Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	10718
Gene name	Neuregulin 3
Gene symbol	NRG3
Synonyms (NCBI Gene)	HRG3pro-NRG3
Chromosome	10
Chromosome location	10q23.1
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 signalin

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SNP ID	Visualize variation	Clinical significance	Consequence
rs138878772	G>A	Benign, likely-pathogenic	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant

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miRTarBase ID	miRNA	Experiments
MIRT1193928	hsa-miR-1267	CLIP-seq
MIRT1193929	hsa-miR-1470	CLIP-seq
MIRT1193930	hsa-miR-188-5p	CLIP-seq
MIRT1193931	hsa-miR-3074-5p	CLIP-seq
MIRT1193932	hsa-miR-3124-3p	CLIP-seq
MIRT1193933	hsa-miR-3140-5p	CLIP-seq
MIRT1193934	hsa-miR-3183	CLIP-seq
MIRT1193935	hsa-miR-330-3p	CLIP-seq
MIRT1193936	hsa-miR-3591-5p	CLIP-seq
MIRT1193937	hsa-miR-3606	CLIP-seq
MIRT1193938	hsa-miR-3653	CLIP-seq
MIRT1193939	hsa-miR-3658	CLIP-seq
MIRT1193940	hsa-miR-4422	CLIP-seq
MIRT1193941	hsa-miR-4462	CLIP-seq
MIRT1193942	hsa-miR-4511	CLIP-seq
MIRT1193943	hsa-miR-4539	CLIP-seq
MIRT1193944	hsa-miR-4637	CLIP-seq
MIRT1193945	hsa-miR-4667-3p	CLIP-seq
MIRT1193946	hsa-miR-4723-3p	CLIP-seq
MIRT1193947	hsa-miR-4724-5p	CLIP-seq
MIRT1193948	hsa-miR-4753-3p	CLIP-seq
MIRT1193949	hsa-miR-548b-3p	CLIP-seq
MIRT1193950	hsa-miR-921	CLIP-seq
MIRT1193928	hsa-miR-1267	CLIP-seq
MIRT1193931	hsa-miR-3074-5p	CLIP-seq
MIRT2056235	hsa-miR-3121-3p	CLIP-seq
MIRT1193932	hsa-miR-3124-3p	CLIP-seq
MIRT1193934	hsa-miR-3183	CLIP-seq
MIRT1193935	hsa-miR-330-3p	CLIP-seq
MIRT2056236	hsa-miR-3671	CLIP-seq
MIRT1193940	hsa-miR-4422	CLIP-seq
MIRT2056237	hsa-miR-4427	CLIP-seq
MIRT2056238	hsa-miR-4643	CLIP-seq
MIRT1193946	hsa-miR-4723-3p	CLIP-seq
MIRT1193948	hsa-miR-4753-3p	CLIP-seq
MIRT1193928	hsa-miR-1267	CLIP-seq
MIRT1193931	hsa-miR-3074-5p	CLIP-seq
MIRT1193932	hsa-miR-3124-3p	CLIP-seq
MIRT1193934	hsa-miR-3183	CLIP-seq
MIRT1193935	hsa-miR-330-3p	CLIP-seq
MIRT1193940	hsa-miR-4422	CLIP-seq
MIRT1193946	hsa-miR-4723-3p	CLIP-seq
MIRT1193948	hsa-miR-4753-3p	CLIP-seq
MIRT2391744	hsa-miR-4433	CLIP-seq
MIRT2391745	hsa-miR-4459	CLIP-seq
MIRT2391746	hsa-miR-4762-5p	CLIP-seq
MIRT2391747	hsa-miR-4768-3p	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0001558	Process	Regulation of cell growth	NAS	9275162
GO:0005102	Function	Signaling receptor binding	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	NAS	9275162
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	12466964
GO:0005615	Component	Extracellular space	IEA
GO:0005615	Component	Extracellular space	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	NAS	9275162
GO:0007389	Process	Pattern specification process	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0007416	Process	Synapse assembly	IEA
GO:0008083	Function	Growth factor activity	IEA
GO:0008083	Function	Growth factor activity	NAS	9275162
GO:0016020	Component	Membrane	IEA
GO:0021842	Process	Chemorepulsion involved in interneuron migration from the subpallium to the cortex	IEA
GO:0030297	Function	Transmembrane receptor protein tyrosine kinase activator activity	NAS	9275162
GO:0030879	Process	Mammary gland development	IEA
GO:0030971	Function	Receptor tyrosine kinase binding	NAS	9275162
GO:0035556	Process	Intracellular signal transduction	IBA
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0038130	Process	ERBB4 signaling pathway	IBA
GO:0038130	Process	ERBB4 signaling pathway	IDA	12466964
GO:0038130	Process	ERBB4 signaling pathway	IEA
GO:0038138	Process	ERBB4-ERBB4 signaling pathway	IEA
GO:0045202	Component	Synapse	IEA
GO:0045499	Function	Chemorepellent activity	IBA
GO:0045499	Function	Chemorepellent activity	IEA
GO:0048018	Function	Receptor ligand activity	IDA	12466964
GO:0048018	Function	Receptor ligand activity	IEA
GO:0048513	Process	Animal organ development	IBA
GO:0050804	Process	Modulation of chemical synaptic transmission	IDA	29114105
GO:0050804	Process	Modulation of chemical synaptic transmission	IMP	29114105
GO:0060596	Process	Mammary placode formation	IEA
GO:0098978	Component	Glutamatergic synapse	IDA	29114105
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0098978	Component	Glutamatergic synapse	IMP	29114105
GO:2001223	Process	Negative regulation of neuron migration	IEA

