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MADD (MAP kinase activating death domain)

Identity

Alias_namesMAP-kinase activating death domain
Alias_symbol (synonym)DENN
KIAA0358
RAB3GEP
Other aliasIG20
HGNC (Hugo) MADD
LocusID (NCBI) 8567
Atlas_Id 41227
Location 11p11.2  [Link to chromosome band 11p11]
Location_base_pair Starts at 47270120 and ends at 47330031 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)
MADD (11p11.2) / MADD (11p11.2)MEG3 (14q32.2) / MADD (11p11.2)

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) [ 1 ]
  t(11;11)(p11;q23) MADD/POU2AF1

External links

Nomenclature
HGNC (Hugo)MADD   6766
Cards
Entrez_Gene (NCBI)MADD  8567  MAP kinase activating death domain
AliasesDENN; IG20; RAB3GEP
GeneCards (Weizmann)MADD
Ensembl hg19 (Hinxton)ENSG00000110514 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000110514 [Gene_View]  ENSG00000110514 [Sequence]  chr11:47270120-47330031 [Contig_View]  MADD [Vega]
ICGC DataPortalENSG00000110514
TCGA cBioPortalMADD
AceView (NCBI)MADD
Genatlas (Paris)MADD
WikiGenes8567
SOURCE (Princeton)MADD
Genetics Home Reference (NIH)MADD
Genomic and cartography
GoldenPath hg38 (UCSC)MADD  -     chr11:47270120-47330031 +  11p11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MADD  -     11p11.2   [Description]    (hg19-Feb_2009)
EnsemblMADD - 11p11.2 [CytoView hg19]  MADD - 11p11.2 [CytoView hg38]
Mapping of homologs : NCBIMADD [Mapview hg19]  MADD [Mapview hg38]
OMIM603584   
Gene and transcription
Genbank (Entrez)AB002356 AF440100 AF440101 AF440102 AF440103
RefSeq transcript (Entrez)NM_001135943 NM_001135944 NM_003682 NM_130470 NM_130471 NM_130472 NM_130473 NM_130474 NM_130475 NM_130476
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MADD
Cluster EST : UnigeneHs.82548 [ NCBI ]
CGAP (NCI)Hs.82548
Alternative Splicing GalleryENSG00000110514
Gene ExpressionMADD [ NCBI-GEO ]   MADD [ EBI - ARRAY_EXPRESS ]   MADD [ SEEK ]   MADD [ MEM ]
Gene Expression Viewer (FireBrowse)MADD [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8567
GTEX Portal (Tissue expression)MADD
Human Protein AtlasENSG00000110514-MADD [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8WXG6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8WXG6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8WXG6
Splice isoforms : SwissVarQ8WXG6
PhosPhoSitePlusQ8WXG6
Domaine pattern : Prosite (Expaxy)DENN (PS50211)   
Domains : Interpro (EBI)cDENN_dom    dDENN_dom    Tripartite_DENN    uDENN_dom   
Domain families : Pfam (Sanger)DENN (PF02141)    uDENN (PF03456)   
Domain families : Pfam (NCBI)pfam02141    pfam03456   
Domain families : Smart (EMBL)dDENN (SM00801)  DENN (SM00799)  uDENN (SM00800)  
Conserved Domain (NCBI)MADD
DMDM Disease mutations8567
Blocks (Seattle)MADD
SuperfamilyQ8WXG6
Human Protein Atlas [tissue]ENSG00000110514-MADD [tissue]
Peptide AtlasQ8WXG6
HPRD04664
IPIIPI00103536   IPI00292095   IPI00107844   IPI00292094   IPI00237706   IPI00788877   IPI00107843   IPI01011225   IPI00914603   IPI00878547   IPI00878399   IPI00914530   IPI00878719   IPI00974348   IPI01012296   IPI00914569   
Protein Interaction databases
DIP (DOE-UCLA)Q8WXG6
IntAct (EBI)Q8WXG6
FunCoupENSG00000110514
BioGRIDMADD
STRING (EMBL)MADD
ZODIACMADD
Ontologies - Pathways
QuickGOQ8WXG6
