Identity
HGNC
LOCATION
1p36.31
LOCUSID
ALIAS
POC10,SLSN4
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: 261734
MIM: 607215
HGNC: 19104
Ensembl: ENSG00000131697
Variants:
dbSNP: 261734
ClinVar: 261734
TCGA: ENSG00000131697
COSMIC: NPHP4
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37831349 | 2024 | A novel NPHP4 homozygous missense variant identified in infertile brothers with multiple morphological abnormalities of the sperm flagella. | 0 |
| 37831349 | 2024 | A novel NPHP4 homozygous missense variant identified in infertile brothers with multiple morphological abnormalities of the sperm flagella. | 0 |
| 34591160 | 2022 | Association of Nephronophthisis 4 genetic variation with cardiorenal syndrome and cardiovascular events in Japanese general population: the Yamagata (Takahata) study. | 1 |
| 34591160 | 2022 | Association of Nephronophthisis 4 genetic variation with cardiorenal syndrome and cardiovascular events in Japanese general population: the Yamagata (Takahata) study. | 1 |
| 33512896 | 2021 | SENIOR-LØKEN SYNDROME: A Case Series and Review of the Renoretinal Phenotype and Advances of Molecular Diagnosis. | 2 |
| 33512896 | 2021 | SENIOR-LØKEN SYNDROME: A Case Series and Review of the Renoretinal Phenotype and Advances of Molecular Diagnosis. | 2 |
| 31810733 | 2020 | Adult-Diagnosed Nonsyndromic Nephronophthisis in Australian Families Caused by Biallelic NPHP4 Variants. | 7 |
| 31810733 | 2020 | Adult-Diagnosed Nonsyndromic Nephronophthisis in Australian Families Caused by Biallelic NPHP4 Variants. | 7 |
| 28134340 | 2017 | KIF13B establishes a CAV1-enriched microdomain at the ciliary transition zone to promote Sonic hedgehog signalling. | 37 |
| 28392475 | 2017 | A familial case of severe infantile nephronophthisis explained by oligogenic inheritance. | 4 |
| 28134340 | 2017 | KIF13B establishes a CAV1-enriched microdomain at the ciliary transition zone to promote Sonic hedgehog signalling. | 37 |
| 28392475 | 2017 | A familial case of severe infantile nephronophthisis explained by oligogenic inheritance. | 4 |
| 23574405 | 2014 | NPHP4 mutation is linked to cerebello-oculo-renal syndrome and male infertility. | 10 |
| 23574405 | 2014 | NPHP4 mutation is linked to cerebello-oculo-renal syndrome and male infertility. | 10 |
| 22550138 | 2012 | NPHP4 variants are associated with pleiotropic heart malformations. | 22 |
Citation
Dessen P
NPHP4 (nephrocystin 4)
Atlas Genet Cytogenet Oncol Haematol. 2016-10-01
Online version: http://atlasgeneticsoncology.org/gene/56220/nphp4-(nephrocystin-4)
