BCL2L10
protein-codingBCL2 like 10, the group of BCL2 family
Gene summary
The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. The protein encoded by this gene contains conserved BH4, BH1 and BH2 domains. This protein can interact with other members of BCL-2 protein family including BCL2, BCL2L1/BCL-X(L), and BAX. Overexpression of this gene has been shown to suppress cell apoptosis possibly through the prevention of cytochrome C release from the mitochondria, and thus activating caspase-3 activation. The mouse counterpart of this protein is found to interact with Apaf1 and forms a protein complex with Caspase 9, which suggests the involvement of this protein in APAF1 and CASPASE 9 related apoptotic pathway. [provided by RefSeq, Jul 2008]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~3.5 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to BCL2L10 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_020396.4. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 31 | 1 | 32 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 31 | 1 | 0 | 32 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_065129.1 | 2 | MANE Select | |
| Ensembl | ENSP00000260442.3 | 2 | MANE Select | |
| RefSeq | NP_001293097.1 | 2 | Standard | |
| Ensembl | ENSP00000453562.1 | 2 | Standard |
Model Organisms & Knockout Phenotypes
Observed phenotypic effects in mouse and zebrafish models
| Gene / Model | Organism | Observed Phenotype |
|---|---|---|
| bcl2l10 | Danio rerio | Structure: whole organism Quality: dead abnormal |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Busulfan Pathway, Pharmacodynamics
- Apoptosis Modulation and Signaling
- Regulation of Apoptosis by Parathyroid Hormone-related Protein
Biological Process
- activation of cysteine-type endopeptidase activity involved in apoptotic process
- spermatogenesis
- female gamete generation
- intrinsic apoptotic signaling pathway in response to DNA damage
- negative regulation of apoptotic process
Molecular Function
- protein binding
- protein homodimerization activity
- protein heterodimerization activity
- caspase binding
Cellular Component
- mitochondrion
- mitochondrial outer membrane
- cytosol
- membrane
- integral component of membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000260442
- Coding exons
- 2
- Length
- 3513
- Individuals with no LoFs
- 125235
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 22
- Defined
- 125257
- p
- 0.0000878
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.308 | 106 | 115 | 0.919 | 0.00000685 | 1243 |
| Missense (PolyPhen) | 30 | 27.609 | 1.0866 | 344 | ||
| Synonymous | -1.49 | 70 | 55.9 | 1.25 | 0.00000339 | 452 |
| Loss of Function | 0.409 | 3 | 3.87 | 0.775 | 1.65e-7 | 48 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0 | 0.0 | absent |
| Latino/Admixed American | 0.00029 | 0.00029 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.00011 | 0.00011 | rare |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.000068 | 0.000062 | rare |
| South Asian | 0.000069 | 0.000065 | rare |
| Other | 0.00018 | 0.00016 | rare |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Promotes cell survival. Suppresses apoptosis induced by BAX but not BAK. {ECO:0000269|PubMed:11278245}.;
Recessive Scores
- pRec
- 0.136
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- E
- Indispensability score
- 0.800
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |