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NRG3 neuregulin 3 [ Homo sapiens (human) ]

Gene ID: 10718, updated on 16-Oct-2021

Summary

Official Symbol
NRG3provided by HGNC
Official Full Name
neuregulin 3provided by HGNC
Primary source
HGNC:HGNC:7999
See related
Ensembl:ENSG00000185737 MIM:605533
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HRG3; pro-NRG3
Summary
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]
Expression
Biased expression in brain (RPKM 3.4), gall bladder (RPKM 0.5) and 1 other tissue See more
Orthologs
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Genomic context

See NRG3 in Genome Data Viewer
Location:
10q23.1
Exon count:
21
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (81875190..82989979)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (83634950..84746935)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene replication protein A2 pseudogene 2 Neighboring gene uncharacterized LOC105378390 Neighboring gene uncharacterized LOC107984294 Neighboring gene NRG3 antisense RNA 1 Neighboring gene RNA, U6 small nuclear 441, pseudogene Neighboring gene Sharpr-MPRA regulatory region 14045 Neighboring gene uncharacterized LOC107984187 Neighboring gene RNA, U6 small nuclear 478, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association study of retinopathy in individuals without diabetes.
GeneReviews: Not available
Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits.
GeneReviews: Not available
Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality.
GeneReviews: Not available
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
GeneReviews: Not available
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available
Whole genome association study identifies polymorphisms associated with QT prolongation during iloperidone treatment of schizophrenia.
GeneReviews: Not available

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated 2011-12-21)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated 2011-12-21)

ClinGen Genome Curation PagePubMed

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables chemorepellent activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables growth factor activity NAS
Non-traceable Author Statement
more info
PubMed 
enables receptor tyrosine kinase binding NAS
Non-traceable Author Statement
more info
PubMed 
enables signaling receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables transmembrane receptor protein tyrosine kinase activator activity NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
located_in extracellular region NAS
Non-traceable Author Statement
more info
PubMed 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in glutamatergic synapse IMP
Inferred from Mutant Phenotype
more info
PubMed 
located_in glutamatergic synapse IMP
Inferred from Mutant Phenotype
more info
PubMed 
located_in integral component of plasma membrane NAS
Non-traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
pro-neuregulin-3, membrane-bound isoform
Names
neuregulin-3-like polypeptide

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_013373.1 RefSeqGene

    Range
    4881..1116865
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001010848.4NP_001010848.2  pro-neuregulin-3, membrane-bound isoform isoform 1

    See identical proteins and their annotated locations for NP_001010848.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform 1.
    Source sequence(s)
    AL096706, AL589782, BC136811, DQ001411
    Consensus CDS
    CCDS31233.1
    UniProtKB/Swiss-Prot
    P56975
    UniProtKB/TrEMBL
    B9EGV5
    Related
    ENSP00000361214.2, ENST00000372141.7
    Conserved Domains (2) summary
    PHA02887
    Location:278331
    PHA02887; EGF-like protein; Provisional
    pfam02158
    Location:353486
    Neuregulin; Neuregulin family
  2. NM_001165972.1NP_001159444.1  pro-neuregulin-3, membrane-bound isoform isoform 2

    See identical proteins and their annotated locations for NP_001159444.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in a protein (isoform 2) that is one amino acid shorter, compared to isoform 1.
    Source sequence(s)
    AA704915, AK122886, AL589782, BC136811, DB326565
    UniProtKB/TrEMBL
    B3KVG8, B9EGV5
    Conserved Domains (2) summary
    PHA02887
    Location:278331
    PHA02887; EGF-like protein; Provisional
    pfam02158
    Location:352485
    Neuregulin; Neuregulin family
  3. NM_001165973.2NP_001159445.1  pro-neuregulin-3, membrane-bound isoform isoform 3

    See identical proteins and their annotated locations for NP_001159445.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has multiple differences in the presence and absence of exons in the 5' and 3' ends, compared to variant 1. These differences produce a unique 5' UTR and cause translation initiation at a unique start codon, compared to variant 1. The encoded protein (isoform 3; also known as hFBNRG3) has a shorter and distinct N-terminus and 24 additional aa in its C-terminus, compared to isoform 1. Isoform 3 is exclusively expressed in fetal brain and may undergo N-terminal proteolytic processing following its insertion into the plasma membrane.
    Source sequence(s)
    AA704915, AK122886, AL589782, DB326565, DQ001411, DQ857894
    Consensus CDS
    CCDS53547.1
    UniProtKB/Swiss-Prot
    P56975
    UniProtKB/TrEMBL
    B3KVG8
    Related
    ENSP00000361215.2, ENST00000372142.6
    Conserved Domains (2) summary
    PHA02887
    Location:38110
    PHA02887; EGF-like protein; Provisional
    pfam02158
    Location:132265
    Neuregulin; Neuregulin family
  4. NM_001370081.1NP_001357010.1  pro-neuregulin-3, membrane-bound isoform isoform 4

