BATF3
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Also known as JUNDM1SNFTJDP1
Summary
BATF3 (basic leucine zipper ATF-like transcription factor 3, HGNC:28915) is a protein-coding gene on chromosome 1q32.3, encoding Basic leucine zipper transcriptional factor ATF-like 3 (Q9NR55). AP-1 family transcription factor that controls the differentiation of CD8(+) thymic conventional dendritic cells in the immune system.
This gene encodes a member of the basic leucine zipper protein family. The encoded protein functions as a transcriptional repressor when heterodimerizing with JUN. The protein may play a role in repression of interleukin-2 and matrix metalloproteinase-1 transcription.
Source: NCBI Gene 55509 — RefSeq curated summary.
At a glance
- GWAS associations: 6
- Clinical variants (ClinVar): 14 total
- MANE Select transcript:
NM_018664
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28915 |
| Approved symbol | BATF3 |
| Name | basic leucine zipper ATF-like transcription factor 3 |
| Location | 1q32.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | JUNDM1, SNFT, JDP1 |
| Ensembl gene | ENSG00000123685 |
| Ensembl biotype | protein_coding |
| OMIM | 612470 |
| Entrez | 55509 |
Gene structure
Transcript identifiers
Ensembl transcripts: 3 — 2 protein_coding_CDS_not_defined, 1 protein_coding
ENST00000243440, ENST00000471382, ENST00000478275
RefSeq mRNA: 1 — MANE Select: NM_018664
NM_018664
CCDS: CCDS1508
Canonical transcript exons
ENST00000243440 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000792272 | 212696961 | 212697065 |
| ENSE00001162929 | 212699673 | 212699840 |
| ENSE00003532676 | 212686417 | 212686979 |
Expression profiles
Bgee: expression breadth ubiquitous, 191 present calls, max score 90.13.
FANTOM5 (CAGE): breadth broad, TPM avg 5.3161 / max 490.8869, expressed in 697 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 17419 | 1.7121 | 212 |
| 17422 | 1.1055 | 387 |
| 17420 | 1.0384 | 123 |
| 17418 | 0.7703 | 146 |
| 17421 | 0.4343 | 133 |
| 17423 | 0.2371 | 98 |
| 17403 | 0.0136 | 6 |
| 17404 | 0.0046 | 2 |
Top tissues by expression
270 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 90.13 | gold quality |
| spleen | UBERON:0002106 | 84.49 | gold quality |
| nucleus accumbens | UBERON:0001882 | 83.66 | gold quality |
| monocyte | CL:0000576 | 82.62 | gold quality |
| granulocyte | CL:0000094 | 82.46 | gold quality |
| putamen | UBERON:0001874 | 82.19 | gold quality |
| mononuclear cell | CL:0000842 | 82.16 | gold quality |
| caudate nucleus | UBERON:0001873 | 82.13 | gold quality |
| leukocyte | CL:0000738 | 82.01 | gold quality |
| omental fat pad | UBERON:0010414 | 80.82 | gold quality |
| peritoneum | UBERON:0002358 | 80.77 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 80.21 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 80.00 | gold quality |
| cingulate cortex | UBERON:0003027 | 79.90 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 79.89 | gold quality |
| prefrontal cortex | UBERON:0000451 | 78.90 | gold quality |
| right coronary artery | UBERON:0001625 | 78.90 | gold quality |
| right frontal lobe | UBERON:0002810 | 78.83 | gold quality |
| lymph node | UBERON:0000029 | 78.09 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 77.82 | gold quality |
| upper lobe of lung | UBERON:0008948 | 77.69 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 77.52 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 77.44 | gold quality |
| left coronary artery | UBERON:0001626 | 77.34 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 77.31 | gold quality |
| coronary artery | UBERON:0001621 | 76.94 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 76.88 | gold quality |
| telencephalon | UBERON:0001893 | 76.74 | gold quality |
| type B pancreatic cell | CL:0000169 | 76.59 | gold quality |
| frontal cortex | UBERON:0001870 | 76.52 | gold quality |
Single-cell (SCXA)
Detected in 7 experiment(s), a significant marker in 7.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-32 | yes | 242.81 |
| E-HCAD-1 | yes | 20.73 |
| E-MTAB-6701 | yes | 20.58 |
| E-CURD-88 | yes | 8.63 |
| E-MTAB-10042 | yes | 7.97 |
| E-MTAB-6678 | yes | 7.13 |
| E-ANND-3 | yes | 4.57 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
4 targets.
