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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	10535
Gene name Gene Name - the full gene name approved by the HGNC.	Ribonuclease H2 subunit A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	RNASEH2A
Synonyms (NCBI Gene) Gene synonyms aliases	AGS4, JUNB, RNASEHI, RNHIA, RNHL
Chromosome Chromosome number	19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	19p13.13
Summary Summary of gene provided in NCBI Entrez Gene.	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

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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

Protein

UniProt ID

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

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Aicardi Goutieres Syndrome	aicardi-goutieres syndrome 4	rs397515480, rs77103971, rs753679297, rs549586181, rs76857106, rs781284373, rs397515479, rs75718910	N/A
aicardi goutieres syndrome	Aicardi Goutieres syndrome	rs397515480, rs77103971, rs549586181, rs75718910	N/A

Show/Hide Text Mining Associations (25)

Disease Name	Relationship Type	References
Associations from Text Mining Disease 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)