BCL2L13
gene geneOn this page
Also known as MIL1BCL-RAMBO
Summary
BCL2L13 (BCL2 like 13, HGNC:17164) is a protein-coding gene on chromosome 22q11.21, encoding Bcl-2-like protein 13 (Q9BXK5). May promote the activation of caspase-3 and apoptosis.
This gene encodes a mitochondrially-localized protein with conserved B-cell lymphoma 2 homology motifs. Overexpression of the encoded protein results in apoptosis. Alternatively spliced transcript variants have been observed for this gene.
Source: NCBI Gene 23786 — RefSeq curated summary.
At a glance
- GWAS associations: 13
- Clinical variants (ClinVar): 97 total
- Druggable target: yes
- MANE Select transcript:
NM_015367
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:17164 |
| Approved symbol | BCL2L13 |
| Name | BCL2 like 13 |
| Location | 22q11.21 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MIL1, BCL-RAMBO |
| Ensembl gene | ENSG00000099968 |
| Ensembl biotype | protein_coding |
| OMIM | 619822 |
| Entrez | 23786 |
Gene structure
Transcript identifiers
Ensembl transcripts: 25 — 19 protein_coding, 4 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay
ENST00000317582, ENST00000337612, ENST00000355028, ENST00000399777, ENST00000399781, ENST00000399782, ENST00000464649, ENST00000479296, ENST00000485631, ENST00000493680, ENST00000498133, ENST00000538149, ENST00000611738, ENST00000616863, ENST00000618481, ENST00000870789, ENST00000870790, ENST00000870791, ENST00000870792, ENST00000870793, ENST00000870794, ENST00000870795, ENST00000917411, ENST00000941948, ENST00000941949
RefSeq mRNA: 11 — MANE Select: NM_015367
NM_001270726, NM_001270727, NM_001270728, NM_001270729, NM_001270730, NM_001270731, NM_001270732, NM_001270734, NM_001270735, NM_001363824, NM_015367
CCDS: CCDS13746, CCDS59447, CCDS74810, CCDS74812, CCDS74813, CCDS74814, CCDS86995
Canonical transcript exons
ENST00000317582 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001845131 | 17638757 | 17638886 |
| ENSE00003497481 | 17696141 | 17696210 |
| ENSE00003591214 | 17688986 | 17689142 |
| ENSE00003626534 | 17726677 | 17730855 |
| ENSE00003693073 | 17683214 | 17683321 |
| ENSE00003715933 | 17702243 | 17702386 |
| ENSE00003723905 | 17655662 | 17655832 |
Expression profiles
Bgee: expression breadth ubiquitous, 287 present calls, max score 97.55.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 30.3167 / max 354.0669, expressed in 1817 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 190985 | 16.6148 | 1808 |
| 190990 | 6.0487 | 1189 |
| 190987 | 3.4348 | 1462 |
| 190984 | 2.0402 | 1064 |
| 190989 | 1.1390 | 545 |
| 190986 | 0.9429 | 572 |
| 190991 | 0.0963 | 8 |
Top tissues by expression
288 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 97.55 | gold quality |
| oocyte | CL:0000023 | 96.51 | gold quality |
| gastrocnemius | UBERON:0001388 | 96.47 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 96.29 | gold quality |
| muscle of leg | UBERON:0001383 | 96.25 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 95.53 | gold quality |
| muscle organ | UBERON:0001630 | 95.45 | gold quality |
| gluteal muscle | UBERON:0002000 | 95.05 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 94.80 | gold quality |
| islet of Langerhans | UBERON:0000006 | 94.50 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 94.41 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 94.38 | gold quality |
| tibialis anterior | UBERON:0001385 | 94.25 | gold quality |
| deltoid | UBERON:0001476 | 94.09 | gold quality |
| diaphragm | UBERON:0001103 | 94.02 | gold quality |
