FBN2 (fibrillin 2)

2009-06-01  

Identity

HGNC
LOCATION
5q23.3
LOCUSID
ALIAS
CCA,DA9,EOMD
FUSION GENES

Other Information

Locus ID:

NCBI: 2201
MIM: 612570
HGNC: 3604
Ensembl: ENSG00000138829

Variants:

dbSNP: 2201
ClinVar: 2201
TCGA: ENSG00000138829
COSMIC: FBN2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000138829ENST00000262464P35556
ENSG00000138829ENST00000502468E9PHW4
ENSG00000138829ENST00000507835D6REJ2
ENSG00000138829ENST00000508053P35556
ENSG00000138829ENST00000508989D6RJI3

Expression (GTEx)

0
50
100
150

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
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
172551082007Fibrillin-1 interactions with fibulins depend on the first hybrid domain and provide an adaptor function to tropoelastin.54
123994492002Homo- and heterotypic fibrillin-1 and -2 interactions constitute the basis for the assembly of microfibrils.50
124297392003Fibrillins can co-assemble in fibrils, but fibrillin fibril composition displays cell-specific differences.47
202019262010Human variation in alcohol response is influenced by variation in neuronal signaling genes.45
248337182014Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis.30
125240502002Fibrillin-1 and fibrillin-2 in human embryonic and early fetal development.27
204043372010Microfibril structure masks fibrillin-2 in postnatal tissues.22
192880102009Methylation of CLDN6, FBN2, RBP1, RBP4, TFPI2, and TMEFF2 in esophageal squamous cell carcinoma.20
248990482014Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration.19

Citation

Dessen P

FBN2 (fibrillin 2)

Atlas Genet Cytogenet Oncol Haematol. 2009-06-01

Online version: http://atlasgeneticsoncology.org/gene/50986/fbn2