Free for academic non-profit institutions. Other users need a Commercial license
This gene encodes a member of the NOTCH family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple different domain types. Notch signaling is an evolutionarily conserved intercellula... See more...
Aliases for NOTCH4 Gene
Aliases for NOTCH4 Gene
External Ids for NOTCH4 Gene
- HGNC: 7884
- NCBI Entrez Gene: 4855
- Ensembl: ENSG00000204301
- OMIM®: 164951
- UniProtKB/Swiss-Prot: Q99466
Previous HGNC Symbols for NOTCH4 Gene
- INT3
Previous GeneCards Identifiers for NOTCH4 Gene
- GC06M032185
- GC06M031933
- GC06M032234
- GC06M032231
- GC06M032270
- GC06M032166
- GC06M032196
- GC06M032203
- GC06M032249
- GC06M032407
- GC06M032649
Summaries for NOTCH4 Gene
-
This gene encodes a member of the NOTCH family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple different domain types. Notch signaling is an evolutionarily conserved intercellular signaling pathway that regulates interactions between physically adjacent cells through binding of Notch family receptors to their cognate ligands. The encoded preproprotein is proteolytically processed in the trans-Golgi network to generate two polypeptide chains that heterodimerize to form the mature cell-surface receptor. This receptor may play a role in vascular, renal and hepatic development. Mutations in this gene may be associated with schizophrenia. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]
GeneCards Summary for NOTCH4 Gene
NOTCH4 (Notch Receptor 4) is a Protein Coding gene. Diseases associated with NOTCH4 include Schizoaffective Disorder and Arteriovenous Malformation. Among its related pathways are Signaling by GPCR and Diseases of glycosylation. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is JAG2.
UniProtKB/Swiss-Prot Summary for NOTCH4 Gene
-
Functions as a receptor for membrane-bound ligands Jagged1, Jagged2 and Delta1 to regulate cell-fate determination. 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. May regulate branching morphogenesis in the developing vascular system (By similarity).
Additional gene information for NOTCH4 Gene
- HGNC (7884)
- NCBI Entrez Gene (4855)
- Ensembl (ENSG00000204301)
- OMIM® (164951)
- UniProtKB/Swiss-Prot (Q99466)
- Open Targets Platform(ENSG00000204301)
- Monarch Initiative
- Search for NOTCH4 at DataMed
- Search for NOTCH4 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NOTCH4 Gene
Genomics for NOTCH4 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for NOTCH4 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 NOTCH4 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NOTCH4
- Top Transcription factor binding sites by QIAGEN in the NOTCH4 gene promoter:
-
- ATF6
- HEN1
- Ik-2
- ITF-2
- MyoD
- NF-kappaB1
- p53
- PPAR-alpha
- Tal-1beta
Genomic Locations for NOTCH4 Gene
Latest Assembly
- chr6:32,194,843-32,224,067
- (GRCh38/hg38)
- Size:
- 29,225 bases
- Orientation:
- Minus strand
Previous Assembly
- chr6:32,162,620-32,191,844
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 29,225 bases
- Orientation:
- Minus strand
- chr6:32,162,620-32,191,844
- (GRCh37/hg19 by Ensembl)
- Size:
- 29,225 bases
- Orientation:
- Minus strand
Genomic View for NOTCH4 Gene
Genes around NOTCH4 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 6p21.32 by HGNC
- 6p21.32 by Entrez Gene
- 6p21.32 by Ensembl
NOTCH4 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for NOTCH4 Gene
Proteins for NOTCH4 Gene
-
Protein details for NOTCH4 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q99466-NOTC4_HUMAN
- Recommended name:
- Neurogenic locus notch homolog protein 4
- Protein Accession:
- Q99466
- B0V183
- B0V1X5
- O00306
- Q5SSY7
- Q99458
- Q99940
- Q9H3S8
- Q9UII9
- Q9UIJ0
Protein attributes for NOTCH4 Gene
- Size:
- 2003 amino acids
- Molecular mass:
- 209622 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 NOTCH4.
- SequenceCaution:
-
- Sequence=BAA09708.1; Type=Frameshift; Evidence={ECO:0000305};
Protein Expression for NOTCH4 Gene
Post-translational modifications for NOTCH4 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 (By similarity).
