2. Gene
  3. Nphp3 - nephronophthisis 3 (adolescent) Gene

Nphp3 - nephronophthisis 3 (adolescent) Gene

  • Gene
  • Protein
  • Agent
  • Ortholog
Mus musculus

Also known as pcy; C230078J01; 3632410F03Rik; D330020E01Rik

Gene ID: 74025 | Gene type: protein coding

About Nphp3

Summary

Involved in several processes, including cilium assembly; determination of left/right symmetry; and maintenance of animal organ identity. Acts upstream of or within several processes, including extracellular matrix organization; non-motile cilium assembly; and positive regulation of protein binding activity. Located in ciliary base and ciliary inversin compartment. Is expressed in embryo. Used to study autosomal dominant polycystic kidney disease and nephronophthisis 3. Human ortholog(s) of this gene implicated in Meckel syndrome 7; nephronophthisis; nephronophthisis 3; and renal-hepatic-pancreatic dysplasia. Orthologous to human NPHP3 (nephrocystin 3). [provided by Alliance of Genome Resources, Apr 2022]

Nphp3 Products(2)

mRNA Protein Name
NM_028721.3 NP_082997.3 nephrocystin-3 isoform a
NM_172460.1 NP_766048.1 nephrocystin-3 isoform b
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
29395339 MGI
Biological Process GO Annotation Evidence Reference Source
involved in cilium assembly IMP
IMP: Inferred from mutant phenotype
18371931 MGI
involved in determination of left/right symmetry IMP
IMP: Inferred from mutant phenotype
18371931 MGI
acts upstream of or within establishment or maintenance of cell polarity IMP
IMP: Inferred from mutant phenotype
22832925 MGI
acts upstream of or within extracellular matrix organization IMP
IMP: Inferred from mutant phenotype
7539536 MGI
acts upstream of or within kidney development IMP
IMP: Inferred from mutant phenotype
24178445 MGI
acts upstream of or within kidney morphogenesis IMP
IMP: Inferred from mutant phenotype
29395339 MGI
involved in kidney morphogenesis IMP
IMP: Inferred from mutant phenotype
18371931 MGI
acts upstream of or within lipid metabolic process IMP
IMP: Inferred from mutant phenotype
1385849 MGI
involved in maintenance of animal organ identity IMP
IMP: Inferred from mutant phenotype
12872122 MGI
acts upstream of or within non-motile cilium assembly IMP
IMP: Inferred from mutant phenotype
22832925 MGI
acts upstream of or within positive regulation of protein binding IMP
IMP: Inferred from mutant phenotype
29395339 MGI
Cellular Component GO Annotation Evidence Reference Source
located in ciliary base IDA
IDA: Inferred from direct assay
20169535 MGI
located in ciliary inversin compartment IDA
IDA: Inferred from direct assay
20169535 MGI
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

nephrocystin-3

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS09484 NPHP3 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Homo sapiens Nphp3 NCBI NCBI:27031