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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]
NOTCH4 (Notch Receptor 4) is a Protein Coding gene. Diseases associated with NOTCH4 include Arteriovenous Malformation and Schizoaffective Disorder. Among its related pathways are Neuroscience and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is JAG2.
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 | -- |
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 | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Pre-NOTCH Expression and Processing | ||
2 | Notch Signaling Pathway (WikiPathways) | ||
3 | Diseases of glycosylation | ||
4 | Gene Expression |
.48
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5 | Signaling by NOTCH1 |
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 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
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 |
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 |
SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
691395 | Uncertain Significance: Hirschsprung disease | 32,220,446(-) | C/T | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
707912 | Benign: not provided | 32,214,225(-) | C/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
707913 | Benign: not provided | 32,215,381(-) | C/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
707914 | Benign: not provided | 32,218,115(-) | A/T | INTRON_VARIANT | |
707915 | Benign: not provided | 32,221,132(-) | C/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
arteriovenous malformation |
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schizoaffective disorder |
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schizophrenia |
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breast cancer |
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hemangioma |
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