Gene: NPHP4
Alternate names for this Gene: POC10|SLSN4
Gene Summary: 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.
Gene is located in Chromosome: 1
Location in Chromosome : 1p36.31
Description of this Gene: nephrocystin 4
Type of Gene: protein-coding
rs139022622 in
NPHP4 gene and
NEPHRONOPHTHISIS 4
PMID 12244321 2002 The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin.
PMID 12205563 2002 A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution.
PMID 16339905 2005 Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations.
PMID 17558407 2007 Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.
PMID 15776426 2005 Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis.
PMID 22550138 2012 NPHP4 variants are associated with pleiotropic heart malformations.
rs137852919 in
NPHP4 gene and
Nephronophthisis
PMID 15776426 2005 Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis.
PMID 12244321 2002 The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin.
PMID 12205563 2002 A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution.
rs144624477 in
NPHP4 gene and
SENIOR-LOKEN SYNDROME 4
PMID 21546380 2011 Assessing the pathogenic potential of human Nephronophthisis disease-associated NPHP-4 missense mutations in C. elegans.
PMID 15776426 2005 Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis.
PMID 12244321 2002 The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin.
PMID 22550138 2012 NPHP4 variants are associated with pleiotropic heart malformations.
PMID 12205563 2002 A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution.