JUNB

JunB proto-oncogene, AP-1 transcription factor subunit, the group of Jun transcription factor family|Basic leucine zipper proteins

Basic information

Region (hg38): 19:12791486-12793315

Links

ENSG00000171223NCBI:3726OMIM:165161HGNC:6205Uniprot:P17275AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the JUNB gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the JUNB 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
8
clinvar
8
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 8 0 0

Variants in JUNB

This is a list of pathogenic ClinVar variants found in the JUNB region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
19-12791797-T-C not specified Uncertain significance (Mar 07, 2024)3112560
19-12791810-C-A not specified Uncertain significance (Mar 24, 2023)2529796
19-12791935-C-A not specified Uncertain significance (May 28, 2024)3287280
19-12791971-G-C not specified Uncertain significance (Nov 12, 2021)2378182
19-12792009-C-T not specified Uncertain significance (Dec 27, 2023)3112559
19-12792225-G-T not specified Uncertain significance (May 17, 2023)2547032
19-12792252-G-A not specified Uncertain significance (May 21, 2024)3287278
19-12792253-C-T not specified Uncertain significance (Jun 07, 2024)3287281
19-12792264-C-G not specified Uncertain significance (Apr 23, 2024)3287277
19-12792276-C-T not specified Uncertain significance (May 26, 2024)3287279
19-12792279-G-A not specified Uncertain significance (Sep 12, 2023)2622294
19-12792432-C-T not specified Uncertain significance (May 10, 2024)3287276
19-12792450-C-T not specified Uncertain significance (Jun 24, 2022)2296704
19-12792756-A-C not specified Uncertain significance (May 27, 2022)2291776

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
JUNBprotein_codingprotein_codingENST00000302754 11815
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.8630.13500000.00
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense2.171111970.5640.000008862135
Missense in Polyphen1559.4990.25211654
Synonymous1.287893.80.8320.00000444776
Loss of Function2.3606.510.002.75e-786

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.000.00
Middle Eastern0.000.00
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Transcription factor involved in regulating gene activity following the primary growth factor response. Binds to the DNA sequence 5'-TGA[CG]TCA-3'.;
Pathway
TNF signaling pathway - Homo sapiens (human);Osteoclast differentiation - Homo sapiens (human);Tacrolimus/Cyclosporine Pathway, Pharmacodynamics;Transcriptional activity of SMAD2-SMAD3-SMAD4 heterotrimer;Corticotropin-releasing hormone signaling pathway;Oncostatin M Signaling Pathway;Aryl Hydrocarbon Receptor Pathway;Vitamin D Receptor Pathway;Nuclear Receptors Meta-Pathway;Kit receptor signaling pathway;Photodynamic therapy-induced AP-1 survival signaling.;IL-6 signaling pathway;TGF-beta Signaling Pathway;Interleukin-4 and 13 signaling;Oxidative Stress;gata3 participate in activating the th2 cytokine genes expression;Oncostatin_M;ATF-2 transcription factor network;BCR;TGF_beta_Receptor;TNFalpha;Downstream signaling in naïve CD8+ T cells;Calcineurin-regulated NFAT-dependent transcription in lymphocytes;AP-1 transcription factor network;Validated transcriptional targets of AP1 family members Fra1 and Fra2;IL6-mediated signaling events;Calcium signaling in the CD4+ TCR pathway (Consensus)

Recessive Scores

pRec
0.127

Haploinsufficiency Scores

pHI
0.962
hipred
Y
hipred_score
0.706
ghis
0.561

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
E
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
1.00

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Junb
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); cellular phenotype; homeostasis/metabolism 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); hematopoietic system 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); neoplasm; immune system phenotype; skeleton phenotype; renal/urinary system phenotype; limbs/digits/tail phenotype;

Zebrafish Information Network

Gene name
junbb
Affected structure
vascular lymphangioblast
Phenotype tag
abnormal
Phenotype quality
absent

Gene ontology

Biological process
negative regulation of transcription by RNA polymerase II;vasculogenesis;osteoblast differentiation;trophectodermal cell differentiation;regulation of transcription by RNA polymerase II;response to radiation;response to mechanical stimulus;response to organic substance;cytokine-mediated signaling pathway;osteoclast differentiation;response to lipopolysaccharide;cellular response to hormone stimulus;osteoblast proliferation;response to cytokine;response to drug;positive regulation of cell differentiation;positive regulation of transcription by RNA polymerase II;decidualization;response to cAMP;regulation of cell cycle;embryonic process involved in female pregnancy;labyrinthine layer blood vessel development;cellular response to calcium ion
Cellular component
chromatin;nuclear chromatin;nucleoplasm;transcription factor complex;transcription factor AP-1 complex
Molecular function
RNA polymerase II proximal promoter sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription activator activity, RNA polymerase II-specific;DNA binding;transcription coactivator activity;transcription corepressor activity;protein binding;transcription factor binding