| adrenal tissue | UBERON:0018303 | 94.02 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 93.45 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 93.27 | gold quality |
| muscle tissue | UBERON:0002385 | 93.17 | gold quality |
| adrenal gland | UBERON:0002369 | 93.10 | gold quality |
| left adrenal gland | UBERON:0001234 | 93.00 | gold quality |
| quadriceps femoris | UBERON:0001377 | 93.00 | gold quality |
| vastus lateralis | UBERON:0001379 | 92.98 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 92.96 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 92.95 | gold quality |
| right adrenal gland | UBERON:0001233 | 92.91 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 92.88 | gold quality |
| heart left ventricle | UBERON:0002084 | 92.73 | gold quality |
| biceps brachii | UBERON:0001507 | 92.68 | gold quality |
| calcaneal tendon | UBERON:0003701 | 92.67 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-7316 | yes | 35.70 |
| E-GEOD-137537 | yes | 14.42 |
| E-ANND-3 | yes | 5.50 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): FOXO1, ZIC1
miRNA regulators (miRDB)
112 targeting BCL2L13, 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-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-3667-3P | 99.99 | 67.17 | 1636 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-10401-5P | 99.99 | 65.79 | 948 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-141-3P | 99.94 | 72.79 | 2421 |
| HSA-MIR-200A-3P | 99.94 | 72.68 | 2420 |
| HSA-MIR-6835-3P | 99.93 | 70.49 | 2904 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-589-3P | 99.91 | 69.62 | 2088 |
| HSA-MIR-627-3P | 99.90 | 71.42 | 3316 |
| HSA-MIR-124-3P | 99.89 | 73.74 | 3043 |
| HSA-MIR-506-3P | 99.89 | 73.55 | 3057 |
| HSA-MIR-3919 | 99.87 | 69.45 | 2489 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-182-5P | 99.87 | 74.03 | 2589 |
| HSA-MIR-5003-3P | 99.85 | 69.29 | 2517 |
| HSA-MIR-6875-3P | 99.82 | 70.26 | 2983 |
| HSA-MIR-6842-5P | 99.80 | 67.54 | 1587 |
| HSA-MIR-7110-5P | 99.80 | 67.84 | 1712 |
| HSA-MIR-4668-5P | 99.79 | 70.58 | 3782 |
| HSA-MIR-4319 | 99.76 | 69.83 | 2586 |
| HSA-MIR-199A-3P | 99.75 | 70.48 | 929 |
| HSA-MIR-199B-3P | 99.75 | 70.48 | 929 |
Literature-anchored findings (GeneRIF, showing 14)
- Our data support the speculation that the Alu element insertion during the splicing process may play an important role in the generation of protein diversity in primate cells by a yet uncharacterized mechanism (PMID:12527362)
- SidF contributes to apoptosis resistance in L. pneumophila-infected cells by specifically interacting with and neutralizing the effects of BNIP3 and Bcl-rambo, two proapoptotic members of Bcl2 protein family. (PMID:17360363)
- investigated the expression of three apoptosis related genes, BCL2L13, CASP8AP2, and Livin, as well as their prognostic significance, in a retrospective study of 90 pediatric ALL patients diagnosed between 1996 and 2007 in Taiwan (PMID:20109966)
- Bcl-rambo is a pro-apoptotic member of the Bcl-2 family, inducing the permeability transition via interaction with the adenine nucleotide translocator (ANT). (PMID:22921587)
- Bcl2L13 binds to proapoptotic ceramide synthases 2 (CerS2) and 6 (CerS6) via a unique C-terminal 250-aa sequence located between its Bcl-2 homology and membrane anchor domains and blocks homo- and heteromeric CerS2/6 complex formation and activity. (PMID:24706805)
- This study showed that Bcl-2-like protein 13 (Bcl2-L-13) induces mitochondrial fragmentation and mitophagy in mammalian cells. (PMID:26146385)
