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Details on Person UniProt:P35556 FBN2
| Class:Id | ReferenceGeneProduct:54678 |
|---|---|
| _chainChangeLog | signal peptide:1-28 added on Fri February 6 2015;chain:29-2912 added on Fri February 6 2015;chain:29-2912 removed on Fri August 12 2016;propeptide:29-77 added on Fri August 12 2016;chain:78-2779 added on Fri August 12 2016;chain:2780-2912 added on Fri August 12 2016 |
| _displayName | UniProt:P35556 FBN2 |
| _timestamp | 2024-11-03 20:14:24 |
| chain | signal peptide:1-28 propeptide:29-77 chain:78-2779 chain:2780-2912 |
| checksum | 0F0D78319E9911E6 |
| comment | 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.FUNCTION Hormone secreted by trophoblasts that promotes trophoblast invasiveness (PubMed:32329225). Has glucogenic activity: is able to increase plasma glucose levels (By similarity).SUBUNIT Interacts with BMP2, BMP4, BMP7, BMP10 and GDF5 (PubMed:18339631). Interacts with MFAP2 and MFAP5 (PubMed:15131124). Interacts with ADAMTSL5 (PubMed:23010571). Interacts with MFAP4 (PubMed:26601954).INTERACTION Fibrillin-2 and Placensin chains are still linked together during the secretion from cells, but are subsequently separated by furin.SUBCELLULAR LOCATION Secreted by placental cells.ALTERNATIVE PRODUCTS Almost exclusively expressed in placenta (PubMed:32329225). Expressed at much lower level in other tissues (PubMed:32329225). Expressed in fetal eye (18 weeks)in the retinal pigment epithelium (RPE), the choroid, Bruch's membrane and in the sclera (PubMed:24899048). Not expressed in the neural retina (PubMed:24899048).TISSUE SPECIFICITY Present at high level in cytotrophoblasts as compared with syncytiotrophoblasts at 8-9 weeks of pregnancy (at protein level) (PubMed:32329225). Levels in the serum increase during pregnancy (at protein level) (PubMed:32329225).PTM N-glycosylated.PTM O-glycosylated on serine residues by POGLUT2 and POGLUT3.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the fibrillin family. |
| description | recommendedName: fullName evidence="26"Fibrillin-2 component recommendedName: fullName evidence="26"Placensin /component |
| geneName | FBN2 |
| identifier | P35556 |
| isSequenceChanged | FALSE |
| keyword | Alternative splicing Calcium Disease variant Disulfide bond EGF-like domain Extracellular matrix Glycoprotein Hormone Proteomics identification Reference proteome Repeat Secreted Signal |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 |
| name | FBN2 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8998306] ENSEMBL:ENSG00000138829 FBN2 [Homo sapiens] |
| secondaryIdentifier | FBN2_HUMAN B4DU01 Q59ES6 |
| sequenceLength | 2912 |
| species | [Species:48887] Homo sapiens |
| (isoformParent) | [ReferenceIsoform:424071] UniProt:P35556-1 FBN2 [Homo sapiens] [ReferenceIsoform:424072] UniProt:P35556-2 FBN2 [Homo sapiens] |
| (referenceEntity) | [EntityWithAccessionedSequence:2159841] FBN2 [extracellular region] [Homo sapiens] [EntityWithAccessionedSequence:2159846] FBN2(29-2779) [extracellular region] [Homo sapiens] [EntityWithAccessionedSequence:2159851] FBN2(2780-2912) [extracellular region] [Homo sapiens] [EntityWithAccessionedSequence:2514770] FBN2(1-2779) [extracellular region] [Homo sapiens] [EntityWithAccessionedSequence:2514787] FBN2(29-?) [extracellular region] [Homo sapiens] |
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No pathways have been reviewed or authored by UniProt:P35556 FBN2 (54678)
