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RNASEH2A - ribonuclease H2 subunit A Gene

Also Known as AGS4; JUNB; RNHL; RNHIA; THSD8; RNASEHI

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10535

About RNASEH2A

Cytogenetic location: 19p13.13 Genomic coordinates (GRCh38): 19:12,806,584-12,813,640 (from NCBI)

This gene has 6 transcripts (splice variants), 186 orthologues and is associated with 3 phenotypes. Ubiquitous expression in bone marrow (RPKM 7.3), testis (RPKM 7.2) and 25 other tissues.

Summary

The protein encoded by this gene is a component of the heterotrimeric type II ribonuclease H enzyme (RNAseH2). RNAseH2 is the major source of ribonuclease H activity in mammalian cells and endonucleolytically cleaves ribonucleotides. It is predicted to remove Okazaki fragment RNA primers during lagging strand DNA synthesis and to excise single ribonucleotides from DNA-DNA duplexes. Mutations in this gene cause Aicardi-Goutieres Syndrome (AGS), a an autosomal recessive neurological disorder characterized by progressive microcephaly and psychomotor retardation, intracranial calcifications, elevated levels of interferon-alpha and white blood cells in the cerebrospinal fluid.[provided by RefSeq, Aug 2009]

RNASEH2A Products (1)

mRNA	Protein	Name
NM_006397.3	NP_006388.2	ribonuclease H2 subunit A

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables RNA-DNA hybrid ribonuclease activity	IDA IDA: Inferred from direct assay	21177858	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	28514442	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in RNA catabolic process	IDA IDA: Inferred from direct assay	21177858	GOA
acts upstream of or within mismatch repair	IDA IDA: Inferred from direct assay	23603115	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of ribonuclease H2 complex	IDA IDA: Inferred from direct assay	21177858	GOA
part of ribonuclease H2 complex	IPI IPI: Inferred from physical interaction	21177858	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RNASEH2A Protein Structure

RNase_HII

0
100
200
299 a.a.

Protein Preferred Names	Protein Names
ribonuclease H2 subunit A	RNase H(35)

RNASEH2A Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P89970	RNase HII-A Antibody (YA9314)	WB, IP, ELISA	human

Related Diseases

Diseases	Alias
Aicardi-Goutieres Syndrome 4	AGS4 Pseudo-Torch Syndrome Cree Encephalitis Aicardi-Goutieres Syndrome, Type 4 Aicardi-Goutieres Syndrome 1
Aicardi-Goutieres Syndrome	Aicardi Goutieres Syndrome Cree Encephalitis Aicardi-Goutières Syndrome Encephalopathy With Basal Ganglia Calcification Ags Encephalopathy With Intracranial Calcification And Chronic Lymphocytosis Of Cerebrospinal Fluid Pseudotoxoplasmosis Syndrome Encephalopathy, Familial Infantile, With Calcification Of Basal Ganglia And Chronic Cerebrospinal Fluid Lymphocytosis Familial Infantile Encephalopathy With Intracranial Calcification And Chronic Cerebrospinal Fluid Lymphocytosis Aicardi-Goutieres Syndrome 1
Chilblain Lupus 1	Chilblain Lupus CHBL1 Chilblain Lupus Erythematosus Chle Hutchinson Lupus Chilblain Lupus, Type 1
Torch Syndrome
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations Crv Rvcl Rvcl-S Vasculopathy, Retinal, With Cerebral Leukodystrophy Retinopathy, Vascular, With Cerebral And Renal Involvement And Raynaud And Migraine Phenomena Retinal Vasculopathy With Cerebral Leukodystrophy Retinal Vasculopathy And Cerebral Leukoencephalopathy Hereditary Vascular Retinopathy Hvr RVCLS Cerebroretinal Vasculopathy, Hereditary Cerebroretinal Vasculopathy Herns Vasculopathy, Retinal, With Cerebral Leukodystrophy, Formerly Hereditary Cerebroretinal Vasculopathy Hereditary Endotheliopathy, Retinopathy, Nephropathy, Stroke Hereditary Systemic Angiopathy Hsa Retinal Vasculopathy With Cerebral Leukodystrophy With Systemic Manifestations Adrvcl Autosomal Dominant Retinal Vasculopathy With Cerebral Leukodystrophy Hereditary Endotheliopathy With Retinopathy-Nephropathy-Stroke Vascular Retinopathy With Cerebral And Renal Involvement And Raynaud And Migraine Phenomena
Sting-Associated Vasculopathy With Onset In Infancy	Savi Sting-Associated Vasculopathy, Infantile Onset Sting-Associated Vasculopathy, Infantile-Onset
Basal Ganglia Disease	Basal Ganglia Diseases Basal Ganglia Disorders Abnormality Of The Basal Ganglia
Basal Ganglia Calcification	Fahr'S Syndrome Fahr'S Disease Fahr Disease
Cutaneous Lupus Erythematosus	Lupus Erythematosus, Cutaneous Lupus Erythematosus Cutaneous
Dyschromatosis Symmetrica Hereditaria	Dyschromatosis Symmetrica Hereditaria 1 Reticulate Acropigmentation Of Dohi DSH Dsh1 Symmetric Dyschromatosis Of The Extremities Rad Familial Reticulate Acropigmentation Of Dohi Acropigmentation Of Dohi Symmetrical Dyschromatosis Of Extremities
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Immunodeficiency 38 With Basal Ganglia Calcification	Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Isg15 Deficiency IMD38 Immunodeficiency 38, Mycobacteriosis, Autosomal Recessive Immunodeficiency 38 Isg15 Deficiency, Autosomal Recessive Immunodeficiency 38, With Basal Ganglia Calcification Autosomal Recessive Isg15 Deficiency Msmd Due To Complete Isg15 Deficiency Immunodeficiency, Type 38
Visual Cortex Disease	Visual Cortex Dysfunction Visual Cortex Disorder Visual Cortical Disorder Disease Of Visual Cortex
Visual Pathway Disease	Disorder Of Visual Pathways
Dystonia	Dystonic Disease Dystonic Disorder Dystonia Disorders Neuroleptic Dyskinesia
Thrombocytopenia	Low Platelet Count Low Platelets Decreased Platelets Platelet Dysfunction Nos
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12025	RNASEH2A Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	RNASEH2A	VGNC	VGNC:45612
Mus musculus	RNASEH2A	MGD	MGI:1916974
Rattus norvegicus	RNASEH2A	RGD	RGD:1307248
Bos taurus	RNASEH2A	VGNC	VGNC:34000
Macaca mulatta	RNASEH2A	VGNC	VGNC:76766
Felis catus	RNASEH2A	VGNC	VGNC:64657
Others	RNASEH2A	NCBI