- Ectopically expressed in Drosophila Bcl-rambo localizes to mitochondria, induces apoptosis and atrophied wing, split thorax, and rough eye phenotypes. (PMID:27348811)
- Bcl2-L-13 recruits the ULK1 complex to process mitophagy. (PMID:30625316)
- Human Bcl-rambo and Voltage-dependent anion channels cooperatively promote the activation of effector caspases in human cultured cells. (PMID:31102594)
- Long non-coding RNA SNHG15 is a competing endogenous RNA of miR-141-3p that prevents osteoarthritis progression by upregulating BCL2L13 expression. (PMID:32247266)
- Selective binding of mitophagy receptor protein Bcl-rambo to LC3/GABARAP family proteins. (PMID:32828302)
- LncRNA SNHG14 is beneficial to oxygen glucose deprivation/reoxygenation-induced neuro-2a cell injury via mir-98-5p sequestration-caused BCL2L13 upregulation. (PMID:35678981)
- The BCL-2 family protein BCL-RAMBO interacts and cooperates with GRP75 to promote its apoptosis signaling pathway. (PMID:37640805)
- The role of BCL2L13 in glioblastoma: turning a need into a target. (PMID:37988705)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | bcl2l13 | ENSDARG00000062370 |
| danio_rerio | si:ch211-214j24.14 | ENSDARG00000096037 |
| mus_musculus | Bcl2l13 | ENSMUSG00000009112 |
| rattus_norvegicus | Bcl2l13 | ENSRNOG00000012394 |
Protein
Protein identifiers
Bcl-2-like protein 13 — Q9BXK5 (reviewed: Q9BXK5)
Alternative names: Bcl-rambo, Protein Mil1
All UniProt accessions (9): Q9BXK5, A0A087WTL4, A0A087WW80, A0A087WX97, A0A0A0MR90, E9PDD6, F2Z2C3, F6VJB4, H0Y3R5
UniProt curated annotations — full annotation on UniProt →
Function. May promote the activation of caspase-3 and apoptosis.
Subunit / interactions. Monomer.
Subcellular location. Mitochondrion membrane. Nucleus Nucleus.
Tissue specificity. Ubiquitous, with the highest levels of expression in heart, placenta and pancreas.
Similarity. Belongs to the Bcl-2 family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9BXK5-1 | 2 | yes |
| Q9BXK5-2 | 1 | |
| Q9BXK5-4 | 3 |
RefSeq proteins (11): NP_001257655, NP_001257656, NP_001257657, NP_001257658, NP_001257659, NP_001257660, NP_001257661, NP_001257663, NP_001257664, NP_001350753, NP_056182* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002475 | Bcl2-like | Family |
| IPR036834 | Bcl-2-like_sf | Homologous_superfamily |
| IPR042398 | BCL2L13 | Family |
| IPR046371 | Bcl-2_BH1-3 | Domain |
Pfam: PF00452
UniProt features (34 total): modified residue 12, short sequence motif 4, repeat 4, sequence variant 4, splice variant 3, sequence conflict 2, region of interest 2, chain 1, transmembrane region 1, compositionally biased region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BXK5-F1 | 65.27 | 0.32 |
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 (12): 38, 259, 261, 303, 326, 371, 375, 410, 420, 426, 429, 444
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 256 (showing top):
GOBP_CARDIAC_CHAMBER_DEVELOPMENT, GOBP_NUCLEOSIDE_DIPHOSPHATE_METABOLIC_PROCESS, GOBP_MUSCLE_TISSUE_DEVELOPMENT, GOBP_CARDIAC_LEFT_VENTRICLE_MORPHOGENESIS, MODULE_255, GOBP_CARDIAC_CHAMBER_MORPHOGENESIS, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, GOBP_CARBOHYDRATE_DERIVATIVE_CATABOLIC_PROCESS, MODULE_317, GOBP_MONOSACCHARIDE_CATABOLIC_PROCESS, CREBP1_Q2, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, TGACCTY_ERR1_Q2, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS
GO Biological Process (7): mitophagy (GO:0000423), oxidative phosphorylation (GO:0006119), apoptotic process (GO:0006915), mitochondrion organization (GO:0007005), regulation of apoptotic process (GO:0042981), fat cell differentiation (GO:0045444), canonical glycolysis (GO:0061621)
