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	10535
Gene name	Ribonuclease H2 subunit A
Gene symbol	RNASEH2A
Synonyms (NCBI Gene)	AGS4JUNBRNASEHIRNHIARNHL
Chromosome	19
Chromosome location	19p13.13
Summary	The protein encoded by this gene is a component of the heterotrimeric type II ribonuclease H enzyme (RNAseH2). RNAseH2 is the major source of ribonuclease H activity in mammalian cells and endonucleolytically cleaves ribonucleotides. It is predicted to re

Show/Hide all (15)

SNP ID	Visualize variation	Clinical significance	Consequence
rs75037667	G>A	Pathogenic	Coding sequence variant, missense variant
rs75718910	G>A	Pathogenic	Coding sequence variant, missense variant
rs76436818	C>A,G,T	Pathogenic	Coding sequence variant, missense variant, synonymous variant
rs76857106	G>A	Pathogenic	Intron variant, coding sequence variant, missense variant
rs77103971	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs77672568	->G	Pathogenic	Coding sequence variant, frameshift variant
rs78705193	->GC	Pathogenic	Coding sequence variant, frameshift variant
rs79767407	C>A	Pathogenic	Coding sequence variant, missense variant
rs79843600	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs397515479	C>T	Pathogenic	Coding sequence variant, intron variant, synonymous variant
rs397515480	G>A	Pathogenic	Coding sequence variant, intron variant, synonymous variant
rs549586181	->A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, frameshift variant
rs753679297	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs758719669	C>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs781284373	G>-	Pathogenic	Frameshift variant, coding sequence variant

Show/Hide all (5)

miRTarBase ID	miRNA	Experiments	Reference
MIRT050223	hsa-miR-25-3p	CLASH	23622248
MIRT046003	hsa-miR-125b-5p	CLASH	23622248
MIRT2091592	hsa-miR-3182	CLIP-seq
MIRT2091593	hsa-miR-3977	CLIP-seq
MIRT2091594	hsa-miR-548n	CLIP-seq

Show/Hide all (28)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003723	Function	RNA binding	IEA
GO:0004518	Function	Nuclease activity	IEA
GO:0004519	Function	Endonuclease activity	IEA
GO:0004523	Function	RNA-DNA hybrid ribonuclease activity	IBA
GO:0004523	Function	RNA-DNA hybrid ribonuclease activity	IDA	21177858
GO:0004523	Function	RNA-DNA hybrid ribonuclease activity	IEA
GO:0004540	Function	RNA nuclease activity	TAS	9789007
GO:0005515	Function	Protein binding	IPI	28514442, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005829	Component	Cytosol	IDA
GO:0006260	Process	DNA replication	TAS	9789007, 21177858
GO:0006298	Process	Mismatch repair	IBA
GO:0006298	Process	Mismatch repair	IDA	23603115
GO:0006298	Process	Mismatch repair	IEA
GO:0006298	Process	Mismatch repair	IEA
GO:0006298	Process	Mismatch repair	NAS	21177858
GO:0006401	Process	RNA catabolic process	IDA	21177858
GO:0006401	Process	RNA catabolic process	TAS	9789007
GO:0016070	Process	RNA metabolic process	IEA
GO:0016787	Function	Hydrolase activity	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
GO:0043137	Process	DNA replication, removal of RNA primer	IBA
GO:0046872	Function	Metal ion binding	IEA

MIM	HGNC	e!Ensembl
606034	18518	ENSG00000104889

O75792

Protein name

Ribonuclease H2 subunit A (RNase H2 subunit A) (EC 3.1.26.4) (Aicardi-Goutieres syndrome 4 protein) (AGS4) (RNase H(35)) (Ribonuclease HI large subunit) (RNase HI large subunit) (Ribonuclease HI subunit A)

Protein function

Catalytic subunit of RNase HII, 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. Medi

PDB

3P56 , 3PUF , 8YJZ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01351	RNase_HII	31 → 241	Ribonuclease HII	Family

