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MAMDC2 (MAM domain containing 2)

Identity

Alias_symbol (synonym)MGC21981
Other alias-
HGNC (Hugo) MAMDC2
LocusID (NCBI) 256691
Atlas_Id 68770
Location 9q21.12  [Link to chromosome band 9q21]
Location_base_pair Starts at 70043581 and ends at 70176560 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
DAPK1 (9q21.33) / MAMDC2 (9q21.12)IGFBP3 (7p12.3) / MAMDC2 (9q21.12)MAMDC2 (9q21.12) / MRPS28 (8q21.13)
MAMDC2 (9q21.12) / TPD52 (8q21.13)SMC5 (9q21.12) / MAMDC2 (9q21.12)MAMDC2 MRPS28
MAMDC2 TPD52

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

 


External links

Nomenclature
HGNC (Hugo)MAMDC2   23673
Cards
Entrez_Gene (NCBI)MAMDC2  256691  MAM domain containing 2
Aliases
GeneCards (Weizmann)MAMDC2
Ensembl hg19 (Hinxton)ENSG00000165072 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000165072 [Gene_View]  chr9:70043581-70176560 [Contig_View]  MAMDC2 [Vega]
ICGC DataPortalENSG00000165072
TCGA cBioPortalMAMDC2
AceView (NCBI)MAMDC2
Genatlas (Paris)MAMDC2
WikiGenes256691
SOURCE (Princeton)MAMDC2
Genetics Home Reference (NIH)MAMDC2
Genomic and cartography
GoldenPath hg38 (UCSC)MAMDC2  -     chr9:70043581-70176560 +  9q21.12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MAMDC2  -     9q21.12   [Description]    (hg19-Feb_2009)
EnsemblMAMDC2 - 9q21.12 [CytoView hg19]  MAMDC2 - 9q21.12 [CytoView hg38]
Mapping of homologs : NCBIMAMDC2 [Mapview hg19]  MAMDC2 [Mapview hg38]
OMIM612879   
Gene and transcription
Genbank (Entrez)AI003621 AK304040 AK304531 AM392767 BC015417
RefSeq transcript (Entrez)NM_001347990 NM_153267
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MAMDC2
Cluster EST : UnigeneHs.666569 [ NCBI ]
CGAP (NCI)Hs.666569
Alternative Splicing GalleryENSG00000165072
Gene ExpressionMAMDC2 [ NCBI-GEO ]   MAMDC2 [ EBI - ARRAY_EXPRESS ]   MAMDC2 [ SEEK ]   MAMDC2 [ MEM ]
Gene Expression Viewer (FireBrowse)MAMDC2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)256691
GTEX Portal (Tissue expression)MAMDC2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ7Z304   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ7Z304  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ7Z304
Splice isoforms : SwissVarQ7Z304
PhosPhoSitePlusQ7Z304
Domaine pattern : Prosite (Expaxy)MAM_1 (PS00740)    MAM_2 (PS50060)   
Domains : Interpro (EBI)ConA-like_dom    MAM_dom   
Domain families : Pfam (Sanger)MAM (PF00629)   
Domain families : Pfam (NCBI)pfam00629   
Domain families : Smart (EMBL)MAM (SM00137)  
Conserved Domain (NCBI)MAMDC2
DMDM Disease mutations256691
Blocks (Seattle)MAMDC2
SuperfamilyQ7Z304
Human Protein AtlasENSG00000165072
Peptide AtlasQ7Z304
HPRD14353
IPIIPI00183750   IPI00410484   IPI00908767   
Protein Interaction databases
DIP (DOE-UCLA)Q7Z304
IntAct (EBI)Q7Z304
FunCoupENSG00000165072
BioGRIDMAMDC2
STRING (EMBL)MAMDC2
ZODIACMAMDC2
Ontologies - Pathways
QuickGOQ7Z304
Ontology : AmiGOproteinaceous extracellular matrix  endoplasmic reticulum  membrane  
Ontology : EGO-EBIproteinaceous extracellular matrix  endoplasmic reticulum  membrane  
NDEx NetworkMAMDC2
Atlas of Cancer Signalling NetworkMAMDC2
Wikipedia pathwaysMAMDC2
Orthology - Evolution
OrthoDB256691
GeneTree (enSembl)ENSG00000165072
Phylogenetic Trees/Animal Genes : TreeFamMAMDC2
HOVERGENQ7Z304
HOGENOMQ7Z304
Homologs : HomoloGeneMAMDC2
Homology/Alignments : Family Browser (UCSC)MAMDC2
Gene fusions - Rearrangements
Fusion: TCGAMAMDC2 MRPS28
Fusion: TCGAMAMDC2 TPD52
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMAMDC2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MAMDC2
dbVarMAMDC2
ClinVarMAMDC2
1000_GenomesMAMDC2 
Exome Variant ServerMAMDC2
ExAC (Exome Aggregation Consortium)MAMDC2 (select the gene name)
Genetic variants : HAPMAP256691
Genomic Variants (DGV)MAMDC2 [DGVbeta]
DECIPHERMAMDC2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMAMDC2 
Mutations
ICGC Data PortalMAMDC2 
TCGA Data PortalMAMDC2 
Broad Tumor PortalMAMDC2
OASIS PortalMAMDC2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMAMDC2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMAMDC2
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 MAMDC2
DgiDB (Drug Gene Interaction Database)MAMDC2
DoCM (Curated mutations)MAMDC2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MAMDC2 (select a term)
intoGenMAMDC2
Cancer3DMAMDC2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612879   
Orphanet
MedgenMAMDC2
Genetic Testing Registry MAMDC2
NextProtQ7Z304 [Medical]
TSGene256691
GENETestsMAMDC2
Target ValidationMAMDC2
Huge Navigator MAMDC2 [HugePedia]
snp3D : Map Gene to Disease256691
BioCentury BCIQMAMDC2
ClinGenMAMDC2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD256691
Chemical/Pharm GKB GenePA134944739
Clinical trialMAMDC2
Miscellaneous
canSAR (ICR)MAMDC2 (select the gene name)
Probes
Litterature
PubMed9 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMAMDC2
EVEXMAMDC2
GoPubMedMAMDC2
iHOPMAMDC2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed May 31 15:25:25 CEST 2017

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