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: -


Page IndexSequence and LinksGenetic AssociationsCTDMicroarrayOther Species
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

+  Sequence and Links to Tools and Databases
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-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database: NOTCH4
CDC HuGE Published Literature: NOTCH4
Positive Disease Associations: Alzheimer's disease , Arthritis, Rheumatoid , Asthma , Bone Density , Diabetes Mellitus, Type 1 , Diabetic Nephropathies , Eosinophils , Glomerulonephritis, IGA , Heart Rate , HIV-1 control , Lupus Erythematosus, Systemic , Macular Degeneration , Multiple Sclerosis , Psoriasis , schizophrenia , Scleroderma, Systemic , Triglycerides
Related Studies:
  1. 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. [PubMed 17452726]
  2. 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. [PubMed 21505073]
  3. 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. [PubMed 21804548]
           more ... click here to view the complete list

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  Microarray Expression Data
 
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GNF Expression Atlas 2 Data from U133A and GNF1H Chips

      
      
      
     
    
     
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GNF Expression Atlas 1 Human Data on Affy U95 Chips

      
    
     
      
    
    
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-  Orthologous Genes in Other Species
  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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
      
      
      
      
      

-  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

-  Other Names for This Gene
  Alternate Gene Symbols: BC144540
UCSC ID: uc011hdy.2
RefSeq Accession: NM_004557

-  Gene Model Information
 
category: nearCoding nonsense-mediated-decay: yes RNA accession: BC144540.1
exon count: 30CDS single in 3' UTR: no RNA size: 6173
ORF size: 0CDS single in intron: no Alignment % ID: 99.81
txCdsPredict score: 2955.00frame shift in genome: no % Coverage: 99.90
has start codon: yes stop codon in genome: no # of Alignments: 7
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.