Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
140733
Gene name Gene Name - the full gene name approved by the HGNC.
Mono-ADP ribosylhydrolase 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MACROD2
Synonyms (NCBI Gene) Gene synonyms aliases
C20orf133, C2orf133
Chromosome Chromosome number
20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20p12.1
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a deacetylase involved in removing ADP-ribose from mono-ADP-ribosylated proteins. The encoded protein has been shown to translocate from the nucleus to the cytoplasm upon DNA damage. [provided by RefSeq, May 2017]
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT712425 hsa-miR-504-5p HITS-CLIP 19536157
MIRT712424 hsa-miR-4292 HITS-CLIP 19536157
MIRT712423 hsa-miR-6791-5p HITS-CLIP 19536157
MIRT712422 hsa-miR-6852-5p HITS-CLIP 19536157
MIRT712421 hsa-miR-4725-5p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005634 Component Nucleus IDA 23474712
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IBA
GO:0005654 Component Nucleoplasm IDA
GO:0005730 Component Nucleolus IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
611567 16126 ENSG00000172264
Protein
UniProt ID A1Z1Q3
Protein name ADP-ribose glycohydrolase MACROD2 (MACRO domain-containing protein 2) (O-acetyl-ADP-ribose deacetylase MACROD2) (EC 3.5.1.-) ([Protein ADP-ribosylaspartate] hydrolase MACROD2) (EC 3.2.2.-) ([Protein ADP-ribosylglutamate] hydrolase MACROD2) (EC 3.2.2.-)
Protein function Removes ADP-ribose from aspartate and glutamate residues in proteins bearing a single ADP-ribose moiety (PubMed:23474712, PubMed:23474714). Inactive towards proteins bearing poly-ADP-ribose (PubMed:23474712, PubMed:23474714). Deacetylates O-acet
PDB 4IQY , 6Y4Y , 6Y4Z , 6Y73
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01661 Macro 88 201 Macro domain Domain
Sequence
MYPSNKKKKVWREEKERLLKMTLEERRKEYLRDYIPLNSILSWKEEMKGKGQNDEENTQE
TSQVKKSLTEKVSLYRGDITLLEVDAIVNAANASLLGGGGVDGCIHRAAGPCLLAECRNL
NGCDTGHAKITCGYDLPAKYVIHTVGPIARGHINGSHKEDLANCYKSSLKLVKENNIRSV
AFPCISTGIYGFPNEPAAVIA
LNTIKEWLAKNHHEVDRIIFCVFLEVDFKIYKKKMNEFF
SVDDNNEEEEDVEMKEDSDENGPEEKQSVEEMEEQSQDADGVNTVTVPGPASEEAVEDCK
DEDFAKDENITKGGEVTDHSVRDQDHPDGQENDSTKNEIKIETESQSSYMETEELSSNQE
DAVIVEQPEVIPLTEDQEEKEGEKAPGEDTPRMPGKSEGSSDLENTPGPDAGAQDEAKEQ
RNGTK
Sequence length 425
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Asthma Asthma (childhood onset) N/A N/A GWAS
Bipolar Disorder Bipolar I disorder, Bipolar disorder N/A N/A GWAS
Colorectal Cancer Metastasis in stage I-III microsatellite instability low/stable colorectal cancer (time to event) N/A N/A GWAS
Crohn Disease Crohn's disease N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 20651033
Alzheimer Disease Associate 36553611
Asthma Associate 31379025
Atherosclerosis Associate 24954375
Autism Spectrum Disorder Associate 20663923, 32081867, 34069769
Autistic Disorder Associate 20663923, 23471985, 23575222, 24204716, 25360606, 25975968, 36150388
Breast Neoplasms Associate 25422431, 35485697
Carcinoma Associate 31467233
Cerebral Infarction Associate 24954375
Colorectal Neoplasms Associate 26375816, 39332629