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Notch3
Gene Detail
Symbol

Name
ID
Notch3
notch 3
MGI:99460
Synonyms
hpbk, N3
Feature Type
protein coding gene
Genetic Map
Chromosome 17
17.37 cM
Detailed Genetic Map ± 1 cM


Mapping data(10)
Sequence Map
Chr17:32120820-32166880 bp, - strand
From VEGA annotation of GRCm38

  46061 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:376  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 western clawed frog

HCOP human homology predictions: NOTCH3
Protein SuperFamily: notch protein
Gene Tree: Notch3

Human
homologs
NOTCH3, notch 3
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 4854
neXtProt AC: NX_Q9UM47

Human Synonyms: CADASIL, CASIL, IMF2, LMNS

Human Chr (Location): 19p13.2-p13.1; chr19:15159633-15200981 (-)  GRCh38.p2

Disease Associations: (3) Diseases Associated with Human NOTCH3

Mutations,
alleles, and
phenotypes
All mutations/alleles(22) : Chemically induced (ENU)(1) Gene trapped(9) Targeted(11) Transgenic(1)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Some, but not all, null alleles cause defects in artery morphology and in T cell development. Progressive emaciation and kyphosis with paraphimosis occurs in an intron 31 splice donor site point mutant. In conjunction with Notch1 deficiency, abnormalities in embryonic development have been observed.
 
Human Diseases Modeled in Mice Using Notch3 (2)    Mutations Annotated to Human Diseases (6)   
Interactions
Notch3 interacts with 254 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (32 annotations)
Process artery morphogenesis, cell differentiation, ...
Component actin cytoskeleton, cytoplasm, ...
Function calcium ion binding, enzyme binding, ...
External Resources: FuncBase
Expression
Literature Summary: (111 records)
Data Summary: Results (360)    Tissues (247)    Images (71)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 204
Northern blot 8
RT-PCR 148
cDNA source data(46)
Other mouse links: Allen Institute   GENSAT   GEO   Expression Atlas
Other vertebrate links: Xenbase LOC100494244 ; ZFIN notch3    NEW 
Molecular
reagents
All nucleic(59) Genomic(3) cDNA(48) Primer pair(7) Other(1)
Microarray probesets(4)
Other database
links
VEGA Gene Model OTTMUSG00000030086 (Evidence)
Ensembl Gene Model ENSMUSG00000038146 (Evidence)
Entrez Gene 18131 (Evidence)
UniGene 439741
DFCI TC1583064
DoTS DT.486757
NIA Mouse Gene Index U037659
Consensus CDS Project CCDS28614.1
International Mouse Phenotyping Consortium Status Notch3
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000030086 VEGA Gene Model | MGI Sequence Detail 46061 C57BL/6J ±  kb
transcript OTTMUST00000074537 VEGA | MGI Sequence Detail 8044 Not Applicable 
polypeptide OTTMUSP00000038868 VEGA | MGI Sequence Detail 2318 Not Applicable 

For the selected sequences
All sequences(17) RefSeq(2) UniProt(1)
Polymorphisms
RFLP(2) : SNPs within 2kb(316 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR002110 Ankyrin repeat
InterPro IPR020683 Ankyrin repeat-containing domain
InterPro IPR024600 Domain of unknown function DUF3454, notch
InterPro IPR018097 EGF-like calcium-binding, conserved site
InterPro IPR001881 EGF-like calcium-binding domain
InterPro IPR013032 EGF-like, conserved site
InterPro IPR000742 EGF-like domain
InterPro IPR000152 EGF-type aspartate/asparagine hydroxylation site
InterPro IPR009030 Insulin-like growth factor binding protein, N-terminal
InterPro IPR022331 Neurogenic locus Notch 3
InterPro IPR000800 Notch domain
InterPro IPR010660 Notch, NOD domain
InterPro IPR011656 Notch, NODP domain
Protein Ontology PR:000011334 neurogenic locus notch homolog protein 3
References
(Earliest) J:18687 Lardelli M, et al., The novel Notch homologue mouse Notch 3 lacks specific epidermal growth factor-repeats and is expressed in proliferating neuroepithelium. Mech Dev. 1994 May;46(2):123-36
(Latest) J:222308 Fairfield H, et al., Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders. Genome Res. 2015 Jul;25(7):948-57
All references(205)
Disease annotation references (4)
Other
accession IDs
MGD-MRK-16230, MGI:2147057, MGI:4418502

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/25/2015
MGI 6.0
The Jackson Laboratory