- Phosphorylated.
-
Glycosylation at Asn664, Asn714, Asn964, and Asn1143
- NX_Q99466 (NX_Q99466-1)
- Modification sites at PhosphoSitePlus
Other Protein References for NOTCH4 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- LifeSpan BioSciences NOTCH4 Antibody and NOTCH4 Monoclonal Antibody
- Novus Biologicals Antibodies for NOTCH4
-
Abcam antibodies for NOTCH4
- Invitrogen Antibodies for NOTCH4 (AFLGC-NOTCH4)
- antibodies-online: Show 23 available NOTCH4 Antibodies ranked by validation data
- Compare Top NOTCH4 Antibodies
-
Recommended
-
Biorbyt antibodies for NOTCH4
-
Custom Antibody ServicesProSci Antibodies for NOTCH4
-
Santa Cruz Biotechnology (SCBT) Antibodies for NOTCH4
Protein products for research
-
OriGene Purified Proteins for NOTCH4
- Search Origene for MassSpec and Protein Over-expression Lysates for NOTCH4
- Origene Custom Protein Services for NOTCH4
- Novus Biologicals lysates for NOTCH4
- Sino Biological Recombinant Proteins for NOTCH4
- Sino Biological Cell Lysates for NOTCH4
Assay products for research
No data available for DME Specific Peptides for NOTCH4 Gene
Domains & Families for NOTCH4 Gene
Gene Families for NOTCH4 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted membrane proteins
Protein Domains for NOTCH4 Gene
- InterPro:
- Blocks:
-
- Ankyrin repeat signature
- Aspartic acid and asparagine hydroxylation site
- EGF-like calcium-binding
- LIN-12/notch repeat (LNR) signature
- ProtoNet:
Suggested Antigen Peptide Sequences for NOTCH4 Gene
- GenScript: Design optimal peptide antigens:
-
- Notch homolog 4 (Drosophila) (B0V183_HUMAN)
- NOTCH4 protein (B2RTR4_HUMAN)
- cDNA FLJ57267, highly similar to Neurogenic locus notch homolog protein 4 (B4DFM3_HUMAN)
- Neurogenic locus notch homolog protein 4 (NOTC4_HUMAN)
- NOTCH4 protein (Q6P3V5_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q99466- Family:
-
- Belongs to the NOTCH family.
Function for NOTCH4 Gene
Molecular function for NOTCH4 Gene
- UniProtKB/Swiss-Prot Function:
- Functions as a receptor for membrane-bound ligands Jagged1, Jagged2 and Delta1 to regulate cell-fate determination. 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. May regulate branching morphogenesis in the developing vascular system (By similarity).
- GENATLAS Biochemistry:
- Drosophila Notch homolog 4,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,homologous to MMTV integration site int-3,containing a (CTG)n repeats polymorphism,with 2 isoforms L and S
Phenotypes From GWAS Catalog for NOTCH4 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005112 | Notch binding | IBA | 21873635 |
| GO:0005509 | calcium ion binding | TAS | 11823422 |
| GO:0005515 | protein binding | IPI | 7671825 |
| GO:0038023 | signaling receptor activity | TAS | 11823422 |
| GO:0046872 | metal ion binding | IEA | -- |
Phenotypes for NOTCH4 Gene
- MGI mutant phenotypes for NOTCH4:
- inferred from 4 alleles
- GenomeRNAi human phenotypes for NOTCH4:
Animal Models for NOTCH4 Gene
Animal Models for research
-
Taconic Biosciences Mouse Models for NOTCH4
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for NOTCH4 - Starting at $85 >
- * NOTCH4 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for NOTCH4
-
Santa Cruz Biotechnology (SCBT) CRISPR for NOTCH4
miRNA for NOTCH4 Gene
- miRTarBase miRNAs that target NOTCH4
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for NOTCH4
- Browse OriGene Inhibitory RNA Products For NOTCH4
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NOTCH4
Clone products for research
- Applied Biological Materials (abm): Clones for NOTCH4 - Starting at $45 >
- * NOTCH4 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for NOTCH4
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for NOTCH4
Cell Lines for research
-
Horizon Cell Lines for NOTCH4
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NOTCH4 Gene
Localization for NOTCH4 Gene
Subcellular locations from UniProtKB/Swiss-Prot for NOTCH4 Gene
- Cell membrane. Single-pass type I membrane protein.
