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    BCL2L12 BCL2 like 12 [ Homo sapiens (human) ]

    Gene ID: 83596, updated on 3-Dec-2024

    Summary

    Official Symbol
    BCL2L12provided by HGNC
    Official Full Name
    BCL2 like 12provided by HGNC
    Primary source
    HGNC:HGNC:13787
    See related
    Ensembl:ENSG00000126453 MIM:610837; AllianceGenome:HGNC:13787
    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
    Summary
    This gene encodes a member of a family of proteins containing a Bcl-2 homology domain 2 (BH2). The encoded protein is an anti-apoptotic factor that acts as an inhibitor of caspases 3 and 7 in the cytoplasm. In the nucleus, it binds to the p53 tumor suppressor protein, preventing its association with target genes. Overexpression of this gene has been detected in a number of different cancers. There is a pseudogene for this gene on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
    Expression
    Ubiquitous expression in lymph node (RPKM 7.1), spleen (RPKM 6.8) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See BCL2L12 in Genome Data Viewer
    Location:
    19q13.33
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (49665142..49673916)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (52665212..52673986)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (50168399..50177173)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:50139452-50140018 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:50143247-50143916 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:50143917-50144586 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:50144587-50145256 Neighboring gene RAS related Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10927 Neighboring gene SR-related CTD associated factor 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:50158945-50159720 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:50161341-50162044 Neighboring gene interferon regulatory factor 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10928 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10929 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:50175361-50175919 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14954 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:50180167-50180898 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:50184019-50184183 Neighboring gene protein arginine methyltransferase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10932 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10933 Neighboring gene microRNA 5088 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:50190450-50191191 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:50191192-50191932 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10934 Neighboring gene adrenomedullin 5 (putative)

    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?

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of BCL2-like 12 (BCL2L12) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General protein information

    Preferred Names
    bcl-2-like protein 12
    Names
    BCL2-like 12 (proline rich)
    Bcl-2 related proline-rich protein

    NCBI Reference Sequences (RefSeq)

    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.

    mRNA and Protein(s)

    1. NM_001040668.2NP_001035758.2  bcl-2-like protein 12 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
      Source sequence(s)
      AC011495
      Consensus CDS
      CCDS46144.2
      Related
      ENSP00000393803.2, ENST00000441864.6
    2. NM_001282516.2NP_001269445.2  bcl-2-like protein 12 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (4) is shorter than isoform 1.
      Source sequence(s)
      AC011495
      Consensus CDS
      CCDS92664.1
      UniProtKB/TrEMBL
      A0A0X8ASA9, A0A0X9JZX1
      Related
      ENSP00000513796.1, ENST00000698554.1
    3. NM_001282517.2NP_001269446.2  bcl-2-like protein 12 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks two coding exons, which results in a frameshift, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC011495
      Consensus CDS
      CCDS92666.1
      UniProtKB/TrEMBL
      M0R1K0
      Related
      ENSP00000469216.2, ENST00000594157.5
    4. NM_001282519.2NP_001269448.2  bcl-2-like protein 12 isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) uses an alternate splice site and lacks an alternate exon in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (5) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC011495
      Consensus CDS
      CCDS74423.2
      UniProtKB/TrEMBL
      A0A0X8AT42, A0A0X9JZX1
      Related
      ENSP00000483272.2, ENST00000619007.4
    5. NM_001282520.1NP_001269449.1  bcl-2-like protein 12 isoform 6

      See identical proteins and their annotated locations for NP_001269449.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10) lacks two alternate exons in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (6) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC011495, BC007724, BC104004, FJ911906
      UniProtKB/TrEMBL
      I6LJZ8, I6LJZ9
    6. NM_001282521.2NP_001269450.2  bcl-2-like protein 12 isoform 7

      Status: REVIEWED

      Description
      Transcript Variant: This variant (12) lacks three alternate coding exons, which results in a frameshift, compared to variant 1. The encoded isoform (7, also known as is.8) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC011495
    7. NM_001385706.1NP_001372635.1  bcl-2-like protein 12 isoform 8

      Status: REVIEWED

      Source sequence(s)
      KR820282
      Consensus CDS
      CCDS92665.1
      UniProtKB/TrEMBL
      A0A0X8AXX1, A0A0X9JZX1
      Related
      ENSP00000513799.1, ENST00000698557.1
    8. NM_138639.2NP_619580.2  bcl-2-like protein 12 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC011495, BC104006
      Consensus CDS
      CCDS12776.2
      UniProtKB/Swiss-Prot
      A0A087WSV0, Q3SY11, Q3SY13, Q96I96, Q9HB08, Q9HB09
      Related
      ENSP00000246784.4, ENST00000246784.8

    RNA

    1. NR_104200.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC011495, BC007724, BC104004, BI159786
    2. NR_104201.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) uses an alternate splice site at an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC011495, BC007724, BC104004, FJ868800
    3. NR_104202.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) lacks an exon and uses an alternate splice site at an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC011495, BC007724, BC104004, FJ868801
    4. NR_104203.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) lacks two exons and uses an alternate splice site at an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC011495, BC007724, BC104004, FJ868803
    5. NR_104204.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11) lacks three alternate internal exons, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region found in variant 1.
      Source sequence(s)
      AC011495, BC007724, BC104004, HM347053
    6. NR_104205.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (14) lacks four alternate internal exons, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region found in variant 1.
      Source sequence(s)
      AC011495, BC007724, BC104004, FJ911908

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      49665142..49673916
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      52665212..52673986
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)