BATF2
gene geneOn this page
Also known as MGC20410SARI
Summary
BATF2 (basic leucine zipper ATF-like transcription factor 2, HGNC:25163) is a protein-coding gene on chromosome 11q13.1, encoding Basic leucine zipper transcriptional factor ATF-like 2 (Q8N1L9). AP-1 family transcription factor that controls the differentiation of lineage-specific cells in the immune system.
Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in defense response to protozoan; myeloid dendritic cell differentiation; and regulation of transcription by RNA polymerase II. Part of RNA polymerase II transcription regulator complex.
Source: NCBI Gene 116071 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 50 total
- MANE Select transcript:
NM_138456
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25163 |
| Approved symbol | BATF2 |
| Name | basic leucine zipper ATF-like transcription factor 2 |
| Location | 11q13.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC20410, SARI |
| Ensembl gene | ENSG00000168062 |
| Ensembl biotype | protein_coding |
| OMIM | 614983 |
| Entrez | 116071 |
Gene structure
Transcript identifiers
Ensembl transcripts: 5 — 4 protein_coding, 1 retained_intron
ENST00000301887, ENST00000435842, ENST00000527454, ENST00000527716, ENST00000534177
RefSeq mRNA: 3 — MANE Select: NM_138456
NM_001300807, NM_001300808, NM_138456
CCDS: CCDS73317, CCDS76429, CCDS8087
Canonical transcript exons
ENST00000301887 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001408542 | 64996876 | 64996971 |
| ENSE00001414327 | 64994448 | 64994549 |
| ENSE00002151448 | 64987945 | 64989812 |
Expression profiles
Bgee: expression breadth ubiquitous, 179 present calls, max score 91.95.
FANTOM5 (CAGE): breadth broad, TPM avg 4.5972 / max 987.8589, expressed in 615 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 120516 | 4.3061 | 543 |
| 120515 | 0.2911 | 144 |
Top tissues by expression
238 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| pancreatic ductal cell | CL:0002079 | 91.95 | silver quality |
| oocyte | CL:0000023 | 88.67 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 83.75 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 83.74 | gold quality |
| secondary oocyte | CL:0000655 | 81.06 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 80.44 | gold quality |
| spleen | UBERON:0002106 | 80.19 | gold quality |
| vermiform appendix | UBERON:0001154 | 79.04 | gold quality |
| apex of heart | UBERON:0002098 | 78.52 | gold quality |
| body of pancreas | UBERON:0001150 | 77.63 | gold quality |
| transverse colon | UBERON:0001157 | 77.50 | gold quality |
| ileal mucosa | UBERON:0000331 | 77.28 | gold quality |
| granulocyte | CL:0000094 | 76.90 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 76.68 | silver quality |
| endothelial cell | CL:0000115 | 76.44 | silver quality |
| rectum | UBERON:0001052 | 76.28 | gold quality |
| caecum | UBERON:0001153 | 76.24 | gold quality |
| kidney epithelium | UBERON:0004819 | 75.38 | gold quality |
| leukocyte | CL:0000738 | 75.35 | gold quality |
| monocyte | CL:0000576 | 75.29 | gold quality |
| pancreas | UBERON:0001264 | 74.75 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 74.62 | gold quality |
| colon | UBERON:0001155 | 74.49 | gold quality |
| large intestine | UBERON:0000059 | 74.44 | gold quality |
| small intestine | UBERON:0002108 | 74.26 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 74.17 | gold quality |
| duodenum | UBERON:0002114 | 74.08 | gold quality |
| intestine | UBERON:0000160 | 73.99 | gold quality |
| right lobe of liver | UBERON:0001114 | 73.79 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 73.71 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-7052 | no | 47.17 |
| E-ANND-3 | no | 1.99 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
1 targets.
