NOTCH3 Gene (Protein Coding)

Notch Receptor 3

GC19M015159
GIFtS:
49
This gene encodes the third discovered human homologue of the Drosophilia melanogaster type I membrane protein notch. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signalling pathway that plays a key role in neural development. Homologues of the notch-ligands have also been identified in human, but precise interactio... See more...

Aliases for NOTCH3 Gene

Aliases for NOTCH3 Gene

  • Notch Receptor 3 2 3 5
  • Notch 3 2 3 4
  • Neurogenic Locus Notch Homolog Protein 3 3 4
  • CASIL 2 3
  • Notch (Drosophila) Homolog 3 2
  • Notch Homolog 3 (Drosophila) 2
  • Notch Homolog 3 3
  • CADASIL1 3
  • CADASIL 3
  • NOTCH3 5
  • IMF2 3
  • LMNS 3

External Ids for NOTCH3 Gene

Previous HGNC Symbols for NOTCH3 Gene

  • CADASIL

Previous GeneCards Identifiers for NOTCH3 Gene

  • GC19M015649
  • GC19M015115
  • GC19M015131
  • GC19M015270
  • GC19M014839

Summaries for NOTCH3 Gene

Entrez Gene Summary for NOTCH3 Gene

  • This gene encodes the third discovered human homologue of the Drosophilia melanogaster type I membrane protein notch. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signalling pathway that plays a key role in neural development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remains to be determined. Mutations in NOTCH3 have been identified as the underlying cause of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). [provided by RefSeq, Jul 2008]

CIViC Summary for NOTCH3 Gene

GeneCards Summary for NOTCH3 Gene

NOTCH3 (Notch Receptor 3) is a Protein Coding gene. Diseases associated with NOTCH3 include Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 and Lateral Meningocele Syndrome. Among its related pathways are Neuroscience and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include calcium ion binding and enzyme binding. An important paralog of this gene is NOTCH2.

UniProtKB/Swiss-Prot Summary for NOTCH3 Gene

  • Functions as a receptor for membrane-bound ligands Jagged1, Jagged2 and Delta1 to regulate cell-fate determination (PubMed:15350543). Upon ligand activation through the released notch intracellular domain (NICD) it forms a transcriptional activator complex with RBPJ/RBPSUH and activates genes of the enhancer of split locus. Affects the implementation of differentiation, proliferation and apoptotic programs (By similarity).

Gene Wiki entry for NOTCH3 Gene

Additional gene information for NOTCH3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NOTCH3 Gene

Genomics for NOTCH3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for NOTCH3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NOTCH3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NOTCH3

Top Transcription factor binding sites by QIAGEN in the NOTCH3 gene promoter:
  • AP-2alpha
  • AP-2alphaA
  • AP-2beta
  • AP-2gamma
  • C/EBPalpha
  • CHOP-10
  • COMP1
  • GATA-2
  • Pax-3
  • STAT3

Genomic Locations for NOTCH3 Gene

Genomic Locations for NOTCH3 Gene
chr19:15,159,038-15,200,995
(GRCh38/hg38)
Size:
41,958 bases
Orientation:
Minus strand
chr19:15,270,444-15,311,792
(GRCh37/hg19)
Size:
41,349 bases
Orientation:
Minus strand

Genomic View for NOTCH3 Gene

Genes around NOTCH3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NOTCH3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NOTCH3 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for NOTCH3 Gene

Proteins for NOTCH3 Gene

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  • Protein details for NOTCH3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UM47-NOTC3_HUMAN
    Recommended name:
    Neurogenic locus notch homolog protein 3
    Protein Accession:
    Q9UM47
    Secondary Accessions:
    • Q9UEB3
    • Q9UPL3
    • Q9Y6L8

    Protein attributes for NOTCH3 Gene

    Size:
    2321 amino acids
    Molecular mass:
    243631 Da
    Quaternary structure:
    • Heterodimer of a C-terminal fragment N(TM) and a N-terminal fragment N(EC) which are probably linked by disulfide bonds (By similarity). Interacts with MAML1, MAML2 and MAML3 which act as transcriptional coactivators for NOTCH3. Interacts with PSMA1. Interacts with HIF1AN.

