NP_001990.2
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
157,690 Da
NCBI Official Full Name
fibrillin-2
NCBI Official Synonym Full Names
fibrillin 2
NCBI Protein Information
fibrillin-2
UniProt Protein Name
Fibrillin-2
UniProt Entry Name
FBN2_HUMAN
NCBI Summary for FBN2
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]
UniProt Comments for FBN2
FBN2: 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. Defects in FBN2 are the cause of distal arthrogryposis type 9 (DA9). 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. Belongs to the fibrillin family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Secreted; Secreted, signal peptide
Chromosomal Location of Human Ortholog: 5q23-q31
Cellular Component: extracellular matrix; proteinaceous extracellular matrix; extracellular region; microfibril
Molecular Function: protein binding; extracellular matrix structural constituent; calcium ion binding
Biological Process: positive regulation of osteoblast differentiation; extracellular matrix disassembly; extracellular matrix organization and biogenesis; anatomical structure morphogenesis; positive regulation of bone mineralization; embryonic limb morphogenesis
Disease: Macular Degeneration, Early-onset; Arthrogryposis, Distal, Type 9
Research Articles on FBN2
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Products associated with FBN2 sirna
Pathways associated with FBN2 sirna
Diseases associated with FBN2 sirna
Organs/Tissues associated with FBN2 sirna
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