| Target | Regulation |
|---|---|
| CCNA2 |
Upstream regulators (CollecTRI, top): CTCF
miRNA regulators (miRDB)
35 targeting BATF2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-4267 | 99.96 | 66.53 | 2368 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-377-5P | 99.70 | 65.28 | 712 |
| HSA-MIR-6086 | 99.70 | 65.38 | 699 |
| HSA-MIR-6883-5P | 99.69 | 68.05 | 3785 |
| HSA-MIR-143-3P | 99.49 | 69.05 | 1457 |
| HSA-MIR-4770 | 99.49 | 69.09 | 1451 |
| HSA-MIR-4688 | 99.48 | 64.68 | 828 |
| HSA-MIR-4666A-5P | 99.41 | 69.72 | 1887 |
| HSA-MIR-3152-3P | 99.10 | 66.35 | 678 |
| HSA-MIR-661 | 99.09 | 65.94 | 2062 |
| HSA-MIR-877-3P | 99.09 | 68.10 | 1637 |
| HSA-MIR-4796-3P | 99.08 | 68.38 | 1681 |
| HSA-MIR-1294 | 98.91 | 69.26 | 1030 |
| HSA-MIR-9986 | 98.91 | 69.28 | 1024 |
| HSA-MIR-455-5P | 98.74 | 67.31 | 795 |
| HSA-MIR-655-5P | 98.74 | 65.93 | 888 |
| HSA-MIR-6804-5P | 98.39 | 65.77 | 1084 |
| HSA-MIR-6884-3P | 98.05 | 65.32 | 750 |
| HSA-MIR-665 | 97.60 | 65.64 | 1781 |
| HSA-MIR-4640-5P | 97.42 | 66.33 | 1543 |
| HSA-MIR-194-3P | 97.36 | 65.96 | 1027 |
| HSA-MIR-4288 | 97.11 | 67.23 | 1636 |
| HSA-MIR-4474-3P | 96.97 | 65.87 | 870 |
| HSA-MIR-6762-5P | 96.55 | 64.62 | 972 |
| HSA-MIR-6845-5P | 96.55 | 64.65 | 969 |
| HSA-MIR-342-3P | 96.44 | 67.48 | 1344 |
| HSA-MIR-759 | 96.16 | 66.77 | 873 |
Literature-anchored findings (GeneRIF, showing 34)
- Decreased expression of BATF2 is associated with hepatocellular carcinoma. (PMID:20473897)
- Inhibition of AP-1 by SARI negatively regulates transformation progression mediated by CCN1. (PMID:20531301)
- BCR-ABL mediates the down-regulation of SARI mRNA expression in K562 cells. (PMID:21867603)
- Data suggest that SARI as a potential therapeutic target in CML. (PMID:21892628)
- Loss of SARI expression initiates epithelial-to-mesenchymal transition (EMT), which is visualized by repression of E-cadherin and up-regulation of vimentin in lung adenocarcinoma cell lines and in clinical lung adenocarcinoma specimens. (PMID:23049725)
- SARI expression may predict a poor prognosis in non-small cell lung patients, and SARI may serve as a prognostic biomarker and potential therapeutic target for lung cancer. (PMID:24133583)
- BATF2 plays a tumor-suppressor role in the development of oral tongue squamous cell carcinoma and BATF2 may serve as a prognostic biomarker and potential therapeutic target for this disease. (PMID:24252932)
- MDA-7/IL-24 has a role in cancer-specific apoptosis through SARI induction (PMID:24282278)
- these novel findings suggest that BATF2, a tumor suppressor gene, is a potent negative regulator of HGF/MET signaling in colorectal cancer (PMID:25762344)
- these findings indicate that BATF2 status could be served as a potential biomarker to predict prognosis in colorectal cancer (PMID:26022579)
- In conclusion, as a tumor suppressor, BATF2 serves as a prognostic biomarker of esophageal squamous cell carcinoma and it may be a potential therapeutic target for ESCC treatment. (PMID:26135942)
- Suggest that SARI might play an important role in the occurrence and development of prostate cancer. IFN-beta might inhibit the growth of prostate cancer and promote cellular apoptosis by inducing the expression of SARI. (PMID:26339361)
- Batf2 has a role in infectious diseases and cancer (PMID:26376615)
- Results demonstrate that SARI is a novel target gene of glucocorticoid receptor, and the upregulation of SARI plays an important role in dexamethasone’s killing effect on B lymphoma cells. (PMID:26808579)
- BATF2 may exert selective pressure on the recombination machinery via a repetitive motif-based mechanism for the maintenance of heterochromatin stability. (PMID:26977016)
- BATF2 gene was modulated after treatment with zebularine and was a poor prognostic marker, since its low levels were correlated with relapse and a poor prognosis for medulloblastoma patients. (PMID:27785591)
- Gain- and loss-of-function studies uncovered a role for Batf2 in myeloid differentiation in both murine and human systems. We thus demonstrate that chronic infection can deplete HSPCs and identify BATF2 as a mediator of infection-induced HSPC terminal differentiation (PMID:27926863)