    Three dimensional structures from OCA and Proteopedia for NOTCH3 Gene

neXtProt entry for NOTCH3 Gene

Protein Expression for NOTCH3 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for NOTCH3 Gene

  • Synthesized in the endoplasmic reticulum as an inactive form which is proteolytically cleaved by a furin-like convertase in the trans-Golgi network before it reaches the plasma membrane to yield an active, ligand-accessible form. Cleavage results in a C-terminal fragment N(TM) and a N-terminal fragment N(EC). Following ligand binding, it is cleaved by TNF-alpha converting enzyme (TACE) to yield a membrane-associated intermediate fragment called notch extracellular truncation (NEXT). This fragment is then cleaved by presenilin dependent gamma-secretase to release a notch-derived peptide containing the intracellular domain (NICD) from the membrane.
  • Phosphorylated.
  • Hydroxylated by HIF1AN.
  • Glycosylation at Asn1179, Asn1336, and Asn1438
  • Ubiquitination at Lys521, Lys1473, and Lys1684
  • Modification sites at PhosphoSitePlus

Other Protein References for NOTCH3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for NOTCH3

No data available for DME Specific Peptides for NOTCH3 Gene

Domains & Families for NOTCH3 Gene

Gene Families for NOTCH3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for NOTCH3 Gene

InterPro:
Blocks:
  • Ankyrin repeat signature
  • Aspartic acid and asparagine hydroxylation site
  • Laminin-type EGF-like domain
  • EGF-like calcium-binding
  • LIN-12/notch repeat (LNR) signature
ProtoNet:

Suggested Antigen Peptide Sequences for NOTCH3 Gene

GenScript: Design optimal peptide antigens:
  • Notch 3-like protein (B8XFT4_HUMAN)
  • Neurogenic locus notch homolog protein 3 (NOTC3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UM47

UniProtKB/Swiss-Prot:

NOTC3_HUMAN :
  • The EGF-like domains 10 and 11 are required for binding the ligands JAG1 and DLL1.
  • Belongs to the NOTCH family.
Domain:
  • The EGF-like domains 10 and 11 are required for binding the ligands JAG1 and DLL1.
Family:
  • Belongs to the NOTCH family.
genes like me logo Genes that share domains with NOTCH3: view

Function for NOTCH3 Gene

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Molecular function for NOTCH3 Gene

UniProtKB/Swiss-Prot Function:
Functions as a receptor for membrane-bound ligands Jagged1, Jagged2 and Delta1 to regulate cell-fate determination (PubMed:15350543). Upon ligand activation through the released notch intracellular domain (NICD) it forms a transcriptional activator complex with RBPJ/RBPSUH and activates genes of the enhancer of split locus. Affects the implementation of differentiation, proliferation and apoptotic programs (By similarity).
GENATLAS Biochemistry:
Drosophila Notch homolog 3,mediating cell-cell interactions that specify cell fate during development,undergoing a first proteolytic cleavage by furin (PACE1) in the Golgi during trafficking of Notch to the cell surface,undergoing further cleavage by gamma secretase (see PSEN1) releasing an intracellular domain (NICD) which translocates to the nucleus and modulates transcription of target genes,putatively involved in translocation with acute lymphoblastic/myeloblastic leukemia and in the decision between the endocrine and exocrine fates in the developing pancreas

Phenotypes From GWAS Catalog for NOTCH3 Gene

Gene Ontology (GO) - Molecular Function for NOTCH3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IEA,IPI 11006133
GO:0019899 enzyme binding IEA --
GO:0038023 signaling receptor activity IMP 15350543
GO:0042802 identical protein binding IPI 26051713
genes like me logo Genes that share ontologies with NOTCH3: view
genes like me logo Genes that share phenotypes with NOTCH3: view

