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MAGEB17 Gene

protein-coding   GIFtS: 28
GCID: GC0XP016183

Melanoma Antigen Family B, 17

(Previous names: melanoma antigen family B, 17 (pseudogene))
  See related disease
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
Melanoma Antigen Family B, 171 2
Melanoma Antigen Family B, 17 (Pseudogene)1 2
Melanoma-Associated Antigen B172

External Ids:    HGNC: 174181   Entrez Gene: 6458642   Ensembl: ENSG000001827987   OMIM: 3007635   UniProtKB: A8MXT23   

Export aliases for MAGEB17 gene to outside databases

Previous GC identifers: GC0XM015945 GC0XU900743 GC0XP016095 GC0XP013939


(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 MAGEB17 Gene:
MAGEB17 (melanoma antigen family B, 17) is a protein-coding gene. Diseases associated with MAGEB17 include melanoma. An important paralog of this gene is MAGEC2.


(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 MAGEB17 gene promoter:
         HFH-3   STAT1   FOXI1   AREB6   FOXJ2 (long isoform)   HOXA5   FOXJ2   ATF6   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for MAGEB17

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MAGEB17


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

Entrez Gene cytogenetic band: Xp22.2   Ensembl cytogenetic band:  Xp22.2   HGNC cytogenetic band: Xp22.2

MAGEB17 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MAGEB17 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP016183:  view genomic region     (about GC identifiers)

Start:
16,185,604 bp from pter      End:
16,189,587 bp from pter
Size:
3,984 bases      Orientation:
plus strand

(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: MAGBH_HUMAN, A8MXT2 (See protein sequence)
Recommended Name: Melanoma-associated antigen B17  
Size: 457 amino acids; 51128 Da
Caution: Formerly thought to be the product of a pseudogene, although could be a bona fide protein. However,
scarce EST evidence confirms only the C-terminal sequence. The N-terminal sequence is based on a computational
prediction and so it is uncertain whether Met-1 or Met-122 is the initiator
Secondary accessions: A6NE98

Explore the universe of human proteins at neXtProt for MAGEB17: NX_A8MXT2

Explore proteomics data for MAGEB17 at MOPED


See MAGEB17 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_001264236.1  
ENSEMBL proteins: 
 ENSP00000382884   ENSP00000382883   ENSP00000328274  

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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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2 InterPro protein domains:
 IPR021072 Melanoma_ass_antigen_N
 IPR002190 MAGE

Graphical View of Domain Structure for InterPro Entry A8MXT2

ProtoNet protein and cluster: A8MXT2

UniProtKB/Swiss-Prot: MAGBH_HUMAN, A8MXT2
Similarity: Contains 1 MAGE domain


MAGEB17 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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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 COMPARTMENTS: 

CompartmentConfidence
nucleus3
cytosol1
endoplasmic reticulum1
mitochondrion1
plasma membrane1

(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 MAGEB17
Interactions:

    Search GeneGlobe Interaction Network for MAGEB17

(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 Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for MAGEB17 (MAGBH)



(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 MAGEB17 gene: 
NM_001277307.1  

3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000400004 ENST00000400003 ENST00000329538
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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™, 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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MAGEB17 expression in normal human tissues (normalized intensities)      MAGEB17 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
MAGEB17 Expression
About this image


MAGEB17 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 2) fully expand
 
 Adipose (Muscoskeletal System)
         Mesenchymal Stem Cells Subcutaneous White Adipose
 
 Mesenchymal Stem Cells
         Mesenchymal Stem Cells Subcutaneous White Adipose
MAGEB17 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

MAGEB17 Protein Expression
    Custom PCR Arrays for MAGEB17
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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)
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This gene was present in the common ancestor of human and mouse.

Orthologs for MAGEB17 gene from Selected species (see all 4)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Mageb55
Gm50721
melanoma antigen, family B, 55
predicted gene 50721
61.24(n)1
46.1(a)1
  X (40.50 cM)5
2781671  NM_001114678.11  NP_001108150.11 
 917795445 


ENSEMBL Gene Tree for MAGEB17 (if available)
TreeFam Gene Tree for MAGEB17 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for MAGEB17 gene
MAGEC22  MAGEA9B2  MAGEB52  MAGEB162  MAGEB12  MAGEB42  MAGEC12  MAGED42  
MAGEA82  MAGED22  MAGEA122  MAGEA92  MAGEB102  MAGEA62  MAGED12  MAGEA22  
MAGEA32  MAGEB22  NDN2  MAGEB32  MAGED4B2  MAGEA42  MAGEA12  MAGEA102  
MAGEB182  MAGEA2B2  MAGEB62  MAGEL22  TRO2  MAGEA112  NDNL22  MAGEF12  
Selected SIMAP similar genes for MAGEB17 using alignment to 1 protein entry:     MAGBH_HUMAN(see all similar genes):
MAGE-B1    MAGEB1    MAGEB2    MAGEC4    MAGEB3    MAGEB4
MAGEC1    MAGEB10    MAGEB18    MAGEH1    MAGEB5    MAGEC2
MAGEE1    MAGEA9    MAGEA9B    MAGEB16    MAGEA1    MAGEA8

MAGEB17 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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Selected SNPs for MAGEB17 (see all 90)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr X posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1391116581,2
C--16098882(+) GGAACC/TATGAC 1 -- us2k10--------
rs1864286581,2
C--16098900(+) CCTGTA/GGTCAA 1 -- us2k10--------
rs1440928231,2
--16098966(+) TTGTCA/TTAGGG 1 -- us2k10--------
rs125592211,2
C,F,A,H--16098990(+) AGGAAG/ACATGA 1 -- us2k19Minor allele frequency- A:0.20NS EA WA NA CSA 431
rs125572361,2
C,F,A,H--16099006(+) GCTGGT/CGAATG 1 -- us2k113Minor allele frequency- C:0.25NS EA NA WA CSA 562
rs732046081,2
--16099017(+) CCATGA/GTAAGA 1 -- us2k10--------
rs758911521,2
C--16099073(+) TTTTT-/T/TTT 
        
CTTGA
2 -- us2k1 cds10--------
rs1448973991,2
--16099101(+) TCGCCC/TATGCT 1 -- us2k10--------
rs1451657901,2
--16099112(+) GGAGTA/GCAGTG 1 -- us2k10--------
rs1491324251,2
--16099151(+) CCTCCC/TGGGTT 1 -- us2k10--------

HapMap Linkage Disequilibrium report for MAGEB17 (16185604 - 16189587 bp)

Structural Variations
      Database of Genomic Variants (DGV) variations for MAGEB17: --
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing MAGEB17
DNA2.0 Custom Variant and Variant Library Synthesis for MAGEB17

(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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OMIM gene information: 300763    OMIM disorders: --

1 disease for MAGEB17:    About MalaCards
melanoma


MAGEB17 for disorders           About GeneDecksing

Genetic Association Database (GAD): MAGEB17

Export disorders for MAGEB17 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 MAGEB17 gene integrated from 10 sources:
(articles sorted by number of sources associating them with MAGEB17)
    Utopia: connect your pdf to the dynamic
world of online information

  1. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (Nature 2005)
  2. An overview of the MAGE gene family with the identification of all human members of the family. (PubMed id 11454705)1, 3 Chomez P.... Lucas S. (Cancer Res. 2001)

(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: 645864 HGNC: 17418 Ensembl:ENSG00000182798 euGenes: HUgn645864 ECgene: MAGEB17
H-InvDB: MAGEB17

(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 MAGEB17 Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for MAGEB17 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 MAGEB17 gene:
Search GeneIP for patents involving MAGEB17

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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