RNASEH2C - ribonuclease H2 subunit C Gene

Homo sapiens

Also known as AGS3; AYP1

Gene ID: 84153 | Gene type: protein coding

About RNASEH2C

Cytogenetic location: 11q13.1 Genomic coordinates (GRCh38): 11:65,717,673-65,720,798 (from NCBI)

This gene has 13 transcripts (splice variants), 87 orthologues and is associated with 3 phenotypes. Ubiquitous expression in bone marrow (RPKM 17.9), endometrium (RPKM 15.2) and 25 other tissues.

Summary

This gene encodes a ribonuclease H subunit that can cleave ribonucleotides from RNA:DNA duplexes. Mutations in this gene cause Aicardi-Goutieres syndrome-3, a disease that causes severe neurologic dysfunction. A pseudogene for this gene has been identified on chromosome Y, near the sex determining region Y (SRY) gene. [provided by RefSeq, Jul 2008]

RNASEH2C Products(1)

mRNA	Protein	Name
NM_032193.4	NP_115569.2	ribonuclease H2 subunit C

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	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

RNASEH2C Protein Structure

RNase_H2_suC

0
100
164 a.a.

Protein Preferred Names

Protein Names

ribonuclease H2 subunit C

RNase H1 small subunit

Related Diseases

Diseases

Alias

Aicardi-Goutieres Syndrome 3

AGS3	Pseudo-Torch Syndrome
Cree Encephalitis	Aicardi-Goutieres Syndrome, Type 3
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

Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities

NEDFASB

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

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

Immunodeficiency 15a

IMD15A

Chilblain Lupus 1

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

Torch Syndrome

Basal Ganglia Disease

Basal Ganglia Diseases	Basal Ganglia Disorders
Abnormality Of The Basal Ganglia

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

Transient Neonatal Thrombocytopenia

Transient Neonatal Neutropenia

Basal Ganglia Calcification

Fahr'S Syndrome	Fahr'S Disease
Fahr Disease

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

Immunodeficiency 26

Severe Combined Immunodeficiency Due To Dna-Pkcs Deficiency	Scid Due To Dna-Pkcs Deficiency
Imd26	Immunodeficiency 26, With Or Without Neurologic Abnormalities

Cutaneous Lupus Erythematosus

Lupus Erythematosus, Cutaneous

Lupus Erythematosus Cutaneous

Visual Cortex Disease

Visual Cortex Dysfunction	Visual Cortex Disorder
Visual Cortical Disorder	Disease Of Visual Cortex

Mitochondrial Dna Depletion Syndrome 13

MTDPS13	Fbxl4 Deficiency
Fbxl4-Related Encephalomyopathic Mitochondrial Dna Depletion Syndrome	Mitochondrial Dna Depletion Syndrome 13, Encephalomyopathic Type
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Variable Craniofacial Anomalies	Mtdna Depletion Syndrome, Encephalomyopathic Form With Variable Craniofacial Anomalies
Fbxl4-Related Early-Onset Mitochondrial Encephalopathy	Mitochondrial Dna Depletion Syndrome 13 , Encephalomyopathic Type
Bxl4-Related Early-Onset Mitochondrial Encephalopathy	Encephalomyopathic Mitochondrial Dna Depletion Syndrome-13
Fbxl4-Related Early Onset Mitochondrial Encephalopathy	Mitochondrial Dna Depletion Syndrome, Type 13

Visual Pathway Disease

Disorder Of Visual Pathways

Mitochondrial Dna Depletion Syndrome 3

Deoxyguanosine Kinase Deficiency	Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form
MTDPS3	Dguok Deficiency
Dguok-Related Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form	Dguok-Related Mitochondrial Dna Depletion Syndrome
Hepatocerebral Mitochondrial Dna Depletion Syndrome	Mtdna Depletion Syndrome, Hepatocerebral Form
Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form Due To Dguok Deficiency	Hepatocerebral Mitochondrial Dna Deletions Syndrome Autosomal Recessive
Mitochondrial Dna Depletion Syndrome 3 Hepatocerebral Type	Mitochondrial Dna Depletion Syndrome , Type 3

Gluten Allergy

Allergy To Gluten

Gluten Allergic Reaction

Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay

SIFD	Congenital Sideroblastic Anemia-B-Cell Immunodeficiency-Periodic Fever-Developmental Delay Syndrome
Sifd Syndrome

Cortical Blindness

Blindness, Cortical

Dystonia

Dystonic Disease	Dystonic Disorder
Dystonia Disorders	Neuroleptic Dyskinesia

Thrombocytopenia

Low Platelet Count	Low Platelets
Decreased Platelets	Platelet Dysfunction Nos

Microcephaly

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

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-RS12027	RNASEH2C Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	RNASEH2C	VGNC	VGNC:104323
Canis familiaris	RNASEH2C	VGNC	VGNC:45614
Mus musculus	RNASEH2C	MGD	MGI:1915459
Rattus norvegicus	RNASEH2C	RGD	RGD:2319141
Bos taurus	RNASEH2C	VGNC	VGNC:34001

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