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Details on Person UniProt:Q9NP85 NPHS2
| Class:Id | ReferenceGeneProduct:61970 |
|---|---|
| _chainChangeLog | chain:1-383 added on Fri February 6 2015 |
| _displayName | UniProt:Q9NP85 NPHS2 |
| _timestamp | 2024-11-03 20:02:34 |
| chain | chain:1-383 |
| checksum | BBB57783C840F752 |
| comment | FUNCTION Plays a role in the regulation of glomerular permeability, acting probably as a linker between the plasma membrane and the cytoskeleton.SUBUNIT Interacts with nephrin/NPHS1 and KIRREL1. Interacts directly with CD2AP. Interacts with DDN (By similarity).INTERACTION Almost exclusively expressed in the podocytes of fetal and mature kidney glomeruli.PTM Glycosylated.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the band 7/mec-2 family.ONLINE INFORMATION Leiden Open Variation Database (LOVD) |
| description | recommendedName: fullName evidence="25"Podocin |
| geneName | NPHS2 |
| identifier | Q9NP85 |
| isSequenceChanged | FALSE |
| keyword | Alternative splicing Cell membrane Disease variant Endoplasmic reticulum Glycoprotein Lipoprotein Membrane Palmitate Proteomics identification Reference proteome |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 |
| name | NPHS2 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:9001982] ENSEMBL:ENSG00000116218 NPHS2 [Homo sapiens] |
| secondaryIdentifier | PODO_HUMAN B1AM32 B1AM33 Q8N6Q5 |
| sequenceLength | 383 |
| species | [Species:48887] Homo sapiens |
| (isoformParent) | [ReferenceIsoform:152307] UniProt:Q9NP85-2 NPHS2 [Homo sapiens] [ReferenceIsoform:414639] UniProt:Q9NP85-1 NPHS2 [Homo sapiens] |
| (referenceEntity) | [EntityWithAccessionedSequence:373633] NPHS2 [plasma membrane] [Homo sapiens] |
| [Change default viewing format] | |
No pathways have been reviewed or authored by UniProt:Q9NP85 NPHS2 (61970)