- Our findings expanded the understanding of the role of BATF2 in tumors, and also suggested a potential of using BATF2 as a therapeutic target to hinder bevacizumab induced epithelial-mesenchymal transition in glioblastoma. (PMID:28739720)
- BATF2 gene expression is associated with tuberculosis in the HIV infected patients. (PMID:29764370)
- BATF2 role in the multidrug resistance of human gastric cancer cells and the regulation of the Wnt/beta-catenin signaling. (PMID:31140101)
- BATF2 was overexpressed in tissues from patients with non-responsive gastric cancer (GC) and the vincristine resistance cell line, SGC7901/VCR, while levels of c-Fos and c-Jun were reduced. AP-1 down-regulation by BATF2 overexpression or AP-1 knockdown can inhibit drug resistance in GC cells. These findings suggest that BATF2 inhibits DR in vincristine resistance GC cell line by down-regulating AP-1 expression. (PMID:31549215)
- SARI prevents ocular angiogenesis and inflammation in mice. (PMID:32119762)
- miRNA-765 mediates multidrug resistance via targeting BATF2 in gastric cancer cells. (PMID:32166887)
- m(6)A modification-mediated BATF2 acts as a tumor suppressor in gastric cancer through inhibition of ERK signaling. (PMID:32650804)
- BATF2 expression as a novel marker for invasive phenotype in malignant melanoma. (PMID:32696470)
- BATF2 prevents glioblastoma multiforme progression by inhibiting recruitment of myeloid-derived suppressor cells. (PMID:33452462)
- BATF2 balances the T cell-mediated immune response of CADM with an anti-MDA5 autoantibody. (PMID:33740622)
- Expression and clinical implications of basic leucine zipper ATF-like transcription factor 2 in breast cancer. (PMID:34565331)
- SARI inhibits growth and reduces survival of oral squamous cell carcinomas (OSCC) by inducing endoplasmic reticulum stress. (PMID:34774620)
- m6A modification-mediated BATF2 suppresses metastasis and angiogenesis of tongue squamous cell carcinoma through inhibiting VEGFA. (PMID:35949109)
- Loss of the Immunomodulatory Transcription Factor BATF2 in Humans Is Associated with a Neurological Phenotype. (PMID:36672163)
- Nuclear export of BATF2 enhances colorectal cancer proliferation through binding to CRM1. (PMID:37151195)
- BATF2 inhibits PD-L1 expression and regulates CD8+ T-cell infiltration in non-small cell lung cancer. (PMID:37777155)
- Exosomal miR-361-3p promotes the viability of breast cancer cells by targeting ETV7 and BATF2 to upregulate the PAI-1/ERK pathway. (PMID:38282047)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | fosaa | ENSDARG00000040135 |
| danio_rerio | si:ch211-153j24.3 | ENSDARG00000068428 |
| mus_musculus | Batf2 | ENSMUSG00000039699 |
| rattus_norvegicus | Batf2 | ENSRNOG00000021018 |
| drosophila_melanogaster | Atf3 | FBGN0028550 |
Paralogs (8): FOSL2 (ENSG00000075426), BATF3 (ENSG00000123685), FOSB (ENSG00000125740), JDP2 (ENSG00000140044), BATF (ENSG00000156127), ATF3 (ENSG00000162772), FOS (ENSG00000170345), FOSL1 (ENSG00000175592)
Protein
Protein identifiers
Basic leucine zipper transcriptional factor ATF-like 2 — Q8N1L9 (reviewed: Q8N1L9)
Alternative names: Suppressor of AP-1 regulated by IFN
All UniProt accessions (3): B4DV37, E9PJ73, Q8N1L9
UniProt curated annotations — full annotation on UniProt →
Function. AP-1 family transcription factor that controls the differentiation of lineage-specific cells in the immune system. Following infection, participates in the differentiation of CD8(+) thymic conventional dendritic cells in the immune system. Acts via the formation of a heterodimer with JUN family proteins that recognizes and binds DNA sequence 5’-TGA[CG]TCA-3’ and regulates expression of target genes. Selectively suppresses CCN1 transcription and hence blocks the downstream cell proliferation signals produced by CCN1 and inhibits CCN1-induced anchorage-independent growth and invasion in several cancer types, such as breast cancer, malignant glioma and metastatic melanoma. Possibly acts by interfering with AP-1 binding to CCN1 promoter.
Subunit / interactions. Heterodimer; heterodimerizes with JUN family proteins.
Subcellular location. Nucleus.
Induction. By type I interferon. Down-regulated in most hepatocellular carcinoma tumorous tissues (at protein level).
