JUNB

protein-coding

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

Gene summary

Enables sequence-specific double-stranded DNA binding activity. Involved in positive regulation of transcription by RNA polymerase II. Located in nucleoplasm. Part of transcription factor AP-1 complex. Implicated in head and neck squamous cell carcinoma and melanoma. Biomarker of gastrointestinal system cancer (multiple); lung non-small cell carcinoma; and lymphoma (multiple). [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_002229.3

Inheritance

—

ClinVar variants

U:34

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0

Max pathogenic AF

—

Genomic locus

chr19:12,791,486-12,793,315

External References & Databases

Ensembl (ENSG00000171223)

Transcript & Mutation Effects

hg38 • Region Span ~1.8 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to JUNB variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 34

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_002229.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			34 clinvar			34
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	34	0	0	34

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 2 of 2 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_002229.3	RefSeq	NP_002220.1	1	MANE Select
ENST00000302754.6	Ensembl	ENSP00000303315.4	1	MANE Select

Model Organisms & Knockout Phenotypes

Observed phenotypic effects in mouse and zebrafish models

Gene / Model	Organism	Observed Phenotype
junbb	Danio rerio	Structure: vascular lymphangioblast Quality: absent abnormal

Gene / Model

Organism

Observed Phenotype

junbb

Danio rerio

Structure: vascular lymphangioblast

Quality: absent

abnormal

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

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

Biological Process

negative regulation of transcription by RNA polymerase II
vasculogenesis
osteoblast differentiation
trophectodermal cell differentiation
regulation of transcription by RNA polymerase II

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

Cellular Component

chromatin
nuclear chromatin
nucleoplasm
transcription factor complex
transcription factor AP-1 complex

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000302754
Coding exons: 1
Length: 1815
Individuals with no LoFs: 0
Homozygous LoFs: 0
Heterozygous LoFs: 0
Defined: 0
p: 0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	2.17	111	197	0.564	0.00000886	2135
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0	0.0	absent
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

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'.;

Recessive Scores

pRec: 0.127

Essentials

Essential (CRISPR): N
Essential (CRISPR2): E
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 1.00

Gene Damage Prediction

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