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Aliases for MACROD2 Gene

Aliases for MACROD2 Gene

  • MACRO Domain Containing 2 2 3 5
  • [Protein ADP-Ribosylglutamate] Hydrolase 3 4
  • MACRO Domain-Containing Protein 2 3 4
  • C20orf133 3 4
  • O-Acetyl-ADP-Ribose Deacetylase MACROD2 3
  • Chromosome 20 Open Reading Frame 133 2
  • EC 3.2.2.- 4
  • EC 3.5.1.- 4
  • C2orf133 3

External Ids for MACROD2 Gene

Previous HGNC Symbols for MACROD2 Gene

  • C20orf133

Summaries for MACROD2 Gene

Entrez Gene Summary for MACROD2 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]

GeneCards Summary for MACROD2 Gene

MACROD2 (MACRO Domain Containing 2) is a Protein Coding gene. Diseases associated with MACROD2 include Hypogonadotropic Hypogonadism 21 With Or Without Anosmia and Kabuki Syndrome 1. Gene Ontology (GO) annotations related to this gene include hydrolase activity, acting on glycosyl bonds and deacetylase activity. An important paralog of this gene is MACROD1.

UniProtKB/Swiss-Prot for MACROD2 Gene

  • Removes ADP-ribose from glutamate residues in proteins bearing a single ADP-ribose moiety. Inactive towards proteins bearing poly-ADP-ribose. Deacetylates O-acetyl-ADP ribose, a signaling molecule generated by the deacetylation of acetylated lysine residues in histones and other proteins.

Additional gene information for MACROD2 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MACROD2 Gene

Genomics for MACROD2 Gene

GeneHancer (GH) Regulatory Elements for MACROD2 Gene

Promoters and enhancers for MACROD2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J013994 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 650.7 +0.3 332 1.8 PKNOX1 CLOCK FOXA2 ARNT ARID4B SIN3A KLF14 ZNF335 GLIS2 KLF7 SEL1L2 MACROD2
GH20J014285 Enhancer 0.4 FANTOM5 dbSUPER 1.5 +290.8 290750 0.3 MACROD2 FLRT3 RN7SL864P GC20M014272
GH20J013990 Enhancer 0.4 ENCODE 0.7 -4.9 -4917 0.7 RFX1 BMI1 TRE-CTC10-1 SEL1L2 MACROD2
GH20J014332 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 0.1 +340.1 340115 5.6 PKNOX1 ARID4B SIN3A ZNF2 ZNF48 YY1 ZNF213 ZNF143 ATF7 NFKBIZ FLRT3 GAPDHP2 TASP1 GC20M014272 RN7SL864P MACROD2
GH20J014093 Enhancer 0.5 ENCODE 0.2 +98.5 98481 0.1 GATA3 FOXA2 DPF2 FOXA1 GC20P014119 RPS3P1 MACROD2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MACROD2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MACROD2 gene promoter:
  • POU6F1 (c2)
  • MRF-2
  • Nkx2-5
  • POU3F2
  • MIF-1
  • Msx-1
  • LCR-F1
  • Pax-4a
  • TBP
  • FOXJ2 (long isoform)

Genomic Locations for MACROD2 Gene

Genomic Locations for MACROD2 Gene
2,057,829 bases
Plus strand
2,057,828 bases
Plus strand

Genomic View for MACROD2 Gene

Genes around MACROD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MACROD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MACROD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MACROD2 Gene

Proteins for MACROD2 Gene

  • Protein details for MACROD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    O-acetyl-ADP-ribose deacetylase MACROD2
    Protein Accession:
    Secondary Accessions:
    • A6NFF7
    • B0QZ39
    • B3KWV0
    • Q0P6D5
    • Q495E0
    • Q5W199
    • Q6ZN71

    Protein attributes for MACROD2 Gene

    448 amino acids
    Molecular mass:
    50050 Da
    Quaternary structure:
    • Interacts with ADP-ribosylated PARP1.
    • Sequence=BAD18504.1; Type=Frameshift; Positions=151; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MACROD2 Gene

    Alternative splice isoforms for MACROD2 Gene


neXtProt entry for MACROD2 Gene

Post-translational modifications for MACROD2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MACROD2 Gene

Domains & Families for MACROD2 Gene

Gene Families for MACROD2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for MACROD2 Gene