Ontology : AmiGOactivation of MAPK activity  death receptor binding  protein binding  cytoplasm  cytosol  cytosol  plasma membrane  cell surface receptor signaling pathway  regulation of tumor necrosis factor-mediated signaling pathway  integral component of membrane  Rab guanyl-nucleotide exchange factor activity  Rab guanyl-nucleotide exchange factor activity  Rab guanyl-nucleotide exchange factor activity  Rab guanyl-nucleotide exchange factor activity  protein kinase activator activity  regulation of Rab protein signal transduction  regulation of Rab protein signal transduction  regulation of apoptotic process  regulation of cell cycle  execution phase of apoptosis  regulation of extrinsic apoptotic signaling pathway via death domain receptors  regulation of extrinsic apoptotic signaling pathway via death domain receptors  regulation of extrinsic apoptotic signaling pathway  
Ontology : EGO-EBIactivation of MAPK activity  death receptor binding  protein binding  cytoplasm  cytosol  cytosol  plasma membrane  cell surface receptor signaling pathway  regulation of tumor necrosis factor-mediated signaling pathway  integral component of membrane  Rab guanyl-nucleotide exchange factor activity  Rab guanyl-nucleotide exchange factor activity  Rab guanyl-nucleotide exchange factor activity  Rab guanyl-nucleotide exchange factor activity  protein kinase activator activity  regulation of Rab protein signal transduction  regulation of Rab protein signal transduction  regulation of apoptotic process  regulation of cell cycle  execution phase of apoptosis  regulation of extrinsic apoptotic signaling pathway via death domain receptors  regulation of extrinsic apoptotic signaling pathway via death domain receptors  regulation of extrinsic apoptotic signaling pathway  
NDEx NetworkMADD
Atlas of Cancer Signalling NetworkMADD
Wikipedia pathwaysMADD
Orthology - Evolution
OrthoDB8567
GeneTree (enSembl)ENSG00000110514
Phylogenetic Trees/Animal Genes : TreeFamMADD
HOGENOMQ8WXG6
Homologs : HomoloGeneMADD
Homology/Alignments : Family Browser (UCSC)MADD
Gene fusions - Rearrangements
Fusion : QuiverMADD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMADD [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MADD
dbVarMADD
ClinVarMADD
1000_GenomesMADD 
Exome Variant ServerMADD
ExAC (Exome Aggregation Consortium)ENSG00000110514
GNOMAD BrowserENSG00000110514
Varsome BrowserMADD
Genetic variants : HAPMAP8567
Genomic Variants (DGV)MADD [DGVbeta]
DECIPHERMADD [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMADD 
Mutations
ICGC Data PortalMADD 
TCGA Data PortalMADD 
Broad Tumor PortalMADD
OASIS PortalMADD [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMADD  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMADD
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 MADD
DgiDB (Drug Gene Interaction Database)MADD
DoCM (Curated mutations)MADD (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MADD (select a term)
intoGenMADD
Cancer3DMADD(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603584   
Orphanet
DisGeNETMADD
MedgenMADD
Genetic Testing Registry MADD
NextProtQ8WXG6 [Medical]
TSGene8567
GENETestsMADD
Target ValidationMADD
Huge Navigator MADD [HugePedia]
snp3D : Map Gene to Disease8567
BioCentury BCIQMADD
ClinGenMADD
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8567
Chemical/Pharm GKB GenePA30523
Clinical trialMADD
Miscellaneous
canSAR (ICR)MADD (select the gene name)
Probes
Litterature
PubMed64 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMADD
EVEXMADD
GoPubMedMADD
iHOPMADD
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 : Fri Dec 21 15:31:29 CET 2018
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