RNASEH2A (ribonuclease H2 subunit A)

2014-02-01  

Identity

HGNC
RNASEH2A
LOCATION
19p13.13
LOCUSID
10535
ALIAS
AGS4,JUNB,RNASEHI,RNHIA,RNHL,THSD8
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 10535
MIM: 606034
HGNC: 18518
Ensembl: ENSG00000104889

Variants:

dbSNP: 10535
ClinVar: 10535
TCGA: ENSG00000104889
COSMIC: RNASEH2A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000104889ENST00000221486O75792
ENSG00000104889ENST00000590121A0A2R8Y658
ENSG00000104889ENST00000646769A0A2R8Y606

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
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

Pathways

PathwaySourceExternal ID
DNA replicationKEGGko03030
DNA replicationKEGGhsa03030

References

Pubmed IDYearTitleCitations
214545632011Functional consequences of the RNase H2A subunit mutations that cause Aicardi-Goutieres syndrome.17
305320302019Genome-wide CRISPR screens reveal synthetic lethality of RNASEH2 deficiency and ATR inhibition.17
276436932016Neurologic Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi-Goutières Syndrome and Beyond.15
249869202014Altered spatio-temporal dynamics of RNase H2 complex assembly at replication and repair sites in Aicardi-Goutières syndrome.13
306967382019Genome-Wide Profiling of Cervical RNA-Binding Proteins Identifies Human Papillomavirus Regulation of RNASEH2A Expression by Viral E7 and E2F1.13
257032922015The reverse transcriptase-RNase H: from viruses to antiviral defense.12
235923352013Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome.11
271767162016RNaseH2A is involved in human gliomagenesis through the regulation of cell proliferation and apoptosis.3
298433672018Prognostic Value of RNASEH2A-, CDK1-, and CD151-Related Pathway Gene Profiling for Kidney Cancers.0

Citation

Dessen P

RNASEH2A (ribonuclease H2 subunit A)

Atlas Genet Cytogenet Oncol Haematol. 2014-02-01

Online version: http://atlasgeneticsoncology.org/gene/53702/rnaseh2a