- [Notch 4 intracellular domain]: Nucleus. Note=Following proteolytical processing NICD is translocated to the nucleus.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 5 |
| nucleus | 5 |
| cytosol | 4 |
| golgi apparatus | 4 |
| cytoskeleton | 2 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000139 | Golgi membrane | TAS | -- |
| GO:0005576 | extracellular region | TAS | -- |
| GO:0005634 | nucleus | TAS | 8681805 |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for NOTCH4 Gene
Pathways & Interactions for NOTCH4 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Pre-NOTCH Expression and Processing | ||
| 2 | Notch Signaling Pathway (WikiPathways) | ||
| 3 | Diseases of glycosylation | ||
| 4 | Gene Expression |
.48
|
|
| 5 | Signaling by NOTCH1 | ||
Pathways by source for NOTCH4 Gene
1 Sino Biological pathway for NOTCH4 Gene
5 BioSystems pathways for NOTCH4 Gene
14 Reactome pathways for NOTCH4 Gene
7 KEGG pathways for NOTCH4 Gene
2 R&D Systems pathways for NOTCH4 Gene
4 Qiagen pathways for NOTCH4 Gene
- Epithelial Adherens Junctions
- Molecular Mechanisms of Cancer
- Notch Signaling
- Presenilin-Mediated Signaling
3 Cell Signaling Technology pathways for NOTCH4 Gene
2 GeneTex pathways for NOTCH4 Gene
Interacting Proteins for NOTCH4 Gene
Selected Interacting proteins:
Q99466-NOTC4_HUMAN
ENSP00000364163
for NOTCH4 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for NOTCH4
SIGNOR curated interactions for NOTCH4 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000122 | negative regulation of transcription by RNA polymerase II | IMP | 17984306 |
| GO:0001569 | branching involved in blood vessel morphogenesis | ISS | -- |
| GO:0001709 | cell fate determination | TAS | 11823422 |
| GO:0001763 | morphogenesis of a branching structure | ISS | -- |
| GO:0001837 | epithelial to mesenchymal transition | IMP | 17984306 |
Drugs & Compounds for NOTCH4 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
(4) ApexBio Compounds for NOTCH4 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 |
Transcripts for NOTCH4 Gene
mRNA/cDNA for NOTCH4 Gene
- 1 REFSEQ mRNAs :
- 13 NCBI additional mRNA sequence :
- 5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000375023 6745 nts (view in UCSC)
- ENST00000465528 564 nts (view in UCSC)
- ENST00000473562 3075 nts (view in UCSC)
- ENST00000474612 5267 nts (view in UCSC)
- ENST00000491215 1632 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for NOTCH4 - Starting at $85 >
- * NOTCH4 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for NOTCH4
-
Santa Cruz Biotechnology (SCBT) CRISPR for NOTCH4
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for NOTCH4
- Browse OriGene Inhibitory RNA Products For NOTCH4
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NOTCH4
Clone products for research
- Applied Biological Materials (abm): Clones for NOTCH4 - Starting at $45 >
- * NOTCH4 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for NOTCH4
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for NOTCH4
Relevant External Links for NOTCH4 Gene
- GeneLoc Exon Structure for
- NOTCH4
Expression for NOTCH4 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Lateral Plate Mesoderm (Gastrulation Derivatives)
- Angioblasts Embryonic Capillary Plexus
- Angioblasts Embryonic Blood Islands
- Angioblasts Proepicardium
-
Endothelium (Cardiovascular System)
- Angioblasts Embryonic Capillary Plexus
- Angioblasts Embryonic Blood Islands
- Angioblasts Proepicardium
-
Blood (Hematopoietic System)
- Granulocytes Peripheral Blood
- Conventional Dendritic Cells I Spleen
- Skeletal Muscle (Muscoskeletal System)
-
Placenta (Extraembryonic Tissues)
- Extravillous Cytotrophoblast Cells Extravillous Cytotrophoblast Layer
- Spleen (Hematopoietic System)
mRNA differential expression in normal tissues according to GTEx for NOTCH4 Gene
This gene is overexpressed in Adipose - Visceral (Omentum) (x4.6).
