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NPHS2 (NPHS2, podocin)

Identity

Alias_namesnephrosis 2
Alias_symbol (synonym)SRN1
PDCN
Other alias
HGNC (Hugo) NPHS2
LocusID (NCBI) 7827
Atlas_Id 55634
Location 1q25.2  [Link to chromosome band 1q25]
Location_base_pair Starts at 179550539 and ends at 179575952 bp from pter ( according to hg38-Dec_2013)

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)NPHS2   13394
LRG (Locus Reference Genomic)LRG_887
Cards
Entrez_Gene (NCBI)NPHS2  7827  NPHS2, podocin
AliasesPDCN; SRN1
GeneCards (Weizmann)NPHS2
Ensembl hg19 (Hinxton)ENSG00000116218 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000116218 [Gene_View]  chr1:179550539-179575952 [Contig_View]  NPHS2 [Vega]
ICGC DataPortalENSG00000116218
TCGA cBioPortalNPHS2
AceView (NCBI)NPHS2
Genatlas (Paris)NPHS2
WikiGenes7827
SOURCE (Princeton)NPHS2
Genetics Home Reference (NIH)NPHS2
Genomic and cartography
GoldenPath hg38 (UCSC)NPHS2  -     chr1:179550539-179575952 -  1q25.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NPHS2  -     1q25.2   [Description]    (hg19-Feb_2009)
EnsemblNPHS2 - 1q25.2 [CytoView hg19]  NPHS2 - 1q25.2 [CytoView hg38]
Mapping of homologs : NCBINPHS2 [Mapview hg19]  NPHS2 [Mapview hg38]
OMIM600995   604766   
Gene and transcription
Genbank (Entrez)AJ279254 BC029141 BI831348 BX095913
RefSeq transcript (Entrez)NM_001297575 NM_014625
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NPHS2
Cluster EST : UnigeneHs.658505 [ NCBI ]
CGAP (NCI)Hs.658505
Alternative Splicing GalleryENSG00000116218
Gene ExpressionNPHS2 [ NCBI-GEO ]   NPHS2 [ EBI - ARRAY_EXPRESS ]   NPHS2 [ SEEK ]   NPHS2 [ MEM ]
Gene Expression Viewer (FireBrowse)NPHS2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7827
GTEX Portal (Tissue expression)NPHS2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NP85   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NP85  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NP85
Splice isoforms : SwissVarQ9NP85
PhosPhoSitePlusQ9NP85
Domaine pattern : Prosite (Expaxy)BAND_7 (PS01270)   
Domains : Interpro (EBI)Band_7    Band_7/stomatin-like_CS    Podocin    Stomatin_fam   
Domain families : Pfam (Sanger)Band_7 (PF01145)   
Domain families : Pfam (NCBI)pfam01145   
Domain families : Smart (EMBL)PHB (SM00244)  
Conserved Domain (NCBI)NPHS2
DMDM Disease mutations7827
Blocks (Seattle)NPHS2
SuperfamilyQ9NP85
Human Protein AtlasENSG00000116218
Peptide AtlasQ9NP85
HPRD05303
IPIIPI00014594   IPI00219955   
Protein Interaction databases
DIP (DOE-UCLA)Q9NP85
IntAct (EBI)Q9NP85
FunCoupENSG00000116218
BioGRIDNPHS2
STRING (EMBL)NPHS2
ZODIACNPHS2
Ontologies - Pathways
QuickGOQ9NP85
Ontology : AmiGOprotein binding  endoplasmic reticulum  plasma membrane  integral component of plasma membrane  cell-cell junction  excretion  intrinsic component of the cytoplasmic side of the plasma membrane  actin cytoskeleton reorganization  slit diaphragm  protein complex  membrane raft  extracellular exosome  metanephric glomerular visceral epithelial cell development  
Ontology : EGO-EBIprotein binding  endoplasmic reticulum  plasma membrane  integral component of plasma membrane  cell-cell junction  excretion  intrinsic component of the cytoplasmic side of the plasma membrane  actin cytoskeleton reorganization  slit diaphragm  protein complex  membrane raft  extracellular exosome  metanephric glomerular visceral epithelial cell development  
NDEx NetworkNPHS2
Atlas of Cancer Signalling NetworkNPHS2
Wikipedia pathwaysNPHS2
Orthology - Evolution
OrthoDB7827
GeneTree (enSembl)ENSG00000116218
Phylogenetic Trees/Animal Genes : TreeFamNPHS2
HOVERGENQ9NP85
HOGENOMQ9NP85
Homologs : HomoloGeneNPHS2
Homology/Alignments : Family Browser (UCSC)NPHS2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNPHS2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NPHS2
dbVarNPHS2
ClinVarNPHS2
1000_GenomesNPHS2 
Exome Variant ServerNPHS2
ExAC (Exome Aggregation Consortium)NPHS2 (select the gene name)
Genetic variants : HAPMAP7827
Genomic Variants (DGV)NPHS2 [DGVbeta]
DECIPHERNPHS2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNPHS2 
Mutations
ICGC Data PortalNPHS2 
TCGA Data PortalNPHS2 
Broad Tumor PortalNPHS2
OASIS PortalNPHS2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNPHS2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNPHS2
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
BioMutasearch NPHS2
DgiDB (Drug Gene Interaction Database)NPHS2
DoCM (Curated mutations)NPHS2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NPHS2 (select a term)
intoGenNPHS2
Cancer3DNPHS2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600995    604766   
Orphanet12197    12195    12193    12191   
MedgenNPHS2
Genetic Testing Registry NPHS2
NextProtQ9NP85 [Medical]
TSGene7827
GENETestsNPHS2
Huge Navigator NPHS2 [HugePedia]
snp3D : Map Gene to Disease7827
BioCentury BCIQNPHS2
ClinGenNPHS2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD7827
Chemical/Pharm GKB GenePA31710
Clinical trialNPHS2
Miscellaneous
canSAR (ICR)NPHS2 (select the gene name)
Probes
Litterature
PubMed129 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNPHS2
EVEXNPHS2
GoPubMedNPHS2
iHOPNPHS2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 12:29:03 CEST 2017

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