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MACROD2 (mono-ADP ribosylhydrolase 2)

Identity

Alias (NCBI)C20orf133
C2orf133
HGNC (Hugo) MACROD2
HGNC Alias symbdJ631M13.5
HGNC Alias nameO-acetyl-ADP-ribose deacetylase MACROD2
HGNC Previous nameC20orf133
HGNC Previous namechromosome 20 open reading frame 133
 MACRO domain containing 2
LocusID (NCBI) 140733
Atlas_Id 54439
Location 20p12.1  [Link to chromosome band 20p12]
Location_base_pair Starts at 13995516 and ends at 16053196 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)
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

 



External links

 

Nomenclature
HGNC (Hugo)MACROD2   16126
Cards
Entrez_Gene (NCBI)MACROD2    mono-ADP ribosylhydrolase 2
AliasesC20orf133; C2orf133
GeneCards (Weizmann)MACROD2
Ensembl hg19 (Hinxton)ENSG00000172264 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000172264 [Gene_View]  ENSG00000172264 [Sequence]  chr20:13995516-16053196 [Contig_View]  MACROD2 [Vega]
ICGC DataPortalENSG00000172264
TCGA cBioPortalMACROD2
AceView (NCBI)MACROD2
Genatlas (Paris)MACROD2
SOURCE (Princeton)MACROD2
Genetics Home Reference (NIH)MACROD2
Genomic and cartography
GoldenPath hg38 (UCSC)MACROD2  -     chr20:13995516-16053196 +  20p12.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MACROD2  -     20p12.1   [Description]    (hg19-Feb_2009)
GoldenPathMACROD2 - 20p12.1 [CytoView hg19]  MACROD2 - 20p12.1 [CytoView hg38]
ImmunoBaseENSG00000172264
Genome Data Viewer NCBIMACROD2 [Mapview hg19]  
OMIM611567   
Gene and transcription
Genbank (Entrez)AK125899 AK131348 BC018687 BC035876 BC036403
RefSeq transcript (Entrez)NM_001033087 NM_001351661 NM_001351663 NM_001351664 NM_080676
Consensus coding sequences : CCDS (NCBI)MACROD2
Gene ExpressionMACROD2 [ NCBI-GEO ]   MACROD2 [ EBI - ARRAY_EXPRESS ]   MACROD2 [ SEEK ]   MACROD2 [ MEM ]
Gene Expression Viewer (FireBrowse)MACROD2 [ Firebrowse - Broad ]
GenevisibleExpression of MACROD2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)140733
GTEX Portal (Tissue expression)MACROD2
Human Protein AtlasENSG00000172264-MACROD2 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusA1Z1Q3
Domaine pattern : Prosite (Expaxy)MACRO (PS51154)   
Domains : Interpro (EBI)Macro_dom    Macro_dom-like   
Domain families : Pfam (Sanger)Macro (PF01661)   
Domain families : Pfam (NCBI)pfam01661   
Domain families : Smart (EMBL)A1pp (SM00506)  
Conserved Domain (NCBI)MACROD2
PDB (RSDB)4IQY    6Y4Y    6Y4Z    6Y73   
PDB Europe4IQY    6Y4Y    6Y4Z    6Y73   
PDB (PDBSum)4IQY    6Y4Y    6Y4Z    6Y73   
PDB (IMB)4IQY    6Y4Y    6Y4Z    6Y73   
Structural Biology KnowledgeBase4IQY    6Y4Y    6Y4Z    6Y73   
SCOP (Structural Classification of Proteins)4IQY    6Y4Y    6Y4Z    6Y73   
CATH (Classification of proteins structures)4IQY    6Y4Y    6Y4Z    6Y73   
SuperfamilyA1Z1Q3
AlphaFold pdb e-kbA1Z1Q3   
Human Protein Atlas [tissue]ENSG00000172264-MACROD2 [tissue]
HPRD16640
Protein Interaction databases
DIP (DOE-UCLA)A1Z1Q3
IntAct (EBI)A1Z1Q3
BioGRIDMACROD2
STRING (EMBL)MACROD2
ZODIACMACROD2
Ontologies - Pathways
