Ncf4 MGI Mouse Gene Detail - MGI:109186 - neutrophil cytosolic factor 4

Symbol

Ncf4
Name

neutrophil cytosolic factor 4
Synonyms

p40phox

Feature Type

protein coding gene
IDs

MGI:109186
NCBI Gene: 17972
Alliance

gene page
Transcription Start Sites

19 TSS

Sequence Map

Chr15:78129001-78146780 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 15, 37.10 cM
Mapping Data

4 experiments

SNPs within 2kb

640 from dbSNP Build 142
Strain Annotations

18
RFLP

2

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_109186	protein coding gene	Chr15:78128324-78146782 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0022038	protein coding gene	Chr15:78410217-78427489 (+)
A/J	MGP_AJ_G0021998	protein coding gene	Chr15:75677436-75696374 (+)
AKR/J	MGP_AKRJ_G0021975	protein coding gene	Chr15:77768737-77786028 (+)
BALB/cJ	MGP_BALBcJ_G0022006	protein coding gene	Chr15:75693400-75713418 (+)
C3H/HeJ	MGP_C3HHeJ_G0021777	protein coding gene	Chr15:77831931-77849179 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0022448	protein coding gene	Chr15:81483381-81500587 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0019977	protein coding gene	Chr15:72240594-72257926 (+)
CAST/EiJ	MGP_CASTEiJ_G0021297	protein coding gene	Chr15:78448279-78465478 (+)
CBA/J	MGP_CBAJ_G0021742	protein coding gene	Chr15:83995882-84013154 (+)
DBA/2J	MGP_DBA2J_G0021870	protein coding gene	Chr15:75174109-75191407 (+)
FVB/NJ	MGP_FVBNJ_G0021849	protein coding gene	Chr15:74171309-74188485 (+)
LP/J	MGP_LPJ_G0021939	protein coding gene	Chr15:78577881-78596153 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0021869	protein coding gene	Chr15:89192310-89211228 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0022462	protein coding gene	Chr15:77861464-77878645 (+)
PWK/PhJ	MGP_PWKPhJ_G0021039	protein coding gene	Chr15:75161015-75180161 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0020875	protein coding gene	Chr15:77620787-77638254 (+)
WSB/EiJ	MGP_WSBEiJ_G0021350	protein coding gene	Chr15:78178916-78198072 (+)

Human Ortholog

NCF4, neutrophil cytosolic factor 4

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

NCF4, neutrophil cytosolic factor 4
Synonyms

CGD3, NCF, P40PHOX, SH3PXD4
Links

HGNC:7662

NCBI Gene ID: 4689

neXtProt AC: NX_Q15080

UniProt: Q15080
Chr Location

22q12.3; chr22:36860988-36878017 (+) GRCh38

MGI Vertebrate Homology

Ncf4 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: NCF4
Gene Tree

Ncf4

Diseases

2 with human NCF4 associations

				Human Disease	Mouse Models
				autosomal recessive chronic granulomatous disease 3 IDs autosomal recessive chronic granulomatous disease 3 DOID:0070194 OMIM:613960
				rheumatoid arthritis IDs rheumatoid arthritis DOID:7148 EFO:0000685 ICD10CM:M06.9 ICD9CM:714.0 KEGG:05323 MESH:D001172 NCI:C2884 OMIM:180300 UMLS_CUI:C0003873

Click on a disease name to see all genes associated with that disease.

References

1 with disease annotations

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Phenotype Summary

2 phenotypes from 2 alleles in 2 genetic backgrounds
3 phenotypes from multigenic genotypes
42 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

10
Chemically induced (other)

1
Endonuclease-mediated

2
Radiation induced

2
Targeted

5
Genomic Mutations

3 involving Ncf4
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

23 strains or lines available

Mice homozygous for a null allele are viable but show impaired NADPH oxidase responses of neutrophils to a variety of stimuli and defective killing of S. aureus in vitro and in vivo. Homozygotes for a knock-in allele that prevents PtdIns3P binding to thePX domain fail in development prior to E10.

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All GO Annotations

24
GO References

8

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

715
Tissues

9
cDNA Data

35
Literature Summary

4

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase ncf4

ZFIN ncf4

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All Sequences

54
RefSeq

12
UniProt

4
CCDS

CCDS27610.1

Ensembl

ENSMUSG00000071715 (Evidence)
NCBI Gene

17972

			Length	Strain/Species	Flank
genomic	ENSMUSG00000071715	Ensembl Gene Model \| MGI Sequence Detail	17780	C57BL/6J	± kb
transcript	ENSMUST00000096357	Ensembl \| MGI Sequence Detail	1464	Not Applicable
polypeptide	ENSMUSP00000094084	Ensembl \| MGI Sequence Detail	339	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000011032 neutrophil cytosol factor 4

(term hierarchy)
InterPro Domains

IPR051228 NADPH Oxidase and PX Domain-Containing

IPR034912 Neutrophil cytosol factor 4, PX domain

IPR000919 Neutrophil cytosol factor P40

IPR034853 Neutrophil cytosol factor P40, PB1 domain

IPR035541 Neutrophil cytosol factor P40, SH3 domain

IPR000270 PB1 domain

IPR001683 Phox homology

IPR036871 PX domain superfamily

IPR001452 SH3 domain

IPR036028 SH3-like domain superfamily

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All nucleic 35

cDNA 35

Microarray probesets 3

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MGD-MRK-38230, MGI:2146016

Summaries

All 75

Developmental Gene Expression 4

Diseases 1

Gene Ontology 8

Phenotypes 42
Earliest

J:7688 Lane PW, et al., Association of megacolon with a new dominant spotting gene (Dom) in the mouse. J Hered. 1984 Nov-Dec;75(6):435-9
Latest

J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Ncf4:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr131893	Chr15:78128959-78128978 (+)	-32 bp
Tssr131894	Chr15:78128981-78129037 (+)	8 bp
Tssr131895	Chr15:78129053-78129066 (+)	59 bp
Tssr131896	Chr15:78129148-78129206 (+)	176 bp
Tssr131897	Chr15:78129220-78129251 (+)	235 bp
Tssr131898	Chr15:78130608-78130640 (+)	1,623 bp
Tssr131899	Chr15:78131638-78131656 (+)	2,646 bp
Tssr131900	Chr15:78132131-78132153 (+)	3,141 bp
Tssr131901	Chr15:78132259-78132273 (+)	3,265 bp
Tssr131902	Chr15:78134815-78134829 (+)	5,821 bp
Tssr131903	Chr15:78135088-78135102 (+)	6,094 bp
Tssr131904	Chr15:78137421-78137433 (+)	8,426 bp
Tssr131905	Chr15:78137472-78137503 (+)	8,487 bp
Tssr131906	Chr15:78139064-78139094 (+)	10,078 bp
Tssr131907	Chr15:78144888-78144907 (+)	15,897 bp
Tssr131908	Chr15:78145102-78145127 (+)	16,114 bp
Tssr131909	Chr15:78145469-78145508 (+)	16,488 bp
Tssr131910	Chr15:78145551-78145565 (+)	16,557 bp
Tssr131911	Chr15:78145669-78145698 (+)	16,683 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/12/2024 MGI 6.24