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

ENSG00000171223 ∙ NCBI:3726 ∙ OMIM:165161 ∙ HGNC:6205 ∙ Uniprot:P17275 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

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

• not_specified (34 variants)

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. These statistics are base on transcript: NM_000002229.3. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			34			34
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	34	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
JUNB	protein_coding	protein_coding	ENST00000302754	1	1815

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
		0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.17	111	197	0.564	0.00000886	2135
Missense in Polyphen		15	59.499	0.25211		654
Synonymous	1.28	78	93.8	0.832	0.00000444	776
Loss of Function	2.36	0	6.51	0.00	2.75e-7	86

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: 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

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

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

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