SLFN12
gene geneOn this page
Also known as FLJ10260
Summary
SLFN12 (schlafen family member 12, HGNC:25500) is a protein-coding gene on chromosome 17q12, encoding Ribonuclease SLFN12 (Q8IYM2). Ribonuclease which is part of an E2/17beta-estradiol-induced pro-apoptotic signaling pathway.
Enables RNA nuclease activity and ribosome binding activity. Involved in apoptotic signaling pathway and rRNA catabolic process. Part of cytosol and nucleus.
Source: NCBI Gene 55106 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 91 total — 1 pathogenic
- Druggable target: yes
- MANE Select transcript:
NM_018042
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25500 |
| Approved symbol | SLFN12 |
| Name | schlafen family member 12 |
| Location | 17q12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ10260 |
| Ensembl gene | ENSG00000172123 |
| Ensembl biotype | protein_coding |
| OMIM | 614955 |
| Entrez | 55106 |
Gene structure
Transcript identifiers
Ensembl transcripts: 17 — 12 protein_coding, 3 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000304905, ENST00000394562, ENST00000428476, ENST00000445092, ENST00000447040, ENST00000452764, ENST00000460530, ENST00000479326, ENST00000714244, ENST00000714253, ENST00000714254, ENST00000714255, ENST00000714256, ENST00000714257, ENST00000934488, ENST00000934489, ENST00000961656
RefSeq mRNA: 2 — MANE Select: NM_018042
NM_001289009, NM_018042
CCDS: CCDS11295
Canonical transcript exons
ENST00000304905 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001518831 | 35432188 | 35432500 |
| ENSE00001775159 | 35421990 | 35423068 |
| ENSE00004023352 | 35410922 | 35411927 |
| ENSE00004023359 | 35420274 | 35420381 |
Expression profiles
Bgee: expression breadth ubiquitous, 195 present calls, max score 90.61.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.3393 / max 88.6392, expressed in 1363 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 165368 | 2.9814 | 1153 |
| 165365 | 1.3525 | 780 |
| 165363 | 0.2743 | 124 |
| 165367 | 0.2178 | 81 |
| 165364 | 0.1801 | 66 |
| 165362 | 0.1194 | 57 |
| 165369 | 0.1087 | 32 |
| 165366 | 0.1050 | 28 |
Top tissues by expression
283 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| monocyte | CL:0000576 | 90.61 | gold quality |
| mononuclear cell | CL:0000842 | 90.41 | gold quality |
| leukocyte | CL:0000738 | 89.62 | gold quality |
| calcaneal tendon | UBERON:0003701 | 84.33 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 83.11 | gold quality |
| granulocyte | CL:0000094 | 81.91 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 81.21 | gold quality |
| stromal cell of endometrium | CL:0002255 | 80.83 | gold quality |
| right adrenal gland | UBERON:0001233 | 80.48 | gold quality |
| gall bladder | UBERON:0002110 | 80.24 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 79.53 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 78.54 | gold quality |
| left adrenal gland | UBERON:0001234 | 78.36 | gold quality |
| spleen | UBERON:0002106 | 78.06 | gold quality |
| thoracic aorta | UBERON:0001515 | 77.74 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 77.50 | gold quality |
| omental fat pad | UBERON:0010414 | 77.49 | gold quality |
| ascending aorta | UBERON:0001496 | 77.48 | gold quality |
| peritoneum | UBERON:0002358 | 77.40 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 77.02 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 76.68 | gold quality |