Suggested Antigen Peptide Sequences for MACROD2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with MACROD2: view

No data available for UniProtKB/Swiss-Prot for MACROD2 Gene

Function for MACROD2 Gene

Molecular function for MACROD2 Gene

UniProtKB/Swiss-Prot Function:
Removes ADP-ribose from glutamate residues in proteins bearing a single ADP-ribose moiety. Inactive towards proteins bearing poly-ADP-ribose. Deacetylates O-acetyl-ADP ribose, a signaling molecule generated by the deacetylation of acetylated lysine residues in histones and other proteins.
UniProtKB/Swiss-Prot EnzymeRegulation:
Subject to product inhibition by ADP-ribose.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=107 uM for O-acetyl-ADP-ribose {ECO:0000269 PubMed:21257746};

Enzyme Numbers (IUBMB) for MACROD2 Gene

Phenotypes From GWAS Catalog for MACROD2 Gene

Gene Ontology (GO) - Molecular Function for MACROD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016787 hydrolase activity IEA --
GO:0016798 hydrolase activity, acting on glycosyl bonds IDA 23474712
GO:0019213 deacetylase activity IDA 21257746
genes like me logo Genes that share ontologies with MACROD2: view
genes like me logo Genes that share phenotypes with MACROD2: view

Animal Models for MACROD2 Gene

MGI Knock Outs for MACROD2:

Animal Model Products

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MACROD2 Gene

Localization for MACROD2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MACROD2 Gene

Nucleus. Note=Recruited to DNA lesions, probably via mono-APD-ribosylated proteins.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MACROD2 gene
Compartment Confidence
nucleus 5
cytoskeleton 4
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (3)
  • Nucleus (3)
  • Centrosome (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MACROD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 23474712
GO:0005730 nucleolus IDA --
GO:0005813 centrosome IDA --
genes like me logo Genes that share ontologies with MACROD2: view

Pathways & Interactions for MACROD2 Gene

SuperPathways for MACROD2 Gene

No Data Available

Interacting Proteins for MACROD2 Gene

Gene Ontology (GO) - Biological Process for MACROD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006974 cellular response to DNA damage stimulus IMP 23474712
GO:0007420 brain development IEA --
GO:0042278 purine nucleoside metabolic process IDA 21257746
GO:0051725 protein de-ADP-ribosylation IDA 23474712
genes like me logo Genes that share ontologies with MACROD2: view

No data available for Pathways by source and SIGNOR curated interactions for MACROD2 Gene

Drugs & Compounds for MACROD2 Gene

No Compound Related Data Available

Transcripts for MACROD2 Gene

mRNA/cDNA for MACROD2 Gene

(8) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(5) Selected AceView cDNA sequences:
(15) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MACROD2 Gene

MACRO domain containing 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MACROD2 Gene

No ASD Table

Relevant External Links for MACROD2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for MACROD2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MACROD2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MACROD2 Gene

This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (x5.1).

Protein differential expression in normal tissues from HIPED for MACROD2 Gene

This gene is overexpressed in Fetal Brain (20.4), Spinal cord (12.1), Ovary (8.0), Retina (7.9), and Testis (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MACROD2 Gene

Protein tissue co-expression partners for MACROD2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MACROD2 Gene:


SOURCE GeneReport for Unigene cluster for MACROD2 Gene:


Evidence on tissue expression from TISSUES for MACROD2 Gene

  • Lung(4.2)
  • Liver(4)
genes like me logo Genes that share expression patterns with MACROD2: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MACROD2 Gene

Orthologs for MACROD2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MACROD2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia MACROD2 34 33
  • 99.06 (n)
(Canis familiaris)
Mammalia MACROD2 33
  • 89.76 (n)
(Mus musculus)
Mammalia Macrod2 16 34 33
  • 84.96 (n)
(Rattus norvegicus)
Mammalia Macrod2 33
  • 83.46 (n)
(Gallus gallus)
Aves LOC421259 33
  • 71.75 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia macrod2 33
  • 71.43 (n)
(Danio rerio)
Actinopterygii macrod1 34
  • 44 (a)
(Caenorhabditis elegans)
Secernentea B0035.3 34 33
  • 52.7 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G40600 33
  • 56.6 (n)
(Oryza sativa)
Liliopsida Os03g0336500 33
  • 51.83 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 53 (a)
Species where no ortholog for MACROD2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MACROD2 Gene