Similarity. Belongs to the bZIP family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8N1L9-1 | 1 | yes |
| Q8N1L9-2 | 2 |
RefSeq proteins (3): NP_001287736, NP_001287737, NP_612465* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000837 | AP-1 | Family |
| IPR004827 | bZIP | Domain |
| IPR046347 | bZIP_sf | Homologous_superfamily |
Pfam: PF00170
UniProt features (11 total): region of interest 5, compositionally biased region 2, chain 1, domain 1, sequence variant 1, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8N1L9-F1 | 62.92 | 0.27 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 200 (showing top):
GOBP_MYELOID_CELL_DIFFERENTIATION, GOBP_DENDRITIC_CELL_DIFFERENTIATION, GOZGIT_ESR1_TARGETS_DN, GOBP_MYELOID_LEUKOCYTE_DIFFERENTIATION, USF_C, chr11q13, IRF7_01, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, FOSTER_TOLERANT_MACROPHAGE_UP, GOBP_MYELOID_LEUKOCYTE_ACTIVATION, GOBP_RESPONSE_TO_PROTOZOAN, IRF_Q6, NRF2_01, P53_DECAMER_Q2, ISRE_01
GO Biological Process (6): regulation of transcription by RNA polymerase II (GO:0006357), defense response to protozoan (GO:0042832), myeloid dendritic cell differentiation (GO:0043011), integrated stress response signaling (GO:0140467), regulation of DNA-templated transcription (GO:0006355), cell differentiation (GO:0030154)
GO Molecular Function (5): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700), protein binding (GO:0005515)
GO Cellular Component (3): chromatin (GO:0000785), nucleus (GO:0005634), RNA polymerase II transcription regulator complex (GO:0090575)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| regulation of DNA-templated transcription | 2 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 2 |
| transcription by RNA polymerase II | 1 |
| response to protozoan | 1 |
| defense response to other organism | 1 |
| myeloid dendritic cell activation | 1 |
| myeloid leukocyte differentiation | 1 |
| dendritic cell differentiation | 1 |
| cellular response to stress | 1 |
| intracellular signaling cassette | 1 |
| DNA-templated transcription | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| cellular developmental process | 1 |
| cis-regulatory region sequence-specific DNA binding | 1 |
| chromatin | 1 |
| DNA-binding transcription factor activity | 1 |
| regulation of transcription by RNA polymerase II | 1 |
| nucleic acid binding | 1 |
| transcription cis-regulatory region binding | 1 |
| transcription regulator activity | 1 |
| binding | 1 |
| chromosome | 1 |
| cellular anatomical structure | 1 |
| intracellular membrane-bounded organelle | 1 |
| transcription regulator complex | 1 |
| nuclear protein-containing complex | 1 |
Protein interactions and networks
STRING
1180 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| BATF2 | JUN | P05412 | 704 |
| BATF2 | IRF1 | P10914 | 621 |
| BATF2 | ATF6B | Q99941 | 597 |
| BATF2 | ANKRD22 | Q5VYY1 | 575 |
| BATF2 | ATF5 | Q9Y2D1 | 554 |
| BATF2 | DAZAP2 | Q15038 | 487 |
| BATF2 | GBP5 | Q96PP8 | 456 |
| BATF2 | ATF3 | P18847 | 447 |
| BATF2 | CP | P00450 | 433 |
| BATF2 | SCARF1 | Q14162 | 428 |
| BATF2 | ETV7 | Q9Y603 | 428 |
| BATF2 | FCGR1BP | Q92637 | 417 |
| BATF2 | ATF4 | P18848 | 413 |
| BATF2 | SEC13 | P55735 | 397 |
| BATF2 | IRF8 | Q02556 | 396 |
IntAct
63 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| JUNB | BATF2 | psi-mi:“MI:0407”(direct interaction) | 0.680 |
| JUNB | BATF2 | psi-mi:“MI:0915”(physical association) | 0.680 |
| BATF2 | JUNB | psi-mi:“MI:0915”(physical association) | 0.680 |
| JUNB | BATF2 | psi-mi:“MI:0403”(colocalization) | 0.680 |
| BATF2 | DAZAP2 | psi-mi:“MI:0915”(physical association) | 0.620 |
| DAZAP2 | BATF2 | psi-mi:“MI:0915”(physical association) | 0.620 |
