The NPHS2 gene homepage

General information
Gene symbol NPHS2
Gene name nephrosis 2, idiopathic, steroid-resistant (podocin)
Chromosome 1
Chromosomal band q25-q31
Imprinted Unknown
Genomic reference NG_007535.1
Transcript reference NM_014625.2
Exon/intron information NM_014625.2 exon/intron table
Associated with diseases NPHS, NPHS-2
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Olivier Gribouval
Total number of public variants reported 1048
Unique public DNA variants reported 195
Individuals with public variants 709
Hidden variants 10
Notes alias PDCN (podocin)
Date created April 29, 2010
Date last updated October 22, 2020
Version NPHS2:201022

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_014625.2.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL http://www.LOVD.nl/NPHS2
External URL Orphanet
HGNC 13394
Entrez Gene 7827
PubMed articles NPHS2
OMIM - Gene 604766
OMIM - Diseases NPHS-2 (nephrotic syndrome, type 2 (NPHS-2))
HGMD NPHS2
GeneCards NPHS2
GeneTests NPHS2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00014736 1 nephrosis 2, idiopathic, steroid-resistant (podocin) NM_014625.2 NP_055440.1 1048


Copyright & disclaimer
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We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.