Human Gene BAD (uc009ypk.2) Description and Page Index
  Description: Homo sapiens BCL2-associated agonist of cell death (BAD), transcript variant 2, mRNA.
RefSeq Summary (NM_032989): 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 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, Jul 2008].
Transcript (Including UTRs)
   Position: hg19 chr11:64,044,094-64,052,176 Size: 8,083 Total Exon Count: 3 Strand: -
Coding Region
   Position: hg19 chr11:64,044,346-64,051,840 Size: 7,495 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:64,044,094-64,052,176)mRNA (may differ from genome)Protein (118 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHuman Cortex Gene ExpressionLynxMGI
OMIMPubMedStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: A8MXU7_HUMAN
DESCRIPTION: SubName: Full=Bcl2 antagonist of cell death;
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): BAD
CDC HuGE Published Literature: BAD
Positive Disease Associations: Platelet Count
Related Studies:
  1. Platelet Count
    Rehan Qayyum et al. PLoS genetics 2012, A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans., PLoS genetics. [PubMed 22423221]

-  MalaCards Disease Associations
  MalaCards Gene Search: BAD
Diseases sorted by gene-association score: alzheimer disease mitochondrial (2), prostate cancer (2), adrenal cortical adenocarcinoma (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 27.00 RPKM in Brain - Cortex
Total median expression: 916.82 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -44.2082-0.539 Picture PostScript Text
3' UTR -84.80252-0.337 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR018868 - Bcl-2_BAD

Pfam Domains:
PF10514 - Pro-apoptotic Bcl-2 protein, BAD

ModBase Predicted Comparative 3D Structure on A8MXU7
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
 Gene Details    
 Gene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Biological Process:
GO:0006915 apoptotic process


-  Descriptions from all associated GenBank mRNAs
  LF385501 - JP 2014500723-A/193004: Polycomb-Associated Non-Coding RNAs.
U66879 - Homo sapiens Bcl-2 binding component 6 (bbc6) mRNA, complete cds.
AF021792 - Homo sapiens Bcl-X/Bcl-2 binding protein (BAD) mRNA, partial cds.
BC001901 - Homo sapiens BCL2-associated agonist of cell death, mRNA (cDNA clone MGC:2100 IMAGE:3537914), complete cds.
AK303051 - Homo sapiens cDNA FLJ61193 complete cds, highly similar to Bcl2 antagonist of cell death.
BC095431 - Homo sapiens BCL2-associated agonist of cell death, mRNA (cDNA clone MGC:111080 IMAGE:30377088), complete cds.
AK291863 - Homo sapiens cDNA FLJ75743 complete cds, highly similar to Homo sapiens BCL2-antagonist of cell death (BAD), transcript variant 1, mRNA.
AF031523 - Homo sapiens bcl-xL/bcl-2 associated death promoter (BAD) mRNA, complete cds.
CR541935 - Homo sapiens full open reading frame cDNA clone RZPDo834A0634D for gene BAD, BCL2-antagonist of cell death; complete cds, incl. stopcodon.
KJ890752 - Synthetic construct Homo sapiens clone ccsbBroadEn_00146 BAD gene, encodes complete protein.
AB451254 - Homo sapiens BAD mRNA for BCL2-antagonist of cell death protein, complete cds, clone: FLJ08066AAAN.
BT006678 - Homo sapiens BCL2-antagonist of cell death mRNA, complete cds.
DQ895784 - Synthetic construct Homo sapiens clone IMAGE:100010244; FLH187627.01L; RZPDo839B06149D BCL2-antagonist of cell death (BAD) gene, encodes complete protein.
AB451378 - Homo sapiens BAD mRNA for BCL2-antagonist of cell death protein, partial cds, clone: FLJ08066AAAF.
CR541959 - Homo sapiens full open reading frame cDNA clone RZPDo834G0534D for gene BAD, BCL2-antagonist of cell death; complete cds, without stopcodon.
AB463436 - Synthetic construct DNA, clone: pF1KB8229, Homo sapiens BAD gene for BCL2-antagonist of cell death, without stop codon, in Flexi system.
EU176363 - Synthetic construct Homo sapiens clone IMAGE:100006468; FLH187634.01X; RZPDo839C11251D BCL2-antagonist of cell death (BAD) gene, encodes complete protein.
CU674924 - Synthetic construct Homo sapiens gateway clone IMAGE:100017955 5' read BAD mRNA.
AK309150 - Homo sapiens cDNA, FLJ99191.
JD513001 - Sequence 494025 from Patent EP1572962.
JD211177 - Sequence 192201 from Patent EP1572962.
JD472111 - Sequence 453135 from Patent EP1572962.
MA621078 - JP 2018138019-A/193004: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04012 - ErbB signaling pathway
hsa04210 - Apoptosis
hsa04370 - VEGF signaling pathway
hsa04510 - Focal adhesion
hsa04722 - Neurotrophin signaling pathway
hsa04910 - Insulin signaling pathway
hsa05010 - Alzheimer's disease
hsa05014 - Amyotrophic lateral sclerosis (ALS)
hsa05200 - Pathways in cancer
hsa05210 - Colorectal cancer
hsa05212 - Pancreatic cancer
hsa05213 - Endometrial cancer
hsa05215 - Prostate cancer
hsa05218 - Melanoma
hsa05220 - Chronic myeloid leukemia
hsa05221 - Acute myeloid leukemia
hsa05223 - Non-small cell lung cancer

BioCarta from NCI Cancer Genome Anatomy Project
h_achPathway - Role of nicotinic acetylcholine receptors in the regulation of apoptosis
h_aktPathway - AKT Signaling Pathway
h_gleevecpathway - Inhibition of Cellular Proliferation by Gleevec
h_igf1rPathway - Multiple antiapoptotic pathways from IGF-1R signaling lead to BAD phosphorylation
h_ptdinsPathway - Phosphoinositides and their downstream targets.
h_rasPathway - Ras Signaling Pathway
h_ceramidePathway - Ceramide Signaling Pathway
h_chemicalPathway - Apoptotic Signaling in Response to DNA Damage
h_tffPathway - Trefoil Factors Initiate Mucosal Healing
h_il2rbPathway - IL-2 Receptor Beta Chain in T cell Activation
h_badPathway - Regulation of BAD phosphorylation

-  Other Names for This Gene
  Alternate Gene Symbols: A8MXU7, A8MXU7_HUMAN, AK309150, NM_032989, NP_116784
UCSC ID: uc009ypk.2
RefSeq Accession: NM_032989
Protein: A8MXU7

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AK309150.1
exon count: 3CDS single in 3' UTR: no RNA size: 1195
ORF size: 357CDS single in intron: no Alignment % ID: 99.67
txCdsPredict score: 914.00frame shift in genome: no % Coverage: 57.82
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.