BCL2L10 BCL2 like 10 [Homo sapiens (human)] - Gene

Summary

Official Symbol: BCL2L10provided by HGNC
Official Full Name: BCL2 like 10provided by HGNC
Primary source: HGNC:HGNC:993
See related: Ensembl:ENSG00000137875 MIM:606910
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: Boo; Diva; BCL-B; bcl2-L-10
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]
Expression: Broad expression in skin (RPKM 2.0), kidney (RPKM 1.9) and 15 other tissues See more
Orthologs: mouse all

Genomic context

Location:: 15q21.2

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
109.20190905	current	GRCh38.p13 (GCF_000001405.39)	15	NC_000015.10 (52109263..52112775, complement)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (52401490..52404972, complement)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

BCL2L10 (Nrh protein) is localized to the endoplasmic reticulum and is a poor prognostic marker linked with chemotherapy resistance in breast cancer.
Title: Breast Cancer Targeting through Inhibition of the Endoplasmic Reticulum-Based Apoptosis Regulator Nrh/BCL2L10.
marrow BCL2L10 positive cells may be a biomarker for azacitidine response and OS, with a potential impact in clinical practice.
Title: BCL2L10 positive cells in bone marrow are an independent prognostic factor of azacitidine outcome in myelodysplastic syndrome and acute myeloid leukemia.
These results suggest that by inhibiting Bcl2l10 activity and promoting contact between endoplasmic reticulum and mitochondria, IRBIT facilitates massive Ca(2+) transfer to mitochondria and promotes apoptosis.
Title: IRBIT controls apoptosis by interacting with the Bcl-2 homolog, Bcl2l10, and by promoting ER-mitochondria contact.
we describe the identification of a structural genetic variant segregating with affective psychosis in a family with multiple members suffering from bipolar I disorder. Using whole-genome sequencing, we delineated the translocation breakpoints as corresponding intragenic events disrupting BCL2L10 and PNLDC1. These data warrant further consideration for BCL2L10 and PNLDC1 as novel candidates for affective psychosis.
Title: A balanced translocation disrupting BCL2L10 and PNLDC1 segregates with affective psychosis.
Results found that BCL2L10 was down-regulated in human hepatocellular carcinoma (HCC) tissues; its overexpression suppresses cell growth and migration of HCC cell lines. These results suggested that BCL2L10 functions as a tumor-suppressor in HCC.
Title: BCL2L10 inhibits growth and metastasis of hepatocellular carcinoma both in vitro and in vivo.
BCLB expression was a starvation stress sensor inducing apoptosis and autophagy simultaneously in HCC cells through the adenosine monophosphate-activated protein kinase AMPK-mTOR signaling cascade.
Title: BCLB, methylated in hepatocellular carcinoma, is a starvation stress sensor that induces apoptosis and autophagy through the AMPK-mTOR signaling cascade.
Identification of a variant in the BCL2L10 gene as a protective factor for the development of therapy-related myeloid neoplasms and de novo myelodysplastic syndrome.
Title: The BCL2L10 Leu21Arg variant and risk of therapy-related myeloid neoplasms and de novo myelodysplastic syndromes.
polyubiquitination and proteasomal turnover dictate the expression level and anti-apoptotic capacity of Bcl-B
Title: Polyubiquitination and proteasomal turnover controls the anti-apoptotic activity of Bcl-B.
Data suggest that BCL2L10 is localized predominantly to mitochondria in high-quality preimplantation embryos/blastocysts; in contrast, abnormal embryos/blastocysts exhibit extra-mitochondrial localization (cytoplasm/cell nucleus) of BCL2L10.
Title: Subcellular dynamics of the maternal cell death regulator BCL2L10 in human preimplantation embryos.
Bcl-B in complex with the BH3 motif of Bim protected cells from Bax-dependent apoptotic pathways.
Title: The restricted binding repertoire of Bcl-B leaves Bim as the universal BH3-only prosurvival Bcl-2 protein antagonist.

