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MACROD2 mono-ADP ribosylhydrolase 2 [ Homo sapiens (human) ]

Gene ID: 140733, updated on 4-Oct-2020

Summary

Official Symbol
MACROD2provided by HGNC
Official Full Name
mono-ADP ribosylhydrolase 2provided by HGNC
Primary source
HGNC:HGNC:16126
See related
Ensembl:ENSG00000172264 MIM:611567
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
C2orf133; C20orf133
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]
Expression
Broad expression in lung (RPKM 4.7), brain (RPKM 4.0) and 20 other tissues See more
Orthologs

Genomic context

See MACROD2 in Genome Data Viewer
Location:
20p12.1
Exon count:
21
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (13995516..16053197)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (13976146..16033842)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene tRNA-Glu (CTC) 10-1 Neighboring gene SEL1L2 adaptor subunit of ERAD E3 ligase Neighboring gene RNA, U6 small nuclear 278, pseudogene Neighboring gene ribosomal protein S3 pseudogene 1 Neighboring gene aminoacyl tRNA synthetase complex interacting multifunctional protein 1 pseudogene 1 Neighboring gene RNA, 7SL, cytoplasmic 864, pseudogene Neighboring gene RNA, U6 small nuclear 228, pseudogene Neighboring gene MACROD2 intronic transcript 1 Neighboring gene fibronectin leucine rich transmembrane protein 3 Neighboring gene ring finger protein 11 pseudogene 2 Neighboring gene MACROD2 antisense RNA 1 Neighboring gene ribosomal protein S10 pseudogene 2 Neighboring gene RNA, U6 small nuclear 1159, pseudogene Neighboring gene RNA, U6 small nuclear 115, pseudogene Neighboring gene RNA, 5S ribosomal pseudogene 475 Neighboring gene uncharacterized LOC107985394 Neighboring gene endosulfine alpha pseudogene 1 Neighboring gene uncharacterized LOC613266 Neighboring gene peptidylprolyl isomerase A pseudogene 17 Neighboring gene kinesin family member 16B

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.
GeneReviews: Not available
A genome-wide scan for common alleles affecting risk for autism.
GeneReviews: Not available
Common body mass index-associated variants confer risk of extreme obesity.
GeneReviews: Not available
Genetic variants associated with disordered eating.
GeneReviews: Not available
Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
GeneReviews: Not available
Genome-wide association study identifies candidate genes for male fertility traits in humans.
GeneReviews: Not available
Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease.
GeneReviews: Not available
Genome-wide association study of antiphospholipid antibodies.
GeneReviews: Not available
Genome-wide scan of healthy human connectome discovers SPON1 gene variant influencing dementia severity.
GeneReviews: Not available
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available
Two-marker association tests yield new disease associations for coronary artery disease and hypertension.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
deacetylase activity IDA
Inferred from Direct Assay
more info
PubMed 
hydrolase activity, acting on glycosyl bonds IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
brain development IEA
Inferred from Electronic Annotation
more info
 
cellular response to DNA damage stimulus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to DNA damage stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein de-ADP-ribosylation IDA
Inferred from Direct Assay
more info
PubMed 
purine nucleoside metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
purine nucleoside metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
response to bacterium IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nucleolus IDA
Inferred from Direct Assay
more info
 
nucleoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
ADP-ribose glycohydrolase MACROD2
Names
MACRO domain containing 2
MACRO domain-containing protein 2
O-acetyl-ADP-ribose deacetylase MACROD2
[Protein ADP-ribosylaspartate] hydrolase MACROD2
[Protein ADP-ribosylglutamate] hydrolase
[Protein ADP-ribosylglutamate] hydrolase MACROD2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_054905.1 RefSeqGene

    Range
    5017..2062698
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001033087.2NP_001028259.1  ADP-ribose glycohydrolase MACROD2 isoform 2

