RNASEH2CGene Detail-Gene Database-Genelibs

RNASEH2C (ribonuclease H2 subunit C)

symbol:: RNASEH2C
locus group:: protein-coding gene
location:: 11q13.1
gene_family:
alias symbol:: AYP1|AGS3
alias name:: Aicardi-Goutieres syndrome 3
entrez id:: 84153
ensembl gene id:: ENSG00000172922
ucsc gene id:: uc001ofn.4
refseq accession:: NM_032193
hgnc_id:: HGNC:24116
approved reserved:: 2006-08-17

11q13.1

RNASEH2C是核糖核酸酶H2复合物的一个亚基，属于RNASEH2基因家族。这个基因家族编码的蛋白质共同参与核糖核酸酶H2复合物的形成，该复合物在DNA复制和修复过程中发挥关键作用，能够特异性识别并降解RNA-DNA杂交链中的RNA部分，维持基因组稳定性。RNASEH2C与RNASEH2A、RNASEH2B共同组成三聚体复合物，其中RNASEH2A负责催化活性，而RNASEH2B和RNASEH2C主要起结构支持作用。RNASEH2C突变会导致复合物功能异常，与一种罕见的自身免疫性疾病——Aicardi-Goutières综合征（AGS）密切相关。这种疾病表现为严重的神经系统症状和自身免疫反应，因为RNASEH2功能缺陷会导致未降解的RNA-DNA杂交体积累，触发异常的干扰素反应和炎症。RNASEH2C表达降低会削弱整个RNASEH2复合物的活性，影响DNA复制和修复效率，可能导致基因组不稳定和细胞凋亡增加。过表达RNASEH2C虽然不会直接增强酶活性（因为催化功能依赖RNASEH2A），但可能通过稳定复合物结构间接影响其功能。RNASEH2基因家族的共性在于它们都参与RNA-DNA杂交体的处理，对维持基因组完整性和防止先天免疫系统过度激活至关重要。除了神经系统疾病，RNASEH2C的异常还与某些癌症发展相关，因为基因组不稳定性可能促进肿瘤发生。研究还发现，RNASEH2C在病毒感染防御中也起作用，因为它能清除病毒复制过程中产生的RNA-DNA中间体。

ChineseEnglish

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]

OMIM entry for RNASEH2C Wikipedia entry for RNASEH2C

Nucleotide sequence of RNASEH2C:[NCBI]

Loading Gene Browser...

Protein Sequence

1MESGDEAAIE RHRVHLRSAT LRDAVPATLH LLPCEVAVDG
41PAPVGRFFTP AIRQGPEGLE VSFRGRCLRG EEVAVPPGLV
81
GYVMVTEEK KVSMGKPDPL RDSGTDDQEE EPLERDFDRF
121IGATANFSRF TLWGLETIPG PDAKVRGALT WPSLAAAIHA
161Q
VPED

结构预测来自 AlphaFold DB（UniProt: Q8TDP1），颜色表示 pLDDT 置信度（深蓝高、黄橙低）。

SNP variants of RNASEH2C: Showing partial SNPs

rs3372 rs11385 rs521678 rs535111 rs554051 rs1151501 rs2236683 rs3177082 rs3178149 rs4645930 rs4645931 rs4645932 rs4645933 rs4645934 rs4645935 rs4645936 rs4645937

Tissue expression of RNASEH2C: [UniProt]

Forward Primer

Forward Tm

Reverse Primer

Reverse Tm

Score

AAGAGAAGAAGGTGTCGATGG

59

CAATGAAGCGGTCGAAGTC

59

TAGGAGGGAGGATGGAGAG

58

TCACCATCACGTATCCCAC

59

AGAGAAGAAGGTGTCGATGG

59

CAATGAAGCGGTCGAAGTC

59

TAGGAGGGAGGATGGAGAG

58

CGAAACGACACTTCGAGTC

59

AGAAGAAGGTGTCGATGGG

59

CAATGAAGCGGTCGAAGTC

59

TAGGAGGGAGGATGGAGAG

58

GAAACGACACTTCGAGTCC

58

No data available

Subcellular localization of RNASEH2C (and its protein):

[UniProt] [GenomeNet]

plasma membrane
cytoplasm
extracellular
golgi
vesicle
cytoskeleton
endoplasmic reticulum
nucleus
endosome
lysosome
mitochondrion

