| Gene Information | |
|---|---|
| Gene Name | NPHP4 |
| Organism | Homo sapiens (Human) |
| Gene Length | 1426 |
| Protein Names | Nephrocystin-4 (Nephroretinin) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 987 ( ENSG00000131697 ) |
| Evolutionary Stage | Opisthokonta |
| AlphaFoldDB | O75161 |
| Gene Card | NPHP4 |
| Uniprot ID | O75161 |
| Pfam | NA |
| In ASD | no |
| Allosteric Prediction | no (-0.712653425) |
| Ortholog in Animals | Alpaca_ NPHP4 ( ortholog_one2one ) Dog_ NPHP4 ( ortholog_one2one ) GuineaPig_ NPHP4 ( ortholog_one2one ) Macaque_ NPHP4 ( ortholog_one2one ) Mouse_ Nphp4 ( ortholog_one2one ) Pig_ NPHP4 ( ortholog_one2one ) Rat_ Nphp4 ( ortholog_one2one ) |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Expressed in kidney, skeletal muscle, heart and liver, and to a lesser extent in brain and lung. {ECO:0000269|PubMed:12244321}. |
| Pharmacological Animal Models | NULL(Chimpanzee);NULL(Mouse);0.002419(Rat);NULL(Rabbit) |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | NA |
| DBSNP | rs145078518 rs12142270 rs201065230 rs761063669 rs200684272 rs190940697 rs758253306 rs145255635 rs12093500 rs571655 rs199891059 rs191913664 rs34248917 rs373962831 rs149244006 rs201527181 rs1433852047 rs17472401 rs769851221 rs199992272 rs1287637 rs12084067 rs183885357 rs28940891 rs375819124 rs41280798 rs139767853 rs139022622 rs144624477 rs781049266 rs779755743 rs201779243 |
| Subcellular location [CC] | Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:17558407, ECO:0000269|PubMed:26644512}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:17558407}. Cell junction, tight junction {ECO:0000250|UniProtKB:P59240}. Nucleus {ECO:0000269|PubMed:22654112}. Note=In cultured renal cells, it localizes diffusely in the cytoplasm but, as cells approach confluence, it accumulates to basolateral tight junctions (By similarity). Localizes to the ciliary transition zone (By similarity). In the retinal photoreceptor cell layer, localizes at the connecting cilium (By similarity). {ECO:0000250|UniProtKB:P59240}. |
| Mouse PG classification | NA |
| click here to return to the previous page | |