JUN
Jun proto-oncogene, AP-1 transcription factor subunit, the group of Basic leucine zipper proteins|Jun transcription factor family
Basic information
Region (hg38): 1:58776845-58784048
Links
Phenotypes
GenCC
Source:
No genCC data.
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 JUN 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 | 2 | |||||
| missense | 5 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 5 | 1 | 1 |
Variants in JUN
This is a list of pathogenic ClinVar variants found in the JUN region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 1-58782129-G-T | not specified | Uncertain significance (Apr 15, 2024) | ||
| 1-58782163-T-A | not specified | Uncertain significance (Mar 28, 2024) | ||
| 1-58782203-G-C | not specified | Uncertain significance (Apr 04, 2024) | ||
| 1-58782411-CG-C | Breast neoplasm | Pathogenic (-) | ||
| 1-58782413-G-C | not specified | Uncertain significance (Jan 23, 2024) | ||
| 1-58782418-T-C | not specified | Uncertain significance (May 30, 2024) | ||
| 1-58782512-C-A | not specified | Uncertain significance (Mar 31, 2023) | ||
| 1-58782598-C-T | not specified | Uncertain significance (Jan 09, 2024) | ||
| 1-58782606-G-A | Likely benign (Mar 29, 2018) | |||
| 1-58782677-A-G | not specified | Uncertain significance (Dec 14, 2023) | ||
| 1-58782852-C-A | Benign (Dec 31, 2019) | |||
| 1-58783031-G-A | not specified | Uncertain significance (Sep 17, 2021) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| JUN | protein_coding | protein_coding | ENST00000371222 | 1 | 3321 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.0596 | 0.875 | 0 | 0 | 0 | 0 | 0.00 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.19 | 142 | 188 | 0.755 | 0.00000860 | 2140 |
| Missense in Polyphen | 21 | 59.25 | 0.35443 | 742 | ||
| Synonymous | -1.19 | 102 | 87.9 | 1.16 | 0.00000429 | 698 |
| Loss of Function | 1.55 | 3 | 7.60 | 0.395 | 3.35e-7 | 82 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00 | 0.00 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.00 | 0.00 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Transcription factor that recognizes and binds to the enhancer heptamer motif 5'-TGA[CG]TCA-3'. Promotes activity of NR5A1 when phosphorylated by HIPK3 leading to increased steroidogenic gene expression upon cAMP signaling pathway stimulation. Involved in activated KRAS-mediated transcriptional activation of USP28 in colorectal cancer (CRC) cells (PubMed:24623306). Binds to the USP28 promoter in colorectal cancer (CRC) cells (PubMed:24623306). {ECO:0000269|PubMed:10995748, ECO:0000269|PubMed:17210646, ECO:0000269|PubMed:24623306}.;
- Pathway
- Focal adhesion - Homo sapiens (human);Relaxin signaling pathway - Homo sapiens (human);Oxytocin signaling pathway - Homo sapiens (human);T cell receptor signaling pathway - Homo sapiens (human);B cell receptor signaling pathway - Homo sapiens (human);Kaposi,s sarcoma-associated herpesvirus infection - Homo sapiens (human);Pertussis - Homo sapiens (human);Salmonella infection - Homo sapiens (human);Renal cell carcinoma - Homo sapiens (human);Neurotrophin signaling pathway - Homo sapiens (human);Choline metabolism in cancer - Homo sapiens (human);Non-alcoholic fatty liver disease (NAFLD) - Homo sapiens (human);AGE-RAGE signaling pathway in diabetic complications - Homo sapiens (human);Tight junction - Homo sapiens (human);Influenza A - Homo sapiens (human);Inflammatory bowel disease (IBD) - Homo sapiens (human);GnRH signaling pathway - Homo sapiens (human);Breast cancer - Homo sapiens (human);ErbB signaling pathway - Homo sapiens (human);TNF signaling pathway - Homo sapiens (human);HTLV-I infection - Homo sapiens (human);Mitophagy - animal - Homo sapiens (human);Epithelial cell signaling in Helicobacter pylori infection - Homo sapiens (human);Chagas disease (American trypanosomiasis) - Homo sapiens (human);Toll-like receptor signaling pathway - Homo sapiens (human);NOD-like receptor signaling pathway - Homo sapiens (human);cAMP signaling pathway - Homo sapiens (human);Estrogen signaling pathway - Homo sapiens (human);Fluid shear stress and atherosclerosis - Homo sapiens (human);C-type lectin receptor signaling pathway - Homo sapiens (human);Th17 cell differentiation - Homo sapiens (human);Th1 and Th2 cell differentiation - Homo sapiens (human);MAPK signaling pathway - Homo sapiens (human);Leishmaniasis - Homo sapiens (human);IL-17 signaling pathway - Homo sapiens (human);Amphetamine addiction - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);Viral carcinogenesis - Homo sapiens (human);Hepatitis B - Homo sapiens (human);Rheumatoid arthritis - Homo sapiens (human);Osteoclast differentiation - Homo sapiens (human);Wnt signaling pathway - Homo sapiens (human);Apoptosis - Homo sapiens (human);Epstein-Barr virus infection - Homo sapiens (human);Colorectal cancer - Homo sapiens (human);Cocaine addiction - Homo sapiens (human);EGFR Inhibitor Pathway, Pharmacodynamics;Herpes simplex infection - Homo sapiens (human);Vemurafenib Pathway, Pharmacodynamics;update your name in edit mode;Tacrolimus/Cyclosporine Pathway, Pharmacodynamics;Intracellular Signalling Through Adenosine Receptor A2b and Adenosine;Intracellular Signalling Through Adenosine Receptor A2a and Adenosine;EGF-Core;WNT-Core;IL-5 Signaling Pathway;Androgen receptor signaling pathway;Regulation of toll-like receptor signaling pathway;Physiological and Pathological Hypertrophy of the Heart;Apoptosis Modulation and Signaling;IL-1 signaling pathway;Integrated Breast Cancer Pathway;RANKL-RANK (Receptor activator of NFKB (ligand)) Signaling Pathway;Human Thyroid Stimulating Hormone (TSH) signaling pathway;TNF related weak inducer of apoptosis (TWEAK) Signaling Pathway;Prolactin Signaling Pathway;Androgen Receptor Network in Prostate Cancer;B Cell Receptor Signaling Pathway;TNF alpha Signaling Pathway;AGE-RAGE pathway;Brain-Derived Neurotrophic Factor (BDNF) signaling pathway;Quercetin and Nf-kB- AP-1 Induced Cell Apoptosis;ATM Signaling Pathway;Integrated Lung Cancer Pathway;Apoptosis;Polycystic Kidney Disease Pathway;JAK-STAT;Selenium Metabolism and Selenoproteins;IL-3 Signaling Pathway;Aryl Hydrocarbon Receptor Pathway;Glucocorticoid Receptor Pathway;Estrogen Receptor Pathway;Nuclear Receptors Meta-Pathway;nerve growth factor pathway (ngf);Myometrial Relaxation and Contraction Pathways;Focal Adhesion;Signaling of Hepatocyte Growth Factor Receptor;Fas Ligand (FasL) pathway and Stress induction of Heat Shock Proteins (HSP) regulation;Copper homeostasis;MFAP5-mediated ovarian cancer cell motility and invasiveness;Photodynamic therapy-induced AP-1 survival signaling.;Photodynamic therapy-induced NFE2L2 (NRF2) survival signaling;Apoptotic Signaling Pathway;Hepatitis C and Hepatocellular Carcinoma;TGF-beta Signaling Pathway;Association Between Physico-Chemical Features and Toxicity Associated Pathways;MAPK Signaling Pathway;T-Cell antigen Receptor (TCR) pathway during Staphylococcus aureus infection;VEGFA-VEGFR2 Signaling Pathway;BMP Signaling Pathway in Eyelid Development;ESC Pluripotency Pathways;PDGFR-beta pathway;Wnt Signaling Pathway and Pluripotency;MET in type 1 papillary renal cell carcinoma;Chromosomal and microsatellite instability in colorectal cancer;MAPK Cascade;Wnt Signaling Pathway;EGF-EGFR Signaling Pathway;Insulin Signaling;IL-2 Signaling Pathway;TGF-beta Receptor Signaling;Senescence and Autophagy in Cancer;ErbB Signaling Pathway;T-Cell antigen Receptor (TCR) Signaling Pathway;Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways;DNA Damage Response (only ATM dependent);Estrogen signaling pathway;Toll-like Receptor Signaling Pathway;RAGE;TLR NFkB;Toll Like Receptor 7/8 (TLR7/8) Cascade;Interleukin-17 signaling;Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer,s disease models;Neurodegenerative Diseases;Disease;Signal Transduction;Gene expression (Transcription);Signaling by Interleukins;mechanism of gene regulation by peroxisome proliferators via ppara;hypoxia-inducible factor in the cardivascular system;inhibition of cellular proliferation by gleevec;pertussis toxin-insensitive ccr5 signaling in macrophage;links between pyk2 and map kinases;il12 and stat4 dependent signaling pathway in th1 development;oxidative stress induced gene expression via nrf2;repression of pain sensation by the transcriptional regulator dream;role of egf receptor transactivation by gpcrs in cardiac