Notch2 notch 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Notch2provided by MGI
Official Full Name: notch 2provided by MGI
Primary source: MGI:MGI:97364
See related: Ensembl:ENSMUSG00000027878 AllianceGenome:MGI:97364
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: N2
Summary: Enables NF-kappaB binding activity and enzyme binding activity. Involved in several processes, including heart looping; left/right axis specification; and marginal zone B cell differentiation. Acts upstream of or within several processes, including animal organ development; cholangiocyte proliferation; and positive regulation of BMP signaling pathway. Located in cilium and nucleus. Is expressed in several structures, including alimentary system; central nervous system; early conceptus; genitourinary system; and sensory organ. Used to study Hajdu-Cheney syndrome and pre-eclampsia. Human ortholog(s) of this gene implicated in Alagille syndrome and Hajdu-Cheney syndrome. Orthologous to human NOTCH2 (notch receptor 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in spleen adult (RPKM 26.6), ovary adult (RPKM 22.8) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 3 F2.2; 3 42.42 cM

Exon count:: 34

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	3	NC_000069.7 (97920854..98057683)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	3	NC_000069.6 (98013538..98150367)

Chromosome 3 - NC_000069.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Notch2 controls developmental fate choices between germinal center and marginal zone B cells upon immunization.
Title: Notch2 controls developmental fate choices between germinal center and marginal zone B cells upon immunization.
NOTCH2 promotes osteoclast maturation and metabolism and modulates the transcriptome profile during osteoclastogenesis.
Title: NOTCH2 promotes osteoclast maturation and metabolism and modulates the transcriptome profile during osteoclastogenesis.
NOTCH2 sensitizes the chondrocyte to the inflammatory response of tumor necrosis factor alpha.
Title: NOTCH2 sensitizes the chondrocyte to the inflammatory response of tumor necrosis factor α.
Long-term consequences of regulatory T-cell-specific knockout of Notch2 in immune homeostasis.
Title: Long-term consequences of regulatory T-cell-specific knockout of Notch2 in immune homeostasis.
Specific knockout of Notch2 in Treg cells significantly inhibits the growth and proliferation of head and neck squamous cell carcinoma in mice.
Title: Specific knockout of Notch2 in Treg cells significantly inhibits the growth and proliferation of head and neck squamous cell carcinoma in mice.
The OTUD1-Notch2-ICD axis orchestrates allogeneic T cell-mediated graft-versus-host disease.
Title: The OTUD1-Notch2-ICD axis orchestrates allogeneic T cell-mediated graft-versus-host disease.
Expression of expanded GGC repeats within NOTCH2NLC causes behavioral deficits and neurodegeneration in a mouse model of neuronal intranuclear inclusion disease.
Title: Expression of expanded GGC repeats within NOTCH2NLC causes behavioral deficits and neurodegeneration in a mouse model of neuronal intranuclear inclusion disease.
Smooth Muscle Cell Notch2 Is Not Required for Atherosclerotic Plaque Formation in ApoE Null Mice.
Title: Smooth Muscle Cell Notch2 Is Not Required for Atherosclerotic Plaque Formation in ApoE Null Mice.
The endothelial Dll4-muscular Notch2 axis regulates skeletal muscle mass.
Title: The endothelial Dll4-muscular Notch2 axis regulates skeletal muscle mass.
Hairy and enhancer of split 1 is a primary effector of NOTCH2 signaling and induces osteoclast differentiation and function.
Title: Hairy and enhancer of split 1 is a primary effector of NOTCH2 signaling and induces osteoclast differentiation and function.

Submit: New GeneRIF Correction See all GeneRIFs (167)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Gene trapped (3) 1 citation
Targeted (18) 1 citation
Endonuclease-mediated (6) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Notch2 (e-PCR), detects polymorphism
- UniSTS:265730