Gene Tree for MACROD2 (if available)
Gene Tree for MACROD2 (if available)
Evolutionary constrained regions (ECRs) for MACROD2: view image

Paralogs for MACROD2 Gene

Paralogs for MACROD2 Gene

(1) SIMAP similar genes for MACROD2 Gene using alignment to 1 proteins:

  • MACD2_HUMAN Pseudogenes for MACROD2 Gene

genes like me logo Genes that share paralogs with MACROD2: view

Variants for MACROD2 Gene

Sequence variations from dbSNP and Humsavar for MACROD2 Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs398124651 risk-factor, HYPOGONADOTROPIC HYPOGONADISM 21 WITH ANOSMIA, SUSCEPTIBILITY TO 14,327,217(+) T/C genic_upstream_transcript_variant, intron_variant
rs398124652 risk-factor, HYPOGONADOTROPIC HYPOGONADISM 21 WITH ANOSMIA, SUSCEPTIBILITY TO 14,327,076(+) C/A genic_upstream_transcript_variant, intron_variant
rs398124653 risk-factor, HYPOGONADOTROPIC HYPOGONADISM 21 WITH ANOSMIA, SUSCEPTIBILITY TO 14,327,302(+) G/T genic_upstream_transcript_variant, intron_variant
rs398124654 pathogenic, Hypogonadotropic hypogonadism 21 with or without anosmia 14,326,491(+) T/C genic_upstream_transcript_variant, intron_variant
rs8120693 likely-benign, not provided 14,326,378(+) C/T genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for MACROD2 Gene