This gene is overexpressed in Adipocyte (69.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for NOTCH4 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NOTCH4
SOURCE GeneReport for Unigene cluster for NOTCH4 Gene:
Hs.436100mRNA Expression by UniProt/SwissProt for NOTCH4 Gene:
Q99466-NOTC4_HUMAN
Tissue specificity:
Highly expressed in the heart, moderately in the lung and placenta and at low levels in the liver, skeletal muscle, kidney, pancreas, spleen, lymph node, thymus, bone marrow and fetal liver. No expression was seen in adult brain or peripheral blood leukocytes.
Evidence on tissue expression from TISSUES for NOTCH4 Gene
- Heart(4.5)
- Bone marrow(4.4)
- Nervous system(3.1)
- Blood(2.9)
- Muscle(2.2)
- Skin(2.1)
- Intestine(2.1)
- Lung(2)
- Eye(2)
Primer products for research
-
OriGene qPCR primer pairs for NOTCH4
Gene Expression Assays for research
No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for NOTCH4 Gene
Orthologs for NOTCH4 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | NOTCH4 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | NOTCH4 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | NOTCH4 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Notch4 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Notch4 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | NOTCH4 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
ManyToMany | |
| Lizard (Anolis carolinensis) |
Reptilia | NOTCH4 31 |
|
OneToOne | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG15388 32 |
|
|
|
| SP1070 32 |
|
|
|||
| N 31 |
|
OneToMany | |||
| Worm (Caenorhabditis elegans) |
Secernentea | W02C12.1 32 |
|
|
|
| Y69H2.12 32 |
|
|
|||
| R05G6.9 32 |
|
|
|||
| F55G1.13 32 |
|
|
|||
| Y69H2.11 32 |
|
|
|||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany | |
| -- 31 |
|
ManyToMany | |||
| -- 31 |
|
ManyToMany | |||
| CSA.3605 31 |
|
ManyToMany | |||
| CSA.131 31 |
|
ManyToMany |
- Species where no ortholog for NOTCH4 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)
- Tropical Clawed Frog (Silurana tropicalis)
- Wheat (Triticum aestivum)
- Zebrafish (Danio rerio)
Evolution for NOTCH4 Gene
- ENSEMBL:
- Gene Tree for NOTCH4 (if available)
- TreeFam:
- Gene Tree for NOTCH4 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for NOTCH4: view image
Paralogs for NOTCH4 Gene
Variants for NOTCH4 Gene
Polymorphic Variants from UniProtKB/Swiss-Prot for NOTCH4 Gene
- NOTC4_HUMAN-Q99466
- The poly-Leu region of NOTCH4 (in the signal peptide) is polymorphic and the number of Leu varies in the population (from 6 to 12).
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NOTCH4 Gene
| SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs118154954 | Benign: not provided | 32,218,115(-) |
A/T NM_004557.4(NOTCH4):c.1511-7T>A |
INTRON | |
| rs11963697 | Likely Benign: not provided | 32,217,008(-) |
C/G NM_004557.4(NOTCH4):c.1798G>C (p.Val600Leu) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
| rs11967083 | Benign: not provided | 32,199,054(-) |
C/T NM_004557.4(NOTCH4):c.4407G>A (p.Gln1469=) |
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS | |
| rs142054879 | Benign: not provided | 32,221,207(-) |
G/A NM_004557.4(NOTCH4):c.570C>T (p.Ala190=) |
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS | |
| rs142586922 | Benign: not provided | 32,197,022(-) |
C/T NM_004557.4(NOTCH4):c.5103G>A (p.Gly1701=) |
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv10404n54 | CNV | loss | 21841781 |
| dgv10463n54 | CNV | loss | 21841781 |
| dgv10472n54 | CNV | loss | 21841781 |
| esv2677748 | CNV | deletion | 23128226 |
| esv2759415 | CNV | gain+loss | 17122850 |
| esv3608578 | CNV | loss | 21293372 |
| nsv1073969 | CNV | deletion | 25765185 |
| nsv10826 | CNV | loss | 18304495 |
| nsv1112900 | CNV | deletion | 24896259 |
| nsv1126749 | CNV | deletion | 24896259 |
| nsv462877 | CNV | loss | 19166990 |
| nsv602104 | CNV | loss | 21841781 |
| nsv602105 | CNV | loss | 21841781 |
| nsv830629 | CNV | loss | 17160897 |
Residual Variation Intolerance Score:
62.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
14.38;
96.35% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for NOTCH4 Gene
SNP Genotyping and Copy Number Assays for research
Disorders for NOTCH4 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| schizoaffective disorder |
