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Notch 4

From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
NOTCH4
Identifiers
AliasesNOTCH4, INT3, notch 4, notch receptor 4
External IDsOMIM:164951;MGI:107471;HomoloGene:3351;GeneCards:NOTCH4;OMA:NOTCH4 - orthologs
Gene location (Human)
Chromosome 6 (human)
Chr.Chromosome 6 (human)[1]
Chromosome 6 (human)
Genomic location for NOTCH4
Genomic location for NOTCH4
Band6p21.32Start32,194,843bp[1]
End32,224,067bp[1]
Gene location (Mouse)
Chromosome 17 (mouse)
Chr.Chromosome 17 (mouse)[2]
Chromosome 17 (mouse)
Genomic location for NOTCH4
Genomic location for NOTCH4
Band17 B1|17 18.15 cMStart34,783,242bp[2]
End34,807,477bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • apex of heart

  • right lung

  • subcutaneous adipose tissue

  • upper lobe of left lung

  • lactiferous gland

  • left ventricle

  • right auricle of heart

  • right lobe of thyroid gland

  • left lobe of thyroid gland

  • myometrium
Top expressed in
  • external carotid artery

  • tail of embryo

  • gastrula

  • internal carotid artery

  • right lung

  • right lung lobe

  • left lung

  • lumbar subsegment of spinal cord

  • myocardium of ventricle

  • left lung lobe
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
Orthologs
SpeciesHumanMouse
Entrez

4855

18132

Ensembl
ENSG00000234876
ENSG00000238196
ENSG00000204301
ENSG00000232339
ENSG00000223355

ENSG00000235396
ENSG00000206312

ENSMUSG00000015468

UniProt

Q99466

P31695

RefSeq (mRNA)

NM_004557

NM_010929

RefSeq (protein)

NP_004548

NP_035059

Location (UCSC)Chr 6: 32.19 – 32.22 MbChr 17: 34.78 – 34.81 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Neurogenic locus notch homolog 4(Notch 4) is aprotein that in humans is encoded by theNOTCH4gene located onchromosome 6.[5]

Gene

[edit]

Analternative splice variant of the NOTCH4 gene has been described, but its biological significance has not been determined.[6]

Structure

[edit]

The neurogenic locus notch homolog 4 protein is a member of theNotch family. Members of thistype 1 transmembrane protein family share structural characteristics. These include an extracellular domain consisting of multipleepidermal growth factor-like (EGF)repeats, and an intracellular domain that consists of multiple, but different, domain types.

Function

[edit]

Notch protein family members play a role in a variety of developmental processes by controlling cell fate decisions. TheNotch signaling pathway is an evolutionarily conserved intercellular signaling pathway that regulates interactions between physically adjacent cells

InDrosophila,notch interacts with its cell-bound ligands (delta and serrate), and establishes an intercellular signaling pathway that then plays a key role in development. Homologues of thenotch-ligands have also been identified in humans, but precise interactions between these ligands and the humannotch homologues remain to be determined. Thenotch protein is cleaved in thetrans-Golgi network, and then presented on the cell surface as aheterodimer. The protein functions as a receptor for membrane bound ligands, and may play a role in vascular, renal, and hepatic development.[6]

Clinical significance

[edit]

Mutations in thenotch4 gene may be associated with susceptibility toschizophrenia in a small portion of cases.[7]

References

[edit]
  1. ^abcENSG00000238196, ENSG00000204301, ENSG00000232339, ENSG00000223355, ENSG00000235396, ENSG00000206312 GRCh38: Ensembl release 89: ENSG00000234876, ENSG00000238196, ENSG00000204301, ENSG00000232339, ENSG00000223355, ENSG00000235396, ENSG00000206312Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000015468Ensembl, May 2017
  3. ^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^Sugaya K, Fukagawa T, Matsumoto K, Mita K, Takahashi E, Ando A, Inoko H, Ikemura T (Feb 1995). "Three genes in the human MHC class III region near the junction with the class II: gene for receptor of advanced glycosylation end products, PBX2 homeobox gene and a notch homolog, human counterpart of mouse mammary tumor gene int-3".Genomics.23 (2):408–19.doi:10.1006/geno.1994.1517.PMID 7835890.
  6. ^ab"Entrez Gene: NOTCH4 Notch homolog 4 (Drosophila)".
  7. ^Shayevitz C, Cohen OS, Faraone SV, Glatt SJ (July 2012). "A re-review of the association between the NOTCH4 locus and schizophrenia".Am. J. Med. Genet. B Neuropsychiatr. Genet.159B (5):477–83.doi:10.1002/ajmg.b.32050.PMID 22488909.S2CID 28027007.

Further reading

[edit]
Receptor on signaling cell
Ligand
Jagged
JAG1
JAG2
Receptor on receiving cell
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