Name

NPHP3-ACAD11 Gene

NPHP3-ACAD11 readthrough (NMD candidate)

This locus represents naturally occurring read-through transcription between the neighboring NPHP3 (nephronophthisis 3, adolescent) and ACAD11 (acyl-CoA dehydrogenase family, member 11) genes on chromosome 3. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product. [provided by RefSeq, Feb 2011]

NPHP3-AS1 Gene

NPHP3 antisense RNA 1

NPHP3 Gene

nephronophthisis 3 (adolescent)

This gene encodes a protein containing a coiled-coil (CC) domain, a tubulin-tyrosine ligase (TTL) domain, and a tetratrico peptide repeat (TPR) domain. The encoded protein interacts with nephrocystin, it is required for normal ciliary development, and it functions in renal tubular development. Mutations in this gene are associated with nephronophthisis type 3, and also with renal-hepatic-pancreatic dysplasia, and Meckel syndrome type 7. Naturally occurring read-through transcripts exist between this gene and the downstream ACAD11 (acyl-CoA dehydrogenase family, member 11) gene. [provided by RefSeq, Feb 2011]

NPHP1 Gene

nephronophthisis 1 (juvenile)

This gene encodes a protein with src homology domain 3 (SH3) patterns. This protein interacts with Crk-associated substrate, and it appears to function in the control of cell division, as well as in cell-cell and cell-matrix adhesion signaling, likely as part of a multifunctional complex localized in actin- and microtubule-based structures. Mutations in this gene cause familial juvenile nephronophthisis type 1, a kidney disorder involving both tubules and glomeruli. Defects in this gene are also associated with Senior-Loken syndrome type 1, also referred to as juvenile nephronophthisis with Leber amaurosis, which is characterized by kidney and eye disease, and with Joubert syndrome type 4, which is characterized by cerebellar ataxia, oculomotor apraxia, psychomotor delay and neonatal breathing abnormalities, sometimes including retinal dystrophy and renal disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

NPHP4 Gene

nephronophthisis 4

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. [provided by RefSeq, Apr 2014]

nphp Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term nphp in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

nphp8rpgrip1l Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term nphp8rpgrip1l in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

nphp2 Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term nphp2 in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

nphp3 Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term nphp3 in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

nphp1 Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term nphp1 in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

nphp7 Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term nphp7 in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

nphp6 Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term nphp6 in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

nphp5 Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term nphp5 in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

nphp4 Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term nphp4 in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

nphp9 Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term nphp9 in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

nphp8 Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term nphp8 in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

NPHP3 Gene Set

From Pathway Commons Protein-Protein Interactions

interacting proteins for NPHP3 from the Pathway Commons Protein-Protein Interactions dataset.

NPHP4 Gene Set

From Pathway Commons Protein-Protein Interactions

interacting proteins for NPHP4 from the Pathway Commons Protein-Protein Interactions dataset.

NPHP1 Gene Set

From Pathway Commons Protein-Protein Interactions

interacting proteins for NPHP1 from the Pathway Commons Protein-Protein Interactions dataset.