RNASEH2A - ribonuclease H2 subunit A Gene

Homo sapiens

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

Gene ID: 10535 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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)

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

Bioactive Molecules (1)

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

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