1. Gene
  2. NCF2 - neutrophil cytosolic factor 2 Gene

NCF2 - neutrophil cytosolic factor 2 Gene

中文名称:中性粒细胞胞质因子 2

种属: Homo sapiens

同用名: NCF-2; NOXA2; P67PHOX; P67-PHOX

基因 ID: 4688 | 基因类型: protein coding

关于 NCF2

Cytogenetic location: 1q25.3 Genomic coordinates (GRCh38): 1:183,555,562-183,601,849 (from NCBI)

This gene has 12 transcripts (splice variants), 203 orthologues, 1 paralogue and is associated with 3 phenotypes. Broad expression in bone marrow (RPKM 41.9), appendix (RPKM 36.2) and 15 other tissues.

功能概要

该基因编码嗜中性粒细胞胞质因子 2,它是嗜中性粒细胞中发现的多蛋白 NADPH 氧化酶复合物的 67 千道尔顿胞质亚基。这种氧化酶产生大量的超氧化物,被输送到中性粒细胞吞噬体的内腔。该基因以及其他 NADPH 氧化酶亚基的突变可导致慢性肉芽肿病,这种疾病会导致过氧化氢酶阳性生物体反复感染。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供,2010 年 6 月]

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]

NCF2 基因产物(5)

mRNA Protein Name
NM_000433.4 NP_000424.2 neutrophil cytosol factor 2 isoform 1
NM_001127651.3 NP_001121123.1 neutrophil cytosol factor 2 isoform 1
NM_001190789.2 NP_001177718.1 neutrophil cytosol factor 2 isoform 3
NM_001190794.2 NP_001177723.1 neutrophil cytosol factor 2 isoform 2
NM_001410895.1 NP_001397824.1 neutrophil cytosol factor 2 isoform 4

NCF2 蛋白结构

TPR_11

TPR_11: TPR repeat (41 - 98)

SH3_1

SH3_1: SH3 domain (246 - 291)

PB1

PB1: PB1 domain (352 - 427)

SH3_1

SH3_1: SH3 domain (464 - 507)

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  • 526 a.a.
蛋白主名 其他名称

neutrophil cytosol factor 2

67 kDa neutrophil oxidase factor

重组 NCF2 蛋白

目录号 产品名 蛋白编号 纯度
HY-P74655 p67phox Protein, Human (sf9, His-GST) P19878 (M1-V526) ≥95%
HY-P74656 p67phox Protein, Human (sf9) P19878 (N-G&P, M1-V526) ≥95%

