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
360086422023Human papillomavirus (HPV) integration signature in cervical lesions: identification of MACROD2 gene as HPV hot spot integration site.1
371081692023Genome-Wide Meta-Analysis Identifies Multiple Novel Rare Variants to Predict Common Human Infectious Diseases Risk.2
360086422023Human papillomavirus (HPV) integration signature in cervical lesions: identification of MACROD2 gene as HPV hot spot integration site.1
371081692023Genome-Wide Meta-Analysis Identifies Multiple Novel Rare Variants to Predict Common Human Infectious Diseases Risk.2
357592252022Association of the MACROD2 rs6110695 A>G polymorphism with an increasing WBC count in a Korean population.0
357592252022Association of the MACROD2 rs6110695 A>G polymorphism with an increasing WBC count in a Korean population.0
331914072021Human papilloma virus (HPV) integration signature in Cervical Cancer: identification of MACROD2 gene as HPV hot spot integration site.33
336249342021Association of MACROD2 gene variants with obesity and physical activity in a Korean population.6
331914072021Human papilloma virus (HPV) integration signature in Cervical Cancer: identification of MACROD2 gene as HPV hot spot integration site.33
336249342021Association of MACROD2 gene variants with obesity and physical activity in a Korean population.6
324278672020Comparative analysis of MACROD1, MACROD2 and TARG1 expression, localisation and interactome.17
324278672020Comparative analysis of MACROD1, MACROD2 and TARG1 expression, localisation and interactome.17
310555872019Intragenic Deletion in MACROD2: A Family with Complex Phenotypes Including Microcephaly, Intellectual Disability, Polydactyly, Renal and Pancreatic Malformations.9
310555872019Intragenic Deletion in MACROD2: A Family with Complex Phenotypes Including Microcephaly, Intellectual Disability, Polydactyly, Renal and Pancreatic Malformations.9
298805852018MACROD2 Haploinsufficiency Impairs Catalytic Activity of PARP1 and Promotes Chromosome Instability and Growth of Intestinal Tumors.30

Citation

Dessen P

MACROD2 (mono-ADP ribosylhydrolase 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54439/gene-fusions/cancer-prone-explorer/js/web-card-gene.js