Description: Homo sapiens nephrosis 2, idiopathic, steroid-resistant (podocin) (NPHS2), mRNA. RefSeq Summary (NM_014625): This gene encodes a protein that plays a role in the regulation of glomerular permeability. Mutations in this gene cause steroid-resistant nephrotic syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]. Transcript (Including UTRs) Position: hg19 chr1:179,519,674-179,545,084 Size: 25,411 Total Exon Count: 7 Strand: - Coding Region Position: hg19 chr1:179,520,308-179,544,999 Size: 24,692 Coding Exon Count: 7
microalbuniuria Pereira, A. C. et al. 2004, NPHS2 R229Q functional variant is associated with microalbuminuria in the general population., Kidney international. 2004 Mar;65(3):1026-30.
[PubMed 14871423]
These data have important implications for the understanding of microalbuminuria in the general population and may contribute to better ways of disease prediction and prevention.
nephrosis Yu, Z. et al. 2005, Mutations in NPHS2 in sporadic steroid-resistant nephrotic syndrome in Chinese children., Nephrology, dialysis, transplantation. 2005 May;20(5):902-8.
[PubMed 15769810]
The results demonstrate that NPHS2 mutations are also present in Chinese sporadic SRNS. Our investigation supports the necessity of searching for mutations in NPHS2 in Chinese children with sporadic SRNS.
nephrotic syndrome Hinkes, B. G. et al. 2007, Nephrotic Syndrome in the First Year of Life, Pediatrics 2007.
[PubMed 17371932]
First, two thirds of nephrotic syndrome manifesting in the first year of life can be explained by mutations in 4 genes only (NPHS1, NPHS2, WT1, or LAMB2).
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Protein Domain and Structure Information
ModBase Predicted Comparative 3D Structure on Q9NP85-2
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.