    See identical proteins and their annotated locations for NP_001028259.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 3. The resulting isoform (2) is shorter at the N-terminus compared to isoform 3.
    Source sequence(s)
    AL133462, AL136991, BC018687
    Consensus CDS
    CCDS33443.1
    UniProtKB/Swiss-Prot
    A1Z1Q3
    Related
    ENSP00000385290.1, ENST00000402914.5
  2. NM_001351661.2NP_001338590.1  ADP-ribose glycohydrolase MACROD2 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (3).
    Source sequence(s)
    AL049633, AL079338, AL117333, AL121582, AL121584, AL136991, AL158088, AL353798, AL354773, AL357654
    Conserved Domains (2) summary
    cd02908
    Location:71237
    Macro_Appr_pase_like; Macro domain, Appr-1"-pase_like family. The macro domain is a high-affinity ADP-ribose binding module found in a variety of proteins as a stand-alone domain or in combination with other domains like in histone macroH2A and some PARPs (poly ADP-ribose ...
    cl26761
    Location:263448
    MDN1; Midasin, AAA ATPase with vWA domain, involved in ribosome maturation [Translation, ribosomal structure and biogenesis]
  3. NM_001351663.2NP_001338592.1  ADP-ribose glycohydrolase MACROD2 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate in-frame splice junction in the 3' end compared to variant 3. The resulting isoform (4) has the same N- and C-termini but is 1 aa shorter compared to isoform 4.
    Source sequence(s)
    AL049633, AL079338, AL117333, AL121582, AL121584, AL136991, AL158088, AL353798, AL354773, AL357654
    Conserved Domains (2) summary
    cd02908
    Location:71237
    Macro_Appr_pase_like; Macro domain, Appr-1"-pase_like family. The macro domain is a high-affinity ADP-ribose binding module found in a variety of proteins as a stand-alone domain or in combination with other domains like in histone macroH2A and some PARPs (poly ADP-ribose ...
    cl26761
    Location:258442
    MDN1; Midasin, AAA ATPase with vWA domain, involved in ribosome maturation [Translation, ribosomal structure and biogenesis]
  4. NM_001351664.2NP_001338593.1  ADP-ribose glycohydrolase MACROD2 isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and coding sequence and contains an alternate in-frame exon compared to variant 3. The resulting isoform (5) is shorter at the N-terminus and contains an alternate internal segment compared to isoform 3.
    Source sequence(s)
    AL049633, AL079338, AL121584, AL133462, AL136991, AL158088, AL357654
  5. NM_080676.6NP_542407.2  ADP-ribose glycohydrolase MACROD2 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) lacks an alternate in-frame exon in the 3' end compared to variant 3. The resulting isoform (1) has the same N- and C-termini but is shorter compared to isoform 3.
    Source sequence(s)
    AK125899, AL136991, DB125529, DB495787, DR001087
    Consensus CDS
    CCDS13120.2
    UniProtKB/Swiss-Prot
    A1Z1Q3
    Related
    ENSP00000217246.4, ENST00000217246.8
    Conserved Domains (2) summary
    cd02908
    Location:71237
    Macro_Appr_pase_like; Macro domain, Appr-1"-pase_like family. The macro domain is a high-affinity ADP-ribose binding module found in a variety of proteins as a stand-alone domain or in combination with other domains like in histone macroH2A and some PARPs (poly ADP-ribose ...
    cl26761
    Location:263420
    MDN1; Midasin, AAA ATPase with vWA domain, involved in ribosome maturation [Translation, ribosomal structure and biogenesis]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    13995516..16053197
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024451834.1XP_024307602.1  ADP-ribose glycohydrolase MACROD2 isoform X1

    Conserved Domains (1) summary
    COG5271
    Location:49272
    MDN1; Midasin, AAA ATPase with vWA domain, involved in ribosome maturation [Translation, ribosomal structure and biogenesis]
  2. XM_017027675.1XP_016883164.1  ADP-ribose glycohydrolase MACROD2 isoform X2

  3. XM_017027676.1XP_016883165.1  ADP-ribose glycohydrolase MACROD2 isoform X3

    Conserved Domains (1) summary
    COG5271
    Location:62219
    MDN1; Midasin, AAA ATPase with vWA domain, involved in ribosome maturation [Translation, ribosomal structure and biogenesis]
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