RNASEH2B - ribonuclease H2 subunit B Gene

Homo sapiens

Also known as AGS2; DLEU8

Gene ID: 79621 | Gene type: protein coding

About RNASEH2B

Cytogenetic location: 13q14.3 Genomic coordinates (GRCh38): 13:50,909,678-50,970,460 (from NCBI)

This gene has 46 transcripts (splice variants), 224 orthologues and is associated with 3 phenotypes. Ubiquitous expression in bone marrow (RPKM 7.7), lymph node (RPKM 6.9) and 25 other tissues.

Summary

RNase H2 is composed of a single catalytic subunit (A) and two non-catalytic subunits (B and C) and specifically degrades the RNA of RNA:DNA hybrids. The protein encoded by this gene is the non-catalytic B subunit of RNase H2, which is thought to play a role in DNA replication. Multiple transcript variants encoding different isoforms have been found for this gene. Defects in this gene are a cause of Aicardi-Goutieres syndrome type 2 (AGS2). [provided by RefSeq, Nov 2008]

RNASEH2B Products(3)

mRNA	Protein	Name
NM_001142279.2	NP_001135751.1	ribonuclease H2 subunit B isoform 2
NM_001411023.1	NP_001397952.1	ribonuclease H2 subunit B isoform 3
NM_024570.4	NP_078846.2	ribonuclease H2 subunit B isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	30889214	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in RNA catabolic process	IDA IDA: Inferred from direct assay	21177858	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

RNASEH2B Protein Structure

RNase_H2-Ydr279

0
100
200
312 a.a.

Protein Preferred Names

Protein Names

ribonuclease H2 subunit B

Aicardi-Goutieres syndrome 2 protein

Related Diseases

Diseases

Alias

Aicardi-Goutieres Syndrome 2

AGS2	Pseudo-Torch Syndrome
Cree Encephalitis	Aicardi-Goutieres Syndrome, Type 2
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

Cerebral Palsy

Infantile Cerebral Palsy	Mixed Cerebral Palsy
Palsy Cerebral	Palsy, Cerebral
Cerebral Palsy, Mixed

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Nervous System Disease

Abnormality Of The Nervous System	Nervous System Diseases
Nervous System Disorder

Nodular Nonsuppurative Panniculitis

Weber-Christian Disease	Relapsing Febrile Nodular Nonsuppurative Panniculitis
Idiopathic Nodular Panniculitis	Pfeiffer-Weber-Christian Syndrome
Weber-Christian Panniculitis	Panniculitis, Nodular Nonsuppurative
Nodular Non-Suppurative Febrile Panniculitis	Weber - Christian Disease
Panniculitis Nodular Nonsuppurative	Nodular Non-Suppurative Panniculitis
Idiopathic Lobular Panniculitis	Relapsing Febrile Nodular Panniculitis
Wcd

Sting-Associated Vasculopathy With Onset In Infancy

Savi	Sting-Associated Vasculopathy, Infantile Onset
Sting-Associated Vasculopathy, Infantile-Onset

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

Chilblain Lupus 1

Chilblain Lupus	CHBL1
Chilblain Lupus Erythematosus	Chle
Hutchinson Lupus	Chilblain Lupus, Type 1

Basal Ganglia Disease

Basal Ganglia Diseases	Basal Ganglia Disorders
Abnormality Of The Basal Ganglia

Immunodeficiency 15a

IMD15A

Basal Ganglia Calcification

Fahr'S Syndrome	Fahr'S Disease
Fahr Disease

Torch Syndrome

Transient Neonatal Thrombocytopenia

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

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

Cutaneous Lupus Erythematosus

Lupus Erythematosus, Cutaneous

Lupus Erythematosus Cutaneous

Prolidase Deficiency

Hyperimidodipeptiduria	Imidodipeptidase Deficiency
Peptidase Deficiency	PD
Deficiency Of Prolidase	Imidodipeptiduria
Proline Dipeptidase Deficiency

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

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Thrombocytopenia

Low Platelet Count	Low Platelets
Decreased Platelets	Platelet Dysfunction Nos

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-RS12026	RNASEH2B Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	RNASEH2B	MGD	MGI:1914403
Macaca mulatta	RNASEH2B	VGNC	VGNC:76825
Bos taurus	RNASEH2B	VGNC	VGNC:107254
Felis catus	RNASEH2B	VGNC	VGNC:64658
Canis familiaris	RNASEH2B	VGNC	VGNC:45613
Rattus norvegicus	RNASEH2B	RGD	RGD:1359710

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