BAD BCL2 associated agonist of cell death [Homo sapiens (human)] - Gene

Summary

Official Symbol: BADprovided by HGNC
Official Full Name: BCL2 associated agonist of cell deathprovided by HGNC
Primary source: HGNC:HGNC:936
See related: Ensembl:ENSG00000002330 MIM:603167; AllianceGenome:HGNC:936
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: BBC2; BCL2L8
Summary: The protein encoded by this gene is a member of the BCL-2 family. BCL-2 family members are known to be regulators of programmed cell death. This protein positively regulates cell apoptosis by forming heterodimers with BCL-xL (B-cell lymphoma-extra large) and BCL-2, and reversing their death repressor activity. Proapoptotic activity of this protein is regulated through its phosphorylation. Protein kinases AKT and MAP kinase, as well as protein phosphatase calcineurin were found to be involved in the regulation of this protein. Alternative splicing of this gene results in two transcript variants which encode the same isoform. [provided by RefSeq, Dec 2019]
Expression: Ubiquitous expression in colon (RPKM 20.0), fat (RPKM 18.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q13.1

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (64269828..64284704, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (64259856..64274668, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (64037300..64052176, complement)

Chromosome 11 - NC_000011.10 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?

AMPK/mTOR/p70S6K axis prevents apoptosis of Porphyromonas gingivalis-infected gingival epithelial cells via Bad[Ser136] phosphorylation.
Title: AMPK/mTOR/p70S6K axis prevents apoptosis of Porphyromonas gingivalis-infected gingival epithelial cells via Bad(Ser136) phosphorylation.
mTOR inhibition overcomes RSK3-mediated resistance to BET inhibitors in small cell lung cancer.
Title: mTOR inhibition overcomes RSK3-mediated resistance to BET inhibitors in small cell lung cancer.
Difference in the binding mechanisms of ABT-263/43b with Bcl-xL/Bcl-2: computational perspective on the accurate binding free energy analysis.
Title: Difference in the binding mechanisms of ABT-263/43b with Bcl-xL/Bcl-2: computational perspective on the accurate binding free energy analysis.
Hypertonicity counteracts MCL-1 and renders BCL-XL a synthetic lethal target in head and neck cancer.
Title: Hypertonicity counteracts MCL-1 and renders BCL-XL a synthetic lethal target in head and neck cancer.
Vanillic acid mitigates the impairments in glucose metabolism in HepG2 cells through BAD-GK interaction during hyperinsulinemia.
Title: Vanillic acid mitigates the impairments in glucose metabolism in HepG2 cells through BAD-GK interaction during hyperinsulinemia.
BAD regulates mammary gland morphogenesis by 4E-BP1-mediated control of localized translation in mouse and human models.
Title: BAD regulates mammary gland morphogenesis by 4E-BP1-mediated control of localized translation in mouse and human models.
Multiple signaling pathways converge on proapoptotic protein BAD to promote survival of melanocytes.
Title: Multiple signaling pathways converge on proapoptotic protein BAD to promote survival of melanocytes.
EGFR-independent EGFR-mutant lung adenocarcinoma cells depend on Bcl-xL and MCL1 for survival.
Title: EGFR-independent EGFR-mutant lung adenocarcinoma cells depend on Bcl-xL and MCL1 for survival.
BAD inactivation exacerbates rheumatoid arthritis pathology by promoting survival of sublining macrophages.
Title: BAD inactivation exacerbates rheumatoid arthritis pathology by promoting survival of sublining macrophages.
The anti-apoptotic proteins Bcl-2 and Bcl-xL suppress Beclin 1/Atg6-mediated lethal autophagy in polyploid cells.
Title: The anti-apoptotic proteins Bcl-2 and Bcl-xL suppress Beclin 1/Atg6-mediated lethal autophagy in polyploid cells.

Submit: New GeneRIF Correction See all GeneRIFs (170)

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

EBI GWAS Catalog

Description
A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans. EBI GWAS Catalog EBI GWAS CatalogPubMed
A novel sarcoidosis risk locus for Europeans on chromosome 11q13.1. EBI GWAS Catalog EBI GWAS CatalogPubMed

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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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	Treatment of cells with dsRNA against 14-3-3tau enhances gp120-mediated dephosphorylation of Bad and its association with Bcl-XL in mitochondria, and accelerates gp120-induced apoptosis	PubMed
	env	Binding of gp120 to CXCR4 induces cell apoptosis through decreased binding of 14-3-3tau to the pro-apoptotic molecule, Bad. Suppression of Bad by RNAi rescues cells from apoptosis triggered by HIV-1 gp120	PubMed
	env	PDGF protects neurons from gp120-induced cytotoxicity through an increased phosphorylation of both GSK-3beta and Bad, the downregulation of the proapoptotic protein Bax, and inhibition of gp120-induced release of mitochondrial cytochrome C	PubMed
Envelope surface glycoprotein gp160, precursor	env	Treatment of CD4+ cells with HIV-1 gp160 causes intracellular calcium increase followed by the release of cytochrome c from mitochondria; association of BAD with Bcl-xL is observed, and a portion of BAD is dephosphorylated after gp160 induction	PubMed
Nef	nef	HIV-1 Nef-associated p21-activated kinase (PAK), which is activated by Nef, phosphorylates BCL2-antagonist of cell death (BAD) leading to induction of anti-apoptotic signals	PubMed
Tat	tat	HIV-1 Tat induces phosphorylation of BAD in Tat-expressing cells and HIV-1-infected cells	PubMed
	tat	HIV-1 Tat enhances phosphorylation of BAD in vincristine-treated Kaposi's sarcoma cells, an effect that contributes to the anti-apoptotic effect of Tat in these cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D8S2279 (e-PCR)
- UniSTS:473907

