InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: FBN2

Summary

InnateDB Protein

IDBP-483197.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

FBN2

Protein Name

fibrillin 2

Synonyms

CCA; DA9;

Species

Homo sapiens

Ensembl Protein

ENSP00000424571

InnateDB Gene

IDBG-39842 (FBN2)

Protein Structure

UniProt Annotation

Function

Fibrillins are structural components of 10-12 nm extracellular calcium-binding microfibrils, which occur either in association with elastin or in elastin-free bundles. Fibrillin-2- containing microfibrils regulate the early process of elastic fiber assembly. Regulates osteoblast maturation by controlling TGF-beta bioavailability and calibrating TGF-beta and BMP levels, respectively (By similarity). {ECO:0000250}.

Subcellular Localization

Secreted, extracellular space, extracellular matrix.

Disease Associations

Arthrogryposis, distal, 9 (DA9) [MIM:121050]: A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA9 is a connective tissue disorder characterized by contractures, arachnodactyly, scoliosis, and crumpled ears. {ECO:0000269PubMed:10797416, ECO:0000269PubMed:11754102, ECO:0000269PubMed:19006240, ECO:0000269PubMed:7493032, ECO:0000269PubMed:9714438, ECO:0000269PubMed:9737771}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

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

Protein Structure and Domains

PDB ID

InterPro

IPR000742 Epidermal growth factor-like domain
IPR001881 EGF-like calcium-binding domain
IPR011398 Fibrillin/Microneme protein4
IPR015919 Cadherin-like
IPR017878 TB domain

PFAM

PF00008
PF07645
PF00683

PRINTS

PIRSF

PIRSF036312

SMART

SM00181
SM00179

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt