NPHP3 nephrocystin 3
Gene info
Synonyms
NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31
Previous symbol
None
External ID
HGNC: 7907
Entrez Gene: 27031
Ensembl: ENSG00000113971
UCSC: uc003epe.3
OMIM:
608002
UniProtKB:
Q7Z494
Disease info
Disease
CHD Phenotype
- Atrial septal defect
- Patent ductus arteriosus
- Aortic stenosis
- Dysplastic mitral valve
Extra Cardiac Phenotype
None
Incomplete penetrance
Unknown
Variable expressivity
Unknown
Animal model
Mouse study
Homozygous null mouse has CHD
MGI ID
Variant info
Clinvar
Selected variant
The Clinvar variants presented in the below IGV track were selected based on the following criteria.
- Variant types are single nucleotide variant or Indel
- Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
- ClinVar review status for the variant is criteria provided
Download annotation file for NPHP3: BED file
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Selected References
- Bergmann, C., Fliegauf, M., Brüchle, N. O., Frank, V., Olbrich, H., Kirschner, J., Schermer, B., Schmedding, I., Kispert, A., Kränzlin, B., Nürnberg, G., Becker, C., Grimm, T., Girschick, G., Lynch, S. A., Kelehan, P., Senderek, J., Neuhaus, T. J., Stallmach, T., … Omran, H. (2008). Loss of Nephrocystin-3 Function Can Cause Embryonic Lethality, Meckel-Gruber-like Syndrome, Situs Inversus, and Renal-Hepatic-Pancreatic Dysplasia. The American Journal of Human Genetics, 82(4), 959–970. https://doi.org/10.1016/j.ajhg.2008.02.017 DOI:10.1016/j.ajhg.2008.02.017 PMID:18371931
- Simpson, M. A., Cross, H. E., Cross, L., Helmuth, M., & Crosby, A. H. (2009). Lethal Cystic Kidney Disease in Amish Neonates Associated With Homozygous Nonsense Mutation of NPHP3. American Journal of Kidney Diseases, 53(5), 790–795. https://doi.org/10.1053/j.ajkd.2008.12.026 DOI:10.1053/j.ajkd.2008.12.026 PMID:19303681
- Tory, K., Rousset-Rouvière, C., Gubler, M.-C., Morinière, V., Pawtowski, A., Becker, C., Guyot, C., Gié, S., Frishberg, Y., Nivet, H., Deschênes, G., Cochat, P., Gagnadoux, M.-F., Saunier, S., Antignac, C., & Salomon, R. (2009). Mutations of NPHP2 and NPHP3 in infantile nephronophthisis. Kidney International, 75(8), 839–847. https://doi.org/10.1038/ki.2008.662 DOI:10.1038/ki.2008.662 PMID:19177160