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MAGED2 (MAGE family member D2)

Identity

Alias_namesmelanoma antigen family D2
Alias_symbol (synonym)JCL-1
BCG1
11B6
MAGE-D2
HCA10
MAGED
MGC8386
Other aliasBARTS5
BCG-1
HGNC (Hugo) MAGED2
LocusID (NCBI) 10916
Atlas_Id 41262
Location Xp11.21  [Link to chromosome band Xp11]
Location_base_pair Starts at 54809060 and ends at 54816015 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ACYP2 (2p16.2) / MAGED2 (Xp11.21)GBE1 (3p12.2) / MAGED2 (Xp11.21)INS-IGF2 (11p15.5) / MAGED2 (Xp11.21)
MAGED2 (Xp11.21) / HNRNPDL (4q21.22)MAGED2 (Xp11.21) / MAGED2 (Xp11.21)MAGED2 (Xp11.21) / MDH1 (2p15)
MAGED2 (Xp11.21) / MPHOSPH8 (13q12.11)MAGED2 (Xp11.21) / SCAMP4 (19p13.3)SLIT3 (5q34) / MAGED2 (Xp11.21)
MAGED2 Xp11.21 / MPHOSPH8 13q12.11MAGED2 Xp11.21 / SCAMP4 19p13.3

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(X;13)(p11;q12) MAGED2/MPHOSPH8
t(X;19)(p11;p13) MAGED2/SCAMP4

