Property Summary

NCBI Gene PubMed Count 126
Grant Count 119
R01 Count 46
Funding $9,687,958.22
PubMed Score 342.88
PubTator Score 237.53

Knowledge Summary

Patent

No data available

Synonym

Accession Q9NP85 B1AM32 B1AM33 Q8N6Q5
Symbols PDCN
SRN1

Gene

PANTHER Protein Class (1)

Gene RIF (127)

PMID Text
26420286 NPHS2 mutations account for only 15% of nephrotic syndrome cases.
26211502 Oligoallelic amino acid mutations in podocin may be potential causative mutations for proteinuria (meta-analysis)
26138234 The results support the hypothesis that certain hypomorphic podocin variants may act as adverse genetic modifiers when co-inherited with COL4A3 mutations
25676004 translocation of podocin by endocytosis could be a key traffic event of critical podocyte injury and that the podocin gap could indicate the prognosis of IgA nephropathy.
25599733 NPHS2 rs61747728 variant is not associated with nephrotic syndrome in children.
25349199 A single gene is involved in the development of steroid-resistant nephrotic syndrome.
25112471 NPHS2 gene mutations are not a major cause of chronic renal insufficiency caused by late SRNS in Chinese southern infants
24969201 Case Report: novel NPHS2 sequence variant in a girl with steroid-resistant nephrotic syndrome and focal and segmental glomerulosclerosis.
24856380 Four patients had homozygous c.413G>A (p.Arg138Gln) NPHS2 mutations; one subject was homozygous for c.868G>A (p.Val290Met) NPHS2.
24715228 for adult-onset disease (onset age > 18), the homozygous variant could be a potential predictor of hereditary nephrotic syndrome; the p.R229Q allele cannot currently be considered a risk factor for predicting focal segmental glomerulosclerosis.
More...

AA Sequence

MERRARSSSRESRGRGGRTPHKENKRAKAERSGGGRGRQEAGPEPSGSGRAGTPGEPRAPAATVVDVDEV      1 - 70
RGSGEEGTEVVALLESERPEEGTKSSGLGACEWLLVLISLLFIIMTFPFSIWFCVKVVQEYERVIIFRLG     71 - 140
HLLPGRAKGPGLFFFLPCLDTYHKVDLRLQTLEIPFHEIVTKDMFIMEIDAICYYRMENASLLLSSLAHV    141 - 210
SKAVQFLVQTTMKRLLAHRSLTEILLERKSIAQDAKVALDSVTCIWGIKVERIEIKDVRLPAGLQHSLAV    211 - 280
EAEAQRQAKVRMIAAEAEKAASESLRMAAEILSGTPAAVQLRYLHTLQSLSTEKPSTVVLPLPFDLLNCL    281 - 350
SSPSNRTQGSLPFPSPSKPVEPLNPKKKDSPML                                         351 - 383
//

Text Mined References (128)

PMID Year Title
26420286 2015 NPHS2 mutations account for only 15% of nephrotic syndrome cases.
26211502 2015 The amino acid mutations of the podocin in proteinuria: a meta-analysis.
26138234 2015 Co-Inheritance of Functional Podocin Variants with Heterozygous Collagen IV Mutations Predisposes to Renal Failure.
25676004 2015 Podocin is translocated to cytoplasm in puromycin aminonucleoside nephrosis rats and in poor-prognosis patients with IgA nephropathy.
25599733 2015 Association between NPHS1 and NPHS2 gene variants and nephrotic syndrome in children.
25349199 2015 A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.
25112471 2014 NPHS2 variation in Chinese southern infants with late steroid-resistant nephrotic syndrome.
24969201 2014 mRNA sequencing of a novel NPHS2 intronic mutation in a child with focal and segmental glomerulosclerosis.
24856380 2014 Retrospective mutational analysis of NPHS1, NPHS2, WT1 and LAMB2 in children with steroid-resistant focal segmental glomerulosclerosis - a single-centre experience.
24715228 2014 The p.R229Q variant of the NPHS2 (podocin) gene in focal segmental glomerulosclerosis and steroid-resistant nephrotic syndrome: a meta-analysis.
More...