关联疾病

疾病名称 别名
Granulomatous Disease, Chronic, Autosomal Recessive, 2

Chronic Granulomatous Disease Due To Deficiency Of Ncf-2

CGD2

Ncf2 Deficiency

P67-Phox Deficiency

Autosomal Recessive Chronic Granulomatous Disease Cytochrome B-Positive Type Ii

Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type 2

Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Ii

Cgd, Autosomal Recessive Cytochrome B-Positive, Type Ii

Granulomatous Disease, Chronic, Due To Ncf2 Deficiency

Neutrophil Cytosol Factor 2 Deficiency

Chronic Granulomatous Disease 2, Autosomal Recessive

Autosomal Recessive Chronic Granulomatous Disease 2

Cdg2

Deficiency Of Ncf2

Deficiency Of P67-Phox

Chronic Granulomatous Disease Autosomal Recessive Cytochrome B-Positive Type Ii

Deficiency Of Neutrophil Cytosol Factor 2

Avellino Corneal Dystrophy

Chronic Granulomatous Disease

Cgd

Granulomatous Disease, Chronic

Autosomal Recessive Chronic Granulomatous Disease

X-Linked Chronic Granulomatous Disease

Bridges-Good Syndrome

Congenital Dysphagocytosis

Quie Syndrome

Chronic Septic Granulomatosis

Chronic Granulomatous Disorder

Granulomatous Disease Chronic

Granulomatous Disease, Chronic, X-Linked

Phagocyte Bactericidal Dysfunction

Phagocytic Dysfunction

Granulomatous Disease, Chronic, Autosomal Recessive, 1

Chronic Granulomatous Disease Due To Deficiency Of Ncf-1

CGD1

Ncf1 Deficiency

Soluble Oxidase Component Ii Deficiency

Soc2 Deficiency

P47-Phox Deficiency

Autosomal Recessive Chronic Granulomatous Disease Cytochrome B-Positive Type I

Deficiency Of Neutrophil Cytosol Factor 1

Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type 1

Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I

Cgd, Autosomal Recessive Cytochrome B-Positive, Type I

Granulomatous Disease, Chronic, Due To Ncf1 Deficiency

Neutrophil Cytosol Factor 1 Deficiency

Chronic Granulomatous Disease 1, Autosomal Recessive

Autosomal Recessive Chronic Granulomatous Disease 1

Cdg1

Deficiency Of Ncf1

Deficiency Of P47-Phox

Deficiency Of Soc2

Deficiency Of Soluble Oxidase Component Ii

Chronic Granulomatous Disease Autosomal Recessive Cytochrome B-Positive Type I

Chronic Granulomatous Disease Due To Ncf1 Deficiency

Granulomatous Disease, Chronic, X-Linked

CGDX

Chronic Granulomatous Disease, X-Linked

X-Linked Chronic Granulomatous Disease

Cgd

Cytochrome B-Negative Granulomatous Disease, Chronic, X-Linked

Cdgx

X-Linked Chronic Cytochrome B-Negative Granulomatous Disease

Chronic Granulomatous Disease Cytochrome B-Negative X-Linked

Chronic Granulomatous Disease Cytochrome B-Positive X-Linked

Granulomatous Disease, Chronic, X-Linked, Variant

Lung Abscess

Apical Lung Abscess

Abscess Of Lung

Abscess Of Lung Nos

Pulmonary Abscess

Multiple Abscess Of Lung

Suppurative Lymphadenitis

Suppurative Lymphadenopathy

Splenic Abscess
Ectodermal Dysplasia

Congenital Ectodermal Defect

Congenital Ectodermal Dysplasia

Ectodermal Dysplasia Syndrome

Dysplasia, Ectodermal

Gastrointestinal Defects And Immunodeficiency Syndrome 1

Familial Intestinal Polyatresia Syndrome

Fipa

Gastrointestinal Defects And Immunodeficiency Syndrome

Multiple Gastrointestinal Atresias

Familial Isolated Pituitary Adenoma

Intestinal Atresia, Multiple

Multiple Intestinal Atresia

GIDID1

Multiple Intestinal Atresia And/Or Inflammatory Bowel Disease With Or Without Immunodeficiency

Minat

Gidid

Meddra:10028210

Familial Isolated Pituitary Adenoma Syndrome

Intestinal Atresia Multiple

Combined Immunodeficiency-Enteropathy Spectrum

Cid-Mia/Early-Onset Ibd

Intestinal Atresia, Multiple And/Or Inflammatory Bowel Disease With Or Without Immunodeficiency

Mia

Gastrointestinal Defect And Immunodeficiency Syndrome

Pituitary Adenoma Predisposition

Pituitary Adenoma, Familial Isolated

Lung Disease

Lung Diseases

Disorder Of Lung

Abnormality Of The Lung

Malignant Secondary Hypertension
Hypertension, Essential

Essential Hypertension

Hypertension

High Blood Pressure

Hypertension, Essential, Susceptibility To

Hypertensive Disease

Primary Hypertension

EHT

Hypertension, Salt-Sensitive Essential, Susceptibility To

Hyperpiesia

Idiopathic Hypertension

Hypertensive Disorder

Hypertension, Essential, Susceptibility To, 3

Hypertension, Essential 3

Hypertension, Essential, Salt-Sensitive

Hypertension, Essential, Susceptibility To, 6

Hypertension, Essential 6

Hypertension, Salt-Sensitive Essential

Hypertension, Susceptibility To

Hypertension, Essential, Susceptibility To, 4

Hypertension, Essential 4

Hypertension, Essential, Susceptibility To, 2

Hypertension, Essential 2

Hypertension, Essential, Susceptibility To, 1

Hypertension, Essential 1

Hypertension, Essential, Susceptibility To, 5

Hypertension, Essential 5

Htn

Vascular Hypertensive Disorder

Systemic Primary Arterial Hypertension

Hbp - [High Blood Pressure]

Systemic Arterial Hypertensive Disorder

Elevated Blood Pressure

Arterial Hypertension Nos

Hypertension Nos

Benign Hypertension

Systemic Arterial Hypertension

Systemic Hypertension

Artery Htn

Benign Htn

Vascular Htn

Vascular Hypertension

Cholesterol Hypertension

Cholesterol Htn

Idiopathic Htn

Malignant Hypertension

Malignant Htn

Raised Blood Pressure

Cardiovascular Hypertension

Primary Htn - [Hypertension]

High Arterial Tension

High Blood Pressure Disorder

Ht - [Hypertension]

Htn - [Hypertension]

Hypertensive Vascular Disease

Hypertensive Vascular Degeneration

Alzheimer Disease, Familial, 1

Alzheimer Disease

Alzheimer'S Disease

Presenile And Senile Dementia

AD1

Alzheimer Disease, Susceptibility To

Alzheimer Disease, Late-Onset, Susceptibility To

Alzheimer Disease 1, Familial

AD

Familial Alzheimer Disease

Alzheimer Disease, Late-Onset

Alzheimers Dementia

Alzheimer Dementia

Alzheimer Sclerosis

Alzheimer Syndrome

Alzheimer-Type Dementia

Dat

Primary Senile Degenerative Dementia

Sdat

Alzheimer Disease 1

Autosomal Dominant Alzheimer Disease

Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy

Late Onset Alzheimer Disease

Alzheimers Disease

Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy

Late-Onset Alzheimers Disease

Alzheimer'S Disease Pathway Kegg

Dementia Due To Alzheimer'S Disease

Alzheimer Disease Type 1

Alzheimers

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Bos taurus NCF2 VGNC VGNC:31912
Felis catus NCF2 VGNC VGNC:68425
Rattus norvegicus NCF2 RGD RGD:1309424
Macaca mulatta NCF2 VGNC VGNC:75140
Mus musculus NCF2 MGD MGI:97284
Canis familiaris NCF2 VGNC VGNC:43650