Atlas of Genetics and Cytogenetics in Oncology and Haematology

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NCF4 (neutrophil cytosolic factor 4, 40kDa)

Identity

Other namesNCF
P40PHOX
SH3PXD4
HGNC (Hugo) NCF4
LocusID (NCBI) 4689
Location 22q12.3
Location_base_pair Starts at 37257030 and ends at 37274059 bp from pter ( according to hg19-Feb_2009)
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

External links

Nomenclature
HGNC (Hugo)NCF4   7662
Cards
Entrez_Gene (NCBI)NCF4  4689  neutrophil cytosolic factor 4, 40kDa
GeneCards (Weizmann)NCF4
Ensembl hg19 (Hinxton)ENSG00000100365 [Gene_View]  chr22:37257030-37274059 [Contig_View]  NCF4 [Vega]
Ensembl hg38 (Hinxton)ENSG00000100365 [Gene_View]  chr22:37257030-37274059 [Contig_View]  NCF4 [Vega]
ICGC DataPortalENSG00000100365
cBioPortalNCF4
AceView (NCBI)NCF4
Genatlas (Paris)NCF4
WikiGenes4689
SOURCE (Princeton)NCF4
Genomic and cartography
GoldenPath hg19 (UCSC)NCF4  -     chr22:37257030-37274059 +  22q12.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)NCF4  -     22q12.3   [Description]    (hg38-Dec_2013)
EnsemblNCF4 - 22q12.3 [CytoView hg19]  NCF4 - 22q12.3 [CytoView hg38]
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)AC_000154 NC_000022 NC_018933 NG_023400 NT_011520 NT_187631 NW_001838745 NW_004929430
Consensus coding sequences : CCDS (NCBI)NCF4
Cluster EST : UnigeneHs.474781 [ NCBI ]
CGAP (NCI)Hs.474781
Alternative Splicing : Fast-db (Paris)GSHG0019989
Alternative Splicing GalleryENSG00000100365
Gene ExpressionNCF4 [ NCBI-GEO ]     NCF4 [ SEEK ]   NCF4 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ15080 (Uniprot)
NextProtQ15080  [Medical]
With graphics : InterProQ15080
Splice isoforms : SwissVarQ15080 (Swissvar)
Domaine pattern : Prosite (Expaxy)PX (PS50195)    SH3 (PS50002)   
Domains : Interpro (EBI)NCF_P40    OPR_PB1    Phox    SH3_domain   
Related proteins : CluSTrQ15080
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)  
DMDM Disease mutations4689
Blocks (Seattle)Q15080
PDB (SRS)1H6H    1OEY    1W6X    1W70    1Z9Q    2DYB   
PDB (PDBSum)1H6H    1OEY    1W6X    1W70    1Z9Q    2DYB   
PDB (IMB)1H6H    1OEY    1W6X    1W70    1Z9Q    2DYB   
PDB (RSDB)1H6H    1OEY    1W6X    1W70    1Z9Q    2DYB   
Human Protein AtlasENSG00000100365
Peptide AtlasQ15080
HPRD03289
IPIIPI00014338   IPI00297156   IPI00877642   IPI00878414   IPI00889605   
Protein Interaction databases
DIP (DOE-UCLA)Q15080
IntAct (EBI)Q15080
FunCoupENSG00000100365
BioGRIDNCF4
IntegromeDBNCF4
STRING (EMBL)NCF4
Ontologies - Pathways
QuickGOQ15080
Ontology : AmiGOantigen processing and presentation of peptide antigen via MHC class I  antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent  protein binding  cytosol  cytosol  immune response  endosome membrane  membrane  superoxide-generating NADPH oxidase activator activity  phagolysosome  phosphatidylinositol-3-phosphate binding  antigen processing and presentation of exogenous peptide antigen via MHC class I  NADPH oxidase complex  positive regulation of catalytic activity  protein dimerization activity  interaction with host  oxidation-reduction process  phagosome maturation  
Ontology : EGO-EBIantigen processing and presentation of peptide antigen via MHC class I  antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent  protein binding  cytosol  cytosol  immune response  endosome membrane  membrane  superoxide-generating NADPH oxidase activator activity  phagolysosome  phosphatidylinositol-3-phosphate binding  antigen processing and presentation of exogenous peptide antigen via MHC class I  NADPH oxidase complex  positive regulation of catalytic activity  protein dimerization activity  interaction with host  oxidation-reduction process  phagosome maturation  
Pathways : KEGGPhagosome    Osteoclast differentiation    Leukocyte transendothelial migration    Leishmaniasis   
Protein Interaction DatabaseNCF4
DoCM (Curated mutations)NCF4
Wikipedia pathwaysNCF4
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerNCF4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NCF4
dbVarNCF4
ClinVarNCF4
1000_GenomesNCF4 
Exome Variant ServerNCF4
SNP (GeneSNP Utah)NCF4
SNP : HGBaseNCF4
Genetic variants : HAPMAPNCF4
Genomic VariantsNCF4  NCF4 [DGVbeta]
Mutations
ICGC Data PortalENSG00000100365 
Somatic Mutations in Cancer : COSMICNCF4 
CONAN: Copy Number AnalysisNCF4 
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)22:37257030-37274059
Mutations and Diseases : HGMDNCF4
OMIM601488    613960   
MedgenNCF4
NextProtQ15080 [Medical]
GENETestsNCF4
Disease Genetic AssociationNCF4
Huge Navigator NCF4 [HugePedia]  NCF4 [HugeCancerGEM]
snp3D : Map Gene to Disease4689
DGIdb (Drug Gene Interaction db)NCF4
General knowledge
Homologs : HomoloGeneNCF4
Homology/Alignments : Family Browser (UCSC)NCF4
Phylogenetic Trees/Animal Genes : TreeFamNCF4
Chemical/Protein Interactions : CTD4689
Chemical/Pharm GKB GenePA31465
Clinical trialNCF4
Cancer Resource (Charite)ENSG00000100365
Other databases
Probes
Litterature
PubMed74 Pubmed reference(s) in Entrez
CoreMineNCF4
GoPubMedNCF4
iHOPNCF4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sun Dec 21 00:24:52 CET 2014
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