NPHS2 NPHS2 stomatin family member, podocin
Gene ID: 7827, updated on 17-Sep-2024Gene type: protein coding
Also known as: PDCN; SRN1
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- Go to complete Gene record for NPHS2
- Go to Variation Viewer for NPHS2 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Nephrotic syndrome, type 2 | See labs |
Genomic context
- Location:
- 1q25.2
- Sequence:
- Chromosome: 1; NC_000001.11 (179550539..179575948, complement)
- Total number of exons:
- 8
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for NPHS2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- NPHS2 database
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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