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

    Gene ID: 140733, updated on 13-Apr-2024

    Summary

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    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; AllianceGenome:HGNC:16126
    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
    mouse all
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    Genomic context

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    Location:
    20p12.1
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (13995516..16053197)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (14044768..16102640)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (13976162..16033842)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene tRNA-Glu (CTC) 10-1 Neighboring gene SEL1L2 adaptor subunit of SYVN1 ubiquitin ligase Neighboring gene RNA, U6 small nuclear 278, pseudogene Neighboring gene ribosomal protein S3 pseudogene 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:14200853-14201581 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 H3K4me1 hESC enhancer GRCh37_chr20:14447417-14447918 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:14447919-14448418 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr20:14451799-14452358 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_59600 Neighboring gene uncharacterized LOC124904873 Neighboring gene fibronectin leucine rich transmembrane protein 3 Neighboring gene MACROD2 intronic transcript 1 Neighboring gene ring finger protein 11 pseudogene 2 Neighboring gene NANOG hESC enhancer GRCh37_chr20:14695990-14696491 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12681 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17553 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr20:14840969-14841588 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17554 Neighboring gene MACROD2 antisense RNA 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr20:14900087-14900936 Neighboring gene ribosomal protein S10 pseudogene 2 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_59609 Neighboring gene RNA, U6 small nuclear 1159, pseudogene Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_59643 Neighboring gene RNA, U6 small nuclear 115, pseudogene Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_59649 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_59671 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17555 Neighboring gene NANOG hESC enhancer GRCh37_chr20:15316554-15317055 Neighboring gene RNA, 5S ribosomal pseudogene 475 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17556 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr20:15542248-15542790 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr20:15608178-15608731 Neighboring gene endosulfine alpha pseudogene 1 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_59806 Neighboring gene NANOG hESC enhancer GRCh37_chr20:15869460-15869961 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17557 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17558 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17559 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17560 Neighboring gene uncharacterized LOC613266 Neighboring gene uncharacterized LOC124904874 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:16187279-16187780 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:16187781-16188280 Neighboring gene peptidylprolyl isomerase A pseudogene 17

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Human papillomavirus (HPV) integration signature in cervical lesions: identification of MACROD2 gene as HPV hot spot integration site. Zhao J, et al. Arch Gynecol Obstet, 2023 Apr. PMID 36008642
    2. Association of the MACROD2 rs6110695 A>G polymorphism with an increasing WBC count in a Korean population. Yang J, et al. Immun Inflamm Dis, 2022 Jul. PMID 35759225, Free PMC Article
    3. Association of MACROD2 gene variants with obesity and physical activity in a Korean population. Kim HR, et al. Mol Genet Genomic Med, 2021 Apr. PMID 33624934, Free PMC Article
    4. Human papilloma virus (HPV) integration signature in Cervical Cancer: identification of MACROD2 gene as HPV hot spot integration site. Kamal M, et al. Br J Cancer, 2021 Feb. PMID 33191407, Free PMC Article
    5. Intragenic Deletion in MACROD2: A Family with Complex Phenotypes Including Microcephaly, Intellectual Disability, Polydactyly, Renal and Pancreatic Malformations. Lombardo B, et al. Cytogenet Genome Res, 2019. PMID 31055587

