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

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

rs17348614 in NPHP3-ACAD11;NPHP3 gene and Finding of Mean Corpuscular Hemoglobin PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs17348614 in NPHP3-ACAD11;NPHP3 gene and Mean Corpuscular Volume (result) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs202048210 in NPHP3-ACAD11;NPHP3 gene and NEPHRONOPHTHISIS 3 PMID 12872122 2003 Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.

rs201237799 in NPHP3-ACAD11;NPHP3 gene and Nephronophthisis PMID 19177160 2009 Mutations of NPHP2 and NPHP3 in infantile nephronophthisis.

PMID 18371931 2008 Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia.

PMID 26673778 2016 Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies.

PMID 23559409 2013 Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.

PMID 20007846 2010 Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping.

rs751527253 in NPHP3-ACAD11;NPHP3 gene and RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 PMID 18371931 2008 Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia.

PMID 20007846 2010 Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping.

PMID 27894351 2016 Characterizing the morbid genome of ciliopathies.

rs751527253 in NPHP3-ACAD11;NPHP3 gene and Situs Inversus PMID 18371931 2008 Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia.

PMID 20007846 2010 Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping.

PMID 27894351 2016 Characterizing the morbid genome of ciliopathies.