QuickGOA1Z1Q3
Ontology : AmiGOnucleus  nucleoplasm  nucleoplasm  nucleolus  cellular response to DNA damage stimulus  cellular response to DNA damage stimulus  hydrolase activity, acting on glycosyl bonds  deacetylase activity  purine nucleoside metabolic process  purine nucleoside metabolic process  protein de-ADP-ribosylation  peptidyl-glutamate ADP-deribosylation  peptidyl-glutamate ADP-deribosylation  ADP-ribosylglutamate hydrolase activity  ADP-ribosylglutamate hydrolase activity  
Ontology : EGO-EBInucleus  nucleoplasm  nucleoplasm  nucleolus  cellular response to DNA damage stimulus  cellular response to DNA damage stimulus  hydrolase activity, acting on glycosyl bonds  deacetylase activity  purine nucleoside metabolic process  purine nucleoside metabolic process  protein de-ADP-ribosylation  peptidyl-glutamate ADP-deribosylation  peptidyl-glutamate ADP-deribosylation  ADP-ribosylglutamate hydrolase activity  ADP-ribosylglutamate hydrolase activity  
NDEx NetworkMACROD2
Atlas of Cancer Signalling NetworkMACROD2
Wikipedia pathwaysMACROD2
Orthology - Evolution
OrthoDB140733
GeneTree (enSembl)ENSG00000172264
Phylogenetic Trees/Animal Genes : TreeFamMACROD2
Homologs : HomoloGeneMACROD2
Homology/Alignments : Family Browser (UCSC)MACROD2
Gene fusions - Rearrangements
Fusion : MitelmanATP9A/MACROD2 [20q13.2/20p12.1]  
Fusion : MitelmanDSCR3/MACROD2 [21q22.13/20p12.1]  
Fusion : MitelmanMACROD2/DCLK2 [20p12.1/4q31.23]  
Fusion : MitelmanMACROD2/KIF16B [20p12.1/20p12.1]  
Fusion : MitelmanMACROD2/MPHOSPH8 [20p12.1/13q12.11]  
Fusion : MitelmanMACROD2/TASP1 [20p12.1/20p12.1]  
Fusion : MitelmanTASP1/MACROD2 [20p12.1/20p12.1]  
Fusion : QuiverMACROD2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMACROD2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MACROD2
dbVarMACROD2
ClinVarMACROD2
MonarchMACROD2
1000_GenomesMACROD2 
Exome Variant ServerMACROD2
GNOMAD BrowserENSG00000172264
Varsome BrowserMACROD2
ACMGMACROD2 variants
VarityA1Z1Q3
Genomic Variants (DGV)MACROD2 [DGVbeta]
DECIPHERMACROD2 [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DMACROD2
Mutations and Diseases : HGMDMACROD2
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaMACROD2
DgiDB (Drug Gene Interaction Database)MACROD2
DoCM (Curated mutations)MACROD2
CIViC (Clinical Interpretations of Variants in Cancer)MACROD2
Cancer3DMACROD2
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611567   
Orphanet
DisGeNETMACROD2
MedgenMACROD2
Genetic Testing Registry MACROD2
NextProtA1Z1Q3 [Medical]
GENETestsMACROD2
Target ValidationMACROD2
Huge Navigator MACROD2 [HugePedia]
ClinGenMACROD2
Clinical trials, drugs, therapy
MyCancerGenomeMACROD2
Protein Interactions : CTDMACROD2
Pharm GKB GenePA162394843
PharosA1Z1Q3
Clinical trialMACROD2
Miscellaneous
canSAR (ICR)MACROD2
HarmonizomeMACROD2
DataMed IndexMACROD2
Probes
Litterature
PubMed37 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXMACROD2
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 : Mon Oct 4 15:17:23 CEST 2021

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