NPHP4
Sign in to saveAlso known as POC10, SLSN4, nephronophthisis 4, nephrocystin 4
Nephrocystin-4 is a protein that in humans is encoded by the NPHP4 gene.
Gene data
NPHP4- Name
- nephrocystin 4
- Type
- protein-coding
- Aliases
- POC10, SLSN4
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].
via MyGene.info
Gene · Ensembl
nephrocystin 4
- Symbol
- NPHP4
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 1:5,862,804-5,993,455
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
Show 5 more facts
- HomoloGene ID
- 9024
- cytogenetic location
- 1p36.31
- exact match
- identifiers.org/ncbigene/261734
- genomic end
- 6052533
- genomic start
- 5922871
via Wikidata · CC0
~1 min read
Article
2 sectionsContents
- References
- Further reading
Nephrocystin-4 is a protein that in humans is encoded by the NPHP4 gene.
This gene encodes a protein which contains a proline-rich region. The encoded protein may function in renal tubular development and function.