| Target | Regulation |
|---|---|
| CD8A | |
| IL2 | Repression |
| MMP1 | Repression |
| TPM1 |
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA0835.2 | BATF3 | B-ATF-related factors |
| MA0835.3 | BATF3 | B-ATF-related factors |
JASPAR matrix evidence (PMIDs): PMID:29588546
Upstream regulators (CollecTRI, top): FOS, JUN
miRNA regulators (miRDB)
39 targeting BATF3, 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-518D-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-518E-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-518F-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-519A-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-519B-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-519C-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-520C-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-522-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-523-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-526A-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-520G-5P | 99.99 | 66.76 | 658 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-22-3P | 99.93 | 68.13 | 917 |
| HSA-MIR-6124 | 99.87 | 69.78 | 3551 |
| HSA-MIR-4306 | 99.72 | 70.50 | 3630 |
| HSA-MIR-4516 | 99.61 | 67.78 | 3390 |
| HSA-MIR-4677-3P | 99.49 | 67.91 | 1246 |
| HSA-MIR-7849-3P | 99.47 | 68.17 | 1224 |
| HSA-MIR-4777-5P | 99.33 | 67.53 | 1148 |
| HSA-MIR-6731-5P | 99.28 | 67.42 | 2375 |
| HSA-MIR-8085 | 99.28 | 67.56 | 2362 |
| HSA-MIR-3125 | 99.14 | 68.49 | 2269 |
| HSA-MIR-6749-3P | 99.00 | 65.73 | 1443 |
| HSA-MIR-6859-5P | 98.99 | 68.07 | 2049 |
| HSA-MIR-3916 | 98.99 | 68.04 | 2155 |
| HSA-MIR-3154 | 98.94 | 66.55 | 1455 |
| HSA-MIR-3194-3P | 98.83 | 66.22 | 1167 |
| HSA-MIR-760 | 98.81 | 66.65 | 1392 |
| HSA-MIR-4297 | 98.77 | 66.95 | 2013 |
Literature-anchored findings (GeneRIF, showing 13)
- correlation of transcriptional repression by p21(SNFT) with changes in DNA.NF-AT complex interactions (PMID:12087103)
- overexpression of p21SNFT in HepG2 cells leads to repression of matrix metalloproteinase-1 by 70-80% (PMID:15467742)
- Batf3-dependent dendritic cells elicit the rejection of cells and grafts expressing mismatched minor histocompatibility antigens. (PMID:26034174)
- The authors identified highly significant associations with better melanoma overall survival for rs6673928, impacting IL19 expression (HR, 0.56; 95% CI, 0.41-0.77; P = 0.0002) and rs6695772, controlling the expression of BATF3 (HR, 1.64; 95% CI, 1.19-2.24; P = 0.0019). (PMID:26733611)
- Basic Leucine Zipper ATF-Like Transcription Factor 3 (BATF3), an AP-1 family transcription factor, is a glucocorticoid receptor coregulator whose interaction with glucocorticoid receptor is modulated by the lever arm. (PMID:28708849)
- Circular RNA circ_0034642/miR-1205/BATF3 pathway may play an important role in glioma. (PMID:30551880)
- Upregulation of circular RNA circ_0034642 indicates unfavorable prognosis in glioma and facilitates cell proliferation and invasion via the miR-1205/BATF3 axis. (PMID:30938850)
- These findings identify the importance of tumor cell oncogene activity in modulating the Batf3-dependent dendritic cell lineage. (PMID:31000683)
- BATF3 promotes malignant phenotype of colorectal cancer through the S1PR1/p-STAT3/miR-155-3p/WDR82 axis. (PMID:33057139)
- Long noncoding RNA LINC01638 contributes to laryngeal squamous cell cancer progression by modulating miR-523-5p/BATF3 axis. (PMID:33714208)
- Super-enhancer-based identification of a BATF3/IL-2R-module reveals vulnerabilities in anaplastic large cell lymphoma. (PMID:34552066)
- The bZIP transcription factor BATF3/ZIP-10 suppresses innate immunity by attenuating PMK-1/p38 signaling. (PMID:36409527)
- siRNA-mediated downregulation of BATF3 diminished proliferation and induced apoptosis through downregulating c-Myc expression in chronic myelogenous leukemia cells. (PMID:38217769)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | batf3 | ENSDARG00000042577 |
| mus_musculus | Batf3 | ENSMUSG00000026630 |
| rattus_norvegicus | Batf3 | ENSRNOG00000003716 |
| drosophila_melanogaster | Atf3 | FBGN0028550 |
Paralogs (8): FOSL2 (ENSG00000075426), FOSB (ENSG00000125740), JDP2 (ENSG00000140044), BATF (ENSG00000156127), ATF3 (ENSG00000162772), BATF2 (ENSG00000168062), FOS (ENSG00000170345), FOSL1 (ENSG00000175592)
Protein
Protein identifiers
Basic leucine zipper transcriptional factor ATF-like 3 — Q9NR55 (reviewed: Q9NR55)
Alternative names: 21 kDa small nuclear factor isolated from T-cells, Jun dimerization protein p21SNFT
All UniProt accessions (1): Q9NR55
UniProt curated annotations — full annotation on UniProt →
Function. AP-1 family transcription factor that controls the differentiation of CD8(+) thymic conventional dendritic cells in the immune system. Required for development of CD8-alpha(+) classical dendritic cells (cDCs) and related CD103(+) dendritic cells that cross-present antigens to CD8 T-cells and produce interleukin-12 (IL12) in response to pathogens. 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.