GO Molecular Function (2): cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656), protein binding (GO:0005515)
GO Cellular Component (4): nucleus (GO:0005634), mitochondrion (GO:0005739), membrane (GO:0016020), mitochondrial membrane (GO:0031966)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| intracellular membrane-bounded organelle | 2 |
| autophagy of mitochondrion | 1 |
| macroautophagy | 1 |
| aerobic respiration | 1 |
| proton motive force-driven ATP synthesis | 1 |
| programmed cell death | 1 |
| apoptotic signaling pathway | 1 |
| execution phase of apoptosis | 1 |
| organelle organization | 1 |
| apoptotic process | 1 |
| regulation of programmed cell death | 1 |
| cell differentiation | 1 |
| glucokinase activity | 1 |
| glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity | 1 |
| glucose catabolic process | 1 |
| glycolytic process through glucose-6-phosphate | 1 |
| peptidase activator activity involved in apoptotic process | 1 |
| cysteine-type endopeptidase regulator activity involved in apoptotic process | 1 |
| binding | 1 |
| cytoplasm | 1 |
| cellular anatomical structure | 1 |
| mitochondrion | 1 |
| mitochondrial envelope | 1 |
| organelle membrane | 1 |
Protein interactions and networks
STRING
1024 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| BCL2L13 | GABARAP | O95166 | 932 |
| BCL2L13 | FUNDC1 | Q8IVP5 | 893 |
| BCL2L13 | BNIP3 | Q12983 | 822 |
| BCL2L13 | BNIP3L | O60238 | 817 |
| BCL2L13 | DNM1L | O00429 | 810 |
| BCL2L13 | FKBP8 | Q14318 | 809 |
| BCL2L13 | CD300C | Q08708 | 768 |
| BCL2L13 | CERS2 | Q96G23 | 701 |
| BCL2L13 | F5GZY7 | F5GZY7 | 693 |
| BCL2L13 | PHB2 | Q99623 | 688 |
| BCL2L13 | CALCOCO2 | Q13137 | 685 |
| BCL2L13 | OPTN | Q96CV9 | 669 |
| BCL2L13 | AMBRA1 | Q9C0C7 | 665 |
| BCL2L13 | GABARAPL2 | P60520 | 662 |
| BCL2L13 | NBR1 | Q14596 | 645 |
IntAct
241 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TMEM86B | BCL2L13 | psi-mi:“MI:0915”(physical association) | 0.720 |
| PLN | BCL2L13 | psi-mi:“MI:0915”(physical association) | 0.720 |
| PLP1 | BCL2L13 | psi-mi:“MI:0915”(physical association) | 0.720 |
| GABARAPL2 | BCL2L13 | psi-mi:“MI:0915”(physical association) | 0.670 |
| sidF | BCL2L13 | psi-mi:“MI:0915”(physical association) | 0.590 |
| sidF | BCL2L13 | psi-mi:“MI:0407”(direct interaction) | 0.590 |
| BCL2L13 | SOD1 | psi-mi:“MI:0915”(physical association) | 0.590 |
| BCL2L13 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| BCL2L13 | VAMP4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BCL2L13 | VAMP3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BCL2L13 | BET1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BCL2L13 | TMEM128 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMUB2 | BCL2L13 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BCL2L13 | NINJ2 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (167): BCL2L13 (Two-hybrid), BCL2L13 (Two-hybrid), BCL2L13 (Two-hybrid), BCL2L13 (Two-hybrid), BCL2L13 (Two-hybrid), BCL2L13 (Two-hybrid), PLLP (Two-hybrid), TMUB2 (Two-hybrid), TMEM128 (Two-hybrid), TMEM86B (Two-hybrid), BCL2L13 (Two-hybrid), BCL2L13 (Two-hybrid), SOD1 (Affinity Capture-MS), BCL2L13 (Affinity Capture-MS), BCL2L13 (Two-hybrid)
ESM2 similar proteins: A1A4V9, A2A8U2, A4IFI1, A8E4X8, B0BMZ6, F1R7R1, G5E8P0, O75161, P12755, P59017, P59240, P85299, P97432, Q14DQ1, Q2HJA5, Q3B7M3, Q3U0L2, Q3ZBK7, Q3ZK22, Q53GS7, Q569K6, Q58DT5, Q5FVG6, Q5RAS2, Q5SNT2, Q5T7N3, Q5XI52, Q60698, Q6NZQ0, Q80U62, Q812A5, Q8C0R7, Q8C190, Q8CC12, Q8IWY9, Q8IYY4, Q8N9B5, Q8NFW9, Q8R1F1, Q8R322
