Homo sapiens Gene: FBN3
Summary
InnateDB Gene IDBG-24224.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol FBN3
Gene Name fibrillin 3
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000142449
Encoded Proteins
fibrillin 3
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a protein that belongs to the fibrillin gene family. Fibrillins are extracellular matrix molecules that assemble into microfibrils in many connective tissues. This gene is most highly expressed in fetal tissues and its protein product is localized to extracellular microfibrils of developing skeletal elements, skin, lung, kidney, and skeletal muscle. This gene is potentially involved in Weill-Marchesani syndrome. While several transcript variants may exist for this gene, their full-length natures have not been described to date. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 19:8065402-8149846
Strand Reverse strand
Band p13.2
Transcripts
ENST00000270509 ENSP00000270509
ENST00000600128 ENSP00000470498
ENST00000595036
ENST00000594331
ENST00000598269
ENST00000601281 ENSP00000472729
ENST00000602121 ENSP00000469256
ENST00000601739 ENSP00000472324
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 27 experimentally validated interaction(s) in this database.
Experimentally validated
Total 27 [view]
Protein-Protein 27 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005201 extracellular matrix structural constituent
GO:0005509 calcium ion binding
GO:0005515 protein binding
Biological Process
Cellular Component
GO:0005578 proteinaceous extracellular matrix
Orthologs
No orthologs found for this gene
Pathways
NETPATH
REACTOME
Elastic fibre formation pathway
Extracellular matrix organization pathway
Molecules associated with elastic fibres pathway
Degradation of the extracellular matrix pathway
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.370362
RefSeq NM_032447 XM_006722925
HUGO
OMIM
CCDS CCDS12196
HPRD 10538
IMGT
EMBL
GenPept
RNA Seq Atlas