Subunit / interactions. Heterodimer; heterodimerizes with JUN family proteins. Interacts with JUN.
Subcellular location. Nucleus.
Similarity. Belongs to the bZIP family.
RefSeq proteins (1): NP_061134* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000837 | AP-1 | Family |
| IPR004827 | bZIP | Domain |
| IPR046347 | bZIP_sf | Homologous_superfamily |
Pfam: PF00170
UniProt features (9 total): region of interest 3, modified residue 2, chain 1, domain 1, compositionally biased region 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NR55-F1 | 83.05 | 0.56 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (2): 2, 31
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 232 (showing top):
GOBP_MYELOID_CELL_DIFFERENTIATION, GOBP_DENDRITIC_CELL_DIFFERENTIATION, BENPORATH_ES_WITH_H3K27ME3, DARWICHE_SKIN_TUMOR_PROMOTER_UP, DARWICHE_PAPILLOMA_RISK_LOW_DN, DARWICHE_PAPILLOMA_RISK_HIGH_UP, RACCACAR_AML_Q6, DARWICHE_SQUAMOUS_CELL_CARCINOMA_DN, GOBP_MYELOID_LEUKOCYTE_DIFFERENTIATION, USF_C, GOLDRATH_ANTIGEN_RESPONSE, ZHAN_MULTIPLE_MYELOMA_CD1_UP, RUTELLA_RESPONSE_TO_CSF2RB_AND_IL4_UP, GOBP_MYELOID_LEUKOCYTE_ACTIVATION, AML_Q6
GO Biological Process (7): negative regulation of transcription by RNA polymerase II (GO:0000122), regulation of transcription by RNA polymerase II (GO:0006357), response to virus (GO:0009615), myeloid dendritic cell differentiation (GO:0043011), dendritic cell differentiation (GO:0097028), integrated stress response signaling (GO:0140467), regulation of DNA-templated transcription (GO:0006355)
GO Molecular Function (7): 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 transcription repressor activity, RNA polymerase II-specific (GO:0001227), DNA-binding transcription factor activity (GO:0003700), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), protein binding (GO:0005515)
GO Cellular Component (6): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), nucleolus (GO:0005730), cytosol (GO:0005829), RNA polymerase II transcription regulator complex (GO:0090575)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 3 |
| cellular anatomical structure | 3 |
| regulation of transcription by RNA polymerase II | 2 |
| transcription by RNA polymerase II | 2 |
| regulation of DNA-templated transcription | 2 |
| nuclear lumen | 2 |
| negative regulation of DNA-templated transcription | 1 |
| response to other organism | 1 |
| myeloid dendritic cell activation | 1 |
| myeloid leukocyte differentiation | 1 |
| dendritic cell differentiation | 1 |
| mononuclear 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 |
| cis-regulatory region sequence-specific DNA binding | 1 |
| chromatin | 1 |
| DNA-binding transcription factor activity | 1 |
| negative regulation of transcription by RNA polymerase II | 1 |
| DNA-binding transcription factor activity, RNA polymerase II-specific | 1 |
| DNA-binding transcription repressor activity | 1 |
| transcription cis-regulatory region binding | 1 |
| transcription regulator activity | 1 |
| double-stranded DNA binding | 1 |
| sequence-specific DNA binding | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| chromosome | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular membraneless organelle | 1 |
| cytoplasm | 1 |
| transcription regulator complex | 1 |
