Identity
HGNC
LOCATION
3q22.1
LOCUSID
ALIAS
CFAP31,MKS7,NPH3,RHPD,RHPD1,SLSN3
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 27031
MIM: 608002
HGNC: 7907
Ensembl: ENSG00000113971
Variants:
dbSNP: 27031
ClinVar: 27031
TCGA: ENSG00000113971
COSMIC: NPHP3
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36498831 | 2022 | HeLa Cervical Cancer Cells Are Maintained by Nephronophthisis 3-Associated Primary Cilium Formation via ROS-Induced ERK and HIF-1α Activation under Serum-Deprived Normoxic Condition. | 3 |
| 36498831 | 2022 | HeLa Cervical Cancer Cells Are Maintained by Nephronophthisis 3-Associated Primary Cilium Formation via ROS-Induced ERK and HIF-1α Activation under Serum-Deprived Normoxic Condition. | 3 |
| 34212438 | 2021 | A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families. | 7 |
| 34212438 | 2021 | A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families. | 7 |
| 32173348 | 2020 | Clinical and pathological features and varied mutational spectra of pathogenic genes in 55 Chinese patients with nephronophthisis. | 5 |
| 32173348 | 2020 | Clinical and pathological features and varied mutational spectra of pathogenic genes in 55 Chinese patients with nephronophthisis. | 5 |
| 31048733 | 2019 | Thymosin β-4 is a novel regulator for primary cilium formation by nephronophthisis 3 in HeLa human cervical cancer cells. | 10 |
| 31048733 | 2019 | Thymosin β-4 is a novel regulator for primary cilium formation by nephronophthisis 3 in HeLa human cervical cancer cells. | 10 |
| 28392475 | 2017 | A familial case of severe infantile nephronophthisis explained by oligogenic inheritance. | 4 |
| 28921755 | 2017 | Homozygous mutation in the NPHP3 gene causing foetal nephronophthisis. | 2 |
| 28392475 | 2017 | A familial case of severe infantile nephronophthisis explained by oligogenic inheritance. | 4 |
| 28921755 | 2017 | Homozygous mutation in the NPHP3 gene causing foetal nephronophthisis. | 2 |
| 26184788 | 2016 | High mutation rate of NPHP3 in 18 Chinese infantile nephronophthisis patients. | 8 |
| 26184788 | 2016 | High mutation rate of NPHP3 in 18 Chinese infantile nephronophthisis patients. | 8 |
| 24776604 | 2014 | NPHP3 mutations are associated with neonatal onset multiorgan polycystic disease in two siblings. | 1 |
Citation
Dessen P
NPHP3 (nephrocystin 3)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/70924/meetings/