| adrenal gland | UBERON:0002369 | 76.58 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 76.55 | gold quality |
| left coronary artery | UBERON:0001626 | 76.42 | gold quality |
| right lung | UBERON:0002167 | 76.31 | gold quality |
| tibial nerve | UBERON:0001323 | 76.24 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 76.23 | gold quality |
| left uterine tube | UBERON:0001303 | 76.13 | gold quality |
| upper lobe of lung | UBERON:0008948 | 76.05 | gold quality |
| mucosa of stomach | UBERON:0001199 | 75.98 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 3.95 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
39 targeting SLFN12, 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-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-4682 | 100.00 | 68.89 | 1258 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-23A-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23B-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23C | 99.95 | 73.92 | 3192 |
| HSA-MIR-7-1-3P | 99.91 | 71.53 | 4384 |
| HSA-MIR-7-2-3P | 99.91 | 71.40 | 4394 |
| HSA-MIR-3671 | 99.90 | 73.04 | 3897 |
| HSA-MIR-548AZ-5P | 99.83 | 69.94 | 3230 |
| HSA-MIR-548T-5P | 99.83 | 69.91 | 3220 |
| HSA-MIR-3156-3P | 99.76 | 66.72 | 939 |
| HSA-MIR-498-5P | 99.76 | 69.64 | 1807 |
| HSA-MIR-1208 | 99.70 | 68.28 | 1533 |
| HSA-MIR-518A-5P | 99.70 | 69.01 | 2209 |
| HSA-MIR-527 | 99.70 | 69.01 | 2209 |
| HSA-MIR-4804-3P | 99.65 | 67.78 | 866 |
| HSA-MIR-1303 | 99.65 | 69.77 | 1662 |
| HSA-MIR-12123 | 99.52 | 71.79 | 2990 |
| HSA-MIR-3123 | 99.47 | 67.15 | 2693 |
| HSA-MIR-1324 | 99.46 | 66.57 | 1302 |
| HSA-MIR-4797-5P | 99.39 | 68.01 | 1354 |
| HSA-MIR-4318 | 99.38 | 66.94 | 1505 |
| HSA-MIR-6507-5P | 99.36 | 70.46 | 2524 |
| HSA-MIR-499A-3P | 99.18 | 69.20 | 1392 |
| HSA-MIR-499B-3P | 99.18 | 69.27 | 1391 |
| HSA-MIR-4699-5P | 98.99 | 67.50 | 1210 |
Literature-anchored findings (GeneRIF, showing 9)
- Ad-SLFN12 overexpression increased the ratio of the mature E-cadherin protein to its precursor protein (PMID:24768141)
- Vulnerability to antineoplastic phosphodiesterase inhibitors inhibitors has been associated with co-expression of PDE3A and SLFN12 in various tumor types. (PMID:29107068)
- SLFN12 regulates human enterocytic differentiation by a pathway involving SERPB12, the deubiquitylases, and Cdx2. (PMID:30045019)
- Schlafen 12 (SLFN12) is a cytosolic protein that stimulates sucrase-isomaltase (SI) expression. (PMID:30875077)
- HSLFN12’s partner hSerpinB12 may contribute to heterochromatin formation. (PMID:31026779)
- The SLFN12 protein and an apoptosis activation marker were co-localized in syncytiotrophoblast of human placentas, where levels of estrogen-related hormones are high, and dynamic cell turnover by apoptosis is critical for successful implantation and placenta development. (PMID:31420216)
- SLFN12 overexpression reduced MDA-MB-231 mammosphere formation. SLFN12 overexpression decreased ZEB1 and Slug protein despite increased ZEB1 and Slug mRNA . SLFN12 knockdown increased ZEB1 protein. Co-expressing ZEB1 attenuated the SLFN12 effect on E-cadherin mRNA and proliferation. (PMID:31838790)
- Structure of PDE3A-SLFN12 complex reveals requirements for activation of SLFN12 RNase. (PMID:34272366)
- Schlafen 12 restricts HIV-1 latency reversal by a codon-usage dependent post-transcriptional block in CD4+ T cells. (PMID:37165099)
Cross-species orthologs
