Human Gene MACROD2 (ENST00000217246.8) from GENCODE V44
  Description: Homo sapiens mono-ADP ribosylhydrolase 2 (MACROD2), transcript variant 1, mRNA. (from RefSeq NM_080676)
RefSeq Summary (NM_080676): 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].
Gencode Transcript: ENST00000217246.8
Gencode Gene: ENSG00000172264.19
Transcript (Including UTRs)
   Position: hg38 chr20:13,995,369-16,053,197 Size: 2,057,829 Total Exon Count: 17 Strand: +
Coding Region
   Position: hg38 chr20:13,995,764-16,049,876 Size: 2,054,113 Coding Exon Count: 17 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr20:13,995,369-16,053,197)mRNA (may differ from genome)Protein (425 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MACD2_HUMAN
DESCRIPTION: RecName: Full=O-acetyl-ADP-ribose deacetylase MACROD2; EC=3.5.1.-; AltName: Full=MACRO domain-containing protein 2;
FUNCTION: Deacetylates O-acetyl-ADP ribose, a signaling molecule generated by the deacetylation of acetylated lysine residues in histones and other proteins.
BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=107 uM for O-acetyl-ADP-ribose;
SIMILARITY: Contains 1 Macro domain.
SEQUENCE CAUTION: Sequence=BAD18504.1; Type=Frameshift; Positions=151;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: MACROD2
Diseases sorted by gene-association score: kabuki syndrome 1 (5), autism spectrum disorder (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 5.01 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 39.07 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -185.80395-0.470 Picture PostScript Text
3' UTR -902.703321-0.272 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002589 - A1pp

Pfam Domains:
PF01661 - Macro domain

ModBase Predicted Comparative 3D Structure on A1Z1Q3
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGI     
Protein Sequence     
Alignment     

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0016787 hydrolase activity
GO:0016798 hydrolase activity, acting on glycosyl bonds
GO:0019213 deacetylase activity

Biological Process:
GO:0006974 cellular response to DNA damage stimulus
GO:0007420 brain development
GO:0042278 purine nucleoside metabolic process
GO:0051725 protein de-ADP-ribosylation

Cellular Component:
GO:0005634 nucleus
GO:0005730 nucleolus
GO:0005813 centrosome


-  Descriptions from all associated GenBank mRNAs
  AK131348 - Homo sapiens cDNA FLJ16368 fis, clone THYMU2035078, moderately similar to Homo sapiens LRP16 protein (LRP16).
EF159161 - Homo sapiens chromosome 20 unknown mRNA.
BC036403 - Homo sapiens chromosome 20 open reading frame 133, mRNA (cDNA clone IMAGE:5265436).
BC018687 - Homo sapiens MACRO domain containing 2, mRNA (cDNA clone MGC:27499 IMAGE:4717477), complete cds.
AK125899 - Homo sapiens cDNA FLJ43911 fis, clone TESTI4010928.
BC126936 - Homo sapiens MACRO domain containing 2, mRNA (cDNA clone IMAGE:40022087).
BC101216 - Homo sapiens MACRO domain containing 2, mRNA (cDNA clone IMAGE:40022083).
BC101217 - Homo sapiens MACRO domain containing 2, mRNA (cDNA clone IMAGE:40022084).
BC101218 - Homo sapiens MACRO domain containing 2, mRNA (cDNA clone IMAGE:40022086).
BC101219 - Homo sapiens MACRO domain containing 2, mRNA (cDNA clone IMAGE:40022093).
BC128036 - Homo sapiens cDNA clone IMAGE:40022102.
KJ895552 - Synthetic construct Homo sapiens clone ccsbBroadEn_04946 MACROD2 gene, encodes complete protein.
BC035876 - Homo sapiens chromosome 20 open reading frame 133, mRNA (cDNA clone IMAGE:4513167).
JD381368 - Sequence 362392 from Patent EP1572962.
JD495944 - Sequence 476968 from Patent EP1572962.
JD483620 - Sequence 464644 from Patent EP1572962.
JD141935 - Sequence 122959 from Patent EP1572962.
JD044191 - Sequence 25215 from Patent EP1572962.
JD521301 - Sequence 502325 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A1Z1Q3, A6NFF7, B0QZ39, B3KWV0, C20orf133, ENST00000217246.1, ENST00000217246.2, ENST00000217246.3, ENST00000217246.4, ENST00000217246.5, ENST00000217246.6, ENST00000217246.7, MACD2_HUMAN, NM_080676, Q0P6D5, Q495E0, Q5W199, Q6ZN71, uc002wot.1, uc002wot.2, uc002wot.3, uc002wot.4
UCSC ID: ENST00000217246.8
RefSeq Accession: NM_080676
Protein: A1Z1Q3 (aka MACD2_HUMAN)
CCDS: CCDS13120.2

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.