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BCL2L10 BCL2 like 10 [ Homo sapiens (human) ]

Gene ID: 10017, updated on 27-Nov-2024

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; AllianceGenome:HGNC:993
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
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Genomic context

See BCL2L10 in Genome Data Viewer
Location:
15q21.2
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (52109263..52112775, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (49917909..49921421, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (52401460..52404972, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC112268150 Neighboring gene uncharacterized LOC124903494 Neighboring gene MAPK6-RPS13P8 intergenic CAGE-defined mid-level expression enhancer Neighboring gene ReSE screen-validated silencer GRCh37_chr15:52386957-52387157 Neighboring gene Sharpr-MPRA regulatory region 14256 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9419 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9420 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9421 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9422 Neighboring gene ribosomal protein S13 pseudogene 8 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6444 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9423 Neighboring gene G protein subunit beta 5 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_39709 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6445 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:52472339-52472840 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_39732 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:52483687-52484186 Neighboring gene competing endogenous lncRNA 1 for miR-4707-5p and miR-4767 Neighboring gene myosin VC Neighboring gene uncharacterized LOC105370820 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:52521219-52521393

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC129810, MGC129811

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium ion binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables caspase binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables channel activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in extrinsic apoptotic signaling pathway in absence of ligand IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in female gamete generation TAS
Traceable Author Statement
more info
PubMed 
involved_in intrinsic apoptotic signaling pathway in response to DNA damage IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in microtubule organizing center organization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in release of cytochrome c from mitochondria IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in spermatogenesis TAS
Traceable Author Statement
more info
PubMed 
involved_in transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in cytosol IDA
Inferred from Direct Assay
more info
PubMed 
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
located_in membrane TAS
Traceable Author Statement
more info
PubMed 
located_in mitochondria-associated endoplasmic reticulum membrane contact site IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in mitochondrial outer membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
located_in nuclear membrane IEA
Inferred from Electronic Annotation
more info
 
located_in spindle ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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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)

  1. NM_001306168.1NP_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/TrEMBL
    H0YMD5
    Related
    ENSP00000453562.1, ENST00000561198.1
    Conserved Domains (1) summary
    cd06845
    Location:16164
    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 ...
  2. NM_020396.4NP_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)
    AC023906
    Consensus CDS
    CCDS10148.1
    UniProtKB/Swiss-Prot
    Q3SX80, Q52LQ9, Q8TCS9, Q9HD36
    Related
    ENSP00000260442.3, ENST00000260442.3
    Conserved Domains (1) summary
    cd06845
    Location:16169
    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 ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    52109263..52112775 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    49917909..49921421 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)