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    BCL2L14 BCL2 like 14 [ Homo sapiens (human) ]

    Gene ID: 79370, updated on 10-Dec-2024

    Summary

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    Official Symbol
    BCL2L14provided by HGNC
    Official Full Name
    BCL2 like 14provided by HGNC
    Primary source
    HGNC:HGNC:16657
    See related
    Ensembl:ENSG00000121380 MIM:606126; AllianceGenome:HGNC:16657
    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
    BCLG
    Summary
    The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. Overexpression of this gene has been shown to induce apoptosis in cells. Three alternatively spliced transcript variants encoding two distinct isoforms have been reported for this gene. [provided by RefSeq, May 2009]
    Annotation information
    Note: This gene has been reviewed for its involvement in coronavirus biology, and is locus in the vicinity of disease-associated variant(s).
    Expression
    Biased expression in testis (RPKM 9.1), duodenum (RPKM 7.7) and 10 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See BCL2L14 in Genome Data Viewer
    Location:
    12p13.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (12049861..12099695)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (11918992..11968813)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (12202795..12252629)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902877 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5965 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5966 Neighboring gene long intergenic non-protein coding RNA 1252 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5967 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:11744935-11745672 Neighboring gene Sharpr-MPRA regulatory region 654 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:11761757-11762318 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:11762319-11762880 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr12:11762881-11763442 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5968 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4242 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4243 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4244 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4245 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5969 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5970 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5971 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:11819261-11819894 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:11819895-11820529 Neighboring gene uncharacterized LOC124902879 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5972 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5973 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5974 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5976 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5975 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5977 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4246 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5978 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5979 Neighboring gene ETS variant transcription factor 6 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5980 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5981 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5982 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5983 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5985 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5984 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5986 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5987 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5988 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5989 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5990 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5991 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5992 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5993 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:11947826-11948514 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:11948515-11949203 Neighboring gene Sharpr-MPRA regulatory region 735 Neighboring gene Sharpr-MPRA regulatory region 6497 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5995 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5994 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5996 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4247 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5997 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:11991350-11992549 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:12008095-12008671 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:12022641-12023141 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4248 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:12031171-12031968 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:12037195-12038394 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:12038421-12039131 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5998 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:12080535-12080690 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:12102758-12103542 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5999 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:12111509-12112708 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:12161406-12162286 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:12162287-12163167 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:12163168-12164048 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6003 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6004 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6005 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4249 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6006 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6007 Neighboring gene Sharpr-MPRA regulatory region 1566 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:12199831-12200330 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6008 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr12:12210407-12211072 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr12:12211073-12211736 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:12216444-12216992 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:12222531-12222710 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6009 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:12225917-12226604 Neighboring gene Sharpr-MPRA regulatory region 14349 Neighboring gene Sharpr-MPRA regulatory region 8243 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:12283961-12284161 Neighboring gene microRNA 1244-4 Neighboring gene prothymosin alpha pseudogene 9 Neighboring gene ribosomal protein L21 pseudogene 100 Neighboring gene LDL receptor related protein 6

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Upregulated BclG(L) expression enhances apoptosis of peripheral blood CD4+ T lymphocytes in patients with systemic lupus erythematosus. Luo N, et al. Clin Immunol, 2009 Sep. PMID 19524489
    2. Human BCL-G regulates secretion of inflammatory chemokines but is dispensable for induction of apoptosis by IFN-γ and TNF-α in intestinal epithelial cells. Woznicki JA, et al. Cell Death Dis, 2020 Jan 27. PMID 31988296, Free PMC Article
    3. Medullary Breast Carcinoma, a Triple-Negative Breast Cancer Associated with BCLG Overexpression. Romero P, et al. Am J Pathol, 2018 Oct. PMID 30075151
    4. Candidate tumour suppressor Fau regulates apoptosis in human cells: an essential role for Bcl-G. Pickard MR, et al. Biochim Biophys Acta, 2011 Sep. PMID 21550398
    5. Multistage analysis of variants in the inflammation pathway and lung cancer risk in smokers. Spitz MR, et al. Cancer Epidemiol Biomarkers Prev, 2012 Jul. PMID 22573796, Free PMC Article