| nuclear protein-containing complex | 1 |
Protein interactions and networks
STRING
1740 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| BATF3 | MPPE1 | Q53F39 | 865 |
| BATF3 | JUN | P05412 | 854 |
| BATF3 | ITGAX | P20702 | 802 |
| BATF3 | IRF8 | Q02556 | 796 |
| BATF3 | ITGAE | P38570 | 794 |
| BATF3 | XCR1 | P46094 | 775 |
| BATF3 | IRF4 | Q15306 | 744 |
| BATF3 | CLEC9A | Q6UXN8 | 733 |
| BATF3 | ZBTB46 | Q86UZ6 | 712 |
| BATF3 | CD8A | P01732 | 693 |
| BATF3 | TLR3 | O15455 | 689 |
| BATF3 | ITGAM | P11215 | 641 |
| BATF3 | ID2 | Q02363 | 632 |
| BATF3 | THBD | P07204 | 612 |
| BATF3 | FLT3LG | P49771 | 610 |
IntAct
94 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| JUN | ATF2 | psi-mi:“MI:0914”(association) | 0.950 |
| JUNB | BATF3 | psi-mi:“MI:0407”(direct interaction) | 0.880 |
| BATF3 | JUNB | psi-mi:“MI:0407”(direct interaction) | 0.880 |
| JUNB | BATF3 | psi-mi:“MI:0915”(physical association) | 0.880 |
| JUN | BATF3 | psi-mi:“MI:0407”(direct interaction) | 0.870 |
| BATF3 | JUN | psi-mi:“MI:0407”(direct interaction) | 0.870 |
| BATF3 | DDIT3 | psi-mi:“MI:0407”(direct interaction) | 0.820 |
| DDIT3 | BATF3 | psi-mi:“MI:0915”(physical association) | 0.820 |
| DDIT3 | BATF3 | psi-mi:“MI:0407”(direct interaction) | 0.820 |
| BACH2 | BATF3 | psi-mi:“MI:0915”(physical association) | 0.810 |
| BATF3 | BACH2 | psi-mi:“MI:0407”(direct interaction) | 0.810 |
| ATF2 | BATF3 | psi-mi:“MI:0407”(direct interaction) | 0.780 |
| IFIT2 | IFIT3 | psi-mi:“MI:0914”(association) | 0.780 |
| BATF3 | ATF2 | psi-mi:“MI:0407”(direct interaction) | 0.780 |
| BATF3 | ATF3 | psi-mi:“MI:0407”(direct interaction) | 0.710 |
| ATF3 | BATF3 | psi-mi:“MI:0407”(direct interaction) | 0.710 |
| ATF3 | BATF3 | psi-mi:“MI:0915”(physical association) | 0.710 |
| JUND | BATF3 | psi-mi:“MI:0407”(direct interaction) | 0.690 |
| BATF3 | JUND | psi-mi:“MI:0407”(direct interaction) | 0.690 |
BioGRID (104): BATF3 (Two-hybrid), BATF3 (Two-hybrid), BATF3 (Two-hybrid), BATF3 (Two-hybrid), BATF3 (Affinity Capture-MS), JUNB (Affinity Capture-MS), BACH2 (Affinity Capture-MS), ATF7 (Affinity Capture-MS), LDOC1L (Affinity Capture-MS), ZNF451 (Affinity Capture-MS), JUND (Affinity Capture-MS), ATF2 (Affinity Capture-MS), BACH1 (Affinity Capture-MS), ZBTB10 (Affinity Capture-MS), JUN (Affinity Capture-MS)
ESM2 similar proteins: A1L2X1, D4A7E1, E1BD44, F1QW76, F7EMX9, G5ECU7, G5EF76, O09015, O35284, O57598, O96642, P13096, P13097, P13098, P13903, P46505, P50539, P50540, P50541, P97831, P97876, Q00P32, Q01068, Q01069, Q01070, Q01071, Q04788, Q05195, Q07291, Q09771, Q09926, Q0VFI9, Q0VH34, Q10574, Q16520, Q18711, Q21361, Q23579, Q62282, Q8AW52
Diamond homologs: A1L2X1, B4PPK2, D4A7E1, E1BD44, F1QW76, F7EMX9, O02761, O35284, O77628, O88479, O97930, P01100, P01101, P01102, P11939, P12841, P18847, P23050, P29176, P53450, P79702, P97876, Q16520, Q2KII1, Q56TN0, Q56TT7, Q8HZP6, Q8N1L9, Q91496, Q9D275, Q9NR55, Q9Z2Q8, P29596, Q60765, Q6DGM8
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 37 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 |
|---|---|---|---|
| Response of EIF2AK1 (HRI) to heme deficiency | 5 | 132.2× | 5e-08 |
| ATF4 activates genes in response to endoplasmic reticulum stress | 5 | 75.5× | 5e-07 |
