Human Gene NRG3 (uc010qlz.1)
  Description: Homo sapiens neuregulin 3 (NRG3), transcript variant 2, mRNA.
RefSeq Summary (NM_001165972): This gene is a member of the neuregulin gene family. This gene family encodes ligands for the transmembrane tyrosine kinase receptors ERBB3 and ERBB4 - members of the epidermal growth factor receptor family. Ligand binding activates intracellular signaling cascades and the induction of cellular responses including proliferation, migration, differentiation, and survival or apoptosis. This gene encodes neuregulin 3 (NRG3). NRG3 has been shown to activate the tyrosine phosphorylation of its cognate receptor, ERBB4, and is thought to influence neuroblast proliferation, migration and differentiation by signalling through ERBB4. NRG3 also promotes mammary differentiation during embryogenesis. Linkage studies have implicated this gene as a susceptibility locus for schizophrenia and schizoaffective disorder. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described but their biological validity has not been verified.[provided by RefSeq, Sep 2009].
Transcript (Including UTRs)
   Position: hg19 chr10:83,635,070-84,746,935 Size: 1,111,866 Total Exon Count: 9 Strand: +
Coding Region
   Position: hg19 chr10:83,635,097-84,745,361 Size: 1,110,265 Coding Exon Count: 9 

Page IndexSequence and LinksPrimersGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:83,635,070-84,746,935)mRNA (may differ from genome)Protein (695 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsH-INV
HGNCLynxMalacardsMGIOMIMPubMed
TreefamUniProtKBWikipediaBioGrid CRISPR DB

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): NRG3
CDC HuGE Published Literature: NRG3
Positive Disease Associations: Adiponectin , Alcoholism , Aorta , Asthma , Blood Pressure , Body Weight , Breath Tests , Cholesterol , Cholesterol, HDL , Cholesterol, LDL , Diabetic Nephropathies , Echocardiography , Erythrocyte Count , Erythrocytes , Esophagitis , Glucose , Heart Failure , Heart Rate , Hemoglobin A, Glycosylated , Hemoglobins , Hip , Hypertension , Isoxazoles , Magnesium , Pancreatic Neoplasms , parental expressed emotion | ADHD , Receptors, Tumor Necrosis Factor, Type II , Respiratory Function Tests , response to iloperidone treatment (QT prolongation) , schizophrenia
Related Studies:
  1. Adiponectin
    James B Meigs et al. BMC medical genetics 2007, Genome-wide association with diabetes-related traits in the Framingham Heart Study., BMC medical genetics. [PubMed 17903298]
    Framingham 100K SNP data is a resource for association tests of known and novel genes with diabetes and related traits posted at http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?id=phs000007 webcite. Framingham 100K data replicate the TCF7L2 association with diabetes.
  2. Alcoholism
    , , . [PubMed 0]
  3. Alcoholism
    , , . [PubMed 0]
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: NRG3
Diseases sorted by gene-association score: schizophrenia (4)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 6.53 RPKM in Brain - Frontal Cortex (BA9)
Total median expression: 46.91 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -6.8027-0.252 Picture PostScript Text
3' UTR -437.571574-0.278 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000742 - EG-like_dom
IPR013032 - EGF-like_CS

Pfam Domains:
PF02158 - Neuregulin family

SCOP Domains:
57196 - EGF/Laminin

ModBase Predicted Comparative 3D Structure on B9EGV5
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Cellular Component:
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  BC136811 - Homo sapiens neuregulin 3, mRNA (cDNA clone MGC:168424 IMAGE:9020801), complete cds.
DQ001411 - Homo sapiens neuregulin-3 (NRG3) mRNA, complete cds, alternatively spliced.
HM068873 - Homo sapiens neuregulin 3 variant 1 (NRG3) mRNA, complete cds, alternatively spliced.
HM068874 - Homo sapiens neuregulin 3 variant 3 (NRG3) mRNA, complete cds, alternatively spliced.
AK296563 - Homo sapiens cDNA FLJ54417 complete cds, highly similar to Pro-neuregulin-3, membrane-bound isoform precursor.
DQ338459 - Homo sapiens neuregulin-3-like polypeptide mRNA, complete cds.
DQ857894 - Homo sapiens neuregulin 3 (NRG3) mRNA, complete cds, alternatively spliced.
AK122886 - Homo sapiens cDNA FLJ16534 fis, clone OCBBF2029471, highly similar to Pro-neuregulin-3, membrane-bound isoform precursor.
HM068875 - Homo sapiens neuregulin 3 variant 4 (NRG3) mRNA, complete cds, alternatively spliced.
HM068880 - Homo sapiens neuregulin 3 variant 9 (NRG3) mRNA, complete cds, alternatively spliced.
HM068881 - Homo sapiens neuregulin 3 variant 10 (NRG3) mRNA, complete cds, alternatively spliced.
HM068882 - Homo sapiens neuregulin 3 variant 11 (NRG3) mRNA, complete cds, alternatively spliced.
HM068883 - Homo sapiens neuregulin 3 variant 12 (NRG3) mRNA, complete cds, alternatively spliced.
HM068884 - Homo sapiens neuregulin 3 variant 13 (NRG3) mRNA, complete cds, alternatively spliced.
HM068876 - Homo sapiens neuregulin 3 variant 5 (NRG3) mRNA, complete cds, alternatively spliced.
HM068877 - Homo sapiens neuregulin 3 variant 6 (NRG3) mRNA, complete cds, alternatively spliced.
HM068878 - Homo sapiens neuregulin 3 variant 7 (NRG3) mRNA, complete cds, alternatively spliced.
HM068879 - Homo sapiens neuregulin 3 variant 8 (NRG3) mRNA, complete cds, alternatively spliced.
HM068885 - Homo sapiens neuregulin 3 variant 14 (NRG3) mRNA, complete cds, alternatively spliced.
AK098823 - Homo sapiens cDNA FLJ25957 fis, clone TST05491, highly similar to Mus musculus neuregulin-3 (NRG3) mRNA.
BC143665 - Homo sapiens cDNA clone IMAGE:9052179.
JD231426 - Sequence 212450 from Patent EP1572962.
JD299293 - Sequence 280317 from Patent EP1572962.
JD343385 - Sequence 324409 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04012 - ErbB signaling pathway

BioCarta from NCI Cancer Genome Anatomy Project
h_agrPathway - Agrin in Postsynaptic Differentiation
h_erbB4pathway - g-Secretase mediated ErbB4 Signaling Pathway

-  Other Names for This Gene
  Alternate Gene Symbols: B9EGV5, B9EGV5_HUMAN, NM_001165972, NP_001159444
UCSC ID: uc010qlz.1
RefSeq Accession: NM_001165972
Protein: B9EGV5 CCDS: CCDS31233.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001165972.1
exon count: 9CDS single in 3' UTR: no RNA size: 3689
ORF size: 2088CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3553.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
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.