Variant ID Type Subtype PubMed ID
dgv1228e212 CNV loss 25503493
dgv1229e212 CNV loss 25503493
dgv1230e212 CNV loss 25503493
dgv1231e212 CNV loss 25503493
dgv1232e212 CNV loss 25503493
dgv1233e212 CNV loss 25503493
dgv169e55 CNV loss 17911159
dgv2215n106 CNV deletion 24896259
dgv2216n106 CNV deletion 24896259
dgv2217n106 CNV deletion 24896259
dgv2405e59 CNV insertion 20981092
dgv241n21 CNV loss 19592680
dgv242n21 CNV loss 19592680
dgv243n21 CNV loss 19592680
dgv4249n100 CNV loss 25217958
dgv4250n100 CNV loss 25217958
dgv4251n100 CNV loss 25217958
dgv4252n100 CNV loss 25217958
dgv4253n100 CNV loss 25217958
dgv4254n100 CNV loss 25217958
dgv4255n100 CNV loss 25217958
dgv4256n100 CNV loss 25217958
dgv4257n100 CNV loss 25217958
dgv4258n100 CNV loss 25217958
dgv4259n100 CNV loss 25217958
dgv4260n100 CNV loss 25217958
dgv4261n100 CNV loss 25217958
dgv4262n100 CNV loss 25217958
dgv4263n100 CNV loss 25217958
dgv4264n100 CNV loss 25217958
dgv4265n100 CNV loss 25217958
dgv4266n100 CNV loss 25217958
dgv4267n100 CNV loss 25217958
dgv4268n100 CNV loss 25217958
dgv4269n100 CNV loss 25217958
dgv4270n100 CNV loss 25217958
dgv4271n100 CNV loss 25217958
dgv4272n100 CNV loss 25217958
dgv4273n100 CNV loss 25217958
dgv4274n100 CNV loss 25217958
dgv4275n100 CNV loss 25217958
dgv4276n100 CNV loss 25217958
dgv4277n100 CNV loss 25217958
dgv4278n100 CNV loss 25217958
dgv4279n100 CNV loss 25217958
dgv501n27 CNV loss 19166990
dgv502n27 CNV loss 19166990
dgv503n27 CNV loss 19166990
dgv504n27 CNV loss 19166990
dgv505n27 CNV loss 19166990
dgv506n27 CNV loss 19166990
dgv507n27 CNV loss 19166990
dgv695n67 CNV loss 20364138
dgv7463n54 CNV loss 21841781
dgv7464n54 CNV loss 21841781
dgv7465n54 CNV loss 21841781
dgv7466n54 CNV loss 21841781
dgv7467n54 CNV loss 21841781
dgv7468n54 CNV loss 21841781
dgv7469n54 CNV loss 21841781
dgv7470n54 CNV loss 21841781
dgv7471n54 CNV loss 21841781
dgv7472n54 CNV loss 21841781
dgv7473n54 CNV loss 21841781
dgv7474n54 CNV loss 21841781
dgv7475n54 CNV loss 21841781
dgv7476n54 CNV loss 21841781
dgv7477n54 CNV loss 21841781
dgv7478n54 CNV loss 21841781
dgv7479n54 CNV loss 21841781
dgv7480n54 CNV loss 21841781
dgv7481n54 CNV loss 21841781
dgv7482n54 CNV loss 21841781
dgv7483n54 CNV loss 21841781
dgv7484n54 CNV loss 21841781
dgv7485n54 CNV loss 21841781
dgv7486n54 CNV loss 21841781
dgv7487n54 CNV loss 21841781
dgv7488n54 CNV loss 21841781
dgv7489n54 CNV loss 21841781
dgv7490n54 CNV loss 21841781
dgv7491n54 CNV loss 21841781
dgv7492n54 CNV loss 21841781
dgv7493n54 CNV loss 21841781
dgv7494n54 CNV loss 21841781
dgv7495n54 CNV loss 21841781
dgv7496n54 CNV loss 21841781
dgv7497n54 CNV loss 21841781
dgv7498n54 CNV loss 21841781
dgv7499n54 CNV loss 21841781
dgv7500n54 CNV loss 21841781
dgv7501n54 CNV gain 21841781
dgv7502n54 CNV gain+loss 21841781
dgv7503n54 CNV loss 21841781
dgv7504n54 CNV loss 21841781
dgv7505n54 CNV loss 21841781
dgv7506n54 CNV loss 21841781
dgv774e214 CNV loss 21293372
dgv775e214 CNV loss 21293372
dgv776e214 CNV loss 21293372
dgv779e199 CNV deletion 23128226
dgv88n6 CNV deletion 16902084
dgv89n6 CNV deletion 16902084
esv1000354 CNV insertion 20482838
esv1002658 CNV deletion 20482838
esv1217837 CNV insertion 17803354
esv1265514 CNV insertion 17803354
esv1400419 CNV insertion 17803354
esv1561620 CNV deletion 17803354
esv1570507 CNV insertion 17803354
esv22137 CNV loss 19812545
esv23109 CNV loss 19812545
esv2388810 CNV deletion 18987734
esv2421979 CNV deletion 20811451
esv2422304 CNV deletion 17116639
esv2422391 CNV deletion 17116639
esv2448918 CNV deletion 19546169
esv24882 CNV gain 19812545
esv2547049 CNV insertion 19546169
esv2555217 CNV deletion 19546169
esv2577005 CNV deletion 19546169
esv2599745 CNV loss 19546169
esv2614095 CNV deletion 19546169
esv2642881 CNV deletion 19546169
esv2657546 CNV deletion 23128226
esv2658748 CNV deletion 23128226
esv2659814 CNV deletion 23128226
esv2661642 CNV deletion 23128226
esv2663535 CNV deletion 23128226
esv2665053 CNV deletion 23128226
esv2665319 CNV deletion 23128226
esv2666406 CNV deletion 23128226
esv2668253 CNV deletion 23128226
esv2669329 CNV deletion 23128226
