| Gene Information | |
|---|---|
| Gene Name | FBN2 |
| Organism | Homo sapiens (Human) |
| Gene Length | 2912 |
| Protein Names | Fibrillin-2 [Cleaved into: Placensin] |
| Target Name | fibrillin-2 |
| Target Type | NA |
| Gene Age | 645 ( ENSG00000138829 ) |
| Evolutionary Stage | Eukaryota |
| AlphaFoldDB | NA |
| Gene Card | FBN2 |
| Uniprot ID | P35556 |
| Pfam | PF12662; PF12947; PF07645; PF18193; PF12661; PF00683 |
| In ASD | no |
| Allosteric Prediction | no (-0.401759874) |
| Ortholog in Animals | Alpaca_ FBN2 ( ortholog_one2one ) Dog_ FBN2 ( ortholog_one2one ) GuineaPig_ FBN2 ( ortholog_one2one ) Macaque_ FBN2 ( ortholog_one2one ) Mouse_ Fbn2 ( ortholog_one2one ) Pig_ FBN2 ( ortholog_one2one ) Rat_ Fbn2 ( ortholog_one2one ) Rabbit_ FBN2 ( ortholog_one2one ) |
| Ohnologs | FBN3, FBN1 |
| Paralogs | FBN1, FBN3 |
| Tissue | placenta |
| Tissue Specificity | 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). {ECO:0000269|PubMed:24899048, ECO:0000269|PubMed:32329225}.; [Placensin]: 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). {ECO:0000269|PubMed:32329225}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
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| Gene Ontology (molecular function) |
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| PDB | NA |
| DBSNP | rs137852826 rs548605398 rs145259927 rs154001 rs137852827 rs137852828 rs200060005 rs1206843725 rs1554123065 rs863223567 rs149054177 rs28931602 rs137852825 rs267606802 rs78727187 rs794727560 rs200837433 rs56168072 rs2307109 rs32209 rs1801169 rs2291628 rs2291628 rs1801170 |
| Subcellular location [CC] | Secreted {ECO:0000269|PubMed:32329225}. Note=Fibrillin-2 and Placensin chains are still linked together during the secretion from cells, but are subsequently separated by furin. {ECO:0000269|PubMed:32329225}.; [Fibrillin-2]: Secreted, extracellular space, extracellular matrix {ECO:0000269|PubMed:8120105}.; [Placensin]: Secreted {ECO:0000269|PubMed:32329225}. Note=Secreted by placental cells. {ECO:0000269|PubMed:32329225}. |
| Mouse PG classification | NA |
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