1. Gene
  2. RNASEH2C - ribonuclease H2 subunit C Gene

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

RNASEH2C Protein Structure

RNase_H2_suC

RNase_H2_suC: Ribonuclease H2 non-catalytic subunit (Ylr154p-like) (28 - 157)

  • 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

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