esv2674269 CNV deletion 23128226
esv2674615 CNV deletion 23128226
esv2674804 CNV deletion 23128226
esv2674818 CNV deletion 23128226
esv2675282 CNV deletion 23128226
esv2676941 CNV deletion 23128226
esv2676974 CNV deletion 23128226
esv2677213 CNV deletion 23128226
esv2678466 CNV deletion 23128226
esv2678577 CNV deletion 23128226
esv26948 CNV loss 19812545
esv26952 CNV loss 19812545
esv2722204 CNV deletion 23290073
esv2722205 CNV deletion 23290073
esv2722207 CNV deletion 23290073
esv2722208 CNV deletion 23290073
esv2722209 CNV deletion 23290073
esv2722210 CNV deletion 23290073
esv2722211 CNV deletion 23290073
esv2722212 CNV deletion 23290073
esv2722213 CNV deletion 23290073
esv2722214 CNV deletion 23290073
esv2722215 CNV deletion 23290073
esv2722216 CNV deletion 23290073
esv2722218 CNV deletion 23290073
esv2722219 CNV deletion 23290073
esv2722220 CNV deletion 23290073
esv2722221 CNV deletion 23290073
esv2722222 CNV deletion 23290073
esv2722223 CNV deletion 23290073
esv2722224 CNV deletion 23290073
esv2722225 CNV deletion 23290073
esv2722226 CNV deletion 23290073
esv2722227 CNV deletion 23290073
esv2751906 CNV loss 17911159
esv2751908 CNV loss 17911159
esv2751909 CNV gain 17911159
esv275593 CNV loss 21479260
esv2758784 CNV loss 17122850
esv2758785 CNV loss 17122850
esv2758786 CNV loss 17122850
esv2760668 CNV loss 21179565
esv2760674 CNV loss 21179565
esv2762062 CNV loss 21179565
esv2762063 CNV loss 21179565
esv2763219 CNV loss 21179565
esv2763220 CNV gain 21179565
esv2763663 CNV loss 21179565
esv2763667 CNV loss 21179565
esv28313 CNV loss 19812545
esv2836 CNV loss 18987735
esv29353 CNV loss 19812545
esv29969 CNV gain 17803354
esv3302620 CNV tandem duplication 20981092
esv3303603 CNV mobile element insertion 20981092
esv3303991 CNV mobile element insertion 20981092
esv3307330 CNV mobile element insertion 20981092
esv3307670 CNV mobile element insertion 20981092
esv3308059 CNV mobile element insertion 20981092
esv3309222 CNV mobile element insertion 20981092
esv3331202 CNV insertion 20981092
esv3351346 CNV insertion 20981092
esv3359652 CNV insertion 20981092
esv33655 CNV gain 17666407
esv33865 CNV gain+loss 17666407
esv3397513 CNV insertion 20981092
esv3401574 CNV insertion 20981092
esv34049 CNV loss 18971310
esv3409883 CNV insertion 20981092
esv3412517 CNV insertion 20981092
esv3418640 CNV insertion 20981092
esv3425413 CNV insertion 20981092
esv34302 CNV loss 17911159
esv3434151 CNV insertion 20981092
esv3436117 CNV insertion 20981092
esv3438825 CNV insertion 20981092
esv3444 CNV loss 18987735
esv3450626 CNV insertion 20981092
esv34824 CNV loss 17911159
esv3556859 CNV deletion 23714750
esv3556861 CNV deletion 23714750
esv3556863 CNV deletion 23714750
esv3556864 CNV deletion 23714750
esv3556865 CNV deletion 23714750
esv3556867 CNV deletion 23714750
esv3556868 CNV deletion 23714750
esv3556869 CNV deletion 23714750
esv3556870 CNV deletion 23714750
esv3556872 CNV deletion 23714750
esv3556875 CNV deletion 23714750
esv3556876 CNV deletion 23714750
esv3567900 CNV loss 25503493
esv3567901 CNV loss 25503493
esv3567902 CNV loss 25503493
esv3567905 CNV loss 25503493
esv3567908 CNV loss 25503493
esv3584451 CNV loss 25503493
esv3584452 CNV loss 25503493
esv3584457 CNV loss 25503493
esv3584464 CNV loss 25503493
esv3584465 CNV loss 25503493
esv3584466 CNV loss 25503493
esv3584467 CNV loss 25503493
esv3584468 CNV loss 25503493
esv3584469 CNV loss 25503493
esv3645297 CNV loss 21293372
esv3645298 CNV loss 21293372
esv3645299 CNV loss 21293372
esv3645300 CNV loss 21293372
esv3645301 CNV loss 21293372
esv3645302 CNV loss 21293372
esv3645304 CNV loss 21293372
esv3645307 CNV loss 21293372
esv3645308 CNV loss 21293372
esv3645309 CNV loss 21293372
esv3645310 CNV gain 21293372
esv3645311 CNV loss 21293372
esv3645312 CNV loss 21293372
esv3645313 CNV gain 21293372
esv3645314 CNV loss 21293372
esv3645316 CNV loss 21293372
esv3645318 CNV loss 21293372
esv3645319 CNV loss 21293372
esv3645320 CNV loss 21293372
esv3645321 CNV loss 21293372
esv3645322 CNV loss 21293372
esv3645323 CNV loss 21293372
esv3645324 CNV loss 21293372
esv3645325 CNV loss 21293372
