RNASEH2B - ribonuclease H2 subunit B Gene

Also Known as AGS2; DLEU8

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 79621

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	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	30889214	GOA

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

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

RNASEH2B Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	RNASEH2B	Q5TBB1	ZMYM3	Homo sapiens	Q14202	Anti Tag CoIP	30889214
Intra	RNASEH2B	Q5TBB1	ZMYM3	Homo sapiens	Q14202	Anti Bait CoIP	30889214

Cross: Cross-species interaction Intra: Intraspecies interaction

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

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 Set	/	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
Others	RNASEH2B	NCBI