Human Gene NOTCH4 (uc011hdy.2) Description and Page Index
Description: Homo sapiens notch 4 (NOTCH4), mRNA. RefSeq Summary (NM_004557): This gene encodes a member of the Notch family. Members of this Type 1 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 family members play a role in a variety of developmental processes by controlling cell fate decisions. The Notch signaling network is an evolutionarily conserved intercellular signaling pathway which regulates interactions between physically adjacent cells. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signaling pathway that plays a key role in development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remain to be determined. This protein is cleaved in the trans-Golgi network, and presented on the cell surface as a heterodimer. This protein functions as a receptor for membrane bound ligands, and may play a role in vascular, renal and hepatic development. This gene may be associated with susceptibility to schizophrenia in a small portion of cases. An alternative splice variant has been described but its biological nature has not been determined. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC140782.1, U95299.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support ERS025081, ERS025082 [ECO:0000350] ##Evidence-Data-END## Transcript (Including UTRs) Position: chr6_mann_hap4:3,505,441-3,534,689 Size: 29,249 Total Exon Count: 30 Strand: -
Alzheimer's disease Shibata, N. et al. 2007, Genetic association between notch4 polymorphisms and Alzheimer's disease in the Japanese population, J Gerontol A Biol Sci Med Sci 2007 62(4) 350-1.
Arthritis, Rheumatoid Chikashi Terao et al. Human molecular genetics 2011, The human AIRE gene at chromosome 21q22 is a genetic determinant for the predisposition to rheumatoid arthritis in Japanese population., Human molecular genetics.
Asthma Tomomitsu Hirota et al. Nature genetics 2011, Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population., Nature genetics.
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Descriptions from all associated GenBank mRNAs
AJ243937 - Homo sapiens mRNA for G18.1a and G18.1b proteins (G18.1a and G18.1b genes, located in the class III region of the major histocompatibility complex). BC033869 - Homo sapiens Notch homolog 4 (Drosophila), mRNA (cDNA clone IMAGE:5204956), with apparent retained intron. AK131314 - Homo sapiens cDNA FLJ16302 fis, clone PLACE7000502, highly similar to Human Notch4 (hNotch4) mRNA. D63395 - Homo sapiens NOTCH4 mRNA for notch related protein, partial cds. BC140782 - Homo sapiens Notch homolog 4 (Drosophila), mRNA (cDNA clone MGC:176459 IMAGE:9021650), complete cds. BC144540 - Homo sapiens cDNA clone IMAGE:9053067. BC144541 - Homo sapiens cDNA clone IMAGE:9053068. U95299 - Human Notch4 (hNotch4) mRNA, complete cds. AK294161 - Homo sapiens cDNA FLJ57267 complete cds, highly similar to Neurogenic locus notch homolog protein 4 precursor. AK293692 - Homo sapiens cDNA FLJ59128 complete cds, highly similar to Neurogenic locus notch homolog protein 4 precursor. BC063815 - Homo sapiens Notch homolog 4 (Drosophila), mRNA (cDNA clone IMAGE:6180034), complete cds. AK290785 - Homo sapiens cDNA FLJ77085 complete cds, highly similar to Homo sapiens Notch homolog 4 (Drosophila), mRNA.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa04320 - Dorso-ventral axis formation hsa04330 - Notch signaling pathway