|
|
| arteriovenous malformation |
|
|
| schizophrenia |
|
|
| breast cancer |
|
|
| hemangioma |
|
|
Search NOTCH4 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for NOTCH4
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- Tumor Gene Family of Databases
- (TGDB)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for NOTCH4 Gene
Publications for NOTCH4 Gene
- Several loci in the HLA class III region are associated with T1D risk after adjusting for DRB1-DQB1. (PMID: 19143814) Valdes AM … Type 1 Diabetes Genetics Consortium (Diabetes, obesity & metabolism 2009) 3 23 41
- Association evidence of schizophrenia with distal genomic region of NOTCH4 in Taiwanese families. (PMID: 17054719) Liu CM … Hwu HG (Genes, brain, and behavior 2007) 3 23 41
- Genetic association between Notch4 polymorphisms and Alzheimer's disease in the Japanese population. (PMID: 17452726) Shibata N … Arai H (The journals of gerontology. Series A, Biological sciences and medical sciences 2007) 3 23 41
- Association study between the TNXB locus and schizophrenia in a Japanese population. (PMID: 17192952) Tochigi M … Sasaki T (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2007) 3 23 41
- Genetic association between Notch4 polymorphisms and Japanese schizophrenics. (PMID: 16538185) Shibata N … Arai H (Psychiatric genetics 2006) 3 23 41
ExternalLinks
Products for NOTCH4 Gene
- View all 4 R&D Systems NOTCH4 (Notch-4) Products
- View all R&D Systems NOTCH4 (Notch-4) Proteins and Enzymes
- View all 2 R&D Systems NOTCH4 (Notch-4) Primary Antibodies
- View all R&D Systems NOTCH4 (Notch-4) cDNA Clones
- Learn more about R&D Systems custom NOTCH4 antibody, protein, and immunoassay development services
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for NOTCH4
- Search Origene for MassSpec and Protein Over-expression Lysates for NOTCH4
- Origene Custom Protein Services for NOTCH4
- Origene shrna, sirna, and RNAi products in human, mouse, rat for NOTCH4
- Browse OriGene Inhibitory RNA Products For NOTCH4
- OriGene qPCR primer pairs for NOTCH4
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For NOTCH4
- Sino Biological Human cDNA Clone for NOTCH4
- Sino Biological Recombinant Proteins for NOTCH4
- Sino Biological Cell Lysates for NOTCH4
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse Recombinant Proteins
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for NOTCH4
- Novus Biologicals lysates for NOTCH4
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for NOTCH4
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Taconic Biosciences Mouse Models for NOTCH4
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for NOTCH4 (AFLGC-NOTCH4)
- ApexBio compounds for NOTCH4
- VectorBuilder Custom and pre-made DNA vectors for NOTCH4 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for NOTCH4 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for NOTCH4 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for NOTCH4 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for NOTCH4
- antibodies-online: Show 23 available NOTCH4 Antibodies ranked by validation data
- Compare Top NOTCH4 Antibodies
- Recommended
- antibodies-online: Show 11 available NOTCH4 Elisa Kits ranked by validation data
- Compare Top NOTCH4 Elisa Kits
- antibodies-online: Show 11 available NOTCH4 Proteins ranked by validation data
- Compare Top NOTCH4 Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for NOTCH4
- Search Santa Cruz Biotechnology (SCBT) for NOTCH4 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for NOTCH4
- Custom Antibody ServicesProSci Antibodies for NOTCH4
- Search for NOTCH4 Proteins at ProSci
- Horizon Cell Lines for NOTCH4
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for NOTCH4
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for NOTCH4
- Search GeneCopoeia for miRNA 3'UTR Target clone products for NOTCH4
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NOTCH4
- Biorbyt antibodies for NOTCH4
Sources for NOTCH4 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Mar-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) MedlinePlus Genetics
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNAcentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Open Targets Platform
- (175) 5SRRNADB
- (176) snoDB
- (177) MirGeneDB