hypertrophy;erythropoietin mediated neuroprotection through nf-kb;tsp-1 induced apoptosis in microvascular endothelial cell;angiotensin ii mediated activation of jnk pathway via pyk2 dependent signaling;cadmium induces dna synthesis and proliferation in macrophages;the information processing pathway at the ifn beta enhancer;signal transduction through il1r;tnf/stress related signaling;the 41bb-dependent immune response;mets affect on macrophage differentiation;t cell receptor signaling pathway;bcr signaling pathway;calcium signaling by hbx of hepatitis b virus;keratinocyte differentiation;toll-like receptor pathway;mapkinase signaling pathway;Generic Transcription Pathway;Prolactin;Cytokine Signaling in Immune system;Toll Like Receptor 9 (TLR9) Cascade;Alpha6Beta4Integrin;Oxidative Stress Induced Senescence;MyD88 cascade initiated on plasma membrane;Toll Like Receptor 10 (TLR10) Cascade;Toll Like Receptor 3 (TLR3) Cascade;MAPK6/MAPK4 signaling;Toll Like Receptor 5 (TLR5) Cascade;Toll-Like Receptors Cascades;Senescence-Associated Secretory Phenotype (SASP);Cellular Senescence;IL12 signaling mediated by STAT4;Cellular responses to stress;igf-1 signaling pathway;RNA Polymerase II Transcription;FCERI mediated MAPK activation;Fc epsilon receptor (FCERI) signaling;Innate Immune System;Immune System;KitReceptor;ATF-2 transcription factor network;BCR;IL-1 NFkB;AndrogenReceptor;IL-1 JNK;pdgf signaling pathway;IL1;Cellular responses to external stimuli;tpo signaling pathway;atm signaling pathway;TGF_beta_Receptor;fc epsilon receptor i signaling in mast cells;EGFR1;Activation of the AP-1 family of transcription factors;MAPK targets/ Nuclear events mediated by MAP kinases;MAP kinase activation;TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation;agrin in postsynaptic differentiation;TP53 Regulates Transcription of DNA Repair Genes;Glucocorticoid receptor regulatory network;d4gdi signaling pathway;ErbB1 downstream signaling;Regulation of PTEN gene transcription;MyD88 dependent cascade initiated on endosome;MAPK family signaling cascades;BCR signaling pathway;PTEN Regulation;PIP3 activates AKT signaling;PDGF;IL2;FOXA1 transcription factor network;Signaling by Nuclear Receptors;Signaling events regulated by Ret tyrosine kinase;IL2-mediated signaling events;Gastrin;Transcriptional Regulation by TP53;Direct p53 effectors;IL5;TGF-beta signaling TAK1;Estrogen-dependent gene expression;TLR ECSIT MEKK1 JNK;IL6;Wnt;TNFalpha;TLR JNK;Integrin-linked kinase signaling;TRIF(TICAM1)-mediated TLR4 signaling ;MyD88-independent TLR4 cascade ;Toll Like Receptor 4 (TLR4) Cascade;TNF;ESR-mediated signaling;EGF;ErbB2/ErbB3 signaling events;Intracellular signaling by second messengers;MyD88:Mal cascade initiated on plasma membrane;Toll Like Receptor TLR1:TLR2 Cascade;Toll Like Receptor TLR6:TLR2 Cascade;Toll Like Receptor 2 (TLR2) Cascade;Osteopontin-mediated events;Regulation of nuclear beta catenin signaling and target gene transcription;Signaling mediated by p38-alpha and p38-beta;RAC1 signaling pathway;CD40/CD40L signaling;LPA receptor mediated events;Validated nuclear estrogen receptor alpha network;CDC42 signaling events;Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met);Downstream signaling in naïve CD8+ T cells;Fc-epsilon receptor I signaling in mast cells;Calcineurin-regulated NFAT-dependent transcription in lymphocytes;Regulation of Telomerase;Signaling events mediated by focal adhesion kinase;AP-1 transcription factor network;HIF-1-alpha transcription factor network;Regulation of Androgen receptor activity;JNK signaling in the CD4+ TCR pathway;PDGFR-beta signaling pathway;IL1-mediated signaling events;Validated transcriptional targets of AP1 family members Fra1 and Fra2;Regulation of retinoblastoma protein;Regulation of nuclear SMAD2/3 signaling;IL6-mediated signaling events;Endothelins;Presenilin action in Notch and Wnt signaling;FGF signaling pathway;Nephrin/Neph1 signaling in the kidney podocyte;PDGFR-alpha signaling pathway;Calcium signaling in the CD4+ TCR pathway;RhoA signaling pathway;S1P2 pathway;CD4 T cell receptor signaling-JNK cascade;CD4 T cell receptor signaling
(Consensus)
Recessive Scores
- pRec
- 0.133
Intolerance Scores
