Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3084
Gene name Gene Name - the full gene name approved by the HGNC.
Neuregulin 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NRG1
Synonyms (NCBI Gene) Gene synonyms aliases
ARIA, GGF, GGF2, HGL, HRG, HRG1, HRGA, MST131, MSTP131, NDF, NRG1-IT2, SMDF
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8p12
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a membrane glycoprotein 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 thr
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT022506 hsa-miR-124-3p Microarray 18668037
MIRT736520 hsa-miR-1207-5p qRT-PCR 34288395
MIRT1193909 hsa-miR-409-3p CLIP-seq
MIRT1193910 hsa-miR-1322 CLIP-seq
MIRT1193911 hsa-miR-421 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003222 Process Ventricular trabecula myocardium morphogenesis IDA 17336907
GO:0003712 Function Transcription coregulator activity IDA 15073182
GO:0005102 Function Signaling receptor binding IEA
GO:0005102 Function Signaling receptor binding IPI 7514177
GO:0005125 Function Cytokine activity TAS 10372964
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
142445 7997 ENSG00000157168
Protein
UniProt ID Q02297
Protein name Pro-neuregulin-1, membrane-bound isoform (Pro-NRG1) [Cleaved into: Neuregulin-1 (Acetylcholine receptor-inducing activity) (ARIA) (Breast cancer cell differentiation factor p45) (Glial growth factor) (Heregulin) (HRG) (Neu differentiation factor) (Sensory
Protein function 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
PDB 1HAE , 1HAF , 1HRE , 1HRF , 3U7U , 7MN5 , 7MN6 , 7MN8 , 7SJL , 8U4I , 8U4L
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07679 I-set 37 129 Immunoglobulin I-set domain Domain
PF00008 EGF 182 220 EGF-like domain Domain
PF02158 Neuregulin 267 622 Neuregulin intracellular region Disordered
Tissue specificity TISSUE SPECIFICITY: Type I isoforms are the predominant forms expressed in the endocardium. Isoform alpha is expressed in breast, ovary, testis, prostate, heart, skeletal muscle, lung, placenta liver, kidney, salivary gland, small intestine and brain, but
Sequence
Sequence length 640
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  EGFR tyrosine kinase inhibitor resistance
ErbB signaling pathway
Amyotrophic lateral sclerosis
  Signaling by ERBB2
Signaling by ERBB4
SHC1 events in ERBB2 signaling
PI3K events in ERBB4 signaling
SHC1 events in ERBB4 signaling
PIP3 activates AKT signaling
GRB7 events in ERBB2 signaling
Downregulation of ERBB2:ERBB3 signaling
GRB2 events in ERBB2 signaling
PI3K events in ERBB2 signaling
Constitutive Signaling by Aberrant PI3K in Cancer
RAF/MAP kinase cascade
ERBB2 Regulates Cell Motility
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
ERBB2 Activates PTK6 Signaling
Downregulation of ERBB2 signaling
Signaling by ERBB2 KD Mutants
Signaling by ERBB2 TMD/JMD mutants
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Cleft Lip With Or Without Cleft Palate Cleft lip with or without cleft palate N/A N/A GWAS
Gout Gout N/A N/A GWAS
Hirschsprung Disease Hirschsprung disease N/A N/A GWAS
Hypothyroidism Hypothyroidism N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 26837769, 35322195
Adenocarcinoma Mucinous Associate 26837769, 33839364, 33947695
Adenocarcinoma of Lung Associate 26134228, 26486077, 26845116, 27770508, 29858224, 33839363, 35029906, 36096509
Adenoma Associate 25562676
Alzheimer Disease Associate 22739235, 32337953, 32690068, 37061663
Astrocytoma Associate 15812817
Attention Deficit Disorder with Hyperactivity Associate 30415889
Autism Spectrum Disorder Associate 22952857, 30415889
Behcet Syndrome Associate 23625463
Bipolar Disorder Associate 19127563, 19449332, 20435087, 21232925, 22590542, 24865593, 27063557