External links

Nomenclature
HGNC (Hugo)MAGED2   16353
Cards
Entrez_Gene (NCBI)MAGED2  10916  MAGE family member D2
Aliases11B6; BARTS5; BCG-1; BCG1; 
HCA10; MAGE-D2
GeneCards (Weizmann)MAGED2
Ensembl hg19 (Hinxton)ENSG00000102316 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000102316 [Gene_View]  ENSG00000102316 [Sequence]  chrX:54809060-54816015 [Contig_View]  MAGED2 [Vega]
ICGC DataPortalENSG00000102316
TCGA cBioPortalMAGED2
AceView (NCBI)MAGED2
Genatlas (Paris)MAGED2
WikiGenes10916
SOURCE (Princeton)MAGED2
Genetics Home Reference (NIH)MAGED2
Genomic and cartography
GoldenPath hg38 (UCSC)MAGED2  -     chrX:54809060-54816015 +  Xp11.21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MAGED2  -     Xp11.21   [Description]    (hg19-Feb_2009)
GoldenPathMAGED2 - Xp11.21 [CytoView hg19]  MAGED2 - Xp11.21 [CytoView hg38]
ImmunoBaseENSG00000102316
Mapping of homologs : NCBIMAGED2 [Mapview hg19]  MAGED2 [Mapview hg38]
OMIM300470   300971   
Gene and transcription
Genbank (Entrez)AF126181 AF128527 AF128528 AF148815 AF320907
RefSeq transcript (Entrez)NM_014599 NM_177433 NM_201222
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MAGED2
Cluster EST : UnigeneHs.522665 [ NCBI ]
CGAP (NCI)Hs.522665
Alternative Splicing GalleryENSG00000102316
Gene ExpressionMAGED2 [ NCBI-GEO ]   MAGED2 [ EBI - ARRAY_EXPRESS ]   MAGED2 [ SEEK ]   MAGED2 [ MEM ]
Gene Expression Viewer (FireBrowse)MAGED2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10916
GTEX Portal (Tissue expression)MAGED2
Human Protein AtlasENSG00000102316-MAGED2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UNF1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UNF1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UNF1
Splice isoforms : SwissVarQ9UNF1
PhosPhoSitePlusQ9UNF1
Domaine pattern : Prosite (Expaxy)MAGE (PS50838)   
Domains : Interpro (EBI)MAGE    MAGED2    MHD_dom   
Domain families : Pfam (Sanger)MAGE (PF01454)   
Domain families : Pfam (NCBI)pfam01454   
Domain families : Smart (EMBL)MAGE (SM01373)  
Conserved Domain (NCBI)MAGED2
DMDM Disease mutations10916
Blocks (Seattle)MAGED2
SuperfamilyQ9UNF1
Human Protein Atlas [tissue]ENSG00000102316-MAGED2 [tissue]
Peptide AtlasQ9UNF1
HPRD06630
IPIIPI00009542   IPI00337823   IPI00910470   IPI00910881   IPI00477809   IPI00549529   
Protein Interaction databases
DIP (DOE-UCLA)Q9UNF1
IntAct (EBI)Q9UNF1
FunCoupENSG00000102316
BioGRIDMAGED2
STRING (EMBL)MAGED2
ZODIACMAGED2
Ontologies - Pathways
QuickGOQ9UNF1
Ontology : AmiGOplatelet degranulation  protein binding  extracellular region  nucleus  nucleolus  cytosol  female pregnancy  membrane  platelet alpha granule lumen  renal sodium ion absorption  
Ontology : EGO-EBIplatelet degranulation  protein binding  extracellular region  nucleus  nucleolus  cytosol  female pregnancy  membrane  platelet alpha granule lumen  renal sodium ion absorption  
NDEx NetworkMAGED2
Atlas of Cancer Signalling NetworkMAGED2
Wikipedia pathwaysMAGED2
Orthology - Evolution
OrthoDB10916
GeneTree (enSembl)ENSG00000102316
Phylogenetic Trees/Animal Genes : TreeFamMAGED2
HOGENOMQ9UNF1
Homologs : HomoloGeneMAGED2
Homology/Alignments : Family Browser (UCSC)MAGED2
Gene fusions - Rearrangements
Fusion : MitelmanMAGED2/MPHOSPH8 [Xp11.21/13q12.11]  
Fusion : MitelmanMAGED2/SCAMP4 [Xp11.21/19p13.3]  [t(X;19)(p11;p13)]  
Fusion PortalMAGED2 Xp11.21 MPHOSPH8 13q12.11 BRCA
Fusion PortalMAGED2 Xp11.21 SCAMP4 19p13.3 PRAD
Fusion : QuiverMAGED2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMAGED2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MAGED2
dbVarMAGED2
ClinVarMAGED2
1000_GenomesMAGED2 
Exome Variant ServerMAGED2
ExAC (Exome Aggregation Consortium)ENSG00000102316
GNOMAD BrowserENSG00000102316
Varsome BrowserMAGED2
Genetic variants : HAPMAP10916
Genomic Variants (DGV)MAGED2 [DGVbeta]
DECIPHERMAGED2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMAGED2 
Mutations
ICGC Data PortalMAGED2 
TCGA Data PortalMAGED2 
Broad Tumor PortalMAGED2
OASIS PortalMAGED2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMAGED2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DMAGED2
Mutations and Diseases : HGMDMAGED2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)X-chromosome gene database
BioMutasearch MAGED2
DgiDB (Drug Gene Interaction Database)MAGED2
DoCM (Curated mutations)MAGED2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MAGED2 (select a term)
intoGenMAGED2
Cancer3DMAGED2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300470    300971   
Orphanet12437   
DisGeNETMAGED2
MedgenMAGED2
Genetic Testing Registry MAGED2
NextProtQ9UNF1 [Medical]
TSGene10916
GENETestsMAGED2
Target ValidationMAGED2
Huge Navigator MAGED2 [HugePedia]
snp3D : Map Gene to Disease10916
BioCentury BCIQMAGED2
ClinGenMAGED2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10916
Chemical/Pharm GKB GenePA30560
Clinical trialMAGED2
Miscellaneous
canSAR (ICR)MAGED2 (select the gene name)
DataMed IndexMAGED2
Probes
Litterature
PubMed71 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMAGED2
EVEXMAGED2
GoPubMedMAGED2
iHOPMAGED2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Nov 13 17:52:21 CET 2019
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