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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

BAGE2 Gene

protein-coding   GIFtS: 34
GCID: GC21M010996

B Melanoma Antigen Family, Member 2

  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)
About This Section

Aliases
B Melanoma Antigen Family, Member 21 2     Member 21
Cancer/Testis Antigen 2.22 3     B Melanoma Antigen 22
CT2.22 3     Cancer/Testis Antigen Family 2, Member 22
Cancer/Testis Antigen Family 21     

External Ids:    HGNC: 157231   Entrez Gene: 853192   Ensembl: ENSG000001871727   UniProtKB: Q86Y303   

Export aliases for BAGE2 gene to outside databases

Previous GC identifers: GC21U990099 GC21M010043 GC21M010072


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for BAGE2 Gene: 
BAGE2 (B melanoma antigen family, member 2) is a protein-coding gene. Diseases associated with BAGE2 include melanoma, and down syndrome.

UniProtKB/Swiss-Prot: BAGE2_HUMAN, Q86Y30
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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for BAGE2
         Other transcription factors

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Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BAGE2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 21p   Ensembl cytogenetic band:  21p11.1   HGNC cytogenetic band: 21p

BAGE2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BAGE2 gene location

GeneLoc information about chromosome 21         GeneLoc Exon Structure

GeneLoc location for GC21M010996:  view genomic region     (about GC identifiers)

Start:
10,996,026 bp from pter      End:
11,098,980 bp from pter
Size:
102,955 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: BAGE2_HUMAN, Q86Y30 (See protein sequence)
Recommended Name: B melanoma antigen 2 precursor  
Size: 109 amino acids; 12114 Da
Subcellular location: Secreted (Potential)
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
Secondary accessions: A8K925 Q08ER0

Explore the universe of human proteins at neXtProt for BAGE2: NX_Q86Y30

BAGE2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 : --

REFSEQ proteins: NP_872288.2  
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Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

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

BAGE2 for ontologies           About GeneDecksing



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

Graphical View of Domain Structure for InterPro Entry Q86Y30

ProtoNet protein and cluster: Q86Y30

1 Blocks protein domain: IPB012530 B melanoma antigen

UniProtKB/Swiss-Prot: BAGE2_HUMAN, Q86Y30
Similarity: Belongs to the BAGE family


BAGE2 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,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

     UniProtKB/Swiss-Prot Summary: BAGE2_HUMAN, Q86Y30
Function: Unknown. Candidate gene encoding tumor antigens

Animal Models:

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(Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
About This Section



Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for BAGE2

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
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Search CenterWatch for drugs/clinical trials and news about BAGE2

(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,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for BAGE2 gene: 
NM_182482.2  

3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000496773 ENST00000470054(uc002yit.1 uc002yiu.1 uc002yiv.1)
ENST00000474011(uc002yix.2)
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GeneLoc Exon Structure


(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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

BAGE2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
BAGE2 Expression
About this image


Genevestigator expression for BAGE2

UniProtKB/Swiss-Prot: BAGE2_HUMAN, Q86Y30
Tissue specificity: Not expressed in normal tissues except in testis. Expressed in 22% of melanomas, in bladder
and lung carcinomas

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In Situ
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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)
About This Section
  --

ENSEMBL Gene Tree for BAGE2 (if available)
TreeFam Gene Tree for BAGE2 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for BAGE2 gene
4 SIMAP similar genes for BAGE2 using alignment to 2 protein entries:     BAGE2_HUMAN (see all proteins):
BAGE5    BAGE3    BAGE4    BAGE

BAGE2 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/5783 SNPs in BAGE2 are shown (see all 5783)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 21 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1447333291,2
Cuntested111079444(+) TCACTG/TACATA 1 -- int10--------
rs2074777431,2
Cuntested111096467(+) CCAAAG/TTACTG 1 -- int10--------
rs738915361,2
C,Funtested111098732(+) CCGGCC/TGCCAT 1 -- ut514Minor allele frequency- T:0.50WA NA 12
rs1899387351,2
C--11020400(+) AAAATC/GTCATT 1 -- ds50010--------
rs1997630471,2
C--11020459(+) TAGGCC/TAATAA 1 -- ds50010--------
rs1473847221,2
C--11020521(+) AATCAC/GCTAAA 1 -- ds50010--------
rs2018988481,2
C--11020609(+) AAAGCA/GGGATA 1 -- ds50010--------
rs561141961,2
C--11020706(+) ACATAC/TGTTTA 1 -- ds50010--------
rs2000211531,2
F--11020738(+) GAGAAC/TTGGGA 1 -- ds50011Minor allele frequency- T:0.01EU 591
rs99818961,2
C,A--11020740(+) GAACTG/AGGAGC 1 -- ds50011Minor allele frequency- A:0.00NA 2

HapMap Linkage Disequilibrium report for BAGE2 (10996026 - 11098980 bp)

Structural Variations
     Database of Genomic Variants (DGV) 10/41 variations for BAGE2 (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.)
About This Section
2 diseases for BAGE2:    About MalaCards
melanoma    down syndrome


BAGE2 for disorders           About GeneDecksing


Export disorders for BAGE2 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)
About This Section

PubMed articles for BAGE2 gene integrated from 9 sources:
(articles sorted by number of sources associating them with BAGE2)
    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. (2002)
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
  3. BAGE genes generated by juxtacentromeric reshuffling in the Hominidae lineage are under selective pressure. (PubMed id 12676563)1, 2 Ruault M....De Sario A. (2003)
  4. Juxtacentromeric region of human chromosome 21: a boundary between centromeric heterochromatin and euchromatic chromosome arms. (PubMed id 12909339)1, 9 Brun M.-E.... De Sario A. (2003)
  5. Gene dosage change of TPTE and BAGE2 and breakpoint analysis in Robertsonian Down syndrome. (PubMed id 18074101)1 Shaw S.W....Hsieh F.J. (2008)
  6. The diploid genome sequence of an individual human. (PubMed id 17803354)1 Levy S....Venter J.C. (2007)
  7. Mapping of the juxtacentromeric heterochromatin-euchromatin frontier of human chromosome 21. (PubMed id 16963709)1 Grunau C....De Sario A. (2006)
  8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
  9. 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. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 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)
About This Section
Entrez Gene: 85319 HGNC: 15723 Ensembl:ENSG00000187172 euGenes: HUgn85319 ECgene: BAGE2
H-InvDB: BAGE2

(According to HUGE)
About This Section
  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
NameDescription
PharmGKB entry for BAGE2 Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for BAGE2 Genetics and Cytogenetics in Oncology and Haematology

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for BAGE2 gene:
Search GeneIP for patents involving BAGE2

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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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 lentivirus for stable overexpression of BAGE2
 lentivirus expression plasmids for stable overexpression of BAGE2
 adenovirus for overexpression of BAGE2
 LSBio Antibodies in human, mouse, rat for BAGE2
Customized transgenic rodents for:
 Humanization
 Biomarker expression
 Off-target effect monitoring
 Translational medicine
 Tissue-specific gene expresssion
 Time-controlled gene expresssion
       
GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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