Diamond homologs: P59017, Q9BXK5
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
97 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 74 |
| Likely benign | 8 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1823 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 22:17655658:TTAG:T | acceptor_loss | 1.0000 |
| 22:17655659:TAGG:T | acceptor_loss | 1.0000 |
| 22:17655660:A:AG | acceptor_gain | 1.0000 |
| 22:17655660:AGGTT:A | acceptor_loss | 1.0000 |
| 22:17655661:G:GC | acceptor_loss | 1.0000 |
| 22:17655661:G:GG | acceptor_gain | 1.0000 |
| 22:17655828:CCAAG:C | donor_loss | 1.0000 |
| 22:17655829:CAAGG:C | donor_loss | 1.0000 |
| 22:17655830:AAGG:A | donor_loss | 1.0000 |
| 22:17655831:AGGTA:A | donor_loss | 1.0000 |
| 22:17655832:GGTA:G | donor_loss | 1.0000 |
| 22:17655834:T:G | donor_loss | 1.0000 |
| 22:17683209:TTCA:T | acceptor_loss | 1.0000 |
| 22:17683211:CAGG:C | acceptor_loss | 1.0000 |
| 22:17683212:A:AG | acceptor_gain | 1.0000 |
| 22:17683212:AG:A | acceptor_gain | 1.0000 |
| 22:17683212:AGG:A | acceptor_gain | 1.0000 |
| 22:17683212:AGGG:A | acceptor_gain | 1.0000 |
| 22:17683213:G:A | acceptor_gain | 1.0000 |
| 22:17683213:G:GA | acceptor_gain | 1.0000 |
| 22:17683213:GGG:G | acceptor_gain | 1.0000 |
| 22:17683213:GGGG:G | acceptor_gain | 1.0000 |
| 22:17683213:GGGGT:G | acceptor_gain | 1.0000 |
| 22:17683317:TGAAG:T | donor_loss | 1.0000 |
| 22:17683319:AAGGT:A | donor_loss | 1.0000 |
| 22:17683320:AGG:A | donor_loss | 1.0000 |
| 22:17683321:GG:G | donor_loss | 1.0000 |
| 22:17683323:T:G | donor_loss | 1.0000 |
| 22:17689139:GCCA:G | donor_gain | 1.0000 |
| 22:17689143:G:GG | donor_gain | 1.0000 |
AlphaMissense
3126 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 22:17702384:T:A | W200R | 0.997 |
| 22:17702384:T:C | W200R | 0.997 |
| 22:17726979:C:A | N301K | 0.997 |
| 22:17726979:C:G | N301K | 0.997 |
| 22:17726902:T:A | W276R | 0.995 |
| 22:17726902:T:C | W276R | 0.995 |
| 22:17726976:C:A | N300K | 0.995 |
| 22:17726976:C:G | N300K | 0.995 |
| 22:17689028:T:C | F91S | 0.994 |
| 22:17702386:G:C | W200C | 0.994 |
| 22:17702386:G:T | W200C | 0.994 |
| 22:17726968:A:C | S298R | 0.994 |
| 22:17726970:T:A | S298R | 0.994 |
| 22:17726970:T:G | S298R | 0.994 |
| 22:17726988:T:A | N304K | 0.994 |
| 22:17726988:T:G | N304K | 0.994 |
| 22:17689003:T:C | F83L | 0.993 |
| 22:17689005:T:A | F83L | 0.993 |
| 22:17689005:T:G | F83L | 0.993 |
| 22:17655764:T:A | V18D | 0.992 |
| 22:17726904:G:C | W276C | 0.992 |
| 22:17726904:G:T | W276C | 0.992 |
| 22:17655767:T:A | V19D | 0.991 |
| 22:17689025:T:A | V90E | 0.991 |
| 22:17689027:T:C | F91L | 0.991 |
| 22:17689029:C:A | F91L | 0.991 |
| 22:17689029:C:G | F91L | 0.991 |
| 22:17726975:A:T | N300I | 0.991 |
| 22:17655742:T:C | F11L | 0.990 |
| 22:17655744:T:A | F11L | 0.990 |
dbSNP variants (sampled 300 via entrez): RS1000000965 (22:17630228 A>AC), RS1000031146 (22:17694116 A>T), RS1000046453 (22:17687927 C>A,T), RS1000047683 (22:17650143 T>A), RS1000110328 (22:17655531 T>A), RS1000111151 (22:17642038 A>G), RS1000111639 (22:17674586 A>G), RS1000114120 (22:17685381 A>T), RS1000187602 (22:17701631 A>C), RS1000189542 (22:17723648 C>T), RS1000191738 (22:17671661 C>A), RS1000196439 (22:17634474 C>T), RS1000278044 (22:17688107 C>T), RS1000311178 (22:17634190 T>G), RS1000311934 (22:17671494 G>A)
Disease associations
OMIM: gene MIM:619822 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
