Gene Gene information from NCBI Gene database.
Entrez ID 140733
Gene name Mono-ADP ribosylhydrolase 2
Gene symbol MACROD2
Synonyms (NCBI Gene)
C20orf133C2orf133
Chromosome 20
Chromosome location 20p12.1
Summary 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.
109
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611567 16126 ENSG00000172264
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
17
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Adrenocortical carcinoma, hereditary Benign rs80044408 RCV005938600
Cervical cancer Benign rs80044408 RCV005938601
Colon adenocarcinoma Benign rs80044408 RCV005938598
MACROD2-related disorder Benign; Likely benign rs80044408, rs200598669, rs2990505, rs201701473, rs150617904, rs763857357, rs139092334, rs2076945732, rs41275442, rs114484322 RCV003919585
RCV003919755
RCV003974637
RCV003911811
RCV003974028
RCV003911386
RCV003951964
RCV003931807
RCV003979266
RCV003960687
Associations from Text MiningDisease 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