Gene: NPHP3

Alternate names for this Gene: CFAP31|MKS7|NPH3|RHPD|RHPD1|SLSN3

Gene Summary: 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.

Gene is located in Chromosome: 3

Location in Chromosome : 3q22.1

Description of this Gene: nephrocystin 3

Type of Gene: protein-coding

Gene: NPHP3-ACAD11

Alternate names for this Gene: NPHP3

Gene Summary: 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.

Gene is located in Chromosome: 3

Location in Chromosome : 3q22.1

Description of this Gene: NPHP3-ACAD11 readthrough (NMD candidate)

Type of Gene: ncRNA

rs142021049 in NPHP3;NPHP3-ACAD11 gene and NEPHRONOPHTHISIS 3 PMID 12872122 2003 Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.

rs119456959 in NPHP3;NPHP3-ACAD11 gene and Nephronophthisis PMID 12872122 2003 Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.

PMID 19303681 2009 Lethal cystic kidney disease in Amish neonates associated with homozygous nonsense mutation of NPHP3.

rs572076167 in NPHP3;NPHP3-ACAD11 gene and Tonometry PMID 29617998 2018 Genome-wide association analyses identify new loci influencing intraocular pressure.