BCL2L10

BCL2 Like 10, Apoptosis Regulator

Gene Information Card

Symbol BCL2L10
Full Name BCL2 Like 10
Gene Type protein-coding
Chromosomal Location 15q21.2
NCBI Gene ID 10017 ncbi.nlm.nih.gov/gene/10017
Ensembl ID ENSG00000137868
UniProt ID Q9HD36
OMIM ID 606910
HGNC ID 993
Aliases Bcl-B, Boo, Diva

Description

BCL2L10 (BCL2 Like 10) is a protein-coding gene belonging to the BCL-2 family of apoptosis regulators. The encoded protein contains conserved BCL-2 homology domains (BH1, BH2, BH3, BH4) and a transmembrane domain. It can both promote and inhibit apoptosis depending on cellular context, and is involved in mitochondrial membrane permeabilization and caspase activation.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Breast Cancer Overexpression of BCL2L10 inhibits apoptosis, promoting tumor cell survival PMID: 15626733
Lung Cancer Altered expression linked to chemoresistance via anti-apoptotic function PMID: 19137017
Colorectal Cancer Upregulation associated with poor prognosis and resistance to therapy PMID: 21804532

Expression Profile

Tissue Expression
Tissue nTPM level
Testis 12.5 Medium
Bone Marrow 8.3 Low
Lymph Node 6.1 Low
Breast 4.7 Low
Lung 3.2 Not detected
Cell Line Expression
Cell Line nTPM Notes
MCF7 (Breast Cancer) 15.2 Moderate expression
A549 (Lung Cancer) 9.8 Low expression
HEK293 (Embryonic Kidney) 5.4 Low expression
K562 (Leukemia) 2.1 Not detected
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1A>G (p.Met1Val) Missense <0.1% Potential loss of start codon, reduced protein expression
c.100C>T (p.Arg34Trp) Missense <0.1% Unknown functional effect
c.200_201insA Frameshift <0.1% Predicted loss of function
Mutation functional classification

Loss of Function (LOF)

Frameshift and nonsense mutations that truncate the protein or disrupt BH domains are predicted to cause loss of anti-apoptotic function.

Gain of Function (GOF)

Missense mutations that enhance stability or dimerization with pro-apoptotic partners may confer gain-of-function, but evidence is limited.

Dominant Negative (DN)

Mutations that disrupt BH3 binding but retain dimerization could act as dominant-negative inhibitors of wild-type BCL2L10.

Pathways

Apoptosis - Homo sapiens (human) (KEGG: hsa04210)
Intrinsic Pathway for Apoptosis (Reactome: R-HSA-109606)

Protein Summary

BCL2L10 (Bcl-B) is a 204-amino acid protein with a molecular weight of approximately 23 kDa. It localizes to the mitochondrial outer membrane and contains BH1, BH2, BH3, and BH4 domains. BCL2L10 can heterodimerize with pro-apoptotic BCL-2 family members such as BAX and BAK, inhibiting their pro-apoptotic function. It also interacts with BCL2L11 (BIM) and BID. The protein is expressed in testis, bone marrow, and lymphoid tissues, and its overexpression in various cancers contributes to chemoresistance.

Related Products

Product name Cat.No. Species Gene ID
BCL2L10 Knockout HEK293 Cell Line EDJ-KQ6864 Human 10017 Details Get a Quote
BCL2L10 Knockout HeLa Cell Line EDJ-KQ55300 Human 10017 Details Get a Quote
BCL2L10 Knockout A-549 Cell Line EDJ-KQ63782 Human 10017 Details Get a Quote
BCL2L10 Knockout HCT 116 Cell Line EDJ-KQ72240 Human 10017 Details Get a Quote
Displaying Records 1 To 4 Of 4 Records
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