Atlas of Genetics and Cytogenetics in Oncology and Haematology

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MXD3 (MAX dimerization protein 3)

Identity

Alias (NCBI)BHLHC13
MAD3
MYX
HGNC (Hugo) MXD3
HGNC Alias symbMAD3
bHLHc13
LocusID (NCBI) 83463
Atlas_Id 56413
Location 5q35.3  [Link to chromosome band 5q35]
Location_base_pair Starts at 177307210 and ends at 177311898 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)
ANKH (5p15.2) / MXD3 (5q35.3)LMAN2 (5q35.3) / MXD3 (5q35.3)MXD3 (5q35.3) / EME2 (16p13.3)
MXD3 (5q35.3) / PYCR2 (1q42.12)

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(5;5)(p15;q35) ANKH/MXD3
LMAN2/MXD3 (5q35)

External links

Nomenclature
HGNC (Hugo)MXD3   14008
Cards
Entrez_Gene (NCBI)MXD3    MAX dimerization protein 3
AliasesBHLHC13; MAD3; MYX
GeneCards (Weizmann)MXD3
Ensembl hg19 (Hinxton)ENSG00000213347 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000213347 [Gene_View]  ENSG00000213347 [Sequence]  chr5:177307210-177311898 [Contig_View]  MXD3 [Vega]
ICGC DataPortalENSG00000213347
TCGA cBioPortalMXD3
AceView (NCBI)MXD3
Genatlas (Paris)MXD3
SOURCE (Princeton)MXD3
Genetics Home Reference (NIH)MXD3
Genomic and cartography
GoldenPath hg38 (UCSC)MXD3  -     chr5:177307210-177311898 -  5q35.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MXD3  -     5q35.3   [Description]    (hg19-Feb_2009)
GoldenPathMXD3 - 5q35.3 [CytoView hg19]  MXD3 - 5q35.3 [CytoView hg38]
ImmunoBaseENSG00000213347
genome Data Viewer NCBIMXD3 [Mapview hg19]  
OMIM609450   
Gene and transcription
Genbank (Entrez)AF114834 AK057034 AK092842 AK222579 AK303397
RefSeq transcript (Entrez)NM_001142935 NM_031300
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MXD3
Alternative Splicing GalleryENSG00000213347
Gene ExpressionMXD3 [ NCBI-GEO ]   MXD3 [ EBI - ARRAY_EXPRESS ]   MXD3 [ SEEK ]   MXD3 [ MEM ]
Gene Expression Viewer (FireBrowse)MXD3 [ Firebrowse - Broad ]
GenevisibleExpression of MXD3 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)83463
GTEX Portal (Tissue expression)MXD3
Human Protein AtlasENSG00000213347-MXD3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BW11   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BW11  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BW11
Splice isoforms : SwissVarQ9BW11
PhosPhoSitePlusQ9BW11
Domaine pattern : Prosite (Expaxy)BHLH (PS50888)   
Domains : Interpro (EBI)bHLH_dom    HLH_DNA-bd_sf   
Domain families : Pfam (Sanger)HLH (PF00010)   
Domain families : Pfam (NCBI)pfam00010   
Domain families : Smart (EMBL)HLH (SM00353)  
Conserved Domain (NCBI)MXD3
Blocks (Seattle)MXD3
SuperfamilyQ9BW11
Human Protein Atlas [tissue]ENSG00000213347-MXD3 [tissue]
Peptide AtlasQ9BW11
HPRD14791
IPIIPI00470624   IPI00795383   IPI00065483   IPI01025147   IPI00385756   IPI00967653   
Protein Interaction databases
DIP (DOE-UCLA)Q9BW11
IntAct (EBI)Q9BW11
BioGRIDMXD3
STRING (EMBL)MXD3
ZODIACMXD3
Ontologies - Pathways
QuickGOQ9BW11
Ontology : AmiGOnegative regulation of transcription by RNA polymerase II  nuclear chromatin  RNA polymerase II regulatory region sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription repressor activity, RNA polymerase II-specific  protein binding  protein dimerization activity  RNA polymerase II transcription factor complex  
Ontology : EGO-EBInegative regulation of transcription by RNA polymerase II  nuclear chromatin  RNA polymerase II regulatory region sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription repressor activity, RNA polymerase II-specific  protein binding  protein dimerization activity  RNA polymerase II transcription factor complex  
NDEx NetworkMXD3
Atlas of Cancer Signalling NetworkMXD3
Wikipedia pathwaysMXD3
Orthology - Evolution
OrthoDB83463
GeneTree (enSembl)ENSG00000213347
Phylogenetic Trees/Animal Genes : TreeFamMXD3
HOGENOMQ9BW11
Homologs : HomoloGeneMXD3
Homology/Alignments : Family Browser (UCSC)MXD3
Gene fusions - Rearrangements
Fusion : QuiverMXD3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMXD3 [hg38]
dbVarMXD3
ClinVarMXD3
MonarchMXD3
1000_GenomesMXD3 
Exome Variant ServerMXD3
GNOMAD BrowserENSG00000213347
Varsome BrowserMXD3
Genomic Variants (DGV)MXD3 [DGVbeta]
DECIPHERMXD3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMXD3 
Mutations
ICGC Data PortalMXD3 
TCGA Data PortalMXD3 
Broad Tumor PortalMXD3
OASIS PortalMXD3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMXD3  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DMXD3
Mutations and Diseases : HGMDMXD3
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 MXD3
DgiDB (Drug Gene Interaction Database)MXD3
DoCM (Curated mutations)MXD3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MXD3 (select a term)
intoGenMXD3
Cancer3DMXD3(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609450   
Orphanet
DisGeNETMXD3
MedgenMXD3
Genetic Testing Registry MXD3
NextProtQ9BW11 [Medical]
GENETestsMXD3
Target ValidationMXD3
Huge Navigator MXD3 [HugePedia]
ClinGenMXD3
Clinical trials, drugs, therapy
MyCancerGenomeMXD3
Protein Interactions : CTD
Pharm GKB GenePA134892226
PharosQ9BW11
Clinical trialMXD3
Miscellaneous
canSAR (ICR)MXD3 (select the gene name)
HarmonizomeMXD3
DataMed IndexMXD3
Probes
Litterature
PubMed32 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXMXD3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Fri Jan 1 18:27:48 CET 2021
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