NPHP4 (nephrocystin 4)

2016-10-01  

Identity

HGNC
LOCATION
1p36.31
LOCUSID
ALIAS
POC10,SLSN4
FUSION GENES

Other Information

Locus ID:

NCBI: 261734
MIM: 607215
HGNC: 19104
Ensembl: ENSG00000131697

Variants:

dbSNP: 261734
ClinVar: 261734
TCGA: ENSG00000131697
COSMIC: NPHP4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000131697ENST00000378156O75161
ENSG00000131697ENST00000378169D6RA06
ENSG00000131697ENST00000466897H0YA08
ENSG00000131697ENST00000489180O75161
ENSG00000131697ENST00000622020O75161

Expression (GTEx)

0
5
10
15
20
25

Pathways

PathwaySourceExternal ID
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Cilium AssemblyREACTOMER-HSA-5617833
Anchoring of the basal body to the plasma membraneREACTOMER-HSA-5620912
Signal TransductionREACTOMER-HSA-162582
Signaling by HippoREACTOMER-HSA-2028269

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
178556402007Evidence of oligogenic inheritance in nephronophthisis.63
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
210681282011Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.60
163399052005Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations.59
156617582005Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes.56
226541122012The ciliary protein nephrocystin-4 translocates the canonical Wnt regulator Jade-1 to the nucleus to negatively regulate β-catenin signaling.24
176729182007Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns.17
281343402017KIF13B establishes a CAV1-enriched microdomain at the ciliary transition zone to promote Sonic hedgehog signalling.17
283924752017A familial case of severe infantile nephronophthisis explained by oligogenic inheritance.3
122055632002A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution.0

Citation

Dessen P

NPHP4 (nephrocystin 4)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56220/nphp4