    See all (41) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Loss of Bcl-G, a Bcl-2 family member, augments the development of inflammation-associated colorectal cancer.
      Title: Loss of Bcl-G, a Bcl-2 family member, augments the development of inflammation-associated colorectal cancer.
    2. Human BCL-G regulates secretion of inflammatory chemokines but is dispensable for induction of apoptosis by IFN-gamma and TNF-alpha in intestinal epithelial cells.
      Title: Human BCL-G regulates secretion of inflammatory chemokines but is dispensable for induction of apoptosis by IFN-γ and TNF-α in intestinal epithelial cells.
    3. these data reveal adjacent gene rearrangements as a class of underexplored genetic aberrations that could be pathological in breast cancer, and identify BCL2L14-ETV6 as a recurrent gene fusion in more aggressive form of Triple-negative breast cancer tumor
      Title: Landscape analysis of adjacent gene rearrangements reveals BCL2L14-ETV6 gene fusions in more aggressive triple-negative breast cancer.
    4. BCL2L14 knockdown exhibited similar effects similar to those of miR-496 overexpression, and the restored BCL2L14expression reversed the protective effects of miR-496 on SH-SY5Y cells
      Title: Upregulation of miR-496 decreases cerebral ischemia/reperfusion injury by negatively regulating BCL2L14.
    5. The results show that BCLG is overexpressed more frequently in medullary breast carcinoma than other histological types of basal like carcinomas.
      Title: Medullary Breast Carcinoma, a Triple-Negative Breast Cancer Associated with BCLG Overexpression.
    6. Data indicate that LRP6, BCL2L14, DUSP16, CREBL2, and CDKN1B were involed in centromeric (12p11.21-12p13.2) deletion in ETV6-RUNX1 B-cell precursor acute lymphoblastic leukemia (BCP-ALL).
      Title: Abnormalities of the der(12)t(12;21) in ETV6-RUNX1 acute lymphoblastic leukemia.
    7. Single nucleotide polymorphism in BCL2L14 is associated with lung cancer.
      Title: Multistage analysis of variants in the inflammation pathway and lung cancer risk in smokers.
    8. prior knockdown of Bcl-G expression ablates the stimulation of basal apoptosis by FAU, consistent with an essential downstream role for Bcl-G, itself a candidate tumour suppressor, in mediating the apoptosis regulatory role of FAU.
      Title: Candidate tumour suppressor Fau regulates apoptosis in human cells: an essential role for Bcl-G.
    9. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    10. Observational study of gene-disease association. (HuGE Navigator)
      Title: Germline variation in apoptosis pathway genes and risk of non-Hodgkin's lymphoma.
    Submit: New GeneRIF Correction See all GeneRIFs (17)

    Phenotypes

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

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in apoptotic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of extrinsic apoptotic signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in endomembrane system IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in intracellular organelle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    apoptosis facilitator Bcl-2-like protein 14
    Names
    BCL2-like 14 (apoptosis facilitator)
    apoptosis regulator BCL-G
    bcl2-L-14
    testicular tissue protein Li 26

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_029375.2 RefSeqGene

      Range
      26080..54836
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001370268.1 → NP_001357197.1  apoptosis facilitator Bcl-2-like protein 14 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC007537
      Consensus CDS
      CCDS8645.1
      UniProtKB/Swiss-Prot
      A8KAD0, Q96QR5, Q9BZR7, Q9BZR8
      UniProtKB/TrEMBL
      Q53F74
      Related
      ENSP00000467086.1, ENST00000589718.5
      Conserved Domains (1) summary
      cl02575
      Location:185 → 319
      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_001370269.1 → NP_001357198.1  apoptosis facilitator Bcl-2-like protein 14 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC007537
      Consensus CDS
      CCDS8645.1
      UniProtKB/Swiss-Prot
      A8KAD0, Q96QR5, Q9BZR7, Q9BZR8
      UniProtKB/TrEMBL
      Q53F74
      Conserved Domains (1) summary
      cl02575
      Location:185 → 319
      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 ...

    3. NM_030766.2 → NP_110393.1  apoptosis facilitator Bcl-2-like protein 14 isoform 2

      See identical proteins and their annotated locations for NP_110393.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) is also known as BCL-G short form. It contains an extra segment within the coding region, which results in a frameshift, when compared to variant 1. This variant encodes an isoform (2) that contains a shorter and distinct C terminus, as compared to isoform 1.
      Source sequence(s)
      AC007537, AF281255
      Consensus CDS
      CCDS8646.1
      UniProtKB/TrEMBL
      A0A140VJF2
      Related
      ENSP00000266434.4, ENST00000266434.8

    4. NM_138722.2 → NP_620048.1  apoptosis facilitator Bcl-2-like protein 14 isoform 1

      See identical proteins and their annotated locations for NP_620048.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) is also known as BCL-G long form. It encodes the longest isoform (1).
      Source sequence(s)
      AC007537, AF281254
      Consensus CDS
      CCDS8645.1
      UniProtKB/Swiss-Prot
      A8KAD0, Q96QR5, Q9BZR7, Q9BZR8
      UniProtKB/TrEMBL
      Q53F74
      Related
      ENSP00000379653.1, ENST00000396367.5
      Conserved Domains (1) summary
      cl02575
      Location:185 → 319
      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 ...

    5. NM_138723.2 → NP_620049.1  apoptosis facilitator Bcl-2-like protein 14 isoform 1

      See identical proteins and their annotated locations for NP_620049.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains a distinct 5' UTR region, and encodes the identical isoform (1), when compared to variant 1.
      Source sequence(s)
      AC007537, BC025778
      Consensus CDS
      CCDS8645.1
      UniProtKB/Swiss-Prot
      A8KAD0, Q96QR5, Q9BZR7, Q9BZR8
      UniProtKB/TrEMBL
      Q53F74
      Related
      ENSP00000309132.4, ENST00000308721.9
      Conserved Domains (1) summary
      cl02575
      Location:185 → 319
      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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      12049861..12099695
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_011332696.1 Reference GRCh38.p14 PATCHES

      Range
      18859..68693
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      11918992..11968813
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_138724.1: Suppressed sequence

      Description
      NM_138724.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BZR8.1 GenPept UniProtKB/Swiss-Prot:Q9BZR8

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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