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

402

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the nervous system	Likely pathogenic; Pathogenic	rs78635798	RCV001836687
Aicardi Goutieres syndrome	Likely pathogenic; Pathogenic	rs78635798	RCV002265545
Aicardi-Goutieres syndrome 3	Likely pathogenic; Pathogenic	rs77834781, rs78635798, rs1064793942	RCV001729981 RCV000001322 RCV001263427

Show/Hide Unknown Diseases (15)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign; Likely benign	rs61736590	RCV005900689
Adrenocortical carcinoma, hereditary	Benign; Likely benign	rs61736590	RCV005900692
Cervical cancer	Benign; Likely benign	rs61736590	RCV005900693
Colon adenocarcinoma	Benign; Likely benign	rs61736590	RCV005900688
Familial cancer of breast	Uncertain significance; Benign; Likely benign	rs753880827, rs61736590	RCV005924203 RCV005900687
Gastric cancer	Benign; Likely benign	rs61736590	RCV005900695
Hepatocellular carcinoma	Benign; Likely benign	rs61736590	RCV005900690
Melanoma	Benign; Likely benign	rs61736590	RCV005900699
Nonpapillary renal cell carcinoma	Benign; Likely benign	rs61736590	RCV005900691
Ovarian serous cystadenocarcinoma	Likely benign; Benign; Uncertain significance	rs535966679, rs61736590, rs376966597	RCV005921263 RCV005900696 RCV005913697
RNASEH2C-related disorder	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	rs1309770134, rs1271586408, rs2495309911, rs61736590, rs772757667, rs751767695, rs535966679, rs76091978	RCV003399924 RCV003939165 RCV003971978 RCV003970098 RCV003411732 RCV003970581 RCV003962934 RCV004753159
Sarcoma	Benign; Likely benign	rs61736590	RCV005900694
Thymoma	Benign; Likely benign	rs61736590	RCV005900697
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	rs61736590	RCV005900698
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs61736590	RCV005900700

Show/Hide Text Mining Associations (6)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Aicardi Goutieres syndrome	Associate	17846997, 19015152, 23592335, 24183309, 25604658, 25769924, 31559893, 33482855, 33981319, 38041217
Breast Neoplasms	Associate	30622304
Death	Associate	17846997
Inflammation	Associate	30622304
Lupus Erythematosus Systemic	Associate	28108556
Plaque Atherosclerotic	Associate	30622304

RNASEH2C (ribonuclease H2 subunit C)