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.

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	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
19-12791893-T-C	not specified	Uncertain significance (Aug 05, 2024)	3531601
19-12791906-C-A	not specified	Uncertain significance (Aug 20, 2024)	3531604
19-12791935-C-A	not specified	Uncertain significance (May 28, 2024)	3287280
19-12791941-G-T	not specified	Uncertain significance (Nov 08, 2024)	3531600
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
19-12792424-A-G	not specified	Uncertain significance (Aug 12, 2024)	3531602
19-12792432-C-T	not specified	Uncertain significance (May 10, 2024)	3287276
19-12792450-C-T	not specified	Uncertain significance (Jun 24, 2022)	2296704
19-12792451-C-A	not specified	Uncertain significance (Nov 22, 2024)	3531603
19-12792756-A-C	not specified	Uncertain significance (May 27, 2022)	2291776

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
0.863	0.135	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

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

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

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