Version 5.4
Homo sapiens Gene: FBN2
Summary
InnateDB Gene IDBG-39842.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol FBN2
Gene Name fibrillin 2
Synonyms CCA; DA9
Species Homo sapiens
Ensembl Gene ENSG00000138829
Encoded Proteins
IDBP-39844
fibrillin 2
IDBP-483197
fibrillin 2
IDBP-474556
fibrillin 2
IDBP-480285
fibrillin 2
IDBP-474316
fibrillin 2
IDBP-812314
fibrillin 2
IDBP-812315
fibrillin 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The protein encoded by this gene is a component of connective tissue microfibrils and may be involved in elastic fiber assembly. Mutations in this gene cause congenital contractural arachnodactyly. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 5:128257909-128659185
Strand Reverse strand
Band q23.3
Transcripts
ENST00000262464 ENSP00000262464
ENST00000508053 ENSP00000424571
ENST00000507835 ENSP00000426839
ENST00000508989 ENSP00000425596
ENST00000511489
ENST00000502468 ENSP00000424753
ENST00000514742
ENST00000620257 ENSP00000479157
ENST00000619499 ENSP00000482132
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 13 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 13 [view]
Protein-Protein 13 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005201 extracellular matrix structural constituent
GO:0005509 calcium ion binding
GO:0005515 protein binding
Biological Process
GO:0009653 anatomical structure morphogenesis
GO:0022617 extracellular matrix disassembly
GO:0030198 extracellular matrix organization
GO:0030326 embryonic limb morphogenesis
GO:0030501 positive regulation of bone mineralization
GO:0035108 limb morphogenesis
GO:0035583 sequestering of TGFbeta in extracellular matrix
GO:0045669 positive regulation of osteoblast differentiation
GO:0060346 bone trabecula formation
Cellular Component
GO:0001527 microfibril
GO:0005576 extracellular region
GO:0005578 proteinaceous extracellular matrix
GO:0016020 membrane
Orthologs
Species
Mus musculus
Gene ID
Gene Order
ENSMUSG00000024598
View Gene Order
Pathways
NETPATH
REACTOME
REACT_150331
Molecules associated with elastic fibres pathway
REACT_150366
Elastic fibre formation pathway
REACT_118779
Extracellular matrix organization pathway
REACT_118572
Degradation of the extracellular matrix pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.519294 Hs.624411
RefSeq NM_001999
HUGO
OMIM
CCDS CCDS34222
HPRD 00416
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca