BATF
Basic Leucine Zipper ATF-Like Transcription Factor
Gene Information Card
| Symbol | BATF |
|---|---|
| Full Name | Basic Leucine Zipper ATF-Like Transcription Factor |
| Gene Type | Protein coding |
| Chromosomal Location | 14q24.3 |
| NCBI Gene ID | 10538 ncbi.nlm.nih.gov/gene/10538 |
| Ensembl ID | ENSG00000156127 |
| UniProt ID | Q16520 |
| OMIM ID | 612476 |
| HGNC ID | 958 |
| Aliases | B-ATF, SFA-2, BATF1 |
Description
BATF encodes a basic leucine zipper (bZIP) transcription factor belonging to the AP-1/ATF superfamily. It forms heterodimers with Jun proteins to regulate gene expression critical for the differentiation of T helper 17 (Th17) cells, follicular helper T (Tfh) cells, and B cells. BATF is also involved in dendritic cell homeostasis and immune response modulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Immunodeficiency 60 (IMD60) | Loss-of-function mutations impair Th17 and Tfh differentiation, leading to recurrent infections | PMID: 30552067 |
| Rheumatoid arthritis | BATF overexpression promotes Th17-mediated inflammation | PMID: 22105173 |
| Systemic lupus erythematosus | BATF variants associated with altered B cell function and autoantibody production | PMID: 25658027 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.8 | Medium |
| Bone marrow | 8.2 | Low |
| Thymus | 7.9 | Low |
| Lung | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Jurkat (T-cell leukemia) | 15.2 | High expression |
| Raji (Burkitt lymphoma) | 12.8 | High expression |
| K562 (erythroleukemia) | 4.5 | Low expression |
| HeLa (cervical carcinoma) | 2.1 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.58C>T (p.Arg20*) | Nonsense | Rare | Loss of function; associated with IMD60 |
| c.164G>A (p.Arg55Gln) | Missense | Rare | Impaired DNA binding and transactivation |
| c.226_227del (p.Leu76fs) | Frameshift | Rare | Loss of function; immunodeficiency |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and missense mutations that disrupt DNA binding or heterodimerization lead to loss of transcriptional activity, impairing Th17 and Tfh differentiation.
Gain of Function (GOF)
Not well documented; no recurrent activating mutations reported in COSMIC or ClinVar.
Dominant Negative (DN)
Some missense variants (e.g., p.Arg55Gln) may act as dominant-negative by forming nonfunctional dimers with Jun proteins.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Th17 cell differentiation (KEGG: hsa04659)
• T cell receptor signaling pathway (KEGG: hsa04660)
• IL-17 signaling pathway (KEGG: hsa04657)
Protein Summary
BATF is a 125-amino acid nuclear protein containing a basic region for DNA binding and a leucine zipper domain for dimerization. It preferentially heterodimerizes with JunB or c-Jun to bind AP-1/ATF response elements. BATF is essential for the development of Th17 and Tfh cells, and for germinal center B cell responses. Its expression is tightly regulated in immune cells.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BATF2 Knockout HEK293T Cell Line | EDJ-KQ154 | Human | 116071 | Details Get a Quote |
| BATF Knockout HEK293 Cell Line | EDJ-KQ7088 | Human | 10538 | Details Get a Quote |
| BATF2 Knockout HEK293 Cell Line | EDJ-KQ12517 | Human | 116071 | Details Get a Quote |
| BATF3 Knockout HEK293 Cell Line | EDJ-KQ12518 | Human | 55509 | Details Get a Quote |
| BATF2 Knockout HCT 116 Cell Line | EDJ-KQ41500 | Human | 116071 | 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 |
| BATF Knockout HeLa Cell Line | EDJ-KQ55426 | Human | 10538 | Details Get a Quote |
| BATF2 Knockout HeLa Cell Line | EDJ-KQ57967 | Human | 116071 | Details Get a Quote |
| BATF Knockout A-549 Cell Line | EDJ-KQ63905 | Human | 10538 | Details Get a Quote |
| BATF2 Knockout A-549 Cell Line | EDJ-KQ66457 | Human | 116071 | Details Get a Quote |
| BATF Knockout HCT 116 Cell Line | EDJ-KQ72364 | Human | 10538 | Details Get a Quote |
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