7 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Slfn4 | ENSMUSG00000000204 |
| mus_musculus | Slfn3 | ENSMUSG00000018986 |
| mus_musculus | Slfn2 | ENSMUSG00000072620 |
| mus_musculus | Slfn1 | ENSMUSG00000078763 |
| rattus_norvegicus | Slfn2 | ENSRNOG00000037113 |
| rattus_norvegicus | Slfn1 | ENSRNOG00000048053 |
| rattus_norvegicus | Slfn4l1 | ENSRNOG00000062983 |
Paralogs (6): SLFN13 (ENSG00000154760), SLFN5 (ENSG00000166750), SLFNL1 (ENSG00000171790), SLFN11 (ENSG00000172716), SLFN12L (ENSG00000205045), SLFN14 (ENSG00000236320)
Protein
Protein identifiers
Ribonuclease SLFN12 — Q8IYM2 (reviewed: Q8IYM2)
Alternative names: Schlafen family member 12
All UniProt accessions (7): Q8IYM2, A0AAQ5BHP3, A0AAQ5BHR9, A0AAQ5BHT2, A0AAQ5BHT4, C9J4K7, C9JIA1
UniProt curated annotations — full annotation on UniProt →
Function. Ribonuclease which is part of an E2/17beta-estradiol-induced pro-apoptotic signaling pathway. E2 stabilizes the PDE3A/SLFN12 complex in the cytosol, promoting the dephosphorylation of SLFN12 and activating its pro-apoptotic ribosomal RNA/rRNA ribonuclease activity. This apoptotic pathway might be relevant in tissues with high concentration of E2 and be for instance involved in placenta remodeling. May play a role in cell differentiation.
Subunit / interactions. Homodimer. Interacts with PDE3A; direct low affinity interaction which is stimulated by binding of 17beta-estradiol/E2 to PDE3A and that positively regulates the ribonuclease activity of SLFN12. Interacts with SERPINB12; as part of a pathway regulating cell differentiation.
Subcellular location. Nucleus. Cytoplasm. Cytosol.
Post-translational modifications. Phosphorylation at Ser-368 and Ser-573 negatively regulates the ribonuclease activity. Dephosphorylation is induced by the interaction with PDE3A and stimulates the rRNA ribonuclease activity.
Similarity. Belongs to the Schlafen family. Subgroup II subfamily.
RefSeq proteins (2): NP_001275938, NP_060512* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR007421 | Schlafen_AlbA_2_dom | Domain |
| IPR029684 | Schlafen | Family |
| IPR031450 | Poxin-SLFN/SLFN_N | Domain |
| IPR038461 | Schlafen_AlbA_2_dom_sf | Homologous_superfamily |
| IPR048729 | SLFN_GTPase-like | Domain |
Pfam: PF04326, PF17057, PF21026
UniProt features (64 total): strand 27, helix 19, mutagenesis site 8, sequence variant 3, modified residue 2, turn 2, chain 1, region of interest 1, sequence conflict 1
Structure
Experimental structures (PDB)
6 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7LRE | ELECTRON MICROSCOPY | 2.76 |
| 7LRC | ELECTRON MICROSCOPY | 2.97 |
| 7EG1 | ELECTRON MICROSCOPY | 3.2 |
| 7EG4 | ELECTRON MICROSCOPY | 3.2 |
| 7LRD | ELECTRON MICROSCOPY | 3.22 |
| 7EG0 | ELECTRON MICROSCOPY | 3.4 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8IYM2-F1 | 82.65 | 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): 368, 573
Mutagenesis-validated functional residues (8):
| Position | Phenotype |
|---|---|
| 233 | loss of interaction with serpinb2. |
| 368 | increased ribonuclease activity; when associated with a-573. |
| 368 | decreased ribonuclease activity; when associated with e-573. |
| 573 | increased ribonuclease activity; when associated with a-368. |
| 573 | decreased ribonuclease activity; when associated with e-368. |
| 200 | decreased ribosomal rna ribonuclease activity. |
| 205 | decreased ribosomal rna ribonuclease activity. |
