NCF2 Gene (Protein Coding)

Neutrophil Cytosolic Factor 2

GC01M183555
GIFtS:
48
This gene encodes neutrophil cytosolic factor 2, the 67-kilodalton cytosolic subunit of the multi-protein NADPH oxidase complex found in neutrophils. This oxidase produces a burst of superoxide which is delivered to the lumen of the neutrophil phagosome. Mutations in this gene, as well as in other NADPH oxidase subunits, can result in chronic granulomatous disease, a disease th... See more...

Aliases for NCF2 Gene

Aliases for NCF2 Gene

  • Neutrophil Cytosolic Factor 2 2 3 5
  • NADPH Oxidase Activator 2 2 3 4
  • NOXA2 2 3 4
  • Neutrophil Cytosolic Factor 2 (65kD, Chronic Granulomatous Disease, Autosomal 2) 2 3
  • Chronic Granulomatous Disease, Autosomal 2 2 3
  • Neutrophil NADPH Oxidase Factor 2 3 4
  • 67 KDa Neutrophil Oxidase Factor 3 4
  • Neutrophil Cytosol Factor 2 3 4
  • P67PHOX 3 4
  • NCF-2 3 4
  • P67-PHOX 3
  • P67-Phox 4
  • P67phox 2
  • NCF2 5

External Ids for NCF2 Gene

Previous GeneCards Identifiers for NCF2 Gene

  • GC01M181050
  • GC01M178953
  • GC01M180044
  • GC01M180764
  • GC01M180256
  • GC01M181791
  • GC01M183524
  • GC01M154762

Summaries for NCF2 Gene

Entrez Gene Summary for NCF2 Gene

  • This gene encodes neutrophil cytosolic factor 2, the 67-kilodalton cytosolic subunit of the multi-protein NADPH oxidase complex found in neutrophils. This oxidase produces a burst of superoxide which is delivered to the lumen of the neutrophil phagosome. Mutations in this gene, as well as in other NADPH oxidase subunits, can result in chronic granulomatous disease, a disease that causes recurrent infections by catalase-positive organisms. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2010]

GeneCards Summary for NCF2 Gene

NCF2 (Neutrophil Cytosolic Factor 2) is a Protein Coding gene. Diseases associated with NCF2 include Granulomatous Disease, Chronic, Autosomal Recessive, 2 and Chronic Granulomatous Disease. Among its related pathways are Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling Pathways and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include protein C-terminus binding and Rac GTPase binding. An important paralog of this gene is NOXA1.

UniProtKB/Swiss-Prot Summary for NCF2 Gene

  • NCF2, NCF1, and a membrane bound cytochrome b558 are required for activation of the latent NADPH oxidase (necessary for superoxide production).

Gene Wiki entry for NCF2 Gene

Additional gene information for NCF2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NCF2 Gene

Genomics for NCF2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for NCF2 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH01J183586 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 302.8 +1.4 1445 4.1 SP1 BCL11A POLR2A SIN3A TRIM22 IRF4 EBF1 SMC3 SMARCA5 CBFB NCF2 LOC100526839 MN296899 ARPC5 APOBEC4 SMG7-AS1 SMG7 NONHSAG003690.2
GH01J183602 Promoter/Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 46.7 -14.2 -14192 4.9 SP1 BCL11A FOXA2 VEZF1 NBN IRF4 TRIM22 ELF1 ZEB2 GABPA NCF2 ARPC5 LAMC1 RGL1 APOBEC4 SMG7 LOC107985235 HSALNG0008978 MN296899
GH01J183630 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 25.8 -43.1 -43087 6.8 TBP SP1 CEBPA NR2C1 MNT IKZF1 SMAD5 IRF2 MBD2 ZNF217 ARPC5 HSALNG0008981 RGL1 lnc-APOBEC4-3 NCF2 DHX9 HMGN1P4 LAMC1 MN308837
GH01J183607 Promoter/Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 32.9 -18.2 -18220 3.1 CTCF CEBPB REST MAX VEZF1 IRF4 TRIM22 EP300 PRDM1 SMC3 LOC107985235 NCF2 ARPC5 HSALNG0008978
GH01J183592 Enhancer 1.1 FANTOM5 ENCODE dbSUPER 43.4 -2.3 -2330 1.9 SP1 BCL11A MCM7 MCM3 IRF4 EBF1 SPI1 BHLHE40 BATF MCM5 NCF2 DHX9 LAMC1 SMG7 APOBEC4 HMGN1P4 ARPC5 SMG7-AS1 MN296899 LOC107985235
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NCF2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NCF2