Human Phenotype Ontology for NOTCH3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NOTCH3 Gene

MGI Knock Outs for NOTCH3:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NOTCH3

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for NOTCH3 Gene

Localization for NOTCH3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NOTCH3 Gene

Cell membrane. Single-pass type I membrane protein.
[Notch 3 intracellular domain]: Nucleus. Note=Following proteolytical processing NICD is translocated to the nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NOTCH3 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 5
nucleus 5
cytosol 5
endoplasmic reticulum 4
golgi apparatus 4
mitochondrion 2
endosome 2
lysosome 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (3)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NOTCH3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005576 extracellular region TAS --
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005789 endoplasmic reticulum membrane TAS --
genes like me logo Genes that share ontologies with NOTCH3: view

Pathways & Interactions for NOTCH3 Gene

genes like me logo Genes that share pathways with NOTCH3: view

Pathways by source for NOTCH3 Gene

4 Qiagen pathways for NOTCH3 Gene
  • Epithelial Adherens Junctions
  • Molecular Mechanisms of Cancer
  • Notch Signaling
  • Presenilin-Mediated Signaling
3 Cell Signaling Technology pathways for NOTCH3 Gene
2 GeneTex pathways for NOTCH3 Gene

SIGNOR curated interactions for NOTCH3 Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for NOTCH3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
GO:0007219 Notch signaling pathway TAS --
GO:0007221 positive regulation of transcription of Notch receptor target TAS --
genes like me logo Genes that share ontologies with NOTCH3: view

Drugs & Compounds for NOTCH3 Gene

Products:

  1. Drug

(11) Drugs for NOTCH3 Gene - From: ApexBio, DGIdb, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
PF-03084014 Pharma other γ-secretase inhibitor, Other 0
FLI-06 Pharma 0
LY3039478 Pharma Notch inhibitor, novel and potent 0
Z-Ile-Leu-aldehyde Pharma 0
MK0752 Pharma inhibitor, other Notch signaling pathway inhibitor, Other 0

(4) ApexBio Compounds for NOTCH3 Gene

Compound Action Cas Number
FLI-06 313967-18-9
LY3039478 Notch inhibitor, novel and potent 1421438-81-4
PF-03084014 γ-secretase inhibitor 865773-15-5
Z-Ile-Leu-aldehyde 161710-10-7
genes like me logo Genes that share compounds with NOTCH3: view

Drug Products

Transcripts for NOTCH3 Gene

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for NOTCH3 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NOTCH3

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NOTCH3 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22 ^ 23a · 23b ^ 24 ^
SP1: -
SP2: - -
SP3:

ExUns: 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32
SP1:
SP2:
SP3:

Relevant External Links for NOTCH3 Gene

GeneLoc Exon Structure for
NOTCH3

Expression for NOTCH3 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NOTCH3 Gene

mRNA expression in normal human tissues for NOTCH3 Gene
mRNA expression by BioGPS for NOTCH3 GenemRNA expression by GTEx for NOTCH3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NOTCH3 Gene

This gene is overexpressed in Artery - Tibial (x7.3) and Artery - Coronary (x4.5).

Protein differential expression in normal tissues from HIPED for NOTCH3 Gene

This gene is overexpressed in Plasma (25.0), Placenta (12.0), Gallbladder (11.9), and Pancreatic juice (10.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NOTCH3 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NOTCH3

SOURCE GeneReport for Unigene cluster for NOTCH3 Gene:

Hs.8546

mRNA Expression by UniProt/SwissProt for NOTCH3 Gene:

Q9UM47-NOTC3_HUMAN
Tissue specificity: Ubiquitously expressed in fetal and adult tissues.