esv3645326 CNV loss 21293372
esv3645327 CNV loss 21293372
esv3645328 CNV loss 21293372
esv3645329 CNV gain 21293372
esv3645330 CNV loss 21293372
esv3645331 CNV loss 21293372
esv3645332 CNV loss 21293372
esv3645333 CNV loss 21293372
esv3645334 CNV loss 21293372
esv3645336 CNV loss 21293372
esv3645337 CNV loss 21293372
esv3645339 CNV loss 21293372
esv3645341 CNV gain 21293372
esv3645343 CNV loss 21293372
esv3645344 CNV loss 21293372
esv3645345 CNV loss 21293372
esv3645346 CNV loss 21293372
esv3645347 CNV loss 21293372
esv3645348 CNV loss 21293372
esv3645349 CNV loss 21293372
esv3645350 CNV loss 21293372
esv3645351 CNV loss 21293372
esv3645352 CNV loss 21293372
esv3645353 CNV loss 21293372
esv3645354 CNV loss 21293372
esv3645355 CNV loss 21293372
esv3645356 CNV loss 21293372
esv3645357 CNV loss 21293372
esv3645358 CNV loss 21293372
esv3645359 CNV loss 21293372
esv3645360 CNV loss 21293372
esv3645363 CNV loss 21293372
esv3645365 CNV loss 21293372
esv3645366 CNV loss 21293372
esv3645367 CNV gain 21293372
esv3645368 CNV loss 21293372
esv3645369 CNV loss 21293372
esv3645370 CNV loss 21293372
esv3645373 CNV gain 21293372
esv3645374 CNV loss 21293372
esv3645375 CNV loss 21293372
esv3645377 CNV loss 21293372
esv3645382 CNV loss 21293372
esv3645388 CNV loss 21293372
esv3645390 CNV loss 21293372
esv3893289 CNV gain 25118596
esv3893290 CNV gain 25118596
esv3893291 CNV loss 25118596
esv3893293 CNV loss 25118596
esv3893294 CNV loss 25118596
esv3893295 CNV loss 25118596
esv3893296 CNV loss 25118596
esv3893297 CNV loss 25118596
esv3893298 CNV loss 25118596
esv3893299 CNV loss 25118596
esv3893300 CNV loss 25118596
esv3893301 CNV loss 25118596
esv3893302 CNV loss 25118596
esv3893305 CNV loss 25118596
esv3893306 CNV loss 25118596
esv3893307 CNV loss 25118596
esv3893308 CNV loss 25118596
esv3893309 CNV loss 25118596
esv3893310 CNV loss 25118596
esv3893311 CNV loss 25118596
esv3893312 CNV loss 25118596
esv3893313 CNV loss 25118596
esv3893314 CNV loss 25118596
esv3893316 CNV loss 25118596
esv3893317 CNV loss 25118596
esv4540 CNV loss 18987735
esv6308 CNV loss 19470904
esv6820 CNV loss 19470904
esv7504 CNV gain 19470904
esv7873 OTHER inversion 19470904
esv8999 CNV loss 19470904
nsv1055269 CNV loss 25217958
nsv1055559 CNV loss 25217958
nsv1055668 CNV loss 25217958
nsv1055803 CNV loss 25217958
nsv1056797 CNV loss 25217958
nsv1057333 CNV gain 25217958
nsv1057672 CNV loss 25217958
nsv1058030 CNV loss 25217958
nsv1058120 CNV loss 25217958
nsv1058452 CNV loss 25217958
nsv1058629 CNV loss 25217958
nsv1058887 CNV gain 25217958
nsv1058890 CNV loss 25217958
nsv1059274 CNV loss 25217958
nsv1060511 CNV loss 25217958
nsv1061171 CNV loss 25217958
nsv1061301 CNV gain 25217958
nsv1061504 CNV loss 25217958
nsv1061573 CNV loss 25217958
nsv1061809 CNV loss 25217958
nsv1062048 CNV loss 25217958
nsv1062315 CNV loss 25217958
nsv1062907 CNV loss 25217958
nsv1063430 CNV loss 25217958
nsv1063702 CNV loss 25217958
nsv1063787 CNV loss 25217958
nsv1063917 CNV loss 25217958
nsv1064008 CNV loss 25217958
nsv1064383 CNV gain 25217958
nsv1064721 CNV loss 25217958
nsv1065548 CNV loss 25217958
nsv1066105 CNV loss 25217958
nsv1066112 CNV loss 25217958
nsv1066175 CNV loss 25217958
nsv1066764 CNV loss 25217958
nsv1067451 CNV loss 25217958
nsv1067561 CNV loss 25217958
nsv1070381 CNV deletion 25765185
nsv1071679 CNV deletion 25765185
nsv1072106 CNV deletion 25765185
nsv1072107 CNV deletion 25765185
nsv1073046 CNV deletion 25765185
nsv1073047 CNV deletion 25765185
nsv1109354 CNV deletion 24896259
nsv1110751 CNV insertion 24896259
nsv1110937 OTHER inversion 24896259
nsv1112785 CNV deletion 24896259
nsv1114197 CNV deletion 24896259
nsv1126591 CNV deletion 24896259
nsv1126887 CNV deletion 24896259
nsv1127815 CNV deletion 24896259
nsv1129214 CNV insertion 24896259
nsv1131571 CNV deletion 24896259
nsv1131572 CNV deletion 24896259
nsv1136341 CNV deletion 24896259
nsv1138922 CNV deletion 24896259
nsv1138923 CNV deletion 24896259
nsv1148312 CNV deletion 26484159
nsv1150321 CNV insertion 26484159
nsv1151337 CNV deletion 26484159
nsv1151731 CNV deletion 26484159
nsv1160676 CNV duplication 26073780
