Gene table of NPHP4 : nephrocystin 4

Gene-disease associations table

Disease IDDisease nameSource of annotation with NPHP4OMIM linkNumber of associated genesgenes
606996SENIOR-LOKEN SYNDROME 4ClinVar, OMIM, HUMSAVAR link to OMIM 1NPHP4
PS256100NEPHRONOPHTHISISClinVar, OMIM, HUMSAVAR link to OMIM 15NPHP3, XPNPEP3, NEK8, TTC21B, DCDC2, TMEM67, WDR19, ZNF423, CEP164, NPHP4, ANKS6, NPHP1, INVS, GLIS2, CEP83

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Annotation of the gene NPHP4

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Assembly of the primary ciliumR-HSA-56178335.44
Organelle biogenesis and maintenanceR-HSA-18522414.63
Anchoring of the basal body to the plasma membraneR-HSA-56209126.51
Signaling by HippoR-HSA-20282698.66
Signal TransductionR-HSA-1625821.78
Associated GO terms for Molecular function
GO termGO IDGO IC
bindingGO:00054880.18
protein bindingGO:00055150.46
structural molecule activityGO:00051983.1