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

BAGE2 Gene

protein-coding   GIFtS: 33
GCID: GC21M010996

B melanoma antigen family, member 2

 Explore 4 diseases affiliated with
BAGE2 via our new
 Human Malady Compendium 
Biological research products
for BAGE2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

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

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

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 69), 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 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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 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 MOPED and PaxDb: --

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 InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

BAGE2 for domains           About GeneDecksing

1 InterPro domain/family:
 IPR012530 BAGE

Graphical View of Domain Structure for InterPro Entry Q86Y30

ProtoNet protein and cluster: Q86Y30

1 Blocks protein family: IPB012530 B melanoma antigen

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


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

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

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(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 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, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
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Browse Tocris compounds for BAGE2
Search CenterWatch for drugs/clinical trials and news about BAGE2 

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
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, 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
CGAP TAG: --

Microarray
RNAseq (Illumina Body Map)
(100×FPKM)½
SAGE (Serial Analysis of Gene 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
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BAGE2

(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
  --

(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

10/5511 NCBI SNPs in BAGE2 are shown (see all 5511    About this table
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 21 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1447333291,2
Cunknown11079444(+) TCACTG/TACATA 1 -- int10--------
rs738915361,2
C,Fother11098732(+) CCGGCC/TGCCAT 1 -- ut514Minor allele frequency- T:0.50WA NA 12
rs81325831,2
C,F--11020436(+) AGAGAA/CTGCGG 1 -- ds50012Minor allele frequency- C:0.20NA 10
rs81283101,2
C,F--11020442(+) TGCGGG/TAAAGA 1 -- ds50012Minor allele frequency- T:0.40NA 10
rs81325941,2
C,F--11020455(+) AGAATA/G/TGGCTA 1 -- ds50012NA 10
rs81294721,2
C,F,A--11020456(+) GAATAG/AGCTAA 1 -- ds50012Minor allele frequency- A:0.20NA 10
rs286579471,2
C,F--11020459(+) TAGGCC/TAATAA 1 -- ds50012Minor allele frequency- T:0.50NA 10
rs285678061,2
C,F--11020521(+) AATCAG/CCTAAA 1 -- ds50013Minor allele frequency- C:0.50NA CSA 12
rs2404371,2
O--11020653(-) TATCTC/GAAGAA 1 -- ds50010--------
rs561141961,2
C--11020706(+) ACATAC/TGTTTA 1 -- ds50010--------

HapMap Linkage Disequilibrium report for BAGE2 (10996026 - 11098980 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 27 variations for BAGE2
     15/26 CNVs (see all 26): 23086 79305 61955 59034 23321 35942 73597 3224 22515 32434 7328 22855 90682 73600 5156
     1 Indel: 40470

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

BAGE2 for disorders           About GeneDecksing

4 diseases for BAGE2:    About MalaCards
melanoma    down syndrome    lung carcinoma    carcinoma


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
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(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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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),
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