Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	84153
Gene name	Ribonuclease H2 subunit C
Gene symbol	RNASEH2C
Synonyms (NCBI Gene)	AGS3AYP1
Chromosome	11
Chromosome location	11q13.1
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 identifie

Show/Hide all (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs76091978	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs78635798	G>A	Likely-pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs772940104	->C	Likely-pathogenic	Coding sequence variant, frameshift variant

Show/Hide all (76)

miRTarBase ID	miRNA	Experiments
MIRT1308726	hsa-miR-1179	CLIP-seq
MIRT1308727	hsa-miR-1266	CLIP-seq
MIRT1308728	hsa-miR-1303	CLIP-seq
MIRT1308729	hsa-miR-1972	CLIP-seq
MIRT1308730	hsa-miR-3130-5p	CLIP-seq
MIRT1308731	hsa-miR-3150a-3p	CLIP-seq
MIRT1308732	hsa-miR-3158-3p	CLIP-seq
MIRT1308733	hsa-miR-3175	CLIP-seq
MIRT1308734	hsa-miR-3202	CLIP-seq
MIRT1308735	hsa-miR-3649	CLIP-seq
MIRT1308736	hsa-miR-3651	CLIP-seq
MIRT1308737	hsa-miR-3664-3p	CLIP-seq
MIRT1308738	hsa-miR-3915	CLIP-seq
MIRT1308739	hsa-miR-3928	CLIP-seq
MIRT1308740	hsa-miR-3974	CLIP-seq
MIRT1308741	hsa-miR-4266	CLIP-seq
MIRT1308742	hsa-miR-4286	CLIP-seq
MIRT1308743	hsa-miR-4476	CLIP-seq
MIRT1308744	hsa-miR-4482	CLIP-seq
MIRT1308745	hsa-miR-4489	CLIP-seq
MIRT1308746	hsa-miR-4518	CLIP-seq
MIRT1308747	hsa-miR-4650-5p	CLIP-seq
MIRT1308748	hsa-miR-4667-5p	CLIP-seq
MIRT1308749	hsa-miR-4695-5p	CLIP-seq
MIRT1308750	hsa-miR-4700-5p	CLIP-seq
MIRT1308751	hsa-miR-4710	CLIP-seq
MIRT1308752	hsa-miR-4717-5p	CLIP-seq
MIRT1308753	hsa-miR-4777-5p	CLIP-seq
MIRT1308754	hsa-miR-4779	CLIP-seq
MIRT1308755	hsa-miR-4782-5p	CLIP-seq
MIRT1308756	hsa-miR-498	CLIP-seq
MIRT1308757	hsa-miR-518d-5p	CLIP-seq
MIRT1308758	hsa-miR-519b-5p	CLIP-seq
MIRT1308759	hsa-miR-519c-5p	CLIP-seq
MIRT1308760	hsa-miR-520c-5p	CLIP-seq
MIRT1308761	hsa-miR-526a	CLIP-seq
MIRT1308762	hsa-miR-580	CLIP-seq
MIRT1308763	hsa-miR-634	CLIP-seq
MIRT1308764	hsa-miR-939	CLIP-seq
MIRT1308727	hsa-miR-1266	CLIP-seq
MIRT2091597	hsa-miR-1343	CLIP-seq
MIRT1308731	hsa-miR-3150a-3p	CLIP-seq
MIRT1308733	hsa-miR-3175	CLIP-seq
MIRT2091598	hsa-miR-4419a	CLIP-seq
MIRT2091599	hsa-miR-4510	CLIP-seq
MIRT2091600	hsa-miR-4514	CLIP-seq
MIRT1308746	hsa-miR-4518	CLIP-seq
MIRT2091601	hsa-miR-4645-5p	CLIP-seq
MIRT1308748	hsa-miR-4667-5p	CLIP-seq
MIRT2091602	hsa-miR-4673	CLIP-seq
MIRT2091603	hsa-miR-4692	CLIP-seq
MIRT1308750	hsa-miR-4700-5p	CLIP-seq
MIRT2091604	hsa-miR-4755-3p	CLIP-seq
MIRT1308764	hsa-miR-939	CLIP-seq
MIRT2316201	hsa-miR-1276	CLIP-seq
MIRT2316202	hsa-miR-299-5p	CLIP-seq
MIRT2316203	hsa-miR-3611	CLIP-seq
MIRT2316204	hsa-miR-4487	CLIP-seq
MIRT2316201	hsa-miR-1276	CLIP-seq
MIRT2612273	hsa-miR-1915	CLIP-seq
MIRT2612274	hsa-miR-3065-3p	CLIP-seq
MIRT2612275	hsa-miR-3153	CLIP-seq
MIRT2612276	hsa-miR-4443	CLIP-seq
MIRT2612277	hsa-miR-4447	CLIP-seq
MIRT2612278	hsa-miR-4472	CLIP-seq
MIRT2612279	hsa-miR-4704-3p	CLIP-seq
MIRT2612280	hsa-miR-4726-3p	CLIP-seq
MIRT2612281	hsa-miR-4790-3p	CLIP-seq
MIRT2612282	hsa-miR-541	CLIP-seq
MIRT2612283	hsa-miR-571	CLIP-seq
MIRT2612284	hsa-miR-654-5p	CLIP-seq
MIRT2316201	hsa-miR-1276	CLIP-seq
MIRT2612274	hsa-miR-3065-3p	CLIP-seq
MIRT2612275	hsa-miR-3153	CLIP-seq
MIRT2612276	hsa-miR-4443	CLIP-seq
MIRT2612283	hsa-miR-571	CLIP-seq

