Aliases for NCF2 Gene
Aliases for NCF2 Gene
External Ids for NCF2 Gene
- HGNC: 7661
- Entrez Gene: 4688
- Ensembl: ENSG00000116701
- OMIM: 608515
- UniProtKB: P19878
Previous GeneCards Identifiers for NCF2 Gene
- GC01M181050
- GC01M178953
- GC01M180044
- GC01M180764
- GC01M180256
- GC01M181791
- GC01M154762
Summaries 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, Cytochrome B-Positive, Type Ii and Chronic Granulomatous Disease. Among its related pathways are Class I MHC mediated antigen processing and presentation and Signaling by Rho GTPases. 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 for NCF2 Gene
-
NCF2, NCF1, and a membrane bound cytochrome b558 are required for activation of the latent NADPH oxidase (necessary for superoxide production).
Additional gene information for NCF2 Gene
- Monarch Initiative
- Search for NCF2 at DataMed
- Search for NCF2 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NCF2 Gene
Genomics for NCF2 Gene
GeneHancer (GH) Regulatory Elements for NCF2 Gene
Promoters and enhancers for NCF2 Gene
- 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 UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the NCF2 gene promoter:
-
- AP-1
- ATF-2
Regulatory Element Products
Genomic Locations for NCF2 Gene
Genomic Locations for NCF2 Gene
- chr1:183,555,562-183,590,921
- (GRCh38/hg38)
- Size:
- 35,360 bases
- Orientation:
- Minus strand
- chr1:183,524,697-183,560,056
- (GRCh37/hg19)
- Size:
- 35,360 bases
- Orientation:
- Minus strand
Genomic View for NCF2 Gene
Genes around NCF2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1q25.3 by Entrez Gene
- 1q25.3 by HGNC
- 1q25.3 by Ensembl
NCF2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for NCF2 Gene
Proteins for NCF2 Gene
-
Protein details for NCF2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P19878-NCF2_HUMAN
- Recommended name:
- Neutrophil cytosol factor 2
- Protein Accession:
- P19878
- 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
Protein Expression for NCF2 Gene
Post-translational modifications for NCF2 Gene
Other Protein References for NCF2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for NCF2 (p67phox)
- Novus Biologicals Antibodies for NCF2
-
Abcam antibodies for NCF2
- Invitrogen Antibodies for NCF2 (AFLGC-NCF2)
- GeneTex NCF2 Antibody for NCF2
-
Boster Bio Antibodies for NCF2
-
Santa Cruz Biotechnology (SCBT) Antibodies for NCF2
- Sino Biological Antibodies for NCF2
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for NCF2
- Origene Custom Protein Services for NCF2
- Sino Biological Recombinant Proteins for NCF2
- Sino Biological Cell Lysates for NCF2
- Search GeneTex for Proteins for NCF2
-
Abcam proteins for NCF2
Assay Products
- antibodies-online: Search results for available NCF2 related products ranked by validation data
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
Suggested Antigen Peptide Sequences for NCF2 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P19878UniProtKB/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.
Function for NCF2 Gene
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 7738010 |
| GO:0008022 | protein C-terminus binding | IPI | 9365277 |
| GO:0009055 | electron transfer activity | TAS | 1692159 |
| GO:0016175 | superoxide-generating NADPH oxidase activity | IEA | -- |
| GO:0016176 | superoxide-generating NADPH oxidase activator activity | IEA | -- |
Phenotypes for NCF2 Gene
- GenomeRNAi human phenotypes for NCF2:
-
- Increased G1 DNA content
- Dynamic nuclei (hole, folded or small irregular)
- Decreased viability of wild-type and TP53 knockout cells, decreased TP53 protein expression ratio (wild-type / TP53 knockout cells)
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Resistant to vaccinia virus (VACV-A4L) infection
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for NCF2
-
CRISPR Products
-
OriGene CRISPR knockouts for NCF2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for NCF2
- genomics-online: gRNA clones - Search results for 119 available NCF2 gene related products
- Overview of 119 available NCF2 gene related products
-
Recommended
- Applied Biological Materials CRISPR for NCF2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for NCF2
- GenScript: Design CRISPR guide RNA sequences for NCF2
miRNA for NCF2 Gene
- miRTarBase miRNAs that target NCF2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for NCF2
- Browse OriGene Inhibitory RNA Products For NCF2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NCF2
- genomics-online: shRNA clones - Search results for 119 available NCF2 gene related products
- Overview of 119 available NCF2 gene related products
-
Recommended
Clone Products
-
OriGene ORF clones in human for NCF2
- RC200704
- RC200704L1
- RC200704L2
- RC200704L3
- RC200704L4
- RC225899
- RC225899L1
- RC225899L2
- RC225899L3
- RC225899L4
- RC231239
- RC231239L1
