RNASEH2C - ribonuclease H2 subunit C Gene

Also Known as AGS3; AYP1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 84153

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	Références	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

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

Cellular Component GO Annotation	Evidence	Références	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

RNASEH2C Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
Intra	RNASEH2C	Q8TDP1	KIF1B	Homo sapiens	O60333-2	Y2H Pooling	32814053
Intra	RNASEH2C	Q8TDP1	KIF1B	Homo sapiens	O60333-2	Validated Y2H	32814053
Intra	RNASEH2C	Q8TDP1	KIF1B	Homo sapiens	O60333-2	Y2H Array	32814053
Intra	RNASEH2C	Q8TDP1	VAC14	Homo sapiens	Q08AM6	Y2H Prey Pooling	32296183
Intra	RNASEH2C	Q8TDP1	VAC14	Homo sapiens	Q08AM6	Y2H Array	32296183
Intra	RNASEH2C	Q8TDP1	HSPB1	Homo sapiens	P04792	Validated Y2H	32814053
Intra	RNASEH2C	Q8TDP1	HSPB1	Homo sapiens	P04792	Y2H Array	32814053
Intra	RNASEH2C	Q8TDP1	HSPB1	Homo sapiens	P04792	Y2H Pooling	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

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

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS12027	RNASEH2C Human Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	RNASEH2C	NCBI