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MACROD2 (MACRO domain containing 2)

Identity

Alias_namesC20orf133
chromosome 20 open reading frame 133
Alias_symbol (synonym)dJ631M13.5
Other alias
HGNC (Hugo) MACROD2
LocusID (NCBI) 140733
Atlas_Id 54439
Location 20p12.1  [Link to chromosome band 20p12]
Location_base_pair Starts at 15177504 and ends at 16033841 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ATP9A (20q13.2) / MACROD2 (20p12.1)CTSB (8p23.1) / MACROD2 (20p12.1)DSCR3 (21q22.13) / MACROD2 (20p12.1)
HDLBP (2q37.3) / MACROD2 (20p12.1)MACROD2 (20p12.1) / C14orf132 (14q32.2)MACROD2 (20p12.1) / DCLK2 (4q31.23)
MACROD2 (20p12.1) / IFNGR2 (21q22.11)MACROD2 (20p12.1) / KIF16B (20p12.1)MACROD2 (20p12.1) / MACROD2 (20p12.1)
MACROD2 (20p12.1) / MPHOSPH8 (13q12.11)MACROD2 (20p12.1) / TASP1 (20p12.1)PRG2 (11q12.1) / MACROD2 (20p12.1)
TASP1 (20p12.1) / MACROD2 (20p12.1)ATP9A 20q13.2 / MACROD2 20p12.1DSCR3 21q22.13 / MACROD2 20p12.1
MACROD2 20p12.1 / DCLK2 4q31.23MACROD2 20p12.1 / TASP1 20p12.1TASP1 20p12.1 / MACROD2 20p12.1

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 ]
  Lung: Translocations in Squamous Cell Carcinoma