MIM	HGNC	e!Ensembl
605533	7999	ENSG00000185737

P56975

Protein name

Pro-neuregulin-3, membrane-bound isoform (Pro-NRG3) [Cleaved into: Neuregulin-3 (NRG-3)]

Protein function

Direct ligand for the ERBB4 tyrosine kinase receptor. Binding results in ligand-stimulated tyrosine phosphorylation and activation of the receptor. Does not bind to the EGF receptor, ERBB2 or ERBB3 receptors. May be a survival factor for oligode

Family and domains

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in most regions of the brain with the exception of corpus callosum. Expressed at lower level in testis. Not detected in heart, placenta, lung, liver, skeletal muscle, kidney, pancreas, spleen, thymus, prostate, ovary,

Sequence

MSEGAAAASPPGAASAAAASAEEGTAAAAAAAAAGGGPDGGGEGAAEPPRELRCSDCIVW
NRQQTWLCVVPLFIGFIGLGLSLMLLKWIVVGSVKEYVPTDLVDSKGMGQDPFFLSKPSS
FPKAMETTTTTTSTTSPATPSAGGAASSRTPNRISTRLTTITRAPTRFPGHRVPIRASPR
STTARNTAAPATVPSTTAPFFSSSTLGSRPPVPGTPSTQAMPSWPTAAYATSSYLHDSTP
SWTLSPFQDAASSSSSSSSSATTTTPETSTSPKFHTTTYSTERSEHFKPCRDKDLAYCLN
DGECFVIETLTGSHKHCRCKEGYQGVRCDQFLPKTDSILSDPTDHLGIEFMESEEVYQRQ
VLSISCIIFGIVIVGMFCAAFYFKSKKQAKQIQEQLKVPQNGKSYSLKASSTMAKSENLV
KSHVQLQNYSKVERHPVTALEKMMESSFVGPQSFPEVPSPDRGSQSVKHHRSLSSCCSPG
QRSGMLHRNAFRRTPPSPRSRLGGIVGPAYQQLEESRIPDQDTIPCQGIEVRKTISHLPI
QLWCVERPLDLKYSSSGLKTQRNTSINMQLPSRETNPYFNSLEQKDLVGYSSTRASSVPI
IPSVGLEETCLQMPGISEVKSIKWCKNSYSADVVNVSIPVSDCLIAEQQEVKILLETVQE
QIRILTDARRSEDYELASVETEDSASENTAFLPLSPTAKSEREAQFVLRNEIQRDSALTK

Sequence length

720

Interactions

View interactions

	KEGG		Reactome
	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 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

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Aganglionic megacolon	Benign; Likely benign; Uncertain significance	rs138878772, rs1884282, rs17101196, rs2295933	RCV000736040 RCV000984711 RCV000984712 RCV000984713

Show/Hide Text Mining Associations (30)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	35029906
Alzheimer Disease	Associate	40631452
Astrocytoma	Associate	37932833
Attention Deficit Disorder with Hyperactivity	Associate	22831755
Autism Spectrum Disorder	Associate	22952857
Autistic Disorder	Associate	20713722
Bipolar Disorder	Associate	22831755, 27063557, 27771971
Bone Marrow Diseases	Associate	20465808
Brain Diseases	Associate	27771971
Cognition Disorders	Associate	20713722, 22831755, 32066712
Colorectal Neoplasms	Associate	33078631
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	27771971
Delusional Parasitosis	Associate	19118813, 20713722, 21762460
Depressive Disorder Major	Associate	27771971
Developmental Disabilities	Associate	20713722
Endometrial Neoplasms	Associate	33577492
Gastrointestinal Neoplasms	Associate	34484469
Glioblastoma	Associate	34054873
Glioma	Associate	34054873
Growth Disorders	Associate	20465808
Hirschsprung Disease	Associate	22589734, 27889765, 28256518
Melanoma	Associate	24709886
Mental Disorders	Associate	27771971
Mood Disorders	Associate	27771971
Multiple Myeloma	Associate	20465808, 25268740
Neoplasms	Associate	34054873, 34484469, 37932833
Neurologic Manifestations	Associate	27771971
Psychotic Disorders	Associate	22831755
Schizophrenia	Associate	19118813, 20713722, 21762460, 22831755, 22952857, 27771971, 31596458, 32066712
Schizophrenia	Stimulate	27771971

NRG3 (neuregulin 3)