MACROD2 (mono-ADP ribosylhydrolase 2)

2014-08-01  

Identity

HGNC
LOCATION
20p12.1
LOCUSID
ALIAS
C20orf133,C2orf133
FUSION GENES

Other Information

Locus ID:

NCBI: 140733
MIM: 611567
HGNC: 16126
Ensembl: ENSG00000172264

Variants:

dbSNP: 140733
ClinVar: 140733
TCGA: ENSG00000172264
COSMIC: MACROD2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000172264ENST00000217246A1Z1Q3
ENSG00000172264ENST00000378058A1Z1Q3
ENSG00000172264ENST00000402914A1Z1Q3
ENSG00000172264ENST00000407045A1Z1Q3
ENSG00000172264ENST00000642719A0A2R8YFN3

Expression (GTEx)

0
5
10
15

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
206639232010A genome-wide scan for common alleles affecting risk for autism.239
206639232010A genome-wide scan for common alleles affecting risk for autism.239
198479242010Detecting rare variants for complex traits using family and unrelated data.79
192400612009Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.75
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
200445232010Genome-wide association studies of MRI-defined brain infarcts: meta-analysis from the CHARGE Consortium.43
254224312014MACROD2 overexpression mediates estrogen independent growth and tamoxifen resistance in breast cancers.19
253606062014MACROD2 gene associated with autistic-like traits in a general population sample.17
216569032011No association between a common single nucleotide polymorphism, rs4141463, in the MACROD2 gene and autism spectrum disorder.15
189876182009Screening for replication of genome-wide SNP associations in sporadic ALS.14

Citation

Dessen P

MACROD2 (mono-ADP ribosylhydrolase 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54439/macrod2