on the paradigm of opposing phenotypes for both FBN1 and FBN2. | 10 |
Citation
Dessen P
FBN2 (fibrillin 2)
Atlas Genet Cytogenet Oncol Haematol. 2009-06-01
Online version: http://atlasgeneticsoncology.org/gene/50986/fbn2
