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NPHP4 (nephrocystin 4)

Identity

Alias_namesnephronophthisis 4
Alias_symbol (synonym)SLSN4
KIAA0673
POC10
Other alias
HGNC (Hugo) NPHP4
LocusID (NCBI) 261734
Atlas_Id 56220
Location 1p36.31  [Link to chromosome band 1p36]
Location_base_pair Starts at 5862808 and ends at 5992473 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ACOT7 (1p36.31) / NPHP4 (1p36.31)NPHP4 (1p36.31) / ACOT7 (1p36.31)NPHP4 (1p36.31) / NPHP4 (1p36.31)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)NPHP4   19104
Cards
Entrez_Gene (NCBI)NPHP4  261734  nephrocystin 4
AliasesPOC10; SLSN4
GeneCards (Weizmann)NPHP4
Ensembl hg19 (Hinxton)ENSG00000131697 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000131697 [Gene_View]  chr1:5862808-5992473 [Contig_View]  NPHP4 [Vega]
ICGC DataPortalENSG00000131697
TCGA cBioPortalNPHP4
AceView (NCBI)NPHP4
Genatlas (Paris)NPHP4
WikiGenes261734
SOURCE (Princeton)NPHP4
Genetics Home Reference (NIH)NPHP4
Genomic and cartography
GoldenPath hg38 (UCSC)NPHP4  -     chr1:5862808-5992473 -  1p36.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NPHP4  -     1p36.31   [Description]    (hg19-Feb_2009)
EnsemblNPHP4 - 1p36.31 [CytoView hg19]  NPHP4 - 1p36.31 [CytoView hg38]
Mapping of homologs : NCBINPHP4 [Mapview hg19]  NPHP4 [Mapview hg38]
OMIM606966   606996   607215   
Gene and transcription
Genbank (Entrez)AB014573 AF537130 AK124074 AK127333 AK128182
RefSeq transcript (Entrez)NM_001291593 NM_001291594 NM_015102
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NPHP4
Cluster EST : UnigeneHs.462348 [ NCBI ]
CGAP (NCI)Hs.462348
Alternative Splicing GalleryENSG00000131697
Gene ExpressionNPHP4 [ NCBI-GEO ]   NPHP4 [ EBI - ARRAY_EXPRESS ]   NPHP4 [ SEEK ]   NPHP4 [ MEM ]
Gene Expression Viewer (FireBrowse)NPHP4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)261734
GTEX Portal (Tissue expression)NPHP4
Protein : pattern, domain, 3D structure
UniProt/SwissProtO75161   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO75161  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO75161
Splice isoforms : SwissVarO75161
PhosPhoSitePlusO75161
Domains : Interpro (EBI)NPHP4   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)NPHP4
DMDM Disease mutations261734
Blocks (Seattle)NPHP4
SuperfamilyO75161
Human Protein AtlasENSG00000131697
Peptide AtlasO75161
HPRD06238
IPIIPI00176920   IPI00418654   IPI00748979   IPI00967644   IPI00647868   
Protein Interaction databases
DIP (DOE-UCLA)O75161
IntAct (EBI)O75161
FunCoupENSG00000131697
BioGRIDNPHP4
STRING (EMBL)NPHP4
ZODIACNPHP4
Ontologies - Pathways
QuickGOO75161
Ontology : AmiGOstructural molecule activity  protein binding  nucleus  centrosome  cytosol  cell-cell junction  bicellular tight junction  signal transduction  visual behavior  membrane  single organismal cell-cell adhesion  actin cytoskeleton organization  flagellated sperm motility  photoreceptor connecting cilium  hippo signaling  photoreceptor cell outer segment organization  ciliary basal body  photoreceptor cell maintenance  retina development in camera-type eye  negative regulation of canonical Wnt signaling pathway  ribbon synapse  ciliary base  ciliary basal body docking  positive regulation of bicellular tight junction assembly  
Ontology : EGO-EBIstructural molecule activity  protein binding  nucleus  centrosome  cytosol  cell-cell junction  bicellular tight junction  signal transduction  visual behavior  membrane  single organismal cell-cell adhesion  actin cytoskeleton organization  flagellated sperm motility  photoreceptor connecting cilium  hippo signaling  photoreceptor cell outer segment organization  ciliary basal body  photoreceptor cell maintenance  retina development in camera-type eye  negative regulation of canonical Wnt signaling pathway  ribbon synapse  ciliary base  ciliary basal body docking  positive regulation of bicellular tight junction assembly  
NDEx NetworkNPHP4
Atlas of Cancer Signalling NetworkNPHP4
Wikipedia pathwaysNPHP4
Orthology - Evolution
OrthoDB261734
GeneTree (enSembl)ENSG00000131697
Phylogenetic Trees/Animal Genes : TreeFamNPHP4
HOVERGENO75161
HOGENOMO75161
Homologs : HomoloGeneNPHP4
Homology/Alignments : Family Browser (UCSC)NPHP4
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNPHP4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NPHP4
dbVarNPHP4
ClinVarNPHP4
1000_GenomesNPHP4 
Exome Variant ServerNPHP4
ExAC (Exome Aggregation Consortium)NPHP4 (select the gene name)
Genetic variants : HAPMAP261734
Genomic Variants (DGV)NPHP4 [DGVbeta]
DECIPHERNPHP4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNPHP4 
Mutations
ICGC Data PortalNPHP4 
TCGA Data PortalNPHP4 
Broad Tumor PortalNPHP4
OASIS PortalNPHP4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNPHP4  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNPHP4
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Eye diseases - LOVD
BioMutasearch NPHP4
DgiDB (Drug Gene Interaction Database)NPHP4
DoCM (Curated mutations)NPHP4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NPHP4 (select a term)
intoGenNPHP4
Cancer3DNPHP4(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606966    606996    607215   
Orphanet2824    12427   
MedgenNPHP4
Genetic Testing Registry NPHP4
NextProtO75161 [Medical]
TSGene261734
GENETestsNPHP4
Target ValidationNPHP4
Huge Navigator NPHP4 [HugePedia]
snp3D : Map Gene to Disease261734
BioCentury BCIQNPHP4
ClinGenNPHP4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD261734
Chemical/Pharm GKB GenePA134927048
Clinical trialNPHP4
Miscellaneous
canSAR (ICR)NPHP4 (select the gene name)
Probes
Litterature
PubMed45 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNPHP4
EVEXNPHP4
GoPubMedNPHP4
iHOPNPHP4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 25 19:22:32 CEST 2017

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