    Status: REVIEWED

    Source sequence(s)
    AL096706, AL136085, AL354749, AL391478, AL513204, AL589782
    Conserved Domains (2) summary
    PHA02887
    Location:278331
    PHA02887; EGF-like protein; Provisional
    pfam02158
    Location:352486
    Neuregulin; Neuregulin family
  5. NM_001370082.1NP_001357011.1  pro-neuregulin-3, membrane-bound isoform isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC010157, AL096706, AL136085, AL354749, AL391478, AL513204, AL589782
    Related
    ENSP00000451376.1, ENST00000556918.5
    Conserved Domains (2) summary
    PHA02887
    Location:82142
    PHA02887; EGF-like protein; Provisional
    pfam02158
    Location:164297
    Neuregulin; Neuregulin family
  6. NM_001370083.1NP_001357012.1  pro-neuregulin-3, membrane-bound isoform isoform 6

    Status: REVIEWED

    Source sequence(s)
    AL096706, AL391478
  7. NM_001370084.1NP_001357013.1  pro-neuregulin-3, membrane-bound isoform isoform 7

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) encodes the longest isoform (7).
    Source sequence(s)
    AL096706, AL136085, AL354749, AL391478, AL513204, AL589782
    Related
    ENSP00000384796.1, ENST00000404547.5
    Conserved Domains (2) summary
    PHA02887
    Location:278331
    PHA02887; EGF-like protein; Provisional
    pfam02158
    Location:353486
    Neuregulin; Neuregulin family

RNA

  1. NR_163251.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC010157, AL096706, AL136085, AL354749, AL391478, AL513204, AL589782
  2. NR_163252.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL096706, AL136085, AL354749, AL391478, AL513204, AL589782
  3. NR_163253.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL096706, AL096863, AL136085, AL354749, AL391478, AL513204, AL589782
    Related
    ENST00000602794.5

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    81875190..82989979
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017015573.2XP_016871062.1  pro-neuregulin-3, membrane-bound isoform isoform X1

  2. XM_017015577.2XP_016871066.1  pro-neuregulin-3, membrane-bound isoform isoform X5

  3. XM_017015574.2XP_016871063.1  pro-neuregulin-3, membrane-bound isoform isoform X2

  4. XM_017015578.2XP_016871067.1  pro-neuregulin-3, membrane-bound isoform isoform X6

  5. XM_017015575.2XP_016871064.1  pro-neuregulin-3, membrane-bound isoform isoform X3

  6. XM_017015579.2XP_016871068.1  pro-neuregulin-3, membrane-bound isoform isoform X7

  7. XM_017015576.2XP_016871065.1  pro-neuregulin-3, membrane-bound isoform isoform X4

  8. XM_017015580.2XP_016871069.1  pro-neuregulin-3, membrane-bound isoform isoform X9

  9. XM_011539172.3XP_011537474.1  pro-neuregulin-3, membrane-bound isoform isoform X8

    Conserved Domains (2) summary
    PHA02887
    Location:278331
    PHA02887; EGF-like protein; Provisional
    pfam02158
    Location:353487
    Neuregulin; Neuregulin family
  10. XM_011539175.3XP_011537477.1  pro-neuregulin-3, membrane-bound isoform isoform X12

    Conserved Domains (2) summary
    PHA02887
    Location:278331
    PHA02887; EGF-like protein; Provisional
    pfam02158
    Location:353487
    Neuregulin; Neuregulin family
  11. XM_011539173.3XP_011537475.1  pro-neuregulin-3, membrane-bound isoform isoform X11

    Conserved Domains (1) summary
    PHA02887
    Location:278331
    PHA02887; EGF-like protein; Provisional
  12. XM_017015584.2XP_016871073.1  pro-neuregulin-3, membrane-bound isoform isoform X16

  13. XM_017015582.1XP_016871071.1  pro-neuregulin-3, membrane-bound isoform isoform X14

    Conserved Domains (2) summary
    PHA02887
    Location:1171
    PHA02887; EGF-like protein; Provisional
    pfam02158
    Location:93227
    Neuregulin; Neuregulin family
  14. XM_017015583.1XP_016871072.1  pro-neuregulin-3, membrane-bound isoform isoform X15

    Conserved Domains (2) summary
    PHA02887
    Location:1171
    PHA02887; EGF-like protein; Provisional
    pfam02158
    Location:93226
    Neuregulin; Neuregulin family
  15. XM_024447781.1XP_024303549.1  pro-neuregulin-3, membrane-bound isoform isoform X18

    Related
    ENSP00000441201.1, ENST00000545131.5
    Conserved Domains (1) summary
    pfam02158
    Location:3136
    Neuregulin; Neuregulin family
  16. XM_011539178.2XP_011537480.1  pro-neuregulin-3, membrane-bound isoform isoform X17

    Conserved Domains (1) summary
    pfam02158
    Location:10144
    Neuregulin; Neuregulin family

RNA

  1. XR_001747009.2 RNA Sequence

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