PMC281641P1 (e-PCR)
- UniSTS:272404

NoName (e-PCR)
- UniSTS:234772

Notch2 (e-PCR), detects polymorphism
- UniSTS:480308

Notch2 (e-PCR), detects polymorphism
- UniSTS:465462

Notch2 (e-PCR), detects polymorphism
- UniSTS:465463

Notch2 (e-PCR), detects polymorphism
- UniSTS:144046

AI853703 (e-PCR)
- UniSTS:178898

Notch2 (e-PCR), detects polymorphism
- UniSTS:528856

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	ISO Inferred from Sequence Orthology more info
enables NF-kappaB binding	IPI Inferred from Physical Interaction more info	PubMed
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables cis-regulatory region sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor activity	IEA Inferred from Electronic Annotation more info
enables transmembrane signaling receptor activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
acts_upstream_of BMP signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in Notch signaling pathway	IC Inferred by Curator more info	PubMed
acts_upstream_of_or_within Notch signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in Notch signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in Notch signaling pathway	TAS Traceable Author Statement more info	PubMed
acts_upstream_of_or_within activation of protein kinase B activity	IDA Inferred from Direct Assay more info	PubMed
involved_in animal organ morphogenesis	TAS Traceable Author Statement more info	PubMed
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in atrial septum morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in bone remodeling	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in cell fate determination	ISO Inferred from Sequence Orthology more info
involved_in cell fate determination	TAS Traceable Author Statement more info	PubMed
acts_upstream_of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to tumor cell	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cholangiocyte proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within ciliary body morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within defense response to bacterium	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within determination of left/right symmetry	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic limb morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in glial cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in glomerular capillary formation	IEP Inferred from Expression Pattern more info	PubMed
involved_in heart looping	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within hepatocyte proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within humoral immune response	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within in utero embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within inflammatory response to antigenic stimulus	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within interleukin-4 production	IGI Inferred from Genetic Interaction more info	PubMed
involved_in intracellular signal transduction	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within intrahepatic bile duct development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in left/right axis specification	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within liver development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within liver morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in marginal zone B cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within morphogenesis of an epithelial sheet	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within multicellular organism development	IEA Inferred from Electronic Annotation more info
involved_in multicellular organism development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within multicellular organism growth	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within myeloid dendritic cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of gene expression	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within placenta blood vessel development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within placenta development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in podocyte development	IEP Inferred from Expression Pattern more info	PubMed
acts_upstream_of_or_within positive regulation of BMP signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of ERK1 and ERK2 cascade	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of Ras protein signal transduction	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of apoptotic process	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within positive regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of keratinocyte proliferation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of miRNA transcription	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of neuroblast proliferation	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of osteoclast differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of smooth muscle cell differentiation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in proximal tubule development	IEP Inferred from Expression Pattern more info	PubMed
involved_in pulmonary valve morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in regulation of developmental process	IEA Inferred from Electronic Annotation more info
involved_in regulation of osteoclast development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in wound healing	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cell surface	ISO Inferred from Sequence Orthology more info
located_in cilium	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular region	TAS Traceable Author Statement more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IC Inferred by Curator more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	TAS Traceable Author Statement more info
part_of receptor complex	ISO Inferred from Sequence Orthology more info	PubMed

General protein information

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Preferred Names: neurogenic locus notch homolog protein 2

Names: Motch B; Notch gene homolog 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_010928.2 → NP_035058.2 neurogenic locus notch homolog protein 2 precursor

See identical proteins and their annotated locations for NP_035058.2

Status: VALIDATED

Source sequence(s)

AC154173, AC164091, D32210

Consensus CDS

CCDS51013.1

UniProtKB/Swiss-Prot

G5E8J0, O35516, Q06008, Q60941

Related

ENSMUSP00000078741.7, ENSMUST00000079812.8

Conserved Domains (10) summary

smart00004
Location:1459 → 1496

NL; Domain found in Notch and Lin-12

COG0666
Location:1880 → 2067

ANKYR; Ankyrin repeat [Signal transduction mechanisms]

cd00054
Location:182 → 218

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

sd00045
Location:1944 → 1975

ANK; ANK repeat [structural motif]

pfam06816
Location:1540 → 1591

NOD; NOTCH protein

pfam07684
Location:1621 → 1675

NODP; NOTCH protein

pfam11936
Location:2385 → 2441

DUF3454; Domain of unknown function (DUF3454)

pfam15685
Location:2070 → 2390

GGN; Gametogenetin

pfam00066
Location:1423 → 1456

Notch; LNR domain

pfam12796
Location:1949 → 2041

Ank_2; Ankyrin repeats (3 copies)