Homo sapiens Gene: NPHP4
Summary
InnateDB Gene IDBG-87072.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol NPHP4
Gene Name nephronophthisis 4
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000131697
Encoded Proteins
nephronophthisis 4
nephronophthisis 4
nephronophthisis 4
nephronophthisis 4
nephronophthisis 4
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a protein involved in renal tubular development and function. This protein interacts with nephrocystin, and belongs to a multifunctional complex that is localized to actin- and microtubule-based structures. Mutations in this gene are associated with nephronophthisis type 4, a renal disease, and with Senior-Loken syndrome type 4, a combination of nephronophthisis and retinitis pigmentosa. [provided by RefSeq, Feb 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:5862810-5992473
Strand Reverse strand
Band p36.31
Transcripts
ENST00000378169 ENSP00000367411
ENST00000378161
ENST00000378156 ENSP00000367398
ENST00000478423
ENST00000460696
ENST00000489180 ENSP00000423747
ENST00000468253
ENST00000506941
ENST00000470763
ENST00000466897 ENSP00000425745
ENST00000622020 ENSP00000481831
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
They are also associated with 185 interaction(s) predicted by orthology.
Experimentally validated
Total 5 [view]
Protein-Protein 5 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 185 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005198 structural molecule activity
GO:0005515 protein binding
Biological Process
GO:0007165 signal transduction
GO:0007632 visual behavior
GO:0016337 single organismal cell-cell adhesion
GO:0030036 actin cytoskeleton organization
GO:0035329 hippo signaling
GO:0060041 retina development in camera-type eye
Cellular Component
GO:0005813 centrosome
GO:0005829 cytosol
GO:0005911 cell-cell junction
GO:0005923 tight junction
GO:0005929 cilium
GO:0016020 membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Signaling by Hippo pathway
Signal Transduction pathway
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.462348 Hs.739983
RefSeq NM_001291593 NM_015102 XM_006710563 XM_006710564 XM_006710565 XM_006710566 XM_006710567 XM_006710570
HUGO
OMIM
CCDS CCDS44052
HPRD 06238
IMGT
EMBL
GenPept
RNA Seq Atlas