| 213 | loss of function in the e2-induced apoptotic signaling pathway. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 225 (showing top):
GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_UP, GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_UP, GOMF_RNA_NUCLEASE_ACTIVITY, WALLACE_PROSTATE_CANCER_RACE_UP, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, GOMF_NUCLEASE_ACTIVITY, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GRAESSMANN_RESPONSE_TO_MC_AND_SERUM_DEPRIVATION_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, IVANOVA_HEMATOPOIESIS_MATURE_CELL, GERY_CEBP_TARGETS, FOSTER_TOLERANT_MACROPHAGE_DN, GOBP_APOPTOTIC_SIGNALING_PATHWAY
GO Biological Process (2): rRNA catabolic process (GO:0016075), apoptotic signaling pathway (GO:0097190)
GO Molecular Function (4): RNA nuclease activity (GO:0004540), hydrolase activity (GO:0016787), ribosome binding (GO:0043022), protein binding (GO:0005515)
GO Cellular Component (3): nucleus (GO:0005634), cytosol (GO:0005829), cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| RNA catabolic process | 1 |
| rRNA metabolic process | 1 |
| apoptotic process | 1 |
| signal transduction | 1 |
| nuclease activity | 1 |
| catalytic activity, acting on RNA | 1 |
| catalytic activity | 1 |
| ribonucleoprotein complex binding | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| cytoplasm | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
342 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SLFN12 | PDE3A | Q14432 | 745 |
| SLFN12 | SERPINB12 | Q96P63 | 506 |
| SLFN12 | SOWAHC | Q53LP3 | 485 |
| SLFN12 | ZNF471 | Q9BX82 | 458 |
| SLFN12 | ZNF667 | Q5HYK9 | 447 |
| SLFN12 | SLC19A1 | P41440 | 408 |
| SLFN12 | LIPG | Q9Y5X9 | 400 |
| SLFN12 | CTSF | Q9UBX1 | 398 |
| SLFN12 | PFKP | Q01813 | 396 |
| SLFN12 | PERP | Q96FX8 | 396 |
| SLFN12 | ACSL5 | Q9ULC5 | 395 |
| SLFN12 | PDE3B | Q13370 | 391 |
| SLFN12 | AKR1B1 | P15121 | 386 |
| SLFN12 | CXCL5 | P42830 | 380 |
| SLFN12 | GJA1 | P17302 | 374 |
IntAct
58 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PDLIM7 | BAG3 | psi-mi:“MI:0914”(association) | 0.800 |
| CAMKV | AP3B1 | psi-mi:“MI:0914”(association) | 0.640 |
| SDC2 | PDPK1 | psi-mi:“MI:0914”(association) | 0.640 |
| AGT | SLFN12 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CCK | SLFN12 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KLKB1 | SLFN12 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LAMP2 | SLFN12 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LMNA | SLFN12 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLFN12 | LPL | psi-mi:“MI:0915”(physical association) | 0.560 |
| RAN | SLFN12 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TSC1 | SLFN12 | psi-mi:“MI:0915”(physical association) | 0.560 |
| VHL | SLFN12 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLFN12 | YARS1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SPTLC1 | SLFN12 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PACSIN1 | SLFN12 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PRPF40A | SLFN12 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLFN12 | SPRED1 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (8): SLFN12 (Affinity Capture-MS), SLFN12 (Affinity Capture-RNA), SLFN12 (Two-hybrid), SLFN12 (Two-hybrid), SLFN12 (Affinity Capture-MS), SLFN12 (Affinity Capture-MS), JMJD6 (Two-hybrid), SUV39H1 (Two-hybrid)
