BCL2L11
BCL2 like 11, the group of BCL2 homology region 3 (BH3) only
Basic information
Region (hg38): 2:111119378-111168444
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the BCL2L11 gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
| Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
|---|---|---|---|---|---|---|
| synonymous | 1 | |||||
| missense | 11 | 11 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 1 | 1 | ||||
| non coding | 1 | |||||
| Total | 0 | 0 | 11 | 0 | 2 |
Variants in BCL2L11
This is a list of pathogenic ClinVar variants found in the BCL2L11 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 2-111123784-C-T | Benign (Dec 31, 2019) | |||
| 2-111123785-C-G | not specified | Uncertain significance (Jun 07, 2024) | ||
| 2-111123830-A-G | not specified | Uncertain significance (Aug 17, 2021) | ||
| 2-111123848-T-C | not specified | Uncertain significance (Feb 27, 2024) | ||
| 2-111123872-A-G | not specified | Uncertain significance (Dec 19, 2022) | ||
| 2-111123885-A-G | not specified | Uncertain significance (Oct 06, 2022) | ||
| 2-111123893-G-C | not specified | Uncertain significance (Jun 10, 2022) | ||
| 2-111123954-C-G | not specified | Uncertain significance (Dec 01, 2022) | ||
| 2-111124038-C-T | not specified | Uncertain significance (Feb 21, 2024) | ||
| 2-111150070-G-A | not specified | Uncertain significance (Mar 23, 2023) | ||
| 2-111150129-C-A | not specified | Uncertain significance (Mar 08, 2024) | ||
| 2-111161417-A-G | Benign (Oct 28, 2020) | |||
| 2-111164135-A-G | not specified | Likely benign (Jun 30, 2023) | ||
| 2-111164196-C-T | not specified | Uncertain significance (May 10, 2024) | ||
| 2-111164197-G-A | not specified | Uncertain significance (Dec 07, 2021) | ||
| 2-111164202-A-G | not specified | Uncertain significance (Mar 25, 2024) | ||
| 2-111164209-G-A | BCL2L11-related condition | Uncertain significance (May 22, 2024) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| BCL2L11 | protein_coding | protein_coding | ENST00000393256 | 3 | 49070 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.889 | 0.110 | 125582 | 0 | 1 | 125583 | 0.00000398 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.121 | 115 | 119 | 0.969 | 0.00000692 | 1288 |
| Missense in Polyphen | 61 | 63.824 | 0.95575 | 701 | ||
| Synonymous | -0.900 | 51 | 43.5 | 1.17 | 0.00000258 | 397 |
| Loss of Function | 2.47 | 0 | 7.13 | 0.00 | 4.35e-7 | 71 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00 | 0.00 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.00000881 | 0.00000881 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Induces apoptosis and anoikis. Isoform BimL is more potent than isoform BimEL. Isoform Bim-alpha1, isoform Bim-alpha2 and isoform Bim-alpha3 induce apoptosis, although less potent than isoform BimEL, isoform BimL and isoform BimS. Isoform Bim-gamma induces apoptosis. Isoform Bim-alpha3 induces apoptosis possibly through a caspase-mediated pathway. Isoform BimAC and isoform BimABC lack the ability to induce apoptosis. {ECO:0000269|PubMed:11997495, ECO:0000269|PubMed:15486195, ECO:0000269|PubMed:9430630}.;
- Pathway
- PI3K-Akt signaling pathway - Homo sapiens (human);Non-alcoholic fatty liver disease (NAFLD) - Homo sapiens (human);Apoptosis - multiple species - Homo sapiens (human);FoxO signaling pathway - Homo sapiens (human);MicroRNAs in cancer - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);Apoptosis - Homo sapiens (human);Colorectal cancer - Homo sapiens (human);Apoptosis Modulation and Signaling;Brain-Derived Neurotrophic Factor (BDNF) signaling pathway;Apoptosis;Photodynamic therapy-induced AP-1 survival signaling.;Photodynamic therapy-induced unfolded protein response;Apoptotic Signaling Pathway;BMP2-WNT4-FOXO1 Pathway in Human Primary Endometrial Stromal Cell Differentiation;Transcriptional regulation by RUNX3;Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer,s disease models;PI3K-Akt Signaling Pathway;Chromosomal and microsatellite instability in colorectal cancer;ErbB Signaling Pathway;DNA Damage Response (only ATM dependent);Disease;Signal Transduction;Gene expression (Transcription);RUNX3 regulates BCL2L11 (BIM) transcription;Transcriptional regulation by RUNX3;Generic Transcription Pathway;RNA Polymerase II Transcription;Activation of BIM and translocation to mitochondria ;Activation of BH3-only proteins;Intrinsic Pathway for Apoptosis;Apoptosis;Programmed Cell Death;p73 transcription factor network;NRAGE signals death through JNK;Death Receptor Signalling;IL3;p75 NTR receptor-mediated signalling;BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members;Signaling by BRAF and RAF fusions;Oncogenic MAPK signaling;Diseases of signal transduction;AP-1 transcription factor network;p75(NTR)-mediated signaling;Cell death signalling via NRAGE, NRIF and NADE;FoxO family signaling
(Consensus)
Recessive Scores
- pRec
- 0.482
Intolerance Scores
- loftool
- 0.186
- rvis_EVS
- -0.25
- rvis_percentile_EVS
- 35.75
Haploinsufficiency Scores
- pHI
- 0.176
- hipred
- N
- hipred_score
- 0.423
- ghis
- 0.585
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- S
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.991
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Bcl2l11
- Phenotype
- endocrine/exocrine gland phenotype; growth/size/body region phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); homeostasis/metabolism phenotype; immune system phenotype; cellular phenotype; pigmentation phenotype; neoplasm; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); hematopoietic system phenotype; reproductive system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); normal phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); limbs/digits/tail phenotype; renal/urinary system phenotype;
Gene ontology
- Biological process
- in utero embryonic development;B cell homeostasis;B cell apoptotic process;kidney development;protein insertion into mitochondrial membrane involved in apoptotic signaling pathway;myeloid cell homeostasis;apoptotic process;cell-matrix adhesion;spermatogenesis;brain development;male gonad development;intrinsic apoptotic signaling pathway in response to DNA damage;mammary gland development;positive regulation of protein homooligomerization;positive regulation of autophagy in response to ER overload;response to endoplasmic reticulum stress;tube formation;odontogenesis of dentin-containing tooth;regulation of apoptotic process;T cell homeostasis;positive regulation of apoptotic process;positive regulation of cysteine-type endopeptidase activity involved in apoptotic process;positive regulation of neuron apoptotic process;ear development;positive regulation of cell cycle;regulation of organ growth;developmental pigmentation;regulation of developmental pigmentation;spleen development;thymus development;post-embryonic animal organ morphogenesis;positive regulation of apoptotic process by virus;cellular process regulating host cell cycle in response to virus;thymocyte apoptotic process;cellular response to glucocorticoid stimulus;positive regulation of release of cytochrome c from mitochondria;extrinsic apoptotic signaling pathway in absence of ligand;positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway;apoptotic process involved in embryonic digit morphogenesis;positive regulation of IRE1-mediated unfolded protein response;positive regulation of fibroblast apoptotic process;positive regulation of intrinsic apoptotic signaling pathway
- Cellular component
- mitochondrion;mitochondrial outer membrane;cytosol;endomembrane system;extrinsic component of membrane;Bcl-2 family protein complex
- Molecular function
- protein binding;microtubule binding;protein kinase binding;protein heterodimerization activity