Submit: New GeneRIF Correction See all GeneRIFs (26)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from BioSystems

Go to the top of the page Help

Apoptosis Modulation and Signaling, organism-specific biosystem (from WikiPathways)
Apoptosis Modulation and Signaling, organism-specific biosystemApoptosis, or cell death program, can be activated by various mechanisms within the extrinsic and the intrinsic pathway. While activation of cell death receptors leads to the engagement of the extrin...
Regulation of Apoptosis by Parathyroid Hormone-related Protein, organism-specific biosystem (from WikiPathways)
Regulation of Apoptosis by Parathyroid Hormone-related Protein, organism-specific biosystemThis pathway is based on Figure 8 of "Parathyroid hormone-related protein regulates cell survival pathways via integrin alpha6beta4-mediated activation of phosphatidylinositol 3-kinase/Akt signaling....

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

NoName (e-PCR)
- UniSTS:487042

STS-R53538 (e-PCR)
- UniSTS:64956

NoName (e-PCR)
- UniSTS:483035

Homology

Homologs of the BCL2L10 gene: The BCL2L10 gene is conserved in chimpanzee, Rhesus monkey, cow, mouse, and rat.
Orthologs from Annotation Pipeline: 150 organisms have orthologs with human gene BCL2L10
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
caspase binding	IPI Inferred from Physical Interaction more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein heterodimerization activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
protein homodimerization activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed

Process	Evidence Code	Pubs
activation of cysteine-type endopeptidase activity involved in apoptotic process	TAS Traceable Author Statement more info	PubMed
extrinsic apoptotic signaling pathway in absence of ligand	IBA Inferred from Biological aspect of Ancestor more info	PubMed
female gamete generation	TAS Traceable Author Statement more info	PubMed
intrinsic apoptotic signaling pathway in response to DNA damage	IBA Inferred from Biological aspect of Ancestor more info	PubMed
negative regulation of apoptotic process	IBA Inferred from Biological aspect of Ancestor more info	PubMed
negative regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
negative regulation of intrinsic apoptotic signaling pathway	IBA Inferred from Biological aspect of Ancestor more info	PubMed
spermatogenesis	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
cytosol	IDA Inferred from Direct Assay more info	PubMed
integral component of membrane	IEA Inferred from Electronic Annotation more info
membrane	TAS Traceable Author Statement more info	PubMed
mitochondrial outer membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
mitochondrion	IDA Inferred from Direct Assay more info	PubMed
nuclear membrane	IEA Inferred from Electronic Annotation more info

General protein information

Go to the top of the page Help

Preferred Names: bcl-2-like protein 10

Names: BCL2-like 10 (apoptosis facilitator); anti-apoptotic protein NrH; apoptosis regulator Bcl-B; death inducer binding to vBcl-2 and Apaf-1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001306168.1 → NP_001293097.1 bcl-2-like protein 10 isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC023906, AF326964, BC143227, BX119239

Consensus CDS

CCDS76756.1

UniProtKB/Swiss-Prot

Q9HD36

UniProtKB/TrEMBL

H0YMD5

Related

ENSP00000453562.1, ENST00000561198.1

Conserved Domains (1) summary

cd06845
Location:16 → 164

Bcl-2_like; Apoptosis regulator proteins of the Bcl-2 family, named after B-cell lymphoma 2. This alignment model spans what have been described as Bcl-2 homology regions BH1, BH2, BH3, and BH4. Many members of this family have an additional C-terminal transmembrane ...
NM_020396.3 → NP_065129.1 bcl-2-like protein 10 isoform 2

See identical proteins and their annotated locations for NP_065129.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. It encodes isoform 2, which has a shorter and distinct C-terminus, compared to isoform 1.

Source sequence(s)

AF326964, BX119239

Consensus CDS

CCDS10148.1

UniProtKB/Swiss-Prot

Q9HD36

Related

ENSP00000260442.3, ENST00000260442.3

Conserved Domains (1) summary

cd06845
Location:16 → 169

Bcl-2_like; Apoptosis regulator proteins of the Bcl-2 family, named after B-cell lymphoma 2. This alignment model spans what have been described as Bcl-2 homology regions BH1, BH2, BH3, and BH4. Many members of this family have an additional C-terminal transmembrane ...