InnateDB Protein
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IDBP-105124.4
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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NPHS2
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Protein Name
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nephrosis 2, idiopathic, steroid-resistant (podocin)
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Synonyms
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PDCN; SRN1;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000356587
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InnateDB Gene
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IDBG-105120 (NPHS2)
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Protein Structure
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Function |
Plays a role in the regulation of glomerular permeability, acting probably as a linker between the plasma membrane and the cytoskeleton.
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Subcellular Localization |
Isoform 1: Cell membrane {ECO:0000305}; Peripheral membrane protein {ECO:0000305}.Isoform 2: Endoplasmic reticulum {ECO:0000269PubMed:23648087}.
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Disease Associations |
Nephrotic syndrome 2 (NPHS2) [MIM:600995]: A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. The disorder is resistant to steroid treatment and progresses to end- stage renal failure in the first or second decades. Some patients show later onset of the disorder. {ECO:0000269PubMed:10742096}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Almost exclusively expressed in the podocytes of fetal and mature kidney glomeruli.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated |
Total |
10
[view]
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Protein-Protein |
10
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
3 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR001107
Band 7 protein
IPR001972
Stomatin family
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PFAM |
PF01145
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PRINTS |
PR00721
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PIRSF |
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SMART |
SM00244
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TIGRFAMs |
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Modification |
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SwissProt |
Q9NP85
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PhosphoSite |
PhosphoSite-Q9NP85
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
7827
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UniGene |
Hs.412710
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RefSeq |
NP_055440
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HUGO |
HGNC:13394
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OMIM |
604766
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CCDS |
CCDS1331
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HPRD |
05303
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IMGT |
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EMBL |
AJ279246
AJ279247
AJ279248
AJ279249
AJ279250
AJ279251
AJ279252
AJ279253
AJ279254
AL160286
BC029141
CH471067
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GenPept |
AAH29141
CAB83216
CAB83272
CAI15397
CAI15398
EAW91049
EAW91050
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