BCL2L11

BCL2 like 11, the group of BCL2 homology region 3 (BH3) only

Basic information

Region (hg38): 2:111119377-111168445

Links

ENSG00000153094 ∙ NCBI:10018 ∙ OMIM:603827 ∙ HGNC:994 ∙ Uniprot:O43521 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the BCL2L11 gene.

• Inborn genetic diseases (9 variants)
• not provided (2 variants)

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	1
missense			8			8
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding					1	1
Total	0	0	8	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 (Apr 12, 2022)
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)
2-111164197-G-A		not specified	Uncertain significance (Dec 07, 2021)

GnomAD

Source: gnomAD

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: dbNSFP

• 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