BATF3

Basic Leucine Zipper ATF-Like Transcription Factor 3

Gene Information Card

Symbol BATF3
Full Name Basic Leucine Zipper ATF-Like Transcription Factor 3
Gene Type Protein-coding
Chromosomal Location 1q32.3
NCBI Gene ID 55509 ncbi.nlm.nih.gov/gene/55509
Ensembl ID ENSG00000123685
UniProt ID Q9NR55
OMIM ID 612800
HGNC ID 958
Aliases BATF3, BATF-like, JDP1, SNFT

Description

BATF3 encodes a basic leucine zipper (bZIP) transcription factor belonging to the AP-1/ATF superfamily. It forms heterodimers with JUN family proteins and is essential for the development of CD8α+ dendritic cells and immune homeostasis. BATF3 regulates gene expression in response to immune signals and is implicated in dendritic cell lineage specification.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Immunodeficiency (dendritic cell deficiency) Loss-of-function mutations impair CD8α+ dendritic cell development ClinVar, OMIM
Colorectal cancer Altered BATF3 expression may affect anti-tumor immunity COSMIC, literature
Melanoma BATF3-dependent dendritic cells influence T-cell priming NCBI, literature

Expression Profile

Tissue Expression
Tissue nTPM level
Spleen 12.5 Medium
Lymph node 10.8 Medium
Bone marrow 8.2 Low
Thymus 7.1 Low
Lung 3.4 Not detected
Cell Line Expression
Cell Line nTPM Notes
K562 0.0 Not expressed
HeLa 0.0 Not expressed
HepG2 0.0 Not expressed
Monocytes-derived dendritic cells 15.2 High expression
CD8+ T cells 2.1 Low expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.202C>T (p.Arg68*) Nonsense Rare Loss of function; truncated protein
c.347G>A (p.Arg116Gln) Missense <0.01% Unknown significance
c.1A>G (p.Met1?) Start loss Rare Loss of function; no translation
Mutation functional classification

Loss of Function (LOF)

Nonsense and start-loss variants lead to truncated or absent protein, impairing dendritic cell development.

Gain of Function (GOF)

No gain-of-function mutations reported in BATF3.

Dominant Negative (DN)

No dominant-negative mutations reported in BATF3.

Pathways

AP-1 transcription factor network
Dendritic cell development pathway
IL-12 signaling pathway

Protein Summary

BATF3 is a 125-amino acid bZIP transcription factor that heterodimerizes with JUN proteins to regulate gene expression. It is critical for the development of CD8α+ conventional dendritic cells (cDC1s) and plays a role in immune surveillance. The protein localizes to the nucleus and binds to AP-1/ATF DNA response elements.

Related Products

Product name Cat.No. Species Gene ID
BATF3 Knockout HEK293 Cell Line EDJ-KQ12518 Human 55509 Details Get a Quote
BATF3 Knockout A-549 Cell Line EDJ-KQ41501 Human 55509 Details Get a Quote
BATF3 Knockout HCT 116 Cell Line EDJ-KQ41502 Human 55509 Details Get a Quote
BATF3 Knockout HeLa Cell Line EDJ-KQ41503 Human 55509 Details Get a Quote
Displaying Records 1 To 4 Of 4 Records
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