Nphp3
Gene Detail

Symbol Name ID

Nphp3 nephronophthisis 3 (adolescent) MGI:1921275

Synonyms

3632410F03Rik, D330020E01Rik, nephrocystin 3, pcy

Feature Type

protein coding gene

Genetic Map

Chromosome 9

56.11 cM
Detailed Genetic Map ± 1 cM


Mapping data(9)

Sequence Map

Chr9:104002544-104043730 bp, + strand From VEGA annotation of GRCm38   41187 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:32697  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Nphp3

Human homologs

Human Homolog		NPHP3, nephronophthisis 3 (adolescent)
NCBI Gene ID		27031
neXtProt AC		NX_Q7Z494
Human Synonyms		MKS7, NPH3, RHPD
Human Chr (Location)		3q22.1; chr3:132399453-132441303 (-)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human NPHP3

Alleles and phenotypes

All alleles(4) : Targeted(1) Gene trapped(1) Spontaneous(1) Chemically induced(1)
 

Homozygous hypomorphic mice display slowly progressing kidney cysts, enlarged kidneys, increased blood urea nitrogen, kidney inflammation and associated fibrosis, and premature death. Homozygous null mice display mid gestational lethality with partial penetrance of situs inversus.

 
Human Diseases Modeled Using Mouse Nphp3 (1)    Alleles Annotated to Human Diseases(2)   

Gene Ontology (GO) classifications

All GO classifications: (28 annotations)

Process	atrial septum development, cilium morphogenesis, ...
Component	cell projection, cilium, ...
Function	molecular_function

External Resources: FuncBase

Expression

Literature Summary: (3 records)
Data Summary: Results (3)    Tissues (1)   
Theiler Stages: 20

Assay Type	Results
Western blot	3

cDNA source data(25)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(25) cDNA(25)
Microarray probesets(4)

Other database links

VEGA Gene Model	OTTMUSG00000031730 (Evidence)
Ensembl Gene Model	ENSMUSG00000032558 (Evidence)
Entrez Gene	74025 (Evidence)
UniGene	479273
DoTS	DT.101132155, DT.60103446, DT.91423749, DT.97405904
Consensus CDS Project	CCDS40749.1
International Mouse Knockout Project Status	Nphp3

Sequences

Length	Strain/Species
genomic	OTTMUSG00000031730	VEGA Gene Model | MGI Sequence Detail	41187	C57BL/6J
transcript	OTTMUST00000078589	VEGA | MGI Sequence Detail	5811	Not Applicable
polypeptide	OTTMUSP00000041811	VEGA | MGI Sequence Detail	1325	Not Applicable

All sequences(45) RefSeq(4) UniProt(5)

Polymorphisms

SNPs(162 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR027417	P-loop containing nucleoside triphosphate hydrolase
InterPro	IPR011990	Tetratricopeptide-like helical
InterPro	IPR019734	Tetratricopeptide repeat
InterPro	IPR013026	Tetratricopeptide repeat-containing domain
Protein Ontology	PR:000011363	nephrocystin-3

References

(Earliest) J:8302 Takahashi H, et al., A new mouse model of genetically transmitted polycystic kidney disease. J Urol. 1986 Jun;135(6):1280-3
(Latest) J:188633 Ghosh AK, et al., 3D spheroid defects in NPHP knockdown cells are rescued by the somatostatin receptor agonist octreotide. Am J Physiol Renal Physiol. 2012 Oct;303(8):F1225-9
All references(54)

Other accession IDs

MGD-MRK-13202, MGI:2143088, MGI:2442457, MGI:97521