BCL2L12 BCL2 like 12 [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

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_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Bcl2 like protine-12 (Bcl2L12) facilitates experimental airway allergic inflammation by inducing autocrine eotaxin in eosinophils.
Title: Bcl2 like protine-12 (Bcl2L12) facilitates experimental airway allergic inflammation by inducing autocrine eotaxin in eosinophils.
MiR-24-3p attenuates IL-1beta-induced chondrocyte injury associated with osteoarthritis by targeting BCL2L12.
Title: MiR-24-3p attenuates IL-1β-induced chondrocyte injury associated with osteoarthritis by targeting BCL2L12.
Interaction between Ras and Bcl2L12 in B cells suppresses IL-10 expression.
Title: Interaction between Ras and Bcl2L12 in B cells suppresses IL-10 expression.
Identification of Two Novel Circular RNAs Deriving from BCL2L12 and Investigation of Their Potential Value as a Molecular Signature in Colorectal Cancer.
Title: Identification of Two Novel Circular RNAs Deriving from BCL2L12 and Investigation of Their Potential Value as a Molecular Signature in Colorectal Cancer.
The previously reported active promoter of BCL2L12 gene differs from the one we described in our study. If this novel BCL2L12 promoter is confirmed to be active in other malignancies, transcripts generated from this region could be considered as new cancer-specific biomarkers. The results of the study contribute to the better understanding of the transcriptional regulation of the BCL2L12 gene.
Title: Complex transcriptional regulation of the BCL2L12 gene: Novel, active promoter in K562 cells.
In this study, we explored co-delivery of a TRAIL expressing plasmid (pTRAIL) and complementary small interfering RNAs (siRNAs) (silencing Bcl2-like 12 [BCL2L12] and superoxide dismutase 1 [SOD1]) to improve the response of breast cancer cells against TRAIL therapy
Title: Breathing New Life into TRAIL for Breast Cancer Therapy: Co-Delivery of pTRAIL and Complementary siRNAs Using Lipopolymers.
BCL2L12 protein expression could be used as a favorable prognostic tissue biomarker in patients with primary advanced-stage LSCC. On the contrary, BCL2 and BAX did not correlate with prognosis in patients with primary LSCC.
Title: Positive BCL2L12 expression predicts favorable prognosis in patients with laryngeal squamous cell carcinoma.
Increased BCL2L12 v.4 mRNA expression was associated with markers of unfavorable prognosis namely, advanced tumor, ER- (p=0.015)/PR-, Ki-67-positivity and high NPI (Nottingham prognostic index) score
Title: BCL2L12: a multiply spliced gene with independent prognostic significance in breast cancer.
Bcl2L12 is positively correlated with Th2 cytokine levels in the nasal mucosa of chronic rhinosinusitis with accompanying nasal allergy (CRSa) patients. Bcl2L12 contributes to the Th2 polarization, which may be a novel therapeutic target in the treatment of CRSa.
Title: B cell lymphoma-2-like protein-12 association with T-helper 2 inflammation in chronic rhinosinusitis with allergy.
Bcl2L12 plays a crucial role in the induction of Th2 polarization and allergic response in the intestine. The Bcl2L12 in CD4(+) T cells may be a potential target for the treatment of food allergy.
Title: Bcl2L12 plays a critical role in the development of intestinal allergy.

Submit: New GeneRIF Correction See all GeneRIFs (47)

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)

HIV-1 interactions

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Replication interactions

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

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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

STS-H72005 (e-PCR)
- UniSTS:24135

RH18543 (e-PCR)
- UniSTS:63833

SGC33962 (e-PCR)
- UniSTS:59826

NoName (e-PCR)
- UniSTS:487127

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in inhibition of cysteine-type endopeptidase activity involved in apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in membrane	HDA more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: bcl-2-like protein 12

Names: BCL2-like 12 (proline rich); Bcl-2 related proline-rich protein

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)

NM_001040668.2 → NP_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
NM_001282516.2 → NP_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

Related

ENSP00000513796.1, ENST00000698554.1
NM_001282517.2 → NP_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
NM_001282519.2 → NP_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

Related

ENSP00000483272.2, ENST00000619007.4
NM_001282520.1 → NP_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
NM_001282521.2 → NP_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
NM_001385706.1 → NP_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
NM_138639.2 → NP_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

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
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
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
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
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
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