Atlas of Genetics and Cytogenetics in Oncology and Haematology


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MXD1 (MAX dimerization protein 1)

Identity

Alias_namesMAD
Alias_symbol (synonym)MAD1
bHLHc58
Other aliasBHLHC58
HGNC (Hugo) MXD1
LocusID (NCBI) 4084
Atlas_Id 214
Location 2p13.3  [Link to chromosome band 2p13]
Location_base_pair Starts at 69915041 and ends at 69942944 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
MXD1 (2p13.3) / ANTXR1 (2p13.3)MXD1 (2p13.3) / RILPL2 (12q24.31)MXD1 (2p13.3) / SORL1 (11q24.1)
MXD1 2p13.3 / ANTXR1 2p13.3

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 Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(8;12)(q24;q22) BTG1/MYC


External links

Nomenclature
HGNC (Hugo)MXD1   6761
Cards
Entrez_Gene (NCBI)MXD1  4084  MAX dimerization protein 1
AliasesBHLHC58; MAD; MAD1
GeneCards (Weizmann)MXD1
Ensembl hg19 (Hinxton)ENSG00000059728 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000059728 [Gene_View]  chr2:69915041-69942944 [Contig_View]  MXD1 [Vega]
ICGC DataPortalENSG00000059728
TCGA cBioPortalMXD1
AceView (NCBI)MXD1
Genatlas (Paris)MXD1
WikiGenes4084
SOURCE (Princeton)MXD1
Genetics Home Reference (NIH)MXD1
Genomic and cartography
GoldenPath hg38 (UCSC)MXD1  -     chr2:69915041-69942944 +  2p13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MXD1  -     2p13.3   [Description]    (hg19-Feb_2009)
EnsemblMXD1 - 2p13.3 [CytoView hg19]  MXD1 - 2p13.3 [CytoView hg38]
Mapping of homologs : NCBIMXD1 [Mapview hg19]  MXD1 [Mapview hg38]
OMIM600021   
Gene and transcription
Genbank (Entrez)AK301088 AK312734 BC036402 BC051693 BC069377
RefSeq transcript (Entrez)NM_001202513 NM_001202514 NM_002357
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MXD1
Cluster EST : UnigeneHs.468908 [ NCBI ]
CGAP (NCI)Hs.468908
Alternative Splicing GalleryENSG00000059728
Gene ExpressionMXD1 [ NCBI-GEO ]   MXD1 [ EBI - ARRAY_EXPRESS ]   MXD1 [ SEEK ]   MXD1 [ MEM ]
Gene Expression Viewer (FireBrowse)MXD1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4084
GTEX Portal (Tissue expression)MXD1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ05195   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ05195  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ05195
Splice isoforms : SwissVarQ05195
PhosPhoSitePlusQ05195
Domaine pattern : Prosite (Expaxy)BHLH (PS50888)   
Domains : Interpro (EBI)bHLH_dom   
Domain families : Pfam (Sanger)HLH (PF00010)   
Domain families : Pfam (NCBI)pfam00010   
Domain families : Smart (EMBL)HLH (SM00353)  
Conserved Domain (NCBI)MXD1
DMDM Disease mutations4084
Blocks (Seattle)MXD1
PDB (SRS)1E91    1G1E    1NLW    1PD7    1S5Q   
PDB (PDBSum)1E91    1G1E    1NLW    1PD7    1S5Q   
PDB (IMB)1E91    1G1E    1NLW    1PD7    1S5Q   
PDB (RSDB)1E91    1G1E    1NLW    1PD7    1S5Q   
Structural Biology KnowledgeBase1E91    1G1E    1NLW    1PD7    1S5Q   
SCOP (Structural Classification of Proteins)1E91    1G1E    1NLW    1PD7    1S5Q   
CATH (Classification of proteins structures)1E91    1G1E    1NLW    1PD7    1S5Q   
SuperfamilyQ05195
Human Protein AtlasENSG00000059728
Peptide AtlasQ05195
HPRD02487
IPIIPI00012034   IPI00916101   IPI00980106   IPI00976926   IPI00915965   
Protein Interaction databases
DIP (DOE-UCLA)Q05195
IntAct (EBI)Q05195
FunCoupENSG00000059728
BioGRIDMXD1
STRING (EMBL)MXD1
ZODIACMXD1
Ontologies - Pathways
QuickGOQ05195
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  nuclear chromatin  RNA polymerase II core promoter proximal region sequence-specific DNA binding  transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding  transcription factor activity, sequence-specific DNA binding  transcription cofactor activity  transcription corepressor activity  protein binding  nucleus  nucleoplasm  mitochondrion  cytosol  transcription, DNA-templated  multicellular organism development  cell proliferation  protein dimerization activity  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  nuclear chromatin  RNA polymerase II core promoter proximal region sequence-specific DNA binding  transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding  transcription factor activity, sequence-specific DNA binding  transcription cofactor activity  transcription corepressor activity  protein binding  nucleus  nucleoplasm  mitochondrion  cytosol  transcription, DNA-templated  multicellular organism development  cell proliferation  protein dimerization activity  
NDEx NetworkMXD1
Atlas of Cancer Signalling NetworkMXD1
Wikipedia pathwaysMXD1
Orthology - Evolution
OrthoDB4084
GeneTree (enSembl)ENSG00000059728
Phylogenetic Trees/Animal Genes : TreeFamMXD1
HOVERGENQ05195
HOGENOMQ05195
Homologs : HomoloGeneMXD1
Homology/Alignments : Family Browser (UCSC)MXD1
Gene fusions - Rearrangements
Fusion : MitelmanMXD1/ANTXR1 [2p13.3/2p13.3]  
Fusion: TCGAMXD1 2p13.3 ANTXR1 2p13.3 OV
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMXD1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MXD1
dbVarMXD1
ClinVarMXD1
1000_GenomesMXD1 
Exome Variant ServerMXD1
ExAC (Exome Aggregation Consortium)MXD1 (select the gene name)
Genetic variants : HAPMAP4084
Genomic Variants (DGV)MXD1 [DGVbeta]
DECIPHERMXD1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMXD1 
Mutations
ICGC Data PortalMXD1 
TCGA Data PortalMXD1 
Broad Tumor PortalMXD1
OASIS PortalMXD1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMXD1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMXD1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch MXD1
DgiDB (Drug Gene Interaction Database)MXD1
DoCM (Curated mutations)MXD1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MXD1 (select a term)
intoGenMXD1
Cancer3DMXD1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600021   
Orphanet
MedgenMXD1
Genetic Testing Registry MXD1
NextProtQ05195 [Medical]
TSGene4084
GENETestsMXD1
Target ValidationMXD1
Huge Navigator MXD1 [HugePedia]
snp3D : Map Gene to Disease4084
BioCentury BCIQMXD1
ClinGenMXD1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4084
Chemical/Pharm GKB GenePA30520
Clinical trialMXD1
Miscellaneous
canSAR (ICR)MXD1 (select the gene name)
Probes
Litterature
PubMed58 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMXD1
EVEXMXD1
GoPubMedMXD1
iHOPMXD1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jun 7 12:45:42 CEST 2017

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