- loftool
- rvis_EVS
- -0.19
- rvis_percentile_EVS
- 39.68
Haploinsufficiency Scores
- pHI
- 1.00
- hipred
- Y
- hipred_score
- 0.713
- ghis
- 0.589
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 1.00
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Jun
- Phenotype
- immune system phenotype; skeleton phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); vision/eye phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); hematopoietic 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); normal phenotype; embryo phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); respiratory system phenotype; liver/biliary system phenotype; homeostasis/metabolism phenotype; cellular phenotype; growth/size/body region phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); endocrine/exocrine gland phenotype;
Zebrafish Information Network
- Gene name
- jun
- Affected structure
- post-vent region
- Phenotype tag
- abnormal
- Phenotype quality
- decreased size
Gene ontology
- Biological process
- negative regulation of transcription by RNA polymerase II;angiogenesis;microglial cell activation;release of cytochrome c from mitochondria;liver development;positive regulation of endothelial cell proliferation;outflow tract morphogenesis;transcription by RNA polymerase II;transforming growth factor beta receptor signaling pathway;Ras protein signal transduction;aging;learning;circadian rhythm;negative regulation of cell population proliferation;response to radiation;response to mechanical stimulus;response to organic substance;positive regulation of epithelial cell migration;monocyte differentiation;axon regeneration;negative regulation of protein autophosphorylation;response to lipopolysaccharide;cellular response to hormone stimulus;response to cytokine;cellular response to reactive oxygen species;leading edge cell differentiation;response to muscle stretch;Fc-epsilon receptor signaling pathway;response to drug;response to hydrogen peroxide;positive regulation of apoptotic process;negative regulation of DNA binding;negative regulation of neuron apoptotic process;positive regulation of neuron apoptotic process;positive regulation of GTPase activity;negative regulation by host of viral transcription;positive regulation by host of viral transcription;positive regulation of cell differentiation;positive regulation of monocyte differentiation;positive regulation of DNA replication;negative regulation of transcription, DNA-templated;positive regulation of transcription, DNA-templated;positive regulation of transcription by RNA polymerase II;positive regulation of fibroblast proliferation;regulation of DNA-binding transcription factor activity;cellular response to potassium ion starvation;response to cAMP;regulation of cell cycle;membrane depolarization;SMAD protein signal transduction;eyelid development in camera-type eye;positive regulation of ERK1 and ERK2 cascade;cellular response to cadmium ion;cellular response to calcium ion;positive regulation of pri-miRNA transcription by RNA polymerase II;positive regulation of vascular smooth muscle cell proliferation;negative regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress;positive regulation of DNA-templated transcription, initiation
- Cellular component
- nuclear chromosome;nuclear chromatin;nucleus;nucleoplasm;transcription factor complex;nuclear euchromatin;cytosol;transcriptional repressor complex;transcription factor AP-1 complex
- Molecular function
- RNA polymerase II proximal promoter sequence-specific DNA binding;RNA polymerase II distal enhancer sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;RNA polymerase II activating transcription factor binding;DNA-binding transcription activator activity, RNA polymerase II-specific;DNA binding;chromatin binding;DNA-binding transcription factor activity;transcription coactivator activity;RNA binding;GTPase activator activity;protein binding;transcription factor binding;enzyme binding;ubiquitin protein ligase binding;cAMP response element binding;identical protein binding;protein homodimerization activity;transcription regulatory region DNA binding;protein heterodimerization activity;R-SMAD binding;HMG box domain binding