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BCL2L12 BCL2 like 12 [ Homo sapiens (human) ]

Gene ID: 83596, updated on 24-Nov-2020

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
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

Genomic context

See BCL2L12 in Genome Data Viewer
Location:
19q13.33
Exon count:
7
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (49664834..49673916)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (50168399..50177173)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene RAS related Neighboring gene SR-related CTD associated factor 1 Neighboring gene interferon regulatory factor 3 Neighboring gene protein arginine methyltransferase 1 Neighboring gene microRNA 5088 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC120313, MGC120314, MGC120315

Gene Ontology Provided by GOA

Function Evidence Code Pubs
p53 binding IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
membrane HDA PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

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)

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_001040668.1NP_001035758.1  bcl-2-like protein 12 isoform 3

    See identical proteins and their annotated locations for NP_001035758.1

    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, BC007724, BC104004
    Consensus CDS
    CCDS46144.1
    UniProtKB/Swiss-Prot
    Q9HB09
    Related
    ENSP00000393803.1, ENST00000441864.6
    Conserved Domains (1) summary
    pfam15661
    Location:106259
    CF222; C6orf222, uncharacterized family
  2. NM_001282516.1NP_001269445.1  bcl-2-like protein 12 isoform 4

    See identical proteins and their annotated locations for NP_001269445.1

    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, BC007724, BC104004, FJ868798
    UniProtKB/Swiss-Prot
    Q9HB09
    UniProtKB/TrEMBL
    I6LJZ5
  3. NM_001282517.1NP_001269446.1  bcl-2-like protein 12 isoform 2

    See identical proteins and their annotated locations for NP_001269446.1

    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, BC007724, BC104004, FJ868799
    UniProtKB/Swiss-Prot
    Q9HB09
    UniProtKB/TrEMBL
    I6LJZ6
    Conserved Domains (1) summary
    cl02990
    Location:58126
    ASC; Amiloride-sensitive sodium channel
  4. NM_001282519.1NP_001269448.1  bcl-2-like protein 12 isoform 5

    See identical proteins and their annotated locations for NP_001269448.1

    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, BC007724, BC104004, FJ868802
    Consensus CDS
    CCDS74423.1
    UniProtKB/Swiss-Prot
    Q9HB09
    UniProtKB/TrEMBL
    I6LJZ7
    Related
    ENSP00000483272.1, 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/Swiss-Prot
    Q9HB09
    UniProtKB/TrEMBL
    I6LJZ8
  6. NM_001282521.1NP_001269450.1  bcl-2-like protein 12 isoform 7

    See identical proteins and their annotated locations for NP_001269450.1

    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, BC007724, BC104004, FJ911907
    Consensus CDS
    CCDS74424.1
    UniProtKB/Swiss-Prot
    Q9HB09
    UniProtKB/TrEMBL
    I6LJZ9
    Related
    ENSP00000482154.1, ENST00000614495.4
  7. NM_001385706.1NP_001372635.1  bcl-2-like protein 12 isoform 8

    Status: REVIEWED

    Source sequence(s)
    KR820282
  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
    CCDS12776.1
    Related
    ENSP00000246784.4, ENST00000246784.7

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 (13) 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
    Related
    ENST00000611631.4

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    49664834..49673916
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017027346.2XP_016882835.1  bcl-2-like protein 12 isoform X2

    UniProtKB/Swiss-Prot
    Q9HB09
    UniProtKB/TrEMBL
    I6LJZ6
    Conserved Domains (1) summary
    cl02990
    Location:58126
    ASC; Amiloride-sensitive sodium channel
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