- RC231239L2
- RC231239L3
- RC231239L4
- RC231265
- RC231265L1
- RC231265L2
- RC231265L3
- RC231265L4
- RC500704
- RG200704
- RG225899
- RG231239
- RG231265
- RC200704L1V
- RC200704L2V
- RC200704L3V
- RC200704L4V
- RC225899L1V
- RC225899L2V
- RC225899L3V
- RC225899L4V
- RC231239L1V
- RC231239L2V
- RC231239L3V
- RC231239L4V
- RC231265L1V
- RC231265L2V
- RC231265L3V
- RC231265L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for NCF2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for NCF2
- genomics-online: cdna clones - Search results for 119 available NCF2 gene related products
- Overview of 119 available NCF2 gene related products
-
Recommended
- orf clones - Search results for 119 available NCF2 gene related products
- Overview of 119 available NCF2 gene related products
-
Recommended
- Applied Biological Materials Clones for NCF2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for NCF2
No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for NCF2 Gene
Localization for NCF2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for NCF2 Gene
- Cytoplasm.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| nucleus | 5 |
| cytosol | 5 |
| lysosome | 4 |
| extracellular | 1 |
| cytoskeleton | 1 |
- Cytosol (4)
- Nucleoli (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001669 | acrosomal vesicle | IEA | -- |
| GO:0005730 | nucleolus | IDA | -- |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005829 | cytosol | TAS | -- |
| GO:0032010 | phagolysosome | TAS | -- |
Pathways & Interactions for NCF2 Gene
Pathways by source for NCF2 Gene
2 BioSystems pathways for NCF2 Gene
15 Reactome pathways for NCF2 Gene
5 KEGG pathways for NCF2 Gene
4 GeneGo (Thomson Reuters) pathways for NCF2 Gene
2 R&D Systems pathways for NCF2 Gene
4 Qiagen pathways for NCF2 Gene
Interacting Proteins for NCF2 Gene
Selected Interacting proteins:
P19878-NCF2_HUMAN
ENSP00000356505
for NCF2 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for NCF2
| 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 | -- |
No data available for SIGNOR curated interactions for NCF2 Gene
Drugs & Compounds for NCF2 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Dextromethorphan | Approved | Pharma | Target, inhibitor | 140 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| nadph |
|
53-57-6 |
Drug Products
Transcripts for NCF2 Gene
mRNA/cDNA for NCF2 Gene
- (7) REFSEQ mRNAs :
- (8) Additional mRNA sequences :
- (100) Selected AceView cDNA sequences:
- (7) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000367536 2203 bps (uc001gqk.5)
- ENST00000367535 2226 bps (uc001gqj.5)
- ENST00000469280 758 bps (uc057nwb.1)
- ENST00000420553 376 bps (uc057nwc.1)
- ENST00000419402 584 bps (uc057nwd.1)
Unigene Clusters for NCF2 Gene
- Neutrophil cytosolic factor 2:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for NCF2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for NCF2
- genomics-online: gRNA clones - Search results for 119 available NCF2 gene related products
- Overview of 119 available NCF2 gene related products
-
Recommended
- Applied Biological Materials CRISPR for NCF2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for NCF2
- GenScript: Design CRISPR guide RNA sequences for NCF2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for NCF2
- Browse OriGene Inhibitory RNA Products For NCF2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NCF2
- genomics-online: shRNA clones - Search results for 119 available NCF2 gene related products
- Overview of 119 available NCF2 gene related products
-
Recommended
Clone Products
-
OriGene ORF clones in human for NCF2
- RC200704
- RC200704L1
- RC200704L2
- RC200704L3
- RC200704L4
- RC225899
- RC225899L1
- RC225899L2
- RC225899L3
- RC225899L4
- RC231239
- RC231239L1
- RC231239L2
- RC231239L3
- RC231239L4
- RC231265
- RC231265L1
- RC231265L2
- RC231265L3
- RC231265L4
- RC500704
- RG200704
- RG225899
- RG231239
- RG231265
- RC200704L1V
- RC200704L2V
- RC200704L3V
- RC200704L4V
- RC225899L1V
- RC225899L2V
- RC225899L3V
- RC225899L4V
- RC231239L1V
- RC231239L2V
- RC231239L3V
- RC231239L4V
- RC231265L1V
- RC231265L2V
- RC231265L3V
- RC231265L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for NCF2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for NCF2
- genomics-online: cdna clones - Search results for 119 available NCF2 gene related products
- Overview of 119 available NCF2 gene related products
-
Recommended
- orf clones - Search results for 119 available NCF2 gene related products
- Overview of 119 available NCF2 gene related products
-
Recommended
- Applied Biological Materials Clones for NCF2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: | - | - | - |
Expression for NCF2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Blood (Hematopoietic System)
- Granulocytes Peripheral Blood
- Monocytes Peripheral Blood