Evidence on tissue expression from TISSUES for NOTCH3 Gene

  • Muscle(3.5)
  • Heart(3.4)
  • Nervous system(3.4)
  • Skin(3.2)
  • Kidney(3)
  • Intestine(2.8)
  • Blood(2.8)
  • Lung(2.7)
  • Lymph node(2.4)
  • Spleen(2.4)
  • Liver(2.3)
  • Eye(2.3)
  • Bone marrow(2.3)
  • Pancreas(2.1)
  • Thyroid gland(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NOTCH3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • inner ear
  • jaw
  • lip
  • mandible
  • maxilla
  • meninges
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • scalp
  • skull
  • tooth
Thorax:
  • chest wall
  • clavicle
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • intestine
Pelvis:
  • pelvis
  • prostate
  • urinary bladder
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with NOTCH3: view

No data available for Protein tissue co-expression partners for NOTCH3 Gene

Orthologs for NOTCH3 Gene

This gene was present in the common ancestor of animals.

Orthologs for NOTCH3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia NOTCH3 30 31
  • 99.35 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia NOTCH3 30 31
  • 88.4 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia NOTCH3 30 31
  • 87.2 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Notch3 30
  • 84.56 (n)
Mouse
(Mus musculus)
 Mammalia Notch3 30 17 31
  • 84.32 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia NOTCH3 31
  • 77 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia NOTCH3 31
  • 73 (a)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia NOTCH3 31
  • 63 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia notch2 30
  • 63.66 (n)
Zebrafish
(Danio rerio)
 Actinopterygii notch3 31
  • 57 (a)
 OneToOne
-- 30
Fruit Fly
(Drosophila melanogaster)
 Insecta N 31
  • 38 (a)
 OneToMany
SP1070 32
  • 38 (a)
CG15388 32
  • 37 (a)
Worm
(Caenorhabditis elegans)
 Secernentea W02C12.1 32
  • 37 (a)
F55H12.3 32
  • 29 (a)
Y69H2.2 32
  • 28 (a)
R05G6.9 32
  • 28 (a)
Y69H2.12 32
  • 27 (a)
Y69H2.11 32
  • 27 (a)
lin-12 32
  • 24 (a)
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 40 (a)
 ManyToMany
Species where no ortholog for NOTCH3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for NOTCH3 Gene

ENSEMBL:
Gene Tree for NOTCH3 (if available)
TreeFam:
Gene Tree for NOTCH3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NOTCH3: view image

Paralogs for NOTCH3 Gene

Paralogs for NOTCH3 Gene

(28) SIMAP similar genes for NOTCH3 Gene using alignment to 5 proteins:

  • NOTC3_HUMAN
  • B8XFT4_HUMAN
  • M0QX38_HUMAN
  • M0QZN3_HUMAN
  • M0R3C9_HUMAN
genes like me logo Genes that share paralogs with NOTCH3: view

Variants for NOTCH3 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NOTCH3 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
661971 Uncertain Significance: not provided 15,189,399(-) C/T MISSENSE_VARIANT
691453 Uncertain Significance: Pyloric stenosis; Esophageal atresia 15,187,291(-) C/A MISSENSE_VARIANT
694718 Pathogenic: Lateral meningocele syndrome 15,161,001(-) C/CG FRAMESHIFT_VARIANT
697842 Benign/Likely Benign: not specified; not provided 15,184,354(-) G/A MISSENSE_VARIANT
697974 Likely Benign: not provided 15,186,898(-) A/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for NOTCH3 Gene

Structural Variations from Database of Genomic Variants (DGV) for NOTCH3 Gene

Variant ID Type Subtype PubMed ID
dgv3439n100 CNV gain 25217958
dgv3440n100 CNV gain 25217958
dgv3441n100 CNV gain 25217958
dgv3442n100 CNV loss 25217958
esv2718225 CNV deletion 23290073
esv34154 CNV loss 18971310
esv997404 CNV loss 20482838
nsv1072330 CNV deletion 25765185
nsv1144866 CNV deletion 24896259
nsv521424 CNV loss 19592680
nsv578717 CNV loss 21841781

