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
signal transductionvisual behavioractin cytoskeleton organizationnegative regulation of canonical Wnt signaling pathwaynegative regulation of canonical Wnt signaling pathwaynegative regulation of canonical Wnt signaling pathwaycell-cell adhesionpositive regulation of bicellular tight junction assembly
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
View on Ensembl →
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 7 more facts
- HomoloGene ID
- 9024
- cytogenetic location
- 1p36.31
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/261734
- genomic end
- 6052533
- genomic start
- 5922871
- chromosome
- human chromosome 1
via Wikidata · CC0