13 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004613_95 | Sum neutrophil eosinophil counts | 3.000000e-09 |
| GCST004614_53 | Granulocyte count | 3.000000e-09 |
| GCST004626_164 | Myeloid white cell count | 6.000000e-10 |
| GCST004629_51 | Neutrophil count | 8.000000e-09 |
| GCST005925_4 | Baseline cortisol levels in response to low dose short synacthen test in corticosteroid treated asthma | 2.000000e-08 |
| GCST006102_5 | Interleukin-10 levels | 2.000000e-09 |
| GCST010083_357 | Hemoglobin levels | 1.000000e-08 |
| GCST90002381_439 | Eosinophil count | 2.000000e-12 |
| GCST90002389_434 | Lymphocyte percentage of white cells | 1.000000e-16 |
| GCST90002393_480 | Monocyte count | 3.000000e-09 |
| GCST90002398_72 | Neutrophil count | 6.000000e-24 |
| GCST90002399_98 | Neutrophil percentage of white cells | 3.000000e-12 |
| GCST90002407_188 | White blood cell count | 1.000000e-20 |
EFO canonical traits (10, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004833 | neutrophil count |
| EFO:0004842 | eosinophil count |
| EFO:0007987 | granulocyte count |
| EFO:0005843 | cortisol measurement |
| EFO:0009175 | response to synacthen |
| EFO:0004750 | interleukin 10 measurement |
| EFO:0004509 | hemoglobin measurement |
| EFO:0007993 | lymphocyte percentage of leukocytes |
| EFO:0005091 | monocyte count |
| EFO:0007990 | neutrophil percentage of leukocytes |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067078 (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 |
|---|---|---|---|---|
| 6.58 | Kd | 261.9 | nM | CHEMBL5653589 |
| 6.58 | ED50 | 261.9 | nM | CHEMBL5653589 |
PubChem BioAssay actives
1 with measured affinity, of 2 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 |
|---|---|---|---|---|
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2147944: Binding affinity to human BCL2L13 incubated for 45 mins by Kinobead based pull down assay | kd | 0.2619 | uM |
CTD chemical–gene interactions
51 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases expression, increases expression, affects cotreatment | 3 |
| GSK-J4 | decreases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| deoxynivalenol | increases expression | 1 |
| potassium perchlorate | decreases expression | 1 |
| sodium arsenate | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| coumarin | affects phosphorylation | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| deguelin | decreases expression | 1 |
| fenpyroximate | decreases expression | 1 |
| 4-chloro-N-((4-(1,1-dimethylethyl)phenyl)methyl)-3-ethyl-1-methyl-1H-pyrazole-5-carboxamide | decreases expression | 1 |
| oxidized-L-alpha-1-palmitoyl-2-arachidonoyl-sn-glycero-3-phosphorylcholine | affects expression, increases reaction | 1 |
| pyrimidifen | decreases expression | 1 |
| abrine | increases expression | 1 |
| pyrachlostrobin | decreases expression | 1 |
| bisphenol S | increases expression | 1 |
| picoxystrobin | decreases expression | 1 |
| duvelisib | increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Antimycin A | decreases expression | 1 |
| Atrazine | decreases expression | 1 |
| Vehicle Emissions | affects expression, increases reaction | 1 |
| Azacitidine | increases expression | 1 |
| Cannabidiol | decreases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Diazinon | increases methylation | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5650986 | Binding | Binding affinity to human BCL2L13 incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D7KX | Ubigene A-549 BCL2L13 KO | 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.