Top Transcription factor binding sites by QIAGEN in the NCF2 gene promoter:
  • AP-1
  • ATF-2

Genomic Locations for NCF2 Gene

Latest Assembly
chr1:183,555,562-183,590,914
(GRCh38/hg38)
Size:
35,353 bases
Orientation:
Minus strand

Previous Assembly
chr1:183,524,697-183,560,049
(GRCh37/hg19 by Entrez Gene)
Size:
35,353 bases
Orientation:
Minus strand

chr1:183,524,698-183,560,011
(GRCh37/hg19 by Ensembl)
Size:
35,314 bases
Orientation:
Minus strand

Genomic View for NCF2 Gene

Genes around NCF2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NCF2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NCF2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for NCF2 Gene

Proteins for NCF2 Gene

Products:

  1. Antibodies for research
  2. Protein products for research
  3. Assay products for research

  • Protein details for NCF2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P19878-NCF2_HUMAN
    Recommended name:
    Neutrophil cytosol factor 2
    Protein Accession:
    P19878
    Secondary Accessions:
    • B2R6Q1
    • B4DKQ7
    • B4DQA7
    • E9PHJ2
    • E9PHX3
    • Q2PP06
    • Q8NFC7
    • Q9BV51

    Protein attributes for NCF2 Gene

    Size:
    526 amino acids
    Molecular mass:
    59762 Da
    Quaternary structure:
    • Component of an NADPH oxidase complex composed of a heterodimer formed by the membrane proteins CYBA and CYBB and the cytosolic subunits NCF1, NCF2 and NCF4. Interacts with NCF4. Interacts (via the C-terminal SH3 domain) with NCF1 (via C-terminus). Interacts with SYTL1 and RAC1. May interact with NOXO1. Interacts with S100A8 and calprotectin (S100A8/9).

    Three dimensional structures from OCA and Proteopedia for NCF2 Gene

    Alternative splice isoforms for NCF2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NCF2 Gene

Protein Expression for NCF2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for NCF2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NCF2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

No data available for DME Specific Peptides for NCF2 Gene

Domains & Families for NCF2 Gene

Gene Families for NCF2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for NCF2 Gene

InterPro:
Blocks:
  • SH3 domain signature
  • Neutrophil cytosol factor 2 signature
ProtoNet:

Suggested Antigen Peptide Sequences for NCF2 Gene

GenScript: Design optimal peptide antigens:
  • p67-phox (NCF2_HUMAN)
  • Neutrophil cytosol factor 2 (Q0Q616_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P19878

UniProtKB/Swiss-Prot:

NCF2_HUMAN :
  • The OPR/PB1 domain mediates the association with NCF4/p40-PHOX.
  • Belongs to the NCF2/NOXA1 family.
Domain:
  • The OPR/PB1 domain mediates the association with NCF4/p40-PHOX.
Family:
  • Belongs to the NCF2/NOXA1 family.
genes like me logo Genes that share domains with NCF2: view

Function for NCF2 Gene

Products:

  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Molecular function for NCF2 Gene

UniProtKB/Swiss-Prot Function:
NCF2, NCF1, and a membrane bound cytochrome b558 are required for activation of the latent NADPH oxidase (necessary for superoxide production).
GENATLAS Biochemistry:
neutrophil cytosolic factor 2 (component of NADPH oxidase system),p675-phox,oxygen dependent mechanism of phagocytosis

Phenotypes From GWAS Catalog for NCF2 Gene

Gene Ontology (GO) - Molecular Function for NCF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 7938008
GO:0008022 protein C-terminus binding IPI 9365277
GO:0009055 electron transfer activity TAS 1692159
GO:0016175 superoxide-generating NADPH oxidase activity IGI 8280052
GO:0016176 superoxide-generating NADPH oxidase activator activity IBA 21873635
genes like me logo Genes that share ontologies with NCF2: view
genes like me logo Genes that share phenotypes with NCF2: view

Human Phenotype Ontology for NCF2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NCF2 Gene

MGI Knock Outs for NCF2:
  • Ncf2 Ncf2<tm1a(EUCOMM)Wtsi>
  • Ncf2 Ncf2<tm1b(EUCOMM)Wtsi>

