Gene

nphp4

ID
ZDB-GENE-060503-715
Name
nephronophthisis 4
Symbol
nphp4 Nomenclature History
Previous Names
  • si:ch211-55k22.1
  • si:ch211-55k22.2
  • si:dkey-202c5.1
Type
protein_coding_gene
Location
Chr: 8 Mapping Details/Browsers
Description
Acts upstream of or within several processes, including determination of left/right symmetry; regulation of Wnt signaling pathway; and urogenital system development. Predicted to be located in cytoskeleton. Predicted to be active in several cellular components, including ciliary basal body; ciliary base; and ciliary transition zone. Is expressed in blastomere. Human ortholog(s) of this gene implicated in Joubert syndrome 4; Senior-Loken syndrome; congenital heart disease; nephronophthisis; and nephronophthisis 4. Orthologous to human NPHP4 (nephrocystin 4).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
3 figures from 3 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
20 figures from 4 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With nphp4 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
nephronophthisis 4 Alliance Nephronophthisis 4 606966
Senior-Loken syndrome Alliance Senior-Loken syndrome 4 606996
Associated With nphp4 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Family IPR029775 Nephrocystin-4
Domain Details Per Protein
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