- Plasmacytoid Dendritic cells Peripheral Blood
- Hematopoietic Stem Cells Hematopoietic Bone Marrow
- Hematopoietic Bone Marrow
-
Skeletal Muscle (Muscoskeletal System)
- Myoblasts Mandibular Arch Muscles
- Muscle Progenitor Cells Mandibular Arch Muscles
- Myoblasts Hyoid Arch Muscles
- Muscle Progenitor Cells Hyoid Arch Muscles
-
Kidney (Urinary System)
- Juxtaglomerular Cells Afferent Arteriole
-
Smooth Muscle (Muscoskeletal System)
- Juxtaglomerular Cells Afferent Arteriole
- Bone (Muscoskeletal System)
- Thymus (Hematopoietic System)
mRNA differential expression in normal tissues according to GTEx for NCF2 Gene
This gene is overexpressed in Whole Blood (x42.1).
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
NURSA nuclear receptor signaling pathways regulating expression of NCF2 Gene:
NCF2SOURCE GeneReport for Unigene cluster for NCF2 Gene:
Hs.587558Evidence on tissue expression from TISSUES for NCF2 Gene
- Blood(5)
- Nervous system(4)
- Lung(2.6)
- Heart(2.3)
- Bone marrow(2.2)
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
Primer Products
-
OriGene qPCR primer pairs for NCF2
-
OriGene qPCR primer pairs and template standards for NCF2
- genomics-online: primer clones - Search results for 119 available NCF2 gene related products
- Overview of 119 available NCF2 gene related products
-
Recommended
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | NCF2 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | NCF2 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | NCF2 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Ncf2 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Ncf2 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | NCF2 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | NCF2 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | NCF2 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| tropical clawed frog (Silurana tropicalis) |
Amphibia | ncf2 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | ncf2 34 33 |
|
OneToOne | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToMany |
- Species where no ortholog for NCF2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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 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
Variants for NCF2 Gene
| SNP ID | Clin | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs115365142 | uncertain-significance, Chronic granulomatous disease, not specified | 183,573,231(-) | C/T | coding_sequence_variant, intron_variant, missense_variant | |
| rs119103274 | pathogenic, Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2, Granulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive (CGD2) [MIM:233710] | 183,574,605(-) | G/A | coding_sequence_variant, intron_variant, missense_variant | |
| rs119103275 | pathogenic, Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2, Granulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive (CGD2) [MIM:233710] | 183,586,922(-) | C/T | coding_sequence_variant, missense_variant | |
| rs119103276 | pathogenic, Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2 | 183,577,667(-) | G/A/C/T | coding_sequence_variant, missense_variant, stop_gained | |
| rs13306575 | conflicting-interpretations-of-pathogenicity, likely-benign, Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2, Chronic granulomatous disease | 183,563,302(-) | G/A/C/T | coding_sequence_variant, missense_variant, synonymous_variant |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NCF2 Gene
Disorders for NCF2 Gene
(4) MalaCards diseases for NCF2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type ii |
|
|
| chronic granulomatous disease |
|
|
| phagocyte bactericidal dysfunction |
|
|
| retinitis pigmentosa 47 |
|
|
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 disorder characterized by the inability of neutrophils and phagocytes to kill microbes that they have ingested. Patients suffer from life-threatening bacterial/fungal infections. {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 mutations 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 of Genetics and Cytogenetics in Oncology and Haematology
Publications for NCF2 Gene
- 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 22 58
- 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 22 58
- Structure of the TPR domain of p67phox in complex with Rac.GTP. (PMID: 11090627) Lapouge K … Rittinger K (Molecular cell 2000) 3 4 22 58
- 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 22 58
- Autosomal recessive chronic granulomatous disease caused by novel mutations in NCF-2, the gene encoding the p67-phox component of phagocyte NADPH oxidase. (PMID: 10598813) Noack D … Heyworth PG (Human genetics 1999) 3 4 22 58
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Sources for NCF2 Gene
- (1) GeneCards
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