Variation tolerance for NOTCH3 Gene

Residual Variation Intolerance Score: 39.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.21; 84.90% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NOTCH3 Gene

Human Gene Mutation Database (HGMD)
NOTCH3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NOTCH3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NOTCH3 Gene

Disorders for NOTCH3 Gene

MalaCards: The human disease database

(49) MalaCards diseases for NOTCH3 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

NOTC3_HUMAN
  • Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]: A cerebrovascular disease characterized by multiple subcortical infarcts, pseudobulbar palsy, dementia, and the presence of granular deposits in small cerebral arteries producing ischemic stroke. {ECO:0000269 PubMed:10227618, ECO:0000269 PubMed:10371548, ECO:0000269 PubMed:10802807, ECO:0000269 PubMed:10854111, ECO:0000269 PubMed:11058919, ECO:0000269 PubMed:11102981, ECO:0000269 PubMed:11559313, ECO:0000269 PubMed:11755616, ECO:0000269 PubMed:11810186, ECO:0000269 PubMed:12136071, ECO:0000269 PubMed:12146805, ECO:0000269 PubMed:12589106, ECO:0000269 PubMed:12810003, ECO:0000269 PubMed:15229130, ECO:0000269 PubMed:15300988, ECO:0000269 PubMed:15350543, ECO:0000269 PubMed:15364702, ECO:0000269 PubMed:15378071, ECO:0000269 PubMed:15818833, ECO:0000269 PubMed:16009764, ECO:0000269 PubMed:24000151, ECO:0000269 PubMed:9388399}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Myofibromatosis, infantile 2 (IMF2) [MIM:615293]: A rare mesenchymal disorder characterized by the development of benign tumors in the skin, striated muscles, bones, and, more rarely, visceral organs. Subcutaneous or soft tissue nodules commonly involve the skin of the head, neck, and trunk. Skeletal and muscular lesions occur in about half of the patients. Lesions may be solitary or multicentric, and they may be present at birth or become apparent in early infancy or occasionally in adult life. Visceral lesions are associated with high morbidity and mortality. {ECO:0000269 PubMed:23731542}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Lateral meningocele syndrome (LMNS) [MIM:130720]: A very rare skeletal disorder with facial anomalies, hypotonia and neurologic dysfunction due to meningocele, a protrusion of the meninges, unaccompanied by neural tissue, through a bony defect in the skull or vertebral column. LMNS facial features include hypertelorism and telecanthus, high arched eyebrows, ptosis, mid-facial hypoplasia, micrognathia, high and narrow palate, low-set ears and a hypotonic appearance. Additional variable features are connective tissue abnormalities, aortic dilation, a high-pitched nasal voice, wormian bones and osteolysis. {ECO:0000269 PubMed:25394726}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for NOTCH3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with NOTCH3: view

No data available for Genatlas for NOTCH3 Gene

Publications for NOTCH3 Gene

  1. Spectrum of mutations in biopsy-proven CADASIL: implications for diagnostic strategies. (PMID: 16009764) Peters N … Dichgans M (Archives of neurology 2005) 3 4 23 41
  2. Population-specific spectrum of NOTCH3 mutations, MRI features and founder effect of CADASIL in Chinese. (PMID: 19242647) Lee YC … Soong BW (Journal of neurology 2009) 3 23 41
  3. CADASIL: extended polymorphisms and mutational analysis of the NOTCH3 gene. (PMID: 19006080) Ungaro C … Quattrone A (Journal of neuroscience research 2009) 3 23 41
  4. Investigation of the NOTCH3 and TNFSF7 genes on C19p13 as candidates for migraine. (PMID: 19018300) Smith RA … Griffiths L (The open neurology journal 2008) 3 23 41
  5. Genetic variants of the NOTCH3 gene in migraine--a mutation analysis and association study. (PMID: 16426270) Schwaag S … Kuhlenbäumer G (Cephalalgia : an international journal of headache 2006) 3 23 41

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