Gene

nphp3

ID
ZDB-GENE-091204-117
Name
nephronophthisis 3
Symbol
nphp3 Nomenclature History
Previous Names
  • si:dkey-56l10.1
Type
protein_coding_gene
Location
Chr: 24 Mapping Details/Browsers
Description
Involved in several processes, including Kupffer's vesicle development; left/right pattern formation; and morphogenesis of an epithelium. Predicted to localize to cilium. Human ortholog(s) of this gene implicated in Meckel syndrome 7; Senior-Loken syndrome; nephronophthisis; nephronophthisis 3; and renal-hepatic-pancreatic dysplasia. Orthologous to human NPHP3 (nephrocystin 3).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
No data available
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
6 figures from 3 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With nphp3 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Meckel syndrome 7 Alliance Meckel syndrome 7 267010
nephronophthisis 3 Alliance Nephronophthisis 3 604387
renal-hepatic-pancreatic dysplasia Alliance Renal-hepatic-pancreatic dysplasia 1 208540
Associated With nphp3 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Homologous_superfamily IPR011990 Tetratricopeptide-like helical domain superfamily
Homologous_superfamily IPR027417 P-loop containing nucleoside triphosphate hydrolase
Repeat IPR019734 Tetratricopeptide repeat
Domain Details Per Protein
Protein Length P-loop containing nucleoside triphosphate hydrolase Tetratricopeptide-like helical domain superfamily Tetratricopeptide repeat
UniProtKB:P0CI65
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations