MACROD2 (mono-ADP ribosylhydrolase 2)

2014-08-01  

Identity

HGNC
MACROD2
LOCATION
20p12.1
LOCUSID
140733
ALIAS
C20orf133,C2orf133
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

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/gene-fusions-explorer/css/lib/bootstrap.min.css