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NCF2

Clone products for research

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for NCF2 Gene

Localization for NCF2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NCF2 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NCF2 gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 5
lysosome 4
extracellular 2
cytoskeleton 2
mitochondrion 2
peroxisome 2
endoplasmic reticulum 2
endosome 2
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NCF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001669 acrosomal vesicle IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0016020 membrane IDA 8280052
GO:0032010 phagolysosome TAS --
genes like me logo Genes that share ontologies with NCF2: view

Pathways & Interactions for NCF2 Gene

genes like me logo Genes that share pathways with NCF2: view

Pathways by source for NCF2 Gene

4 GeneGo (Thomson Reuters) pathways for NCF2 Gene
  • G-protein signaling RAC1 in cellular process
  • G-protein signaling_Rac2 regulation pathway
  • Immune response CCR3 signaling in eosinophils
  • Inhibitory action of Lipoxins on Superoxide production in neutrophils
4 Qiagen pathways for NCF2 Gene
  • Antioxidant Action of Vitamin-C
  • Rac1 Pathway
  • Rho Family GTPases
  • Transendothelial Migration of Leukocytes

SIGNOR curated interactions for NCF2 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for NCF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002479 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS --
GO:0006801 superoxide metabolic process TAS 7938008
GO:0006909 phagocytosis IEA --
GO:0006968 cellular defense response TAS 1692159
GO:0022900 electron transport chain IEA --
genes like me logo Genes that share ontologies with NCF2: view

Drugs & Compounds for NCF2 Gene

Products:

  1. Drug products for research

(14) Drugs for NCF2 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dextromethorphan Approved Pharma Target, inhibitor 169
NADPH Experimental Pharma 0

(19) Additional Compounds for NCF2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with NCF2: view

Transcripts for NCF2 Gene

Products:

  1. CRISPR products for research
  2. miRNA products for research
  3. Inhibitory RNAs for research
  4. Clone products for research

mRNA/cDNA for NCF2 Gene

4 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NCF2

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for NCF2 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b
SP1: - - - - -
SP2:
SP3: - -
SP4: - - - -
SP5: - -
SP6: - - -

Relevant External Links for NCF2 Gene

GeneLoc Exon Structure for
NCF2

Expression for NCF2 Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NCF2 Gene

mRNA expression in normal human tissues for NCF2 Gene
mRNA expression by GTEx for NCF2 GenemRNA expression by BioGPS for NCF2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NCF2 Gene

This gene is overexpressed in Whole Blood (x42.1).

Protein differential expression in normal tissues from HIPED for NCF2 Gene

This gene is overexpressed in Lavage (20.0), Peripheral blood mononuclear cells (17.1), and Monocytes (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NCF2 Gene



Protein tissue co-expression partners for NCF2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NCF2

SOURCE GeneReport for Unigene cluster for NCF2 Gene:

Hs.587558

Evidence on tissue expression from TISSUES for NCF2 Gene

  • Blood(5)
  • Nervous system(4.3)
  • Lung(3.1)
  • Heart(2.8)
  • Bone marrow(2.8)
  • Spleen(2.8)
  • Intestine(2.8)
  • Lymph node(2.4)
  • Muscle(2.4)
  • Skin(2.3)
  • Liver(2.2)
  • Kidney(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NCF2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cheek
  • ear
  • eye
  • face
  • head
  • jaw
  • lacrimal apparatus
  • lip
  • mandible
  • maxilla
  • meninges
  • middle ear
  • mouth
  • neck
  • scalp
  • sinus
  • skull
Thorax:
  • bronchus
  • chest wall
  • clavicle
  • esophagus
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • trachea
Abdomen:
  • intestine
  • kidney
  • large intestine
  • liver
  • small intestine
  • spleen
  • stomach
Pelvis:
  • anus
  • pelvis
  • rectum
  • ureter
  • urethra
  • urinary bladder
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • bone marrow
  • lymph node
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with NCF2: view

No data available for mRNA Expression by UniProt/SwissProt for NCF2 Gene

Orthologs for NCF2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NCF2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia NCF2 30 31
  • 99.3 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia NCF2 30 31
  • 88.89 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia NCF2 30 31
  • 88.09 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Ncf2 30 17 31
  • 84.06 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Ncf2 30
  • 78.14 (n)
Oppossum
(Monodelphis domestica)
 Mammalia NCF2 31
  • 77 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia NCF2 31
  • 53 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves NCF2 30 31
  • 69.08 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia -- 31
  • 60 (a)
 OneToMany
-- 31
  • 56 (a)
 OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia ncf2 30
  • 60.25 (n)
Zebrafish
(Danio rerio)
 Actinopterygii ncf2 30 31
  • 54.92 (n)
 OneToOne
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 19 (a)
 OneToMany
Species where no ortholog for NCF2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for NCF2 Gene