nsv179072 CNV deletion 16902084
nsv179622 CNV deletion 16902084
nsv179863 CNV deletion 16902084
nsv179889 CNV deletion 16902084
nsv180044 CNV deletion 16902084
nsv180164 CNV deletion 16902084
nsv185 CNV deletion 15895083
nsv3297 CNV insertion 18451855
nsv3300 CNV deletion 18451855
nsv3301 CNV deletion 18451855
nsv3302 CNV deletion 18451855
nsv3303 CNV deletion 18451855
nsv3304 CNV insertion 18451855
nsv433174 CNV loss 18776910
nsv433323 CNV loss 18776910
nsv435740 CNV deletion 17901297
nsv437184 CNV loss 16327808
nsv438308 CNV loss 16468122
nsv442480 CNV loss 18776908
nsv442778 CNV loss 18776908
nsv458872 CNV gain 19166990
nsv458882 CNV loss 19166990
nsv458888 CNV loss 19166990
nsv458889 CNV loss 19166990
nsv458909 CNV loss 19166990
nsv458911 CNV loss 19166990
nsv458916 CNV loss 19166990
nsv458917 CNV loss 19166990
nsv458920 CNV loss 19166990
nsv458922 CNV gain 19166990
nsv458923 CNV loss 19166990
nsv458927 CNV loss 19166990
nsv458928 CNV loss 19166990
nsv458930 CNV loss 19166990
nsv458932 CNV loss 19166990
nsv458933 CNV loss 19166990
nsv458934 CNV loss 19166990
nsv458935 CNV loss 19166990
nsv470540 CNV gain 18288195
nsv470541 CNV loss 18288195
nsv471816 CNV novel sequence insertion 20440878
nsv472548 CNV novel sequence insertion 20440878
nsv474405 CNV novel sequence insertion 20440878
nsv476110 CNV novel sequence insertion 20440878
nsv476851 CNV novel sequence insertion 20440878
nsv498967 CNV loss 21111241
nsv510484 OTHER sequence alteration 20534489
nsv511625 CNV loss 21212237
nsv512605 CNV loss 21212237
nsv514930 CNV loss 21397061
nsv514931 CNV loss 21397061
nsv514933 CNV loss 21397061
nsv514934 CNV loss 21397061
nsv516721 CNV loss 19592680
nsv517126 CNV loss 19592680
nsv517450 CNV loss 19592680
nsv517845 CNV loss 19592680
nsv517905 CNV loss 19592680
nsv518011 CNV loss 19592680
nsv518630 CNV gain 19592680
nsv518914 CNV loss 19592680
nsv519461 CNV loss 19592680
nsv519883 CNV gain 19592680
nsv520315 CNV loss 19592680
nsv520328 CNV loss 19592680
nsv520440 CNV loss 19592680
nsv522604 CNV loss 19592680
nsv522855 CNV loss 19592680
nsv523791 CNV loss 19592680
nsv524145 CNV loss 19592680
nsv524294 CNV loss 19592680
nsv524386 CNV loss 19592680
nsv524409 CNV loss 19592680
nsv524481 CNV loss 19592680
nsv524714 CNV loss 19592680
nsv526767 CNV loss 19592680
nsv526954 CNV loss 19592680
nsv528455 CNV loss 19592680
nsv585438 CNV loss 21841781
nsv585439 CNV gain 21841781
nsv585442 CNV loss 21841781
nsv585443 CNV loss 21841781
nsv585444 CNV loss 21841781
nsv585445 CNV gain 21841781
nsv585446 CNV loss 21841781
nsv585450 CNV loss 21841781
nsv585451 CNV loss 21841781
nsv585455 CNV loss 21841781
nsv585457 CNV loss 21841781
nsv585460 CNV loss 21841781
nsv585470 CNV loss 21841781
nsv585482 CNV loss 21841781
nsv585490 CNV loss 21841781
nsv585526 CNV loss 21841781
nsv585532 CNV loss 21841781
nsv585533 CNV loss 21841781
nsv585534 CNV loss 21841781
nsv585535 CNV loss 21841781
nsv585538 CNV loss 21841781
nsv585540 CNV loss 21841781
nsv585541 CNV loss 21841781
nsv585553 CNV loss 21841781
nsv585559 CNV loss 21841781
nsv585560 CNV loss 21841781
nsv585562 CNV gain 21841781
nsv585568 CNV loss 21841781
nsv585575 CNV loss 21841781
nsv585576 CNV loss 21841781
nsv585579 CNV loss 21841781
nsv585580 CNV loss 21841781
nsv585581 CNV loss 21841781
nsv585582 CNV loss 21841781
nsv585629 CNV loss 21841781
nsv585630 CNV loss 21841781
nsv585631 CNV loss 21841781
nsv585636 CNV gain 21841781
nsv585637 CNV gain 21841781
nsv585638 CNV loss 21841781
nsv585647 CNV loss 21841781
nsv585648 CNV loss 21841781
nsv585649 CNV loss 21841781
nsv817882 CNV loss 17921354
nsv817883 CNV loss 17921354
nsv817885 CNV loss 17921354
nsv817886 CNV loss 17921354
nsv820834 CNV deletion 20802225
nsv833926 CNV gain 17160897
nsv833927 CNV gain 17160897
nsv833928 CNV gain+loss 17160897
nsv833929 CNV gain 17160897
nsv952989 CNV deletion 24416366
nsv952990 CNV deletion 24416366
nsv954273 CNV deletion 24416366
nsv956191 CNV deletion 24416366
nsv956230 CNV deletion 24416366
nsv962559 CNV duplication 23825009
nsv964377 CNV duplication 23825009
nsv9789 CNV loss 18304495
nsv9790 CNV loss 18304495