Sequence

MDLSELERDNTGRCRLSSPVPAVCRKEPCVLGVDEAGRGPVLGPMVYAICYCPLPRLADL
EALKVADSKTLLESERERLFAKMEDTDFVGWALDVLSPNLISTSMLGRVKYNLNSLSHDT
ATGLIQYALDQGVNVTQVFVDTVGMPETYQARLQQSFPGIEVTVKAKADALYPVVSAASI
CAKVARDQAVKKWQFVEKLQDLDTDYGSGYPNDPKTKAWLKEHVEPVFGFPQFVRFSWRT
AQTILEKEAEDVIWEDSASENQEGLRKITSYFLNEGSQARPRSSHRYFLERGLESATSL

Sequence length

299

Interactions

View interactions

	KEGG
	DNA replication

513

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Aicardi Goutieres syndrome	Likely pathogenic; Pathogenic	rs753679297, rs549586181, rs75718910, rs397515480, rs77103971	RCV005418184 RCV001797792 RCV003155061 RCV001731349 RCV000610608
Aicardi-Goutieres syndrome 4	Pathogenic; Likely pathogenic	rs753695101, rs1388246689, rs2145830181, rs2145830162, rs1403542725, rs1969104362, rs1273822899, rs1289090477, rs76857106, rs762503607, rs2512890193, rs1969053208, rs2512890062, rs867179008, rs2512892954 View all (14 more)	RCV003613176 RCV001376995 RCV003771738 RCV001993698 RCV001988479 RCV002250891 RCV002468773 RCV003050527 RCV002647976 RCV000004904 RCV003043333 RCV003049978 RCV003222590 RCV003504155 RCV003503960 RCV003611810 RCV003613111 RCV003611019 RCV003611253 RCV003611267 RCV003612185 RCV003834252 RCV003843059 RCV003993543 RCV000763423 RCV000779252 RCV003502550 RCV000056302 RCV000056303 RCV000056304 RCV000056305 RCV001375491
RNASEH2A-related disorder	Pathogenic; Likely pathogenic	rs1386586416, rs2512479908, rs753679297, rs549586181, rs77103971	RCV004750938 RCV003904037 RCV004751576 RCV004751700 RCV003894911
RNASEH2A-related type 1 interferonopathy	Likely pathogenic; Pathogenic	rs549586181	RCV005358035

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs7247253	RCV005892844
Cholangiocarcinoma	Benign	rs7247253	RCV005892848
Clear cell carcinoma of kidney	Benign	rs7247253	RCV005892846
Malignant tumor of esophagus	Benign	rs7247253	RCV005892845
Thymoma	Benign	rs7247253	RCV005892847
Uterine corpus endometrial carcinoma	Benign	rs7247253	RCV005892849

Show/Hide Text Mining Associations (25)

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, 35551623, 36065636, 38041217
Carcinogenesis	Stimulate	29651323
Carcinogenesis	Associate	30696738
Carcinoma Hepatocellular	Associate	32213663
Carcinoma Renal Cell	Associate	29843367
Chilblains	Associate	35551623
Colorectal Neoplasms	Stimulate	29651323
Death	Associate	17846997
Epilepsy	Associate	35551623
Intellectual Disability	Associate	35551623
Kidney Neoplasms	Associate	29843367
Language Disorders	Associate	35551623
Liver Failure	Associate	35551623
Lupus Erythematosus Systemic	Associate	30707351, 35551623
Motor Skills Disorders	Associate	35551623
Muscular dystrophy congenital with central nervous system involvement	Associate	35551623
Neoplasms	Associate	29843367, 30696738, 36923313
Neuroblastoma	Associate	32707690
Prostatic Neoplasms	Stimulate	36923313
Prostatic Neoplasms	Associate	37950047
Prostatic Neoplasms Castration Resistant	Associate	36923313
Prostatic Neoplasms Castration Resistant	Stimulate	37950047
Stroke	Associate	36065636
Uterine Cervical Neoplasms	Associate	36281082
Uterine Cervicitis	Associate	30696738

RNASEH2A (ribonuclease H2 subunit A)