NRG2
Basic information
Region (hg38): 5:139846779-140043299
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the NRG2 gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
---|---|---|---|---|---|---|
synonymous | 0 | |||||
missense | 83 | 10 | 93 | |||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 1 | |||||
splice donor/acceptor (+/-2bp) | 1 | |||||
splice region | 1 | 1 | ||||
non coding | 0 | |||||
Total | 0 | 0 | 84 | 10 | 1 |
Variants in NRG2
This is a list of pathogenic ClinVar variants found in the NRG2 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
5-139847993-C-T | not specified | Uncertain significance (Sep 02, 2024) | ||
5-139848050-G-A | not specified | Uncertain significance (Dec 01, 2023) | ||
5-139848069-C-A | not specified | Uncertain significance (Jul 13, 2021) | ||
5-139848071-C-G | not specified | Likely benign (Apr 07, 2023) | ||
5-139848096-T-G | not specified | Uncertain significance (Feb 21, 2024) | ||
5-139848098-T-C | not specified | Uncertain significance (Mar 29, 2024) | ||
5-139848102-C-T | not specified | Uncertain significance (Aug 19, 2023) | ||
5-139848111-C-T | Likely benign (Nov 01, 2024) | |||
5-139848194-G-A | not specified | Uncertain significance (Nov 18, 2022) | ||
5-139848200-C-G | not specified | Uncertain significance (Jun 22, 2023) | ||
5-139848201-G-A | not specified | Uncertain significance (Oct 26, 2022) | ||
5-139848207-G-C | not specified | Uncertain significance (Aug 15, 2023) | ||
5-139848215-G-T | not specified | Uncertain significance (Jan 04, 2022) | ||
5-139848221-C-A | not specified | Uncertain significance (Apr 25, 2022) | ||
5-139848246-G-C | not specified | Uncertain significance (Apr 12, 2023) | ||
5-139848261-A-G | not specified | Uncertain significance (Jun 30, 2022) | ||
5-139848264-T-C | not specified | Uncertain significance (Mar 27, 2023) | ||
5-139848273-A-G | not specified | Uncertain significance (Jul 20, 2021) | ||
5-139848284-G-T | not specified | Uncertain significance (Sep 23, 2023) | ||
5-139848291-G-A | not specified | Uncertain significance (May 31, 2022) | ||
5-139848293-C-G | not specified | Uncertain significance (Apr 07, 2023) | ||
5-139848348-G-C | not specified | Uncertain significance (Jan 08, 2024) | ||
5-139848349-G-C | not specified | Uncertain significance (Apr 23, 2024) | ||
5-139848375-T-C | not specified | Uncertain significance (Nov 07, 2022) | ||
5-139848380-A-G | not specified | Uncertain significance (Aug 30, 2021) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
NRG2 | protein_coding | protein_coding | ENST00000361474 | 10 | 196521 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.999 | 0.000746 | 125724 | 0 | 2 | 125726 | 0.00000795 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 2.27 | 281 | 411 | 0.684 | 0.0000238 | 5373 |
Missense in Polyphen | 110 | 175.49 | 0.62683 | 2177 | ||
Synonymous | 1.06 | 161 | 179 | 0.899 | 0.0000110 | 1786 |
Loss of Function | 4.70 | 2 | 29.6 | 0.0675 | 0.00000151 | 366 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00 | 0.00 |
Ashkenazi Jewish | 0.0000993 | 0.0000992 |
East Asian | 0.00 | 0.00 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.00000886 | 0.00000879 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.00 | 0.00 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- 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. May also promote the heterodimerization with the EGF receptor.;
- Pathway
- ErbB signaling pathway - Homo sapiens (human);EGFR Inhibitor Pathway, Pharmacodynamics;EGF-Core;ErbB Signaling Pathway;SHC1 events in ERBB2 signaling;Signaling by PTK6;Disease;Signal Transduction;neuroregulin receptor degredation protein-1 controls erbb3 receptor recycling;g-secretase mediated erbb4 signaling pathway;ERBB2 Activates PTK6 Signaling;GPCR signaling-G alpha q;GPCR signaling-cholera toxin;GPCR signaling-pertussis toxin;ErbB4 signaling events;GPCR signaling-G alpha s Epac and ERK;Downregulation of ERBB2:ERBB3 signaling;Downregulation of ERBB2 signaling;GPCR signaling-G alpha s PKA and ERK;agrin in postsynaptic differentiation;RAF/MAP kinase cascade;MAPK1/MAPK3 signaling;MAPK family signaling cascades;PIP3 activates AKT signaling;GRB2 events in ERBB2 signaling;Signaling by Non-Receptor Tyrosine Kinases;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;Negative regulation of the PI3K/AKT network;Constitutive Signaling by Aberrant PI3K in Cancer;PI3K events in ERBB2 signaling;GRB7 events in ERBB2 signaling;Signaling by ERBB2;ERBB2 Regulates Cell Motility;SHC1 events in ERBB4 signaling;PI3K/AKT Signaling in Cancer;PI3K events in ERBB4 signaling;GPCR signaling-G alpha i;Nuclear signaling by ERBB4;Signaling by ERBB4;Signaling by Receptor Tyrosine Kinases;Intracellular signaling by second messengers;Diseases of signal transduction;ErbB receptor signaling network
(Consensus)
Recessive Scores
- pRec
- 0.148
Haploinsufficiency Scores
- pHI
- 0.871
- hipred
- Y
- hipred_score
- 0.647
- ghis
- 0.513
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.898
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Nrg2
- Phenotype
- reproductive system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); growth/size/body region phenotype;
Zebrafish Information Network
- Gene name
- nrg2a
- Affected structure
- cardiac muscle cell
- Phenotype tag
- abnormal
- Phenotype quality
- decreased process quality
Gene ontology
- Biological process
- MAPK cascade;signal transduction;nervous system development;regulation of signaling receptor activity;peptidyl-tyrosine phosphorylation;intracellular signal transduction;ERBB2 signaling pathway;phosphatidylinositol phosphorylation;positive regulation of protein kinase B signaling;regulation of cell motility
- Cellular component
- extracellular region;extracellular space;plasma membrane;integral component of membrane
- Molecular function
- protein tyrosine kinase activity;Ras guanyl-nucleotide exchange factor activity;signaling receptor binding;growth factor activity;phosphatidylinositol-4,5-bisphosphate 3-kinase activity