| Cellular response to starvation | 5 | 30.6× | 2e-05 |
| Response of EIF2AK4 (GCN2) to amino acid deficiency | 6 | 24.6× | 6e-06 |
| Regulation of PD-L1(CD274) transcription | 5 | 20.1× | 7e-05 |
| Signaling by Interleukins | 6 | 14.3× | 6e-05 |
| Cellular responses to stress | 8 | 10.9× | 2e-05 |
| Cellular responses to stimuli | 8 | 9.3× | 3e-05 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| integrated stress response signaling | 12 | 263.3× | 3e-25 |
| liver development | 5 | 34.6× | 2e-05 |
| response to endoplasmic reticulum stress | 5 | 26.1× | 6e-05 |
| regulation of cell population proliferation | 6 | 21.6× | 2e-05 |
| regulation of cell cycle | 6 | 14.0× | 1e-04 |
| positive regulation of gene expression | 8 | 9.7× | 6e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
14 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 10 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
654 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:212686975:TATTC:T | acceptor_gain | 1.0000 |
| 1:212686976:ATTC:A | acceptor_gain | 1.0000 |
| 1:212686977:TTC:T | acceptor_gain | 1.0000 |
| 1:212686978:TC:T | acceptor_gain | 1.0000 |
| 1:212686978:TCCTG:T | acceptor_loss | 1.0000 |
| 1:212686979:CC:C | acceptor_gain | 1.0000 |
| 1:212686980:C:CC | acceptor_gain | 1.0000 |
| 1:212686980:CTGG:C | acceptor_loss | 1.0000 |
| 1:212686981:T:A | acceptor_loss | 1.0000 |
| 1:212696957:TCA:T | donor_loss | 1.0000 |
| 1:212696958:CACC:C | donor_loss | 1.0000 |
| 1:212696959:A:C | donor_loss | 1.0000 |
| 1:212696960:CCTC:C | donor_loss | 1.0000 |
| 1:212686980:C:T | acceptor_gain | 0.9900 |
| 1:212697064:CT:C | acceptor_gain | 0.9900 |
| 1:212697066:C:CC | acceptor_gain | 0.9900 |
| 1:212699667:CTCTA:C | donor_loss | 0.9900 |
| 1:212699668:TCTA:T | donor_loss | 0.9900 |
| 1:212699669:CTAC:C | donor_loss | 0.9900 |
| 1:212699670:TA:T | donor_loss | 0.9900 |
| 1:212699671:ACCT:A | donor_loss | 0.9900 |
| 1:212699672:C:CT | donor_loss | 0.9900 |
| 1:212699672:CCTG:C | donor_gain | 0.9900 |
| 1:212696960:CCT:C | donor_gain | 0.9800 |
| 1:212697062:GGCT:G | acceptor_gain | 0.9800 |
| 1:212697065:TCTGG:T | acceptor_loss | 0.9800 |
| 1:212697066:CTGG:C | acceptor_loss | 0.9800 |
| 1:212697067:T:A | acceptor_loss | 0.9800 |
| 1:212699665:C:CA | donor_gain | 0.9800 |
| 1:212699675:G:A | donor_gain | 0.9800 |
AlphaMissense
824 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:212686924:A:G | L84P | 1.000 |
| 1:212686966:A:G | L70P | 1.000 |
| 1:212696966:G:C | H64D | 1.000 |
| 1:212696968:A:G | L63P | 1.000 |
| 1:212696978:C:G | A60P | 1.000 |
| 1:212696998:C:A | R53L | 1.000 |
| 1:212696998:C:G | R53P | 1.000 |
| 1:212696998:C:T | R53Q | 1.000 |
| 1:212696999:G:A | R53W | 1.000 |
| 1:212696999:G:C | R53G | 1.000 |
| 1:212697000:A:C | S52R | 1.000 |
| 1:212697000:A:T | S52R | 1.000 |
| 1:212697002:T:G | S52R | 1.000 |
| 1:212697003:T:A | R51S | 1.000 |
| 1:212697003:T:G | R51S | 1.000 |
| 1:212697010:G:A | A49V | 1.000 |
| 1:212697010:G:T | A49D | 1.000 |
| 1:212697011:C:G | A49P | 1.000 |
| 1:212697013:G:T | A48D | 1.000 |
| 1:212697014:C:G | A48P | 1.000 |
| 1:212697019:C:G | R46P | 1.000 |
| 1:212697020:G:C | R46G | 1.000 |
| 1:212697021:G:C | N45K | 1.000 |
| 1:212697021:G:T | N45K | 1.000 |
| 1:212697022:T:C | N45S | 1.000 |