    See all (44) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Genome-Wide Meta-Analysis Identifies Multiple Novel Rare Variants to Predict Common Human Infectious Diseases Risk.
      Title: Genome-Wide Meta-Analysis Identifies Multiple Novel Rare Variants to Predict Common Human Infectious Diseases Risk.
    2. Human papillomavirus (HPV) integration signature in cervical lesions: identification of MACROD2 gene as HPV hot spot integration site.
      Title: Human papillomavirus (HPV) integration signature in cervical lesions: identification of MACROD2 gene as HPV hot spot integration site.
    3. Association of the MACROD2 rs6110695 A>G polymorphism with an increasing WBC count in a Korean population.
      Title: Association of the MACROD2 rs6110695 A>G polymorphism with an increasing WBC count in a Korean population.
    4. Association of MACROD2 gene variants with obesity and physical activity in a Korean population.
      Title: Association of MACROD2 gene variants with obesity and physical activity in a Korean population.
    5. Human papilloma virus (HPV) integration signature in Cervical Cancer: identification of MACROD2 gene as HPV hot spot integration site.
      Title: Human papilloma virus (HPV) integration signature in Cervical Cancer: identification of MACROD2 gene as HPV hot spot integration site.
    6. Comparative analysis of MACROD1, MACROD2 and TARG1 expression, localisation and interactome.
      Title: Comparative analysis of MACROD1, MACROD2 and TARG1 expression, localisation and interactome.
    7. Study identifies MACROD2 deletion as a cause of chromosome instability (CIN) in human colorectal cancer. MACROD2 loss causes repression of PARP1 activity, impairing DNA repair. MACROD2 haploinsufficiency promotes CIN and intestinal tumor growth. These results reveal MACROD2 as a major caretaker tumor suppressor gene in intestinal neoplasm.
      Title: MACROD2 Haploinsufficiency Impairs Catalytic Activity of PARP1 and Promotes Chromosome Instability and Growth of Intestinal Tumors.
    8. A deletion of chromosome 20p12.1 involving the macrodomain containing 2/mono-ADP ribosylhydrolase 2 gene (MACROD2) was found in several members of the family with complex phenotypes, including microcephaly, intellectual disability, dysmorphic features, and polydactyly. This deletion may affect correct embryonic development. Associated epigenetic modifications at the MACROD2 locus, can influence the phenotype severity.
      Title: Intragenic Deletion in MACROD2: A Family with Complex Phenotypes Including Microcephaly, Intellectual Disability, Polydactyly, Renal and Pancreatic Malformations.
    9. In patients with Graves' disease, a common genetic variant in MACROD2 may increase susceptibility for thyroid-associated orbitopathy.
      Title: Association of Polymorphisms in MACRO Domain Containing 2 With Thyroid-Associated Orbitopathy.
    10. ATM induces MacroD2 nuclear export upon DNA damage.
      Title: ATM induces MacroD2 nuclear export upon DNA damage.
    Submit: New GeneRIF Correction See all GeneRIFs (20)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.
    EBI GWAS Catalog
    A genome-wide scan for common alleles affecting risk for autism.
    EBI GWAS Catalog
    Common body mass index-associated variants confer risk of extreme obesity.
    EBI GWAS Catalog
    Genetic variants associated with disordered eating.
    EBI GWAS Catalog
    Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
    EBI GWAS Catalog
    Genome-wide association study identifies candidate genes for male fertility traits in humans.
    EBI GWAS Catalog
    Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease.
    EBI GWAS Catalog
    Genome-wide association study of antiphospholipid antibodies.
    EBI GWAS Catalog
    Genome-wide scan of healthy human connectome discovers SPON1 gene variant influencing dementia severity.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog
    Two-marker association tests yield new disease associations for coronary artery disease and hypertension.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

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

    General protein information

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    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
    NP_001028259.1
    NP_001338590.1
    NP_001338592.1
    NP_001338593.1
    NP_542407.2
    XP_016883164.1
    XP_016883165.1
    XP_024307602.1
    XP_054178994.1
    XP_054178995.1
    XP_054178996.1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001033087.2 → NP_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_001351661.2 → NP_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
      Consensus CDS
      CCDS93008.1
      UniProtKB/TrEMBL
      A0A2R8YFN3
      Related
      ENSP00000507484.1, ENST00000684519.1
      Conserved Domains (2) summary
      cd02908
      Location:71 → 237
      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:263 → 448
      MDN1; Midasin, AAA ATPase with vWA domain, involved in ribosome maturation [Translation, ribosomal structure and biogenesis]

    3. NM_001351663.2 → NP_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
      UniProtKB/TrEMBL
      A0A2R8YFN3
      Conserved Domains (2) summary
      cd02908
      Location:71 → 237
      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:258 → 442
      MDN1; Midasin, AAA ATPase with vWA domain, involved in ribosome maturation [Translation, ribosomal structure and biogenesis]

    4. NM_001351664.2 → NP_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_080676.6 → NP_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, A6NFF7, B0QZ39, B3KWV0, Q0P6D5, Q495E0, Q5W199, Q6ZN71
      UniProtKB/TrEMBL
      A0A2R8YFN3
      Related
      ENSP00000217246.4, ENST00000217246.8
      Conserved Domains (2) summary
      cd02908
      Location:71 → 237
      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:263 → 420
      MDN1; Midasin, AAA ATPase with vWA domain, involved in ribosome maturation [Translation, ribosomal structure and biogenesis]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_024451834.2 → XP_024307602.1  ADP-ribose glycohydrolase MACROD2 isoform X1

      Conserved Domains (1) summary
      COG5271
      Location:49 → 272
      MDN1; Midasin, AAA ATPase with vWA domain, involved in ribosome maturation [Translation, ribosomal structure and biogenesis]

    2. XM_017027675.2 → XP_016883164.1  ADP-ribose glycohydrolase MACROD2 isoform X2

    3. XM_017027676.2 → XP_016883165.1  ADP-ribose glycohydrolase MACROD2 isoform X3

      Conserved Domains (1) summary
      COG5271
      Location:62 → 219
      MDN1; Midasin, AAA ATPase with vWA domain, involved in ribosome maturation [Translation, ribosomal structure and biogenesis]

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791811.1 Reference GRCh38.p14 PATCHES

      Range
      209125..248432
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      14044768..16102640
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054323019.1 → XP_054178994.1  ADP-ribose glycohydrolase MACROD2 isoform X1

    2. XM_054323020.1 → XP_054178995.1  ADP-ribose glycohydrolase MACROD2 isoform X2

    3. XM_054323021.1 → XP_054178996.1  ADP-ribose glycohydrolase MACROD2 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A1Z1Q3.2 GenPept UniProtKB/Swiss-Prot:A1Z1Q3

    Gene LinkOut

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