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Gene: NPHP4 (nephrocystin 4) Homo sapiens
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Symbol: NPHP4
Name: nephrocystin 4
Description: Involved in negative regulation of canonical Wnt signaling pathway and positive regulation of bicellular tight junction assembly. Localizes to several cellular components, including the cell-cell junction; centrosome; and nuclear body. Implicated in Joubert syndrome 4; Senior-Loken syndrome; congenital heart disease; nephronophthisis; and nephronophthisis 4.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: FLJ46306; KIAA0673; nephrocystin-4; nephronophthisis 4; nephroretinin; POC10; POC10 centriolar protein homolog; SLSN4
Orthologs:
Mus musculus (house mouse) : Nphp4 (nephronophthisis 4 (juvenile) homolog (human))  MGI  Alliance
Rattus norvegicus (Norway rat) : Nphp4 (nephrocystin 4)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Nphp4 (nephrocystin 4)
Pan paniscus (bonobo/pygmy chimpanzee) : NPHP4 (nephrocystin 4)
Canis lupus familiaris (dog) : NPHP4 (nephrocystin 4)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Nphp4 (nephrocystin 4)
Sus scrofa (pig) : NPHP4 (nephrocystin 4)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3815,862,810 - 5,992,425 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh3715,922,870 - 6,052,618 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3615,845,457 - 5,975,118 (-)NCBINCBI36hg18NCBI36
Build 3415,857,135 - 5,986,797NCBI
Celera15,037,702 - 5,167,377 (-)NCBI
Cytogenetic Map1p36.31NCBI
HuRef15,071,502 - 5,201,940 (-)NCBIHuRef
CHM1_115,911,566 - 6,041,216 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression


Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on NPHP4
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1351118
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2019-11-05
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.