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MGP001039

UniProt Annotations

Entry Information
Gene Namefibrillin 2
Protein EntryFBN2_HUMAN
UniProt IDP35556
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P35556-1; Sequence=Displayed; Name=2; IsoId=P35556-2; Sequence=VSP_037369, VSP_037370, VSP_037371;
DiseaseArthrogryposis, 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:0000269|PubMed:10797416, ECO:0000269|PubMed:11754102, ECO:0000269|PubMed:19006240, ECO:0000269|PubMed:7493032, ECO:0000269|PubMed:9714438, ECO:0000269|PubMed:9737771}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionFibrillins 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}.
InteractionP35555:FBN1; NbExp=2; IntAct=EBI-6164392, EBI-2505934; P02751:FN1; NbExp=2; IntAct=EBI-6164392, EBI-1220319;
SimilarityBelongs to the fibrillin family. {ECO:0000305}.
SimilarityContains 47 EGF-like domains. {ECO:0000255|PROSITE- ProRule:PRU00076}.
SimilarityContains 9 TB (TGF-beta binding) domains. {ECO:0000305}.
Subcellular LocationSecreted, extracellular space, extracellular matrix.
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