External links

Nomenclature
HGNC (Hugo)MACROD2   16126
Cards
Entrez_Gene (NCBI)MACROD2  140733  MACRO domain containing 2
AliasesC20orf133
GeneCards (Weizmann)MACROD2
Ensembl hg19 (Hinxton)ENSG00000172264 [Gene_View]  chr20:15177504-16033841 [Contig_View]  MACROD2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000172264 [Gene_View]  chr20:15177504-16033841 [Contig_View]  MACROD2 [Vega]
ICGC DataPortalENSG00000172264
TCGA cBioPortalMACROD2
AceView (NCBI)MACROD2
Genatlas (Paris)MACROD2
WikiGenes140733
SOURCE (Princeton)MACROD2
Genetics Home Reference (NIH)MACROD2
Genomic and cartography
GoldenPath hg19 (UCSC)MACROD2  -     chr20:15177504-16033841 +  20p12.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)MACROD2  -     20p12.1   [Description]    (hg38-Dec_2013)
EnsemblMACROD2 - 20p12.1 [CytoView hg19]  MACROD2 - 20p12.1 [CytoView hg38]
Mapping of homologs : NCBIMACROD2 [Mapview hg19]  MACROD2 [Mapview hg38]
OMIM611567   
Gene and transcription
Genbank (Entrez)AK125899 AK131348 BC018687 BC035876 BC036403
RefSeq transcript (Entrez)NM_001033087 NM_080676
RefSeq genomic (Entrez)NC_000020 NC_018931 NT_011387 NW_004929416
Consensus coding sequences : CCDS (NCBI)MACROD2
Cluster EST : UnigeneHs.661576 [ NCBI ]
CGAP (NCI)Hs.661576
Alternative Splicing GalleryENSG00000172264
Gene ExpressionMACROD2 [ NCBI-GEO ]   MACROD2 [ EBI - ARRAY_EXPRESS ]   MACROD2 [ SEEK ]   MACROD2 [ MEM ]
Gene Expression Viewer (FireBrowse)MACROD2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)140733
GTEX Portal (Tissue expression)MACROD2
Protein : pattern, domain, 3D structure
UniProt/SwissProtA1Z1Q3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtA1Z1Q3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProA1Z1Q3
Splice isoforms : SwissVarA1Z1Q3
Catalytic activity : Enzyme3.2.2.- [ Enzyme-Expasy ]   3.2.2.-3.2.2.- [ IntEnz-EBI ]   3.2.2.- [ BRENDA ]   3.2.2.- [ KEGG ]   
PhosPhoSitePlusA1Z1Q3
Domaine pattern : Prosite (Expaxy)MACRO (PS51154)   
Domains : Interpro (EBI)Macro_dom   
Domain families : Pfam (Sanger)Macro (PF01661)   
Domain families : Pfam (NCBI)pfam01661   
Domain families : Smart (EMBL)A1pp (SM00506)  
Conserved Domain (NCBI)MACROD2
DMDM Disease mutations140733
Blocks (Seattle)MACROD2
PDB (SRS)4IQY   
PDB (PDBSum)4IQY   
PDB (IMB)4IQY   
PDB (RSDB)4IQY   
Structural Biology KnowledgeBase4IQY   
SCOP (Structural Classification of Proteins)4IQY   
CATH (Classification of proteins structures)4IQY   
SuperfamilyA1Z1Q3
Human Protein AtlasENSG00000172264
Peptide AtlasA1Z1Q3
HPRD16640
IPIIPI00827557   IPI00856020   IPI00910543   IPI00914986   IPI00893415   
Protein Interaction databases
DIP (DOE-UCLA)A1Z1Q3
IntAct (EBI)A1Z1Q3
FunCoupENSG00000172264
BioGRIDMACROD2
STRING (EMBL)MACROD2
ZODIACMACROD2
Ontologies - Pathways
QuickGOA1Z1Q3
Ontology : AmiGOnucleus  cellular response to DNA damage stimulus  brain development  hydrolase activity, acting on glycosyl bonds  deacetylase activity  purine nucleoside metabolic process  protein de-ADP-ribosylation  
Ontology : EGO-EBInucleus  cellular response to DNA damage stimulus  brain development  hydrolase activity, acting on glycosyl bonds  deacetylase activity  purine nucleoside metabolic process  protein de-ADP-ribosylation  
NDEx NetworkMACROD2
Atlas of Cancer Signalling NetworkMACROD2
Wikipedia pathwaysMACROD2
Orthology - Evolution
OrthoDB140733
GeneTree (enSembl)ENSG00000172264
Phylogenetic Trees/Animal Genes : TreeFamMACROD2
HOVERGENA1Z1Q3
HOGENOMA1Z1Q3
Homologs : HomoloGeneMACROD2
Homology/Alignments : Family Browser (UCSC)MACROD2
Gene fusions - Rearrangements
Fusion : MitelmanATP9A/MACROD2 [20q13.2/20p12.1]  [t(20;20)(p12;q13)]  
Fusion : MitelmanDSCR3/MACROD2 [21q22.13/20p12.1]  [t(20;21)(p12;q22)]  
Fusion : MitelmanMACROD2/DCLK2 [20p12.1/4q31.23]  [t(4;20)(q31;p12)]  
Fusion : MitelmanMACROD2/KIF16B [20p12.1/20p12.1]  [t(20;20)(p12;p12)]  
Fusion : MitelmanMACROD2/MPHOSPH8 [20p12.1/13q12.11]  [t(13;20)(q12;p12)]  
Fusion : MitelmanMACROD2/TASP1 [20p12.1/20p12.1]  [t(20;20)(p12;p12)]  
Fusion : MitelmanTASP1/MACROD2 [20p12.1/20p12.1]  [t(20;20)(p12;p12)]  
Fusion: TCGAATP9A 20q13.2 MACROD2 20p12.1 LUAD
Fusion: TCGADSCR3 21q22.13 MACROD2 20p12.1 BRCA
Fusion: TCGAMACROD2 20p12.1 DCLK2 4q31.23 BRCA
Fusion: TCGAMACROD2 20p12.1 TASP1 20p12.1 LUAD
Fusion: TCGATASP1 20p12.1 MACROD2 20p12.1 PRAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMACROD2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MACROD2
dbVarMACROD2
ClinVarMACROD2
1000_GenomesMACROD2 
Exome Variant ServerMACROD2
ExAC (Exome Aggregation Consortium)MACROD2 (select the gene name)
Genetic variants : HAPMAP140733
Genomic Variants (DGV)MACROD2 [DGVbeta]
DECIPHER (Syndromes)20:15177504-16033841  ENSG00000172264
CONAN: Copy Number AnalysisMACROD2 
Mutations
ICGC Data PortalMACROD2 
TCGA Data PortalMACROD2 
Broad Tumor PortalMACROD2
OASIS PortalMACROD2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMACROD2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMACROD2
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 MACROD2
DgiDB (Drug Gene Interaction Database)MACROD2
DoCM (Curated mutations)MACROD2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MACROD2 (select a term)
intoGenMACROD2
Cancer3DMACROD2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611567   
Orphanet
MedgenMACROD2
Genetic Testing Registry MACROD2
NextProtA1Z1Q3 [Medical]
TSGene140733
GENETestsMACROD2
Huge Navigator MACROD2 [HugePedia]
snp3D : Map Gene to Disease140733
BioCentury BCIQMACROD2
ClinGenMACROD2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD140733
Chemical/Pharm GKB GenePA162394843
Clinical trialMACROD2
Miscellaneous
canSAR (ICR)MACROD2 (select the gene name)
Probes
Litterature
PubMed26 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMACROD2
EVEXMACROD2
GoPubMedMACROD2
iHOPMACROD2
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 : Thu Mar 30 15:08:11 CEST 2017

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