MACROD2
Homo sapiens
Gene Name: MACRO domain containing 2
Aliases: C20orf133
Chromosome No: 20
Chromosome Band: 20p12.1
Genetic Category: Genetic Association-Rare single gene variant
Aliases: C20orf133
Chromosome No: 20
Chromosome Band: 20p12.1
Genetic Category: Genetic Association-Rare single gene variant
Summary Statistics:
ASD Reports: 22
Recent Reports: 6
Annotated variants: 19
Associated CNVs: 7
Evidence score: 2
ASD Reports: 22
Recent Reports: 6
Annotated variants: 19
Associated CNVs: 7
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Genetic association has been found between the MACROD2 gene and autism in AGP, AGRE and SAGE cohorts (Anney et al., 2010). However, genetic association was not found between MACROD2 and autism in a large European population cohort (Curran et al., 2011).
Molecular Function
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.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Positive Association
Genome-Wide Association Study for Autism Spectrum Disorder in Taiwanese Han Population.
ASD
Positive Association
Phenome-wide association study (PheWAS) in EMR-linked pediatric cohorts, genetically links PLCL1 to speech language development and IL5-IL13 to Eos...
ASD
Positive Association
MACROD2 gene associated with autistic-like traits in a general population sample.
ALTs
Positive Association
Individual common variants exert weak effects on the risk for autism spectrum disorderspi.
ASD
Positive Association
Common genetic risk variants identified in the SPARK cohort support DDHD2 as a candidate risk gene for autism
ASD
Positive Association
Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with ...
ASD
Negative Association
Lack of replication of previous autism spectrum disorder GWAS hits in European populations.
ASD
Negative Association
The association of rs4307059 and rs35678 markers with autism spectrum disorders is replicated in Italian families.
ASD
Negative Association
No association between a common single nucleotide polymorphism, rs4141463, in the MACROD2 gene and autism spectrum disorder.
ASD
Support
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link wi...
Epilepsy
ADHD
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Support
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.
ASD
Support
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
ASD
Highly Cited
The C20orf133 gene is disrupted in a patient with Kabuki syndrome.
Recent Recommendation
Hotspots of large rare deletions in the human genome.
Recent Recommendation
Lack of C20orf133 and FLRT3 mutations in 43 patients with Kabuki syndrome in Japan.
Recent Recommendation
Identification of common genetic risk variants for autism spectrum disorder.
ASD
Recent recommendation
Biochemical and Morphological Characterization of a Neurodevelopmental Disorder-Related Mono-ADP-Ribosylhydrolase, MACRO Domain Containing 2.
Recent Recommendation
Genome-wide scan of healthy human connectome discovers SPON1 gene variant influencing dementia severity.
Recent Recommendation
Identification of macrodomain proteins as novel O-acetyl-ADP-ribose deacetylases.
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN148C002
intron_variant
rs4141463
c.418+81866T>C
A
AGP, AGRE, SAGE
Discovery
GEN148C003
intron_variant
rs6110458
c.418+197367C>T
Autism Genome Project (AGP)
Combined (Stages 1 and 2)
GEN148C004
intron_variant
rs14135
c.418+199551T>C
Autism Genome Project (AGP)
Combined (Stages 1 and 2)
GEN148C005
intron_variant
rs1475531
c.418+201817G>T
Autism Genome Project (AGP)
Combined (Stages 1 and 2)
GEN148C006
intron_variant
rs716316
c.418+243136C>T
601 cases, 1840 controls
Discovery
GEN148C007
intron_variant
rs4141463
c.418+81866T>C
Effect allele, T
965 individuals from the Western Australian Pregnancy Cohort (Raine) Study.
Discovery
GEN148C008
intron_variant
rs17263514
c.164-19716G>A
597 ASD cases, 1595 healthy controls (Taiwanese Han)
Discovery
GEN148C009
intron_variant
rs192259652
c.418+177262A>T
7387 ASD cases and 8567 controls from Autism Center of Excellence Network (ACE), Autism Genetic Resource Exchange (AGRE), Autism Genome Project (AGP), Finnish Case-Control ASD Collection, NIMH Repository and Montreal/Boston (MonBos) Collection, Population-Based Autism Genetics and Environment Study (PAGES), Simons Simplex Collection (SSC), and Weiss Laboratory Autism Collection
Discovery
GEN148C010
intron_variant
rs6079556
c.418+79618A>C
7387 ASD cases and 8567 controls from Autism Center of Excellence Network (ACE), Autism Genetic Resource Exchange (AGRE), Autism Genome Project (AGP), Finnish Case-Control ASD Collection, NIMH Repository and Montreal/Boston (MonBos) Collection, Population-Based Autism Genetics and Environment Study (PAGES), Simons Simplex Collection (SSC), and Weiss Laboratory Autism Collection
Discovery
GEN148C011
intron_variant
rs71190156
c.418+170662_418+170668delTTTTTTT
18,381 ASD cases and 27,969 controls from iPSYCH and the Psychiatric Genomic Consortium (PGC)
Discovery
GEN148C012
intron_variant
rs2224274
c.418+95142C>T
SPARK samples of European ancestry and iPSYCH-PGC samples (18,381 cases and 27,969 controls)
Discovery
