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BAGE3 Gene

protein-coding   GIFtS: 28
GCID: GC21U900493

B Melanoma Antigen Family, Member 3

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
B Melanoma Antigen Family, Member 31 2     Member 31
Cancer/Testis Antigen 2.32 3     B Melanoma Antigen 32
CT2.32 3     Cancer/Testis Antigen Family 2, Member 32
Cancer/Testis Antigen Family 21     

External Ids:    HGNC: 157281   Entrez Gene: 853182   UniProtKB: Q86Y293   

Export aliases for BAGE3 gene to outside databases

Previous GC identifers: GC00U991012 GC21M010071 GC21M010044 GC21M010042 GC21M010997


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for BAGE3 Gene:
BAGE3 (B melanoma antigen family, member 3) is a protein-coding gene. Diseases associated with BAGE3 include holoprosencephaly, and melanoma.

UniProtKB/Swiss-Prot: BAGE3_HUMAN, Q86Y29
Function: Unknown. Candidate gene encoding tumor antigens




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the BAGE3 gene promoter:
         GR   RP58   Pax-5   AML1a   GR-beta   FOXO3   FOXO3b   Nkx6-1   FOXO3a   GR-alpha   
         Other transcription factors

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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BAGE3


Genomic Location:
Chromosome:21   

Entrez Gene cytogenetic band: 21p11.2   HGNC cytogenetic band: 21p11.2

GeneLoc information about chromosome 21        


(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: BAGE3_HUMAN, Q86Y29 (See protein sequence)
Recommended Name: B melanoma antigen 3 precursor  
Size: 109 amino acids; 12112 Da
Miscellaneous: The ancestral BAGE gene was generated by juxtacentromeric reshuffling of the KMT2C/MLL3 gene. The
BAGE family was expanded by juxtacentromeric movement and/or acrocentric exchanges. BAGE family is composed of
expressed genes that map to the juxtacentromeric regions of chromosomes 13 and 21 and of unexpressed gene
fragments that scattered in the juxtacentromeric regions of several chromosomes, including chromosomes 9, 13, 18
and 21

Explore the universe of human proteins at neXtProt for BAGE3: NX_Q86Y29

REFSEQ proteins: NP_872287.1  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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1 InterPro protein domain:
 IPR012530 BAGE

Graphical View of Domain Structure for InterPro Entry Q86Y29

ProtoNet protein and cluster: Q86Y29

1 Blocks protein domain: IPB012530 B melanoma antigen

UniProtKB/Swiss-Prot: BAGE3_HUMAN, Q86Y29
Similarity: Belongs to the BAGE family


BAGE3 for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: BAGE3_HUMAN, Q86Y29
Function: Unknown. Candidate gene encoding tumor antigens

Animal Models:

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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
BAGE3_HUMAN, Q86Y29: Secreted (Potential)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
nucleus5
cytosol2

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005576extracellular region IEA--

BAGE3 for ontologies           About GeneDecksing


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for BAGE3
Interactions:

    Search GeneGlobe Interaction Network for BAGE3

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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   Browse drugs & compounds from Enzo Life Sciences
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Browse Tocris compounds for BAGE3



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for BAGE3 gene: 
NM_182481.1  

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20 AceView cDNA sequences:

BC064647 NM_182482 CD359687 BG501498 AF218570 AF339514 NM_182481 H55516 
NM_181704 AF339516 AF339515 NM_182484 BG723950 BE084888 U19180 NM_001187 
AV750850 AI138404 BC037276 AU099705 

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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See probesets specificity/sensitivity at GeneAnnot
CGAP TAG: --

BAGE3 Protein expression data from MOPED1, PaxDb2 and MaxQB3 --

UniProtKB/Swiss-Prot: BAGE3_HUMAN, Q86Y29
Tissue specificity: Not expressed in normal tissues except in testis. Expressed in melanoma, bladder and lung
carcinomas

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In Situ
Assay Products:
 

 
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(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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  --

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for BAGE3 gene
4 SIMAP similar genes for BAGE3 using alignment to 1 protein entry:     BAGE3_HUMAN:
BAGE5    BAGE2    BAGE4    BAGE

BAGE3 for paralogs           About GeneDecksing



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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2 SNPs for BAGE3    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 21 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs98086471,2,4
----see VAR_0595882 mis40--------
rs27403271,2,4
----see VAR_0595872 mis40--------
Structural Variations
     Database of Genomic Variants (DGV) Selected variations for BAGE3 (see all 41):    About this table    
Variant IDTypeSubtypePubMed ID
esv2563009CNV Deletion19546169
dgv73n16CNV Deletion17901297
esv2661615CNV Deletion23128226
nsv436329CNV Deletion17901297
esv2474693CNV Deletion19546169
esv999403CNV Deletion20482838
esv2675165CNV Deletion23128226
nsv435743CNV Deletion17901297
esv1002199CNV Deletion20482838
esv987944CNV Deletion20482838

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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2 diseases for BAGE3:    
About MalaCards
holoprosencephaly    melanoma


BAGE3 for disorders           About GeneDecksing


Export disorders for BAGE3 gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for BAGE3 gene integrated from 10 sources:
(articles sorted by number of sources associating them with BAGE3)
    Utopia: connect your pdf to the dynamic
world of online information

  1. New BAGE (B melanoma antigen) genes mapping to the juxtacentromeric regions of human chromosomes 13 and 21 have a cancer/testis expression profile. (PubMed id 12461691)1, 2, 3 Ruault M....De Sario A. (Eur. J. Hum. Genet. 2002)
  2. BAGE genes generated by juxtacentromeric reshuffling in the hominidae lineage are under selective pressure. (PubMed id 12676563)1, 2 Ruault M.... De Sario A. (Genomics 2003)
  3. The diploid genome sequence of an individual human. (PubMed id 17803354)1 Levy S....Venter J.C. (PLoS Biol. 2007)
  4. Chromosome-wide mapping of estrogen receptor binding reveals long-range regulation requiring the forkhead protein FoxA1. (PubMed id 16009131)1 Carroll J.S....Brown M. (Cell 2005)
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  6. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  7. BAGE: a new gene encoding an antigen recognized on human melanomas by cytolytic T lymphocytes. (PubMed id 7895173)1 Boel P.... van der Bruggen P. (Immunity 1995)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 85318 HGNC: 15728 AceView: BAGE3 euGenes: HUgn85318 ECgene: BAGE3
H-InvDB: BAGE3

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for BAGE3 Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for BAGE3 Genetics and Cytogenetics in Oncology and Haematology

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for BAGE3 gene:
Search GeneIP for patents involving BAGE3

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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