| BATF2 | SPAG8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PROP1 | BATF2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| VENTX | BATF2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BATF2 | YTHDF1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HOXA1 | BATF2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT34 | BATF2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BATF2 | GPSM3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FOXH1 | BATF2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FOXI1 | BATF2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MKRN3 | BATF2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BATF2 | PPP1R16A | psi-mi:“MI:0915”(physical association) | 0.560 |
| BATF2 | DDIT3 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| BATF2 | CEBPG | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| CEBPA | BATF2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| BATF2 | JUN | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| BATF2 | ATF4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| DDIT3 | BATF2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| CEBPG | BATF2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| CEBPE | BATF2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| DBP | BATF2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| HLF | BATF2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
BioGRID (38): BATF2 (Two-hybrid), BATF2 (Two-hybrid), BATF2 (Two-hybrid), BATF2 (Two-hybrid), BATF2 (Two-hybrid), BATF2 (Two-hybrid), BATF2 (Two-hybrid), BATF2 (Two-hybrid), FOXI1 (Two-hybrid), PROP1 (Two-hybrid), MKRN3 (Two-hybrid), GPSM3 (Two-hybrid), BATF2 (Affinity Capture-RNA), BATF2 (Two-hybrid), BATF2 (Two-hybrid)
ESM2 similar proteins: A0A5F9ZHS7, A1YGK1, A2T7E6, A8MZG2, O08574, O43593, O60393, O75593, O88621, O95231, P0C1T1, P0CG20, P20428, P97609, Q04667, Q17QR5, Q2KIS6, Q2M1V0, Q2T9Q7, Q32LE6, Q497V6, Q5JUK2, Q5M844, Q5RJB0, Q5TGS1, Q61645, Q61657, Q6ZMY3, Q6ZN32, Q6ZNG2, Q7RTU1, Q8BZW2, Q8CGW9, Q8IWN7, Q8IXT2, Q8IZ20, Q8N1L9, Q8N7G0, Q8N944, Q8N9Y4
Diamond homologs: A1L2X1, D4A7E1, E1BD44, F1QW76, F7EMX9, O02761, O35284, O77628, O88479, O97930, P01100, P01101, P01102, P11939, P12841, P18847, P23050, P29176, P29596, P53450, Q16520, Q2KII1, Q56TN0, Q56TT7, Q60765, Q6DGM8, Q8HZP6, Q8N1L9, Q8WYK2, Q91496, Q9Z2Q8, B4PPK2, P79702, P97876, Q9D275, Q9NR55, Q8R1H8
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 29 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Cellular responses to stress | 5 | 9.7× | 6e-03 |
| Cellular responses to stimuli | 5 | 8.3× | 8e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| integrated stress response signaling | 7 | 182.0× | 8e-13 |
| liver development | 5 | 41.1× | 1e-05 |
| regulation of cell cycle | 5 | 13.8× | 1e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
50 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 45 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
551 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:64994442:CCACA:C | donor_loss | 1.0000 |
| 11:64994443:CACAC:C | donor_loss | 1.0000 |
| 11:64994444:ACACC:A | donor_loss | 1.0000 |
| 11:64994446:A:AT | donor_loss | 1.0000 |
| 11:64994447:CC:C | donor_loss | 1.0000 |
| 11:64994548:TC:T | acceptor_gain | 1.0000 |
| 11:64994548:TCC:T | acceptor_loss | 1.0000 |
| 11:64994549:CC:C | acceptor_gain | 1.0000 |
| 11:64994549:CCTG:C | acceptor_loss | 1.0000 |
| 11:64994550:C:CC | acceptor_gain | 1.0000 |
| 11:64994550:C:CG | acceptor_loss | 1.0000 |
| 11:64994551:T:C | acceptor_loss | 1.0000 |
| 11:64989808:TGCTG:T | acceptor_gain | 0.9900 |
| 11:64989810:CTG:C | acceptor_gain | 0.9900 |
| 11:64989811:TG:T | acceptor_gain | 0.9900 |
| 11:64989813:C:CC | acceptor_gain | 0.9900 |
| 11:64993471:A:AC | donor_gain | 0.9900 |
| 11:64993472:C:CC | donor_gain | 0.9900 |
| 11:64994464:G:A | donor_gain | 0.9900 |
| 11:64994545:GGGTC:G | acceptor_gain | 0.9900 |
| 11:64994546:GGTC:G | acceptor_gain | 0.9900 |
