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Genetics Home Reference: your guide to understanding genetic conditions
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NRG1

The information on this page was automatically extracted from online scientific databases.

What is the official name of the NRG1 gene?

The official name of this gene is “neuregulin 1.”

NRG1 is the gene's official symbol. The NRG1 gene is also known by other names, listed below.

What is the normal function of the NRG1 gene?

From NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/3084):

The protein encoded by this gene is a membrane glycoprotein that that mediates cell-cell signaling and plays a critical role in the growth and development of multiple organ systems. An extraordinary variety of different isoforms are produced from this gene through alternative promoter usage and splicing. These isoforms are expressed in a tissue-specific manner and differ significantly in their structure, and are classified as types I, II, III, IV, V and VI. Dysregulation of this gene has been linked to diseases such as cancer, schizophrenia, and bipolar disorder (BPD). [provided by RefSeq, Jun 2014]

From UniProt (http://www.uniprot.org/uniprot/Q02297):

Direct ligand for ERBB3 and ERBB4 tyrosine kinase receptors. Concomitantly recruits ERBB1 and ERBB2 coreceptors, resulting in ligand-stimulated tyrosine phosphorylation and activation of the ERBB receptors. The multiple isoforms perform diverse functions such as inducing growth and differentiation of epithelial, glial, neuronal, and skeletal muscle cells; inducing expression of acetylcholine receptor in synaptic vesicles during the formation of the neuromuscular junction; stimulating lobuloalveolar budding and milk production in the mammary gland and inducing differentiation of mammary tumor cells; stimulating Schwann cell proliferation; implication in the development of the myocardium such as trabeculation of the developing heart. Isoform 10 may play a role in motor and sensory neuron development.

How are changes in the NRG1 gene related to health conditions?

Genetics Home Reference provides information about Hirschsprung disease, which is associated with changes in the NRG1 gene.
UniProt (http://www.uniprot.org/uniprot/Q02297) provides the following information about the NRG1 gene's known or predicted involvement in human disease.

A chromosomal aberration involving NRG1 produces gamma-heregulin. Translocation t(8;11) with TENM4. The translocation fuses the 5'-end of TENM4 to NRG1 (isoform 8). The product of this translocation was first thought to be an alternatively spliced isoform. Gamma-heregulin is a soluble activating ligand for the ERBB2-ERBB3 receptor complex and acts as an autocrine growth factor in a specific breast cancer cell line (MDA-MB-175). Not detected in breast carcinoma samples, including ductal, lobular, medullary, and mucinous histological types, neither in other breast cancer cell lines.

NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/3084) lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the NRG1 gene.
  • Schizophrenia 6[1]
UniProt and NCBI Gene cite these articles in OMIM, a catalog designed for genetics professionals and researchers that provides detailed information about genetic conditions and genes.
 Article
Number
Main Topic
[1]

Where is the NRG1 gene located?

Cytogenetic Location: 8p12

Molecular Location on chromosome 8: base pairs 31,639,303 to 32,765,039

The NRG1 gene is located on the short (p) arm of chromosome 8 at position 12.

The NRG1 gene is located on the short (p) arm of chromosome 8 at position 12.

More precisely, the NRG1 gene is located from base pair 31,639,303 to base pair 32,765,039 on chromosome 8.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about NRG1?

You and your healthcare professional may find the following resources about NRG1 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the NRG1 gene or gene products?

  • ARIA
  • GGF
  • GGF2
  • HGL
  • HRG
  • HRG1
  • HRGA
  • MST131
  • MSTP131
  • NDF
  • NRG1-IT2
  • SMDF

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding NRG1?

acetylcholine ; autocrine ; bipolar disorder ; cancer ; carcinoma ; cell ; cell proliferation ; differentiation ; epithelial ; expressed ; gene ; growth factor ; isoforms ; kinase ; ligand ; Mb ; motor ; muscle cells ; myocardium ; neuromuscular junction ; neuron ; phosphorylation ; proliferation ; promoter ; protein ; receptor ; schizophrenia ; skeletal muscle ; soluble ; splicing ; synaptic vesicles ; tissue ; translocation ; tumor ; tyrosine

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Published: July 21, 2014