Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Gene: NOTCH3 (notch receptor 3) Homo sapiens
Analyze
Symbol: NOTCH3
Name: notch receptor 3
CRRD ID: 732750
Description: Exhibits identical protein binding activity and signaling receptor activity. Predicted to be involved in several processes, including Notch signaling pathway; axon guidance; and positive regulation of transcription by RNA polymerase II. Localizes to several cellular components, including actin cytoskeleton; cytosol; and nucleoplasm. Implicated in CADASIL 1; infantile myofibromatosis; and lateral meningocele syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CADASIL; CADASIL1; CASIL; IMF2; LMNS; neurogenic locus notch homolog protein 3; notch 3; Notch homolog 3
Orthologs:
Mus musculus (house mouse) : Notch3 (notch 3)  MGI  Alliance
Rattus norvegicus (Norway rat) : Notch3 (notch receptor 3)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Notch3 (notch receptor 3)
Pan paniscus (bonobo/pygmy chimpanzee) : NOTCH3 (notch receptor 3)
Canis lupus familiaris (dog) : NOTCH3 (notch receptor 3)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Notch3 (notch receptor 3)
Sus scrofa (pig) : NOTCH3 (notch receptor 3)
Chlorocebus sabaeus (African green monkey) : NOTCH3 (notch receptor 3)
Heterocephalus glaber (naked mole-rat) : Notch3 (notch receptor 3)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1915,159,038 - 15,200,995 (-)EnsemblGRCh38hg38GRCh38
GRCh381915,159,038 - 15,200,995 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371915,270,444 - 15,311,792 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361915,131,444 - 15,172,792 (-)NCBINCBI36hg18NCBI36
Build 341915,131,444 - 15,172,792NCBI
Celera1915,166,185 - 15,207,451 (-)NCBI
Cytogenetic Map19p13.12NCBI
HuRef1914,838,304 - 14,879,920 (-)NCBIHuRef
CHM1_11915,269,920 - 15,311,263 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on NOTCH3
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 732750
Created: 2004-01-12
Species: Homo sapiens
Last Modified: 2020-11-10
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.