ESM2 similar proteins: A0A140LIF8, A0JN92, A1Z198, A6H603, B1ARD6, B1ARD8, D9I2F9, D9I2G1, D9I2G3, D9I2G4, D9I2H0, E1BPN0, G1SRW8, O02799, P0C7P3, P52630, Q08AF3, Q0GKD5, Q0P3U3, Q149M9, Q1LXZ7, Q1LZ50, Q2LKU9, Q2LKV5, Q2LKW6, Q32KW9, Q5I0J8, Q5NCI0, Q5RCZ8, Q5RFJ8, Q5SY16, Q5U311, Q60766, Q63035, Q68D06, Q6AYC2, Q6AYF9, Q6IEE8, Q6NXR0, Q7Z7L1
Diamond homologs: A0A7H0DNF0, B1ARD6, P20999, P21000, Q01225, Q01226, Q08AF3, Q5RCZ8, Q68D06, Q6IEE8, Q6J362, Q8CBA2, Q8IYM2, Q8QMP8, Q8V4S4, Q9Z0I6, Q9Z0I7, V9GXG1, B1ARD8, G1SRW8, P0C7P3, Q5U311, Q7Z7L1
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 34 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 |
|---|---|---|---|
| Extracellular matrix organization | 5 | 11.3× | 6e-04 |
| Hemostasis | 5 | 6.4× | 5e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
91 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 77 |
| Likely benign | 10 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 3063495 | GRCh37/hg19 17q12(chr17:33316754-33890206)x1 | Pathogenic |
SpliceAI
801 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:35413235:A:AC | donor_gain | 1.0000 |
| 17:35413236:C:CC | donor_gain | 1.0000 |
| 17:35420382:C:CC | acceptor_gain | 1.0000 |
| 17:35420383:T:C | acceptor_gain | 1.0000 |
| 17:35420383:T:TC | acceptor_gain | 1.0000 |
| 17:35421963:T:A | donor_gain | 1.0000 |
| 17:35421988:A:C | donor_gain | 1.0000 |
| 17:35422026:T:TA | donor_gain | 1.0000 |
| 17:35413255:AT:A | donor_gain | 0.9900 |
| 17:35413300:T:TA | donor_gain | 0.9900 |
| 17:35413354:CA:C | acceptor_gain | 0.9900 |
| 17:35413356:C:CC | acceptor_gain | 0.9900 |
| 17:35420379:ATT:A | acceptor_gain | 0.9900 |
| 17:35420380:TT:T | acceptor_gain | 0.9900 |
| 17:35421939:C:CA | donor_gain | 0.9900 |
| 17:35421944:C:CT | donor_gain | 0.9900 |
| 17:35422022:T:A | donor_gain | 0.9900 |
| 17:35422141:T:TA | donor_gain | 0.9900 |
| 17:35423064:CTTTT:C | acceptor_gain | 0.9900 |
| 17:35423069:C:CC | acceptor_gain | 0.9900 |
| 17:35432901:TTACC:T | donor_loss | 0.9900 |
| 17:35432902:TA:T | donor_loss | 0.9900 |
| 17:35432903:A:AC | donor_gain | 0.9900 |
| 17:35432904:C:CC | donor_gain | 0.9900 |
| 17:35432904:C:CT | donor_loss | 0.9900 |
| 17:35432904:CCAG:C | donor_gain | 0.9900 |
| 17:35411928:C:CC | acceptor_gain | 0.9800 |
| 17:35411929:T:A | acceptor_loss | 0.9800 |
| 17:35420377:AAATT:A | acceptor_gain | 0.9800 |
| 17:35420378:AATT:A | acceptor_gain | 0.9800 |
AlphaMissense
3841 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:35411793:A:G | W428R | 0.985 |
| 17:35411793:A:T | W428R | 0.985 |
| 17:35411745:C:G | A444P | 0.983 |
| 17:35422084:A:C | F315L | 0.983 |
| 17:35422084:A:T | F315L | 0.983 |
| 17:35422086:A:G | F315L | 0.983 |
| 17:35411791:C:A | W428C | 0.973 |
| 17:35411791:C:G | W428C | 0.973 |
| 17:35411641:C:A | K478N | 0.969 |
| 17:35411641:C:G | K478N | 0.969 |
| 17:35411645:A:G | L477S | 0.968 |
| 17:35411741:A:G | L445P | 0.964 |
| 17:35422342:A:C | F229L | 0.958 |
| 17:35422342:A:T | F229L | 0.958 |
| 17:35422344:A:G | F229L | 0.958 |
| 17:35422711:A:C | F106L | 0.958 |
| 17:35422711:A:T | F106L | 0.958 |
| 17:35422713:A:G | F106L | 0.958 |
| 17:35411744:G:T | A444D | 0.957 |
| 17:35422099:G:C | F310L | 0.957 |
| 17:35422099:G:T | F310L | 0.957 |
| 17:35422101:A:G | F310L | 0.957 |
| 17:35422945:C:A | R28S | 0.956 |
| 17:35422945:C:G | R28S | 0.956 |
| 17:35422020:A:G | W337R | 0.954 |
| 17:35422020:A:T | W337R | 0.954 |
