NPHP3 (nephrocystin 3)

2014-11-01  

Identity

HGNC
LOCATION
3q22.1
LOCUSID
ALIAS
CFAP31,MKS7,NPH3,RHPD,RHPD1,SLSN3
FUSION GENES

Other Information

Locus ID:

NCBI: 27031
MIM: 608002
HGNC: 7907
Ensembl: ENSG00000113971

Variants:

dbSNP: 27031
ClinVar: 27031
TCGA: ENSG00000113971
COSMIC: NPHP3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000113971ENST00000337331Q7Z494
ENSG00000113971ENST00000383282Q7Z494
ENSG00000113971ENST00000465756F2Z3A8
ENSG00000113971ENST00000469232A0A0C4DG93
ENSG00000113971ENST00000512094H0YAM4

Expression (GTEx)

0
10
20
30
40
50
60
70

Pathways

PathwaySourceExternal ID
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Cilium AssemblyREACTOMER-HSA-5617833
Cargo trafficking to the periciliary membraneREACTOMER-HSA-5620920
Trafficking of myristoylated proteins to the ciliumREACTOMER-HSA-5624138

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
183719312008Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia.112
128721222003Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.108
237930292013ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3.71
178556402007Evidence of oligogenic inheritance in nephronophthisis.63
210681282011Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.60
191771602009Mutations of NPHP2 and NPHP3 in infantile nephronophthisis.31
193036812009Lethal cystic kidney disease in Amish neonates associated with homozygous nonsense mutation of NPHP3.6
261847882016High mutation rate of NPHP3 in 18 Chinese infantile nephronophthisis patients.3
283924752017A familial case of severe infantile nephronophthisis explained by oligogenic inheritance.3
236869672013Renal-hepatic-pancreatic dysplasia: a sibship with skeletal and central nervous system anomalies and NPHP3 mutation.1

Citation

Dessen P

NPHP3 (nephrocystin 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70924/nphp3