Nphp4 - nephronophthisis 4 (juvenile) homolog (human) Gene

Also Known as nmf192; 4930564O18Rik

Species: Mus musculus

Gene Type: protein coding
Gene ID: 260305

Summary

Acts upstream of or within several processes, including flagellated sperm motility; photoreceptor cell maintenance; and photoreceptor cell outer segment organization. Located in several cellular components, including ciliary base; photoreceptor distal connecting cilium; and ribbon synapse. Used to study nephronophthisis 4. Human ortholog(s) of this gene implicated in Joubert syndrome 4; Senior-Loken syndrome; congenital heart disease; nephronophthisis; and nephronophthisis 4. Orthologous to human NPHP4 (nephrocystin 4). [provided by Alliance of Genome Resources, Apr 2022]

Nphp4 Products (3)

mRNA Protein Name
NM_001355738.1 NP_001342667.1 nephrocystin-4
NM_001355739.1 NP_001342668.1 nephrocystin-4
NM_153424.2 NP_700473.2 nephrocystin-4

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
20664800 MGI
Biological Process GO Annotation Evidence References Source
acts upstream of or within flagellated sperm motility IMP
IMP: Inferred from mutant phenotype
21078623 MGI
acts upstream of or within photoreceptor cell maintenance IMP
IMP: Inferred from mutant phenotype
21078623 MGI
acts upstream of or within photoreceptor cell outer segment organization IMP
IMP: Inferred from mutant phenotype
21078623 MGI
acts upstream of or within retina development in camera-type eye IMP
IMP: Inferred from mutant phenotype
21052544 MGI
Cellular Component GO Annotation Evidence References Source
located in centriole IDA
IDA: Inferred from direct assay
29038301 MGI
located in ciliary base IDA
IDA: Inferred from direct assay
20169535 MGI
located in ciliary transition zone IDA
IDA: Inferred from direct assay
20169535 MGI
located in cytoplasm IDA
IDA: Inferred from direct assay
21565611 MGI
located in photoreceptor connecting cilium IDA
IDA: Inferred from direct assay
21078623 MGI
located in photoreceptor distal connecting cilium IDA
IDA: Inferred from direct assay
29899041 MGI
located in ribbon synapse IDA
IDA: Inferred from direct assay
21078623 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-4

  • nephroretinin

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS09485 NPHP4 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Homo sapiens Nphp4 NCBI NCBI:261734