Neuregulin 3

Alternative Names

  • NRG3
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OMIM Number

605533

NCBI Gene ID

10718

Uniprot ID

P56975

Length

1,111,986 bases

No. of Exons

21

No. of isoforms

4

Protein Name

Pro-neuregulin-3, membrane-bound isoform

Molecular Mass

77901 Da

Amino Acid Count

720

Genomic Location

chr10:81,875,193-82,987,178

Gene Map Locus
10q23.1

Description

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.[From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001010848.4:c.1829T>GUnited Arab EmiratesNC_000010.11:g.82985343T>GBenignNG_013373.1:g.1115030T>G; NM_001010848.4:c.1829T>G; NP_001010848.2:p.Val610Gly959317
NM_001010848.4:c.1986C>TUnited Arab EmiratesNC_000010.11:g.82985500C>TUncertain SignificanceBenignNG_013373.1:g.1115187C>T; NM_001010848.4:c.1986C>T; NP_001010848.2:p.Ser662=2295933691408
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