Atlas of Genetics and Cytogenetics in Oncology and Haematology

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NCF4 (neutrophil cytosolic factor 4)

Identity

Alias_namesneutrophil cytosolic factor 4 (40kD)
neutrophil cytosolic factor 4, 40kDa
Alias_symbol (synonym)p40phox
SH3PXD4
Other aliasCGD3
NCF
P40PHOX
HGNC (Hugo) NCF4
LocusID (NCBI) 4689
Atlas_Id 52301
Location 22q12.3  [Link to chromosome band 22q12]
Location_base_pair Starts at 36860988 and ends at 36878017 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
NCF4 (22q12.3) / NCF4 (22q12.3)UBAP2 (9p13.3) / NCF4 (22q12.3)UBAP2 9p13.3 / NCF4 22q12.3

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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(9;22)(p13;q12) UBAP2/NCF4

External links

Nomenclature
HGNC (Hugo)NCF4   7662
LRG (Locus Reference Genomic)LRG_159
Cards
Entrez_Gene (NCBI)NCF4  4689  neutrophil cytosolic factor 4
AliasesCGD3; NCF; P40PHOX; SH3PXD4
GeneCards (Weizmann)NCF4
Ensembl hg19 (Hinxton)ENSG00000100365 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000100365 [Gene_View]  ENSG00000100365 [Sequence]  chr22:36860988-36878017 [Contig_View]  NCF4 [Vega]
ICGC DataPortalENSG00000100365
TCGA cBioPortalNCF4
AceView (NCBI)NCF4
Genatlas (Paris)NCF4
WikiGenes4689
SOURCE (Princeton)NCF4
Genetics Home Reference (NIH)NCF4
Genomic and cartography
GoldenPath hg38 (UCSC)NCF4  -     chr22:36860988-36878017 +  22q12.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NCF4  -     22q12.3   [Description]    (hg19-Feb_2009)
GoldenPathNCF4 - 22q12.3 [CytoView hg19]  NCF4 - 22q12.3 [CytoView hg38]
ImmunoBaseENSG00000100365
Mapping of homologs : NCBINCF4 [Mapview hg19]  NCF4 [Mapview hg38]
OMIM601488   613960   
Gene and transcription
Genbank (Entrez)AB025219 AB025220 AK223324 AK290924 BC002798
RefSeq transcript (Entrez)NM_000631 NM_013416
RefSeq genomic (Entrez)NC_000022 NG_023400 NT_187631
Consensus coding sequences : CCDS (NCBI)NCF4
Cluster EST : UnigeneHs.474781 [ NCBI ]
CGAP (NCI)Hs.474781
Alternative Splicing GalleryENSG00000100365
Gene ExpressionNCF4 [ NCBI-GEO ]   NCF4 [ EBI - ARRAY_EXPRESS ]   NCF4 [ SEEK ]   NCF4 [ MEM ]
Gene Expression Viewer (FireBrowse)NCF4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4689
GTEX Portal (Tissue expression)NCF4
Human Protein AtlasENSG00000100365-NCF4 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ15080   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ15080  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ15080
Splice isoforms : SwissVarQ15080
PhosPhoSitePlusQ15080
Domaine pattern : Prosite (Expaxy)PB1 (PS51745)    PX (PS50195)    SH3 (PS50002)   
Domains : Interpro (EBI)p40phox    p40phox_SH3    PB1_dom    PB1_P40    Phox    PX_dom_sf    PX_p40phox    SH3-like_dom_sf    SH3_domain   
Domain families : Pfam (Sanger)PB1 (PF00564)    PX (PF00787)    SH3_1 (PF00018)   
Domain families : Pfam (NCBI)pfam00564    pfam00787    pfam00018   
Domain families : Smart (EMBL)PB1 (SM00666)  PX (SM00312)  SH3 (SM00326)  
Conserved Domain (NCBI)NCF4
DMDM Disease mutations4689
Blocks (Seattle)NCF4
PDB (RSDB)1H6H    1OEY    1W6X    1W70    1Z9Q    2DYB   
PDB Europe1H6H    1OEY    1W6X    1W70    1Z9Q    2DYB   
PDB (PDBSum)1H6H    1OEY    1W6X    1W70    1Z9Q    2DYB   
PDB (IMB)1H6H    1OEY    1W6X    1W70    1Z9Q    2DYB   
Structural Biology KnowledgeBase1H6H    1OEY    1W6X    1W70    1Z9Q    2DYB   
SCOP (Structural Classification of Proteins)1H6H    1OEY    1W6X    1W70    1Z9Q    2DYB   
CATH (Classification of proteins structures)1H6H    1OEY    1W6X    1W70    1Z9Q    2DYB   
SuperfamilyQ15080
Human Protein Atlas [tissue]ENSG00000100365-NCF4 [tissue]
Peptide AtlasQ15080
HPRD03289
IPIIPI00014338   IPI00297156   IPI00877642   IPI00878414   IPI00889605   
Protein Interaction databases
