NPHP4 nephrocystin 4
Gene ID: 261734, updated on 5-Mar-2024Gene type: protein coding
Also known as: POC10; SLSN4
- See all available tests in GTR for this gene
- Go to complete Gene record for NPHP4
- Go to Variation Viewer for NPHP4 variants
Summary
This gene encodes a protein involved in renal tubular development and function. This protein interacts with nephrocystin, and belongs to a multifunctional complex that is localized to actin- and microtubule-based structures. Mutations in this gene are associated with nephronophthisis type 4, a renal disease, and with Senior-Loken syndrome type 4, a combination of nephronophthisis and retinitis pigmentosa. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Common variants at ten loci influence QT interval duration in the QTGEN Study. GeneReviews: Not available | |
| Genetic association with overall survival of taxane-treated lung cancer patients - A genome-wide association study in human lymphoblastoid cell lines followed by a clinical association study. GeneReviews: Not available | |
| Nephronophthisis 4 | See labs |
| Senior-Loken syndrome 4 | See labs |
Genomic context
- Location:
- 1p36.31
- Sequence:
- Chromosome: 1; NC_000001.11 (5862811..5992425, complement)
- Total number of exons:
- 38
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for NPHP4 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
- 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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