| 11:64994547:GTC:G | acceptor_gain | 0.9900 |
| 11:64996874:A:AC | donor_gain | 0.9900 |
| 11:64996875:C:CA | donor_gain | 0.9900 |
| 11:64996875:CT:C | donor_gain | 0.9900 |
| 11:64996875:CTGT:C | donor_gain | 0.9900 |
| 11:64989812:GC:G | acceptor_loss | 0.9800 |
| 11:64989814:T:C | acceptor_loss | 0.9800 |
| 11:64993546:C:CC | acceptor_gain | 0.9800 |
| 11:64996868:GTACT:G | donor_loss | 0.9800 |
AlphaMissense
1744 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 11:64994453:G:C | H46D | 0.992 |
| 11:64994465:C:G | A42P | 0.989 |
| 11:64989778:A:G | L59P | 0.987 |
| 11:64989757:A:G | L66P | 0.986 |
| 11:64994497:G:T | A31D | 0.985 |
| 11:64994455:A:G | L45P | 0.984 |
| 11:64994491:C:G | R33P | 0.984 |
| 11:64994485:C:G | R35P | 0.982 |
| 11:64989766:A:G | I63T | 0.981 |
| 11:64994487:G:C | S34R | 0.981 |
| 11:64994487:G:T | S34R | 0.981 |
| 11:64994489:T:G | S34R | 0.981 |
| 11:64994506:C:G | R28P | 0.981 |
| 11:64994486:G:C | R35G | 0.980 |
| 11:64989737:A:G | W73R | 0.979 |
| 11:64989737:A:T | W73R | 0.979 |
| 11:64989799:A:G | L52P | 0.979 |
| 11:64989745:A:G | L70P | 0.978 |
| 11:64994501:C:G | A30P | 0.978 |
| 11:64994466:C:A | K41N | 0.977 |
| 11:64994466:C:G | K41N | 0.977 |
| 11:64994453:G:T | H46N | 0.976 |
| 11:64994498:C:G | A31P | 0.976 |
| 11:64989775:C:G | R60P | 0.975 |
| 11:64994451:G:C | H46Q | 0.972 |
| 11:64994451:G:T | H46Q | 0.972 |
| 11:64994520:C:A | K23N | 0.971 |
| 11:64994520:C:G | K23N | 0.971 |
| 11:64989724:A:G | L77P | 0.967 |
| 11:64994510:T:C | N27D | 0.967 |
dbSNP variants (sampled 300 via entrez): RS1000238066 (11:64992338 A>G), RS1001075892 (11:64992096 A>G), RS1001486181 (11:64991807 G>A), RS1002077475 (11:64992778 C>T), RS1002476335 (11:64992821 A>T), RS1002511709 (11:64992415 C>A), RS1002534280 (11:64987994 T>C,G), RS1003139308 (11:64996196 G>A,T), RS1003462979 (11:64994633 C>G,T), RS1003481644 (11:64994814 A>T), RS1003497305 (11:64988967 C>T), RS1003826280 (11:64987748 G>C,T), RS1004191603 (11:64995414 A>C), RS1004222727 (11:64995034 A>C), RS1004452577 (11:64988107 G>A)
Disease associations
OMIM: gene MIM:614983 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
26 total (human), top 26 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Nickel | increases expression | 2 |
| Tretinoin | increases expression | 2 |
| fluorene-9-bisphenol | decreases expression | 1 |
| dicrotophos | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| propionaldehyde | increases expression | 1 |
| pirinixic acid | increases expression, affects binding, increases activity | 1 |
| beta-lapachone | increases expression | 1 |
| butyraldehyde | increases expression | 1 |
| ferrous chloride | decreases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression | 1 |
| pentanal | increases expression | 1 |
| abrine | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Aldehydes | increases expression | 1 |
| Camptothecin | increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Lipopolysaccharides | increases expression, affects response to substance | 1 |
| Silicon Dioxide | increases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Valproic Acid | decreases expression, increases methylation | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Antirheumatic Agents | decreases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
| S-Nitrosoglutathione | increases expression | 1 |
| Particulate Matter | increases expression | 1 |
Cellosaurus cell lines
5 cell lines: 4 cancer cell line, 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B1EN | Abcam A-549 BATF2 KO 1 | Cancer cell line | Male |
| CVCL_B2M7 | Abcam A-549 BATF2 KO 2 | Cancer cell line | Male |
| CVCL_D7G6 | Ubigene HEK293T BATF2 KO | Transformed cell line | Female |
| CVCL_E1RS | HAP1 BATF2 (-) 1 | Cancer cell line | Male |
| CVCL_E1RT | HAP1 BATF2 (-) 2 | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.