DIP (DOE-UCLA)Q15080
IntAct (EBI)Q15080
FunCoupENSG00000100365
BioGRIDNCF4
STRING (EMBL)NCF4
ZODIACNCF4
Ontologies - Pathways
QuickGOQ15080
Ontology : AmiGOantigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent  protein binding  cytosol  cytosol  superoxide metabolic process  phagocytosis  immune response  endosome membrane  membrane  superoxide-generating NADPH oxidase activator activity  superoxide-generating NADPH oxidase activator activity  phagolysosome  phosphatidylinositol-3-phosphate binding  cellular response to oxidative stress  phosphatidylinositol binding  NADPH oxidase complex  NADPH oxidase complex  positive regulation of catalytic activity  cell redox homeostasis  respiratory burst  protein dimerization activity  vascular endothelial growth factor receptor signaling pathway  oxidation-reduction process  
Ontology : EGO-EBIantigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent  protein binding  cytosol  cytosol  superoxide metabolic process  phagocytosis  immune response  endosome membrane  membrane  superoxide-generating NADPH oxidase activator activity  superoxide-generating NADPH oxidase activator activity  phagolysosome  phosphatidylinositol-3-phosphate binding  cellular response to oxidative stress  phosphatidylinositol binding  NADPH oxidase complex  NADPH oxidase complex  positive regulation of catalytic activity  cell redox homeostasis  respiratory burst  protein dimerization activity  vascular endothelial growth factor receptor signaling pathway  oxidation-reduction process  
Pathways : KEGGPhagosome    Osteoclast differentiation    Leukocyte transendothelial migration    Leishmaniasis   
NDEx NetworkNCF4
Atlas of Cancer Signalling NetworkNCF4
Wikipedia pathwaysNCF4
Orthology - Evolution
OrthoDB4689
GeneTree (enSembl)ENSG00000100365
Phylogenetic Trees/Animal Genes : TreeFamNCF4
HOGENOMQ15080
Homologs : HomoloGeneNCF4
Homology/Alignments : Family Browser (UCSC)NCF4
Gene fusions - Rearrangements
Fusion : MitelmanUBAP2/NCF4 [9p13.3/22q12.3]  [t(9;22)(p13;q12)]  
Fusion PortalUBAP2 9p13.3 NCF4 22q12.3 GBM
Fusion : QuiverNCF4
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNCF4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NCF4
dbVarNCF4
ClinVarNCF4
1000_GenomesNCF4 
Exome Variant ServerNCF4
ExAC (Exome Aggregation Consortium)ENSG00000100365
GNOMAD BrowserENSG00000100365
Varsome BrowserNCF4
Genetic variants : HAPMAP4689
Genomic Variants (DGV)NCF4 [DGVbeta]
DECIPHERNCF4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNCF4 
Mutations
ICGC Data PortalNCF4 
TCGA Data PortalNCF4 
Broad Tumor PortalNCF4
OASIS PortalNCF4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNCF4  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DNCF4
Mutations and Diseases : HGMDNCF4
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)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
BioMutasearch NCF4
DgiDB (Drug Gene Interaction Database)NCF4
DoCM (Curated mutations)NCF4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NCF4 (select a term)
intoGenNCF4
Cancer3DNCF4(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601488    613960   
Orphanet176   
DisGeNETNCF4
MedgenNCF4
Genetic Testing Registry NCF4
NextProtQ15080 [Medical]
TSGene4689
GENETestsNCF4
Target ValidationNCF4
Huge Navigator NCF4 [HugePedia]
snp3D : Map Gene to Disease4689
BioCentury BCIQNCF4
ClinGenNCF4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4689
Chemical/Pharm GKB GenePA31465
Clinical trialNCF4
Miscellaneous
canSAR (ICR)NCF4 (select the gene name)
DataMed IndexNCF4
Probes
Litterature
PubMed78 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNCF4
EVEXNCF4
GoPubMedNCF4
iHOPNCF4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Nov 13 17:57:27 CET 2019
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