Show/Hide all (10)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183, 32814053
GO:0005634	Component	Nucleus	IEA
GO:0006298	Process	Mismatch repair	NAS	21177858
GO:0006401	Process	RNA catabolic process	IBA
GO:0006401	Process	RNA catabolic process	IDA	21177858
GO:0006401	Process	RNA catabolic process	IEA
GO:0032299	Component	Ribonuclease H2 complex	IBA
GO:0032299	Component	Ribonuclease H2 complex	IDA	21177858
GO:0032299	Component	Ribonuclease H2 complex	IEA
GO:0032299	Component	Ribonuclease H2 complex	IPI	21177858

MIM	HGNC	e!Ensembl
610330	24116	ENSG00000172922

Q8TDP1

Protein name

Ribonuclease H2 subunit C (RNase H2 subunit C) (Aicardi-Goutieres syndrome 3 protein) (AGS3) (RNase H1 small subunit) (Ribonuclease HI subunit C)

Protein function

Non catalytic subunit of RNase H2, an endonuclease that specifically degrades the RNA of RNA:DNA hybrids. Participates in DNA replication, possibly by mediating the removal of lagging-strand Okazaki fragment RNA primers during DNA replication. M

PDB

3P56 , 3PUF , 8YJZ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08615	RNase_H2_suC	28 → 157	Ribonuclease H2 non-catalytic subunit (Ylr154p-like)	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:16845400}.

Sequence

MESGDEAAIERHRVHLRSATLRDAVPATLHLLPCEVAVDGPAPVGRFFTPAIRQGPEGLE
VSFRGRCLRGEEVAVPPGLVGYVMVTEEKKVSMGKPDPLRDSGTDDQEEEPLERDFDRFI
GATANFSRFTLWGLETIPGPDAKVRGALTWPSLAAAIHAQVPED

Sequence length

164

Interactions

View interactions

	KEGG
	DNA replication

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the nervous system	Likely pathogenic; Pathogenic	rs78635798	RCV001836687	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Aicardi Goutieres syndrome	Likely pathogenic; Pathogenic	rs78635798	RCV002265545	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Aicardi-Goutieres syndrome 3	Likely pathogenic; Pathogenic	rs77834781, rs78635798, rs1064793942	RCV001729981 RCV000001322 RCV001263427	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (23)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AICARDI-GOUTIERES SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign; Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RNASEH2C-related disorder	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RNASEH2C-RELATED TYPE 1 INTERFERONOPATHY	—	ClinGen, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (68)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acquired porencephaly	Acquired Porencephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Aicardi Goutieres syndrome	Aicardi goutieres syndrome	Pubtator	17846997, 19015152, 23592335, 24183309, 25604658, 25769924, 31559893, 33482855, 33981319, 38041217	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
AICARDI-GOUTIERES SYNDROME	Aicardi Goutieres Syndrome	BEFREE	19015152, 23322642, 24183309, 29150899, 31125342, 31715598		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
	Aicardi Goutieres Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
AICARDI-GOUTIERES SYNDROME	Aicardi Goutieres Syndrome	GENOMICS_ENGLAND_DG	25604658		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AICARDI-GOUTIERES SYNDROME 3	Aicardi Goutieres Syndrome	GENOMICS_ENGLAND_DG	16845400, 20131292, 24357685, 25604658, 27411419		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
AICARDI-GOUTIERES SYNDROME 3	Aicardi Goutieres Syndrome	UNIPROT_DG	16845400, 17846997, 20131292		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
AICARDI-GOUTIERES SYNDROME 3	Aicardi Goutieres Syndrome	CLINVAR_DG	16845400, 17846997, 20131292, 23322642, 29150899		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
AICARDI-GOUTIERES SYNDROME 3	Aicardi Goutieres Syndrome	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Aortic Aneurysm	Aortic Aneurysm	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arhinencephaly	Arrhinencephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis, Gouty	Gouty arthritis	GWASDB_DG	20884846, 23263486		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoinflammatory disorder	Autoinflammatory Disease	GENOMICS_ENGLAND_DG	25604658		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain atrophy	Brain atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	31125342		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	30622304	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chilblains	Chilblain lesions	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	27988520		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	27988520		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cutis marmorata	Cutis marmorata	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic kidney	Cystic Kidney Disease	BEFREE	20488951		★★★★★ ★☆☆☆☆ Found in Text Mining only
Degeneration of the striatum	Degeneration of the striatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Enchondroma	Enchondroma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Episodic Kinesigenic Dyskinesia 1	Episodic Kinesigenic Dyskinesia	BEFREE	20488951		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma of childhood	Glaucoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gout	Gout	GWASDB_DG	20884846, 23263486		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemiplegia/hemiparesis	Hemiplegia/hemiparesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrophthalmos	Glaucoma, congenital	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	27604308		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lipoatrophy	Lipoatrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	28108556	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	31125342		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	31215992		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	19940363		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	27988520		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	27988520		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	30622304		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	24307516		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neonatal Alloimmune Thrombocytopenia	Alloimmune Thrombocytopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19940363, 25812748, 31215992		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Panniculitis	Panniculitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral demyelinating neuropathy	Demyelinating neuropathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Plagiocephaly	Plagiocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Porencephalic cyst	Porencephalic cyst	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	31215992		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Raynaud Phenomenon	Raynaud Phenomenon	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Quadriplegia	Spastic Quadriplegia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	25812748		★★★★★ ★☆☆☆☆ Found in Text Mining only

RNASEH2C (ribonuclease H2 subunit C)