| 1:212697023:T:C | N45D | 1.000 |
| 1:212697030:T:A | R42S | 1.000 |
| 1:212697030:T:G | R42S | 1.000 |
| 1:212697033:C:A | R41S | 1.000 |
| 1:212697033:C:G | R41S | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000156045 (1:212685979 G>A), RS1000207982 (1:212686263 G>A,C), RS1000236003 (1:212689987 TACAC>T), RS1000338125 (1:212692626 T>C), RS1000494757 (1:212687344 C>G), RS1000731123 (1:212694321 G>C,T), RS1000793978 (1:212692966 C>G), RS1000822850 (1:212696089 T>C), RS1000841495 (1:212700438 G>A,T), RS1000934455 (1:212700186 G>A,C,T), RS1001399555 (1:212691519 T>C), RS1001453736 (1:212686468 G>A), RS1001744725 (1:212691005 C>T), RS1001869903 (1:212691659 C>A,T), RS1002095561 (1:212697586 C>A,T)
Disease associations
OMIM: gene MIM:612470 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
6 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002772_11 | Leprosy | 3.000000e-08 |
| GCST006202_1 | Thiopurine-induced leukopenia in inflammatory bowel disease (conditioned on rs116855232) | 1.000000e-06 |
| GCST009597_275 | Multiple sclerosis | 9.000000e-14 |
| GCST010042_107 | Asthma | 4.000000e-08 |
| GCST010043_92 | Asthma | 3.000000e-08 |
| GCST90014023_15 | Type 1 diabetes | 4.000000e-09 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
47 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression | 7 |
| (+)-JQ1 compound | decreases expression | 4 |
| Benzo(a)pyrene | decreases expression, increases expression, increases methylation | 4 |
| sodium arsenite | affects cotreatment, increases abundance, increases expression | 2 |
| Aflatoxin B1 | increases expression | 2 |
| FR900359 | increases phosphorylation | 1 |
| sotorasib | affects cotreatment, decreases expression | 1 |
| methyleugenol | increases expression | 1 |
| propionaldehyde | increases expression | 1 |
| bisphenol A | affects cotreatment, increases methylation | 1 |
| sulforaphane | increases expression | 1 |
| butyraldehyde | increases expression | 1 |
| perfluorooctanoic acid | increases expression | 1 |
| zinc chromate | increases abundance, decreases expression | 1 |
| manganese chloride | increases abundance, increases expression, affects cotreatment | 1 |
| diallyl trisulfide | increases expression | 1 |
| pentanal | increases expression | 1 |
| chromium hexavalent ion | decreases expression, increases abundance | 1 |
| entinostat | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| jinfukang | increases expression | 1 |
| trametinib | affects cotreatment, decreases expression | 1 |
| NVP-BKM120 | affects cotreatment, decreases expression | 1 |
| Temozolomide | increases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Panobinostat | affects expression, affects cotreatment | 1 |
| Acetaminophen | increases expression | 1 |
| Aldehydes | increases expression | 1 |
| Arsenic | affects cotreatment, increases abundance, increases expression | 1 |
Cellosaurus cell lines
3 cell lines: 3 embryonic stem cell
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_A0H2 | SEES3-1V human BATF3, clone1 | Embryonic stem cell | Male |
| CVCL_A0H3 | SEES3-1V human BATF3, clone2 | Embryonic stem cell | Male |
| CVCL_A0H4 | SEES3-1V human BATF3, clone3 | Embryonic stem cell | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): leprosy