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
- Position
- 5,862,804–5,993,455 (−)
- Aliases
- POC10, SLSN4
- Ensembl
- ENSG00000131697
- RefSeq RNA
- NM_001291593.2, NM_001291594.2, NM_015102.5, NR_111987.2, XM_006710563.4
- RefSeq protein
- NP_001278522.1, NP_001278523.1, NP_055917.1, XP_006710626.1, XP_011539515.1
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].
Gene Ontology
Biological process
Molecular function
Cellular component
Pathways
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
~1 min read
Encyclopedic overview
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.
Excerpted from Wikipedia’s “NPHP4” article, available under the CC BY-SA 4.0 licence.