PMC230316P4 (e-PCR)
- UniSTS:272182

RH78541 (e-PCR)
- UniSTS:66632

RH80230 (e-PCR)
- UniSTS:87698

SHGC-64070 (e-PCR)
- UniSTS:76204

RH27709 (e-PCR)
- UniSTS:90028

RH80521 (e-PCR)
- UniSTS:83919

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cysteine-type endopeptidase activator activity involved in apoptotic process	IBA Inferred from Biological aspect of Ancestor more info
enables cysteine-type endopeptidase activator activity involved in apoptotic process	IDA Inferred from Direct Assay more info	PubMed
enables lipid binding	IDA Inferred from Direct Assay more info	PubMed
enables phospholipid binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein phosphatase binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in ADP metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in ATP metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in activation of cysteine-type endopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in activation of cysteine-type endopeptidase activity involved in apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in apoptotic process	TAS Traceable Author Statement more info	PubMed
involved_in cellular response to hypoxia	IEP Inferred from Expression Pattern more info	PubMed
involved_in cellular response to lipid	IEA Inferred from Electronic Annotation more info
involved_in cellular response to mechanical stimulus	IEP Inferred from Expression Pattern more info	PubMed
involved_in cellular response to nicotine	IDA Inferred from Direct Assay more info	PubMed
involved_in cytokine-mediated signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in extrinsic apoptotic signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in extrinsic apoptotic signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in extrinsic apoptotic signaling pathway in absence of ligand	IEA Inferred from Electronic Annotation more info
involved_in extrinsic apoptotic signaling pathway via death domain receptors	IEA Inferred from Electronic Annotation more info
involved_in glucose catabolic process	IEA Inferred from Electronic Annotation more info
involved_in glucose homeostasis	ISS Inferred from Sequence or Structural Similarity more info
involved_in intrinsic apoptotic signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in intrinsic apoptotic signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intrinsic apoptotic signaling pathway in response to DNA damage	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in pore complex assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of B cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of T cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of apoptotic process	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of autophagy	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of epithelial cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of insulin secretion	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of insulin secretion involved in cellular response to glucose stimulus	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of intrinsic apoptotic signaling pathway in response to osmotic stress	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of mitochondrial membrane potential	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of proteolysis	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of release of cytochrome c from mitochondria	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of type B pancreatic cell development	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of mitochondrial membrane permeability	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of mitochondrial membrane permeability	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in release of cytochrome c from mitochondria	IBA Inferred from Biological aspect of Ancestor more info
involved_in type B pancreatic cell proliferation	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
part_of BAD-BCL-2 complex	IPI Inferred from Physical Interaction more info	PubMed
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in mitochondrial outer membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial outer membrane	TAS Traceable Author Statement more info
located_in mitochondrion	HTP more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: bcl2-associated agonist of cell death

Names: BCL-X/BCL-2 binding protein; BCL2-antagonist of cell death protein; BCL2-binding component 6; BCL2-binding protein; bcl-2-binding component 6; bcl-2-like protein 8; bcl-XL/Bcl-2-associated death promoter; bcl2 antagonist of cell death; bcl2-L-8

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_004322.3 → NP_004313.1 bcl2-associated agonist of cell death

See identical proteins and their annotated locations for NP_004313.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.

Source sequence(s)

AK291863, AW014069, BC001901, BE255791, BG435829

Consensus CDS

CCDS8065.1

UniProtKB/Swiss-Prot

O14803, Q6FH21, Q92934

UniProtKB/TrEMBL

B4DZQ9

Related

ENSP00000378040.3, ENST00000394532.7

Conserved Domains (1) summary

pfam10514
Location:1 → 168

Bcl-2_BAD; Pro-apoptotic Bcl-2 protein, BAD
NM_032989.3 → NP_116784.1 bcl2-associated agonist of cell death

See identical proteins and their annotated locations for NP_116784.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.

Source sequence(s)

AK291863, AW014069

Consensus CDS

CCDS8065.1

UniProtKB/Swiss-Prot

O14803, Q6FH21, Q92934

UniProtKB/TrEMBL

B4DZQ9

Related

ENSP00000309103.3, ENST00000309032.8

Conserved Domains (1) summary

pfam10514
Location:1 → 168

Bcl-2_BAD; Pro-apoptotic Bcl-2 protein, BAD