| 17:35411741:A:T | L445H | 0.953 |
| 17:35411709:A:C | Y456D | 0.946 |
| 17:35411792:C:G | W428S | 0.946 |
| 17:35411738:A:G | L446P | 0.945 |
dbSNP variants (sampled 300 via entrez): RS1000028843 (17:35434724 G>A), RS1000279712 (17:35412528 A>G), RS1000622909 (17:35418953 C>T), RS1000723247 (17:35411214 C>T), RS1001098269 (17:35416648 A>G), RS1001199942 (17:35428246 T>A), RS1001259943 (17:35429364 G>A,T), RS1001307550 (17:35415445 T>C), RS1001308370 (17:35428408 T>C), RS1001443723 (17:35415701 G>A), RS1001603668 (17:35421608 C>G,T), RS1001702574 (17:35433648 C>T), RS1001709137 (17:35427428 G>T), RS1001906339 (17:35432866 A>G), RS1002162056 (17:35425583 A>G)
Disease associations
OMIM: gene MIM:614955 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (1): Non-syndromic anorectal malformation (Orphanet:557)
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: yes
ChEMBL targets (1): CHEMBL5291543 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 7.19 | Kd | 65 | nM | CHEMBL4247714 |
| 6.06 | Kd | 870 | nM | CHEMBL4247714 |
PubChem BioAssay actives
2 with measured affinity, of 4 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| (4R)-3-[4-(diethylamino)-3-nitrophenyl]-4-methyl-4,5-dihydro-1H-pyridazin-6-one | 1952696: Binding affinity to human recombinant SLFN12 expressed as Escherichia coli assessed as dissociation constant | kd | 0.0650 | uM |
CTD chemical–gene interactions
31 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression | 6 |
| trichostatin A | increases expression, affects cotreatment | 3 |
| sodium arsenite | decreases expression, increases abundance, increases expression | 2 |
| mercuric bromide | increases expression, affects cotreatment | 2 |
| Vorinostat | affects cotreatment, increases expression | 2 |
| Air Pollutants | decreases expression, increases abundance | 2 |
| Formaldehyde | decreases expression | 2 |
| Nickel | increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Tretinoin | increases expression | 2 |
| Particulate Matter | decreases expression, increases abundance | 2 |
| urushiol | decreases expression | 1 |
| methylmercuric chloride | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| mono-(2-ethylhexyl)phthalate | decreases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | decreases expression, affects cotreatment | 1 |
| perfluorooctane sulfonic acid | decreases expression | 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 |
| belinostat | increases expression | 1 |
| ICG 001 | decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| Arsenic | increases abundance, increases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Cannabidiol | decreases expression | 1 |
| Diethylhexyl Phthalate | increases expression | 1 |
| Lipopolysaccharides | affects cotreatment, decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Vanadates | decreases expression | 1 |
| Zinc | decreases expression | 1 |
ChEMBL screening assays
3 unique, capped per target: 3 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5256549 | Binding | Binding affinity to SLFN12 (unknown origin) assessed as dissociation constant | Anagrelide: A Clinically Effective cAMP Phosphodiesterase 3A Inhibitor with Molecular Glue Properties. — ACS Med Chem Lett |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D6BK | HyCyte HeLa KO-hSLFN12 | Cancer cell line | Female |
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.