ENSEMBL:
Gene Tree for NCF2 (if available)
TreeFam:
Gene Tree for NCF2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NCF2: view image

Paralogs for NCF2 Gene

Paralogs for NCF2 Gene

(1) SIMAP similar genes for NCF2 Gene using alignment to 4 proteins:

  • NCF2_HUMAN
  • B1ALB6_HUMAN
  • B1ALB7_HUMAN
  • Q0Q616_HUMAN
genes like me logo Genes that share paralogs with NCF2: view

Variants for NCF2 Gene

Products:

  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NCF2 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
837163 Uncertain Significance: Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2 183,590,236(-) C/T
NM_000433.4(NCF2):c.94G>A (p.Val32Ile) 		MISSENSE
843519 Uncertain Significance: Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2 183,577,646(-) T/C
NM_000433.4(NCF2):c.319A>G (p.Ile107Val) 		MISSENSE
844354 Uncertain Significance: Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2 183,573,185(-) C/T
NM_000433.4(NCF2):c.609G>A (p.Thr203=) 		SYNONYMOUS_VARIANT,INTRON
847320 Uncertain Significance: Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2 183,590,266(-) A/G
NM_000433.4(NCF2):c.64T>C (p.Trp22Arg) 		MISSENSE
848612 Uncertain Significance: Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2 183,574,575(-) T/C
NM_000433.4(NCF2):c.413A>G (p.Lys138Arg) 		MISSENSE_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for NCF2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for NCF2 Gene

Variant ID Type Subtype PubMed ID
nsv825587 CNV loss 20364138

Variation tolerance for NCF2 Gene

Residual Variation Intolerance Score: 76.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.43; 95.46% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NCF2 Gene

Human Gene Mutation Database (HGMD)
NCF2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NCF2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NCF2 Gene

Disorders for NCF2 Gene

MalaCards: The human disease database

(13) MalaCards diseases for NCF2 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search NCF2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NCF2_HUMAN
  • Granulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive (CGD2) [MIM:233710]: A form of chronic granulomatous disease, a primary immunodeficiency characterized by severe recurrent bacterial and fungal infections, along with manifestations of chronic granulomatous inflammation. It results from an impaired ability of phagocytes to mount a burst of reactive oxygen species in response to pathogens. {ECO:0000269 PubMed:10498624, ECO:0000269 PubMed:10598813, ECO:0000269 PubMed:11112388, ECO:0000269 PubMed:16937026, ECO:0000269 PubMed:18625437, ECO:0000269 PubMed:19624736, ECO:0000269 PubMed:20167518, ECO:0000269 PubMed:23910690, ECO:0000269 PubMed:8286749, ECO:0000269 PubMed:9070911}. Note=The disease is caused by variants affecting the gene represented in this entry.

Genatlas disease for NCF2 Gene

chronic granulomatous disease,autosomal rare form

Additional Disease Information for NCF2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with NCF2: view

Publications for NCF2 Gene

  1. Molecular characterization of autosomal recessive chronic granulomatous disease caused by a defect of the nicotinamide adenine dinucleotide phosphate (reduced form) oxidase component p67-phox. (PMID: 10498624) Patiño PJ … Curnutte JT (Blood 1999) 3 4 23 74
  2. Focus on FOCIS: the continuing diagnostic challenge of autosomal recessive chronic granulomatous disease. (PMID: 18625437) Yu G … Lewis DB (Clinical immunology (Orlando, Fla.) 2008) 3 4 23
  3. Genetic polymorphisms and susceptibility to lung disease. (PMID: 16608528) Lee PL … Wang L (Journal of negative results in biomedicine 2006) 3 23 41
  4. Novel human homologues of p47phox and p67phox participate in activation of superoxide-producing NADPH oxidases. (PMID: 12716910) Takeya R … Sumimoto H (The Journal of biological chemistry 2003) 3 4 23
  5. Expression of a p67(phox) homolog in Caco-2 cells giving O(2)(-)-reconstituting ability to cytochrome b(558) together with recombinant p47(phox). (PMID: 12207919) Yoshida L … Tsunawaki S (Biochemical and biophysical research communications 2002) 3 4 23

ExternalLinks

View latest publications for NCF2 gene in Mastermind

Products for NCF2 Gene

Sources for NCF2 Gene