Variation tolerance for MACROD2 Gene

Residual Variation Intolerance Score: 86.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.66; 91.41% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MACROD2 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MACROD2 Gene

Disorders for MACROD2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for MACROD2 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hypogonadotropic hypogonadism 21 with or without anosmia
  • hh21
kabuki syndrome 1
  • kabuk1
  • autistic disorder
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for MACROD2

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MACROD2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MACROD2 Gene

Publications for MACROD2 Gene

  1. A family of macrodomain proteins reverses cellular mono-ADP-ribosylation. (PMID: 23474712) Jankevicius G … Ladurner AG (Nature structural & molecular biology 2013) 3 4 58
  2. Identification of macrodomain proteins as novel O-acetyl-ADP-ribose deacetylases. (PMID: 21257746) Chen D … Ahel I (The Journal of biological chemistry 2011) 3 4 58
  3. Detecting rare variants for complex traits using family and unrelated data. (PMID: 19847924) Zhu X … Elston RC (Genetic epidemiology 2010) 3 44 58
  4. Genome-wide association studies of MRI-defined brain infarcts: meta-analysis from the CHARGE Consortium. (PMID: 20044523) Debette S … Longstreth WT (Stroke 2010) 3 44 58
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58

Products for MACROD2 Gene

Sources for MACROD2 Gene

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