Gene Ontology (GO) terms for RNASEH2C:

GO ID

Protein

Source DB

GO:0004523

Q8TDP1 (UniProtKB)

IBA

GO:0005634

Q8TDP1 (UniProtKB)

IEA

GO:0006401

Q8TDP1 (UniProtKB)

IDA

GO:0032299

Q8TDP1 (UniProtKB)

IDA

GO:0090502

Q8TDP1 (UniProtKB)

IEA

microRNAs potentially regulating RNASEH2C:

String

BioGrid

IntAct

mentha

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Interacting Gene	Interaction	Source/Score

KEGG

Name
3030 DNA replication [PATH:hsa03030]

Disease

Score

NofPmids

NofSnps

Source

Disease	Score	NofPmids	NofSnps	Source
AICARDI-GOUTIERES SYNDROME 3	0.36	3	3	CLINVAR_CTD_human_UNIPROT
AICARDI-GOUTIERES SYNDROME	0.12	0	0	ORPHANET
AICARDI-GOUTIERES SYNDROME 1	0.000814326	3	1	BeFree
Bacteremia	0.000271442	1	0	BeFree
Cystic kidney	0.000271442	1	0	BeFree
Polycystic Kidney Diseases	0.000271442	1	0	BeFree
Mycoses	0.000271442	1	0	BeFree

Identification of 19 Pathogenic Variants in a Clinically Heterogeneous Cohort With Suspected Inborn Errors of Metabolism.

Mansoor S, Abid S, Imran M, Malik MI, Ali Q, Hussain S, Ali HA, Masood Y, Choudhry S, Qamar R, Azam M Clin Genet IF: 2.1 2026-08-00

Non-enzymatic Rnaseh2c orchestrates proliferating macrophage-driven immunosuppression and HCC progression via Cdk9 proliferation axis and CCL2/CCR2-mediated CD8+ Tex infiltration: a novel therapeutic paradigm with "Rnaseh2c-In1" inhibitor.

Wang Z, Xiao R, Liu M, Ceng L, Lin Z, Zheng X, Shi M, Ye H, Wu L, Tang N J Immunother Cancer 2026-04-15

Identification and validation of biomarkers related to mismatch repair for prognosis prediction in glioma.

Feng J, Si Y, Han L, Huang Y, Jiang L Front Immunol IF: 7.0 None

Trio Whole Exome Sequencing in Chinese Childhood-Onset Lupus Reveals Novel Candidate Genes.

Ma J, Qin Y, Hong SM, Ware T, Hou G, Tan J, Xie C, Zhang P, Wu X, Arsov T, Cao L, Andrews TD, Wu P, Shen Q, Ding H, Shen N, Vinuesa CG, He Y Arthritis Rheumatol IF: 9.9 2025-11-00

RNase H2 catalytic core Aicardi-Goutières syndrome-related mutant invokes cGAS-STING innate immune-sensing pathway in mice.

Pokatayev Vladislav, Hasin Naushaba, Chon Hyongi, Cerritelli Susana M, Sakhuja Kiran, Ward Jerrold M, Morris H Douglas, Yan Nan, Crouch Robert J J Exp Med IF: 11.6 2016-07-25

Phenotypic variation in Aicardi-Goutières syndrome explained by cell-specific IFN-stimulated gene response and cytokine release.

Cuadrado Eloy, Michailidou Iliana, van Bodegraven Emma J, Jansen Machiel H, Sluijs Jacqueline A, Geerts Dirk, Couraud Pierre-Olivier, De Filippis Lidia, Vescovi Angelo L, Kuijpers Taco W, Hol Elly M J Immunol IF: 4.0 2015-06-11

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Crow Yanick J, Chase Diana S, Lowenstein Schmidt Johanna, Szynkiewicz Marcin, Forte Gabriella M A, Gornall Hannah L, Oojageer Anthony, Anderson Beverley, Pizzino Amy, Helman Guy, Abdel-Hamid Mohamed S, Abdel-Salam Ghada M, Ackroyd Sam, Aeby Alec, Agosta Guillermo, Albin Catherine, Allon-Shalev Stavit, Arellano Montse, Ariaudo Giada, Aswani Vijay, Babul-Hirji Riyana, Baildam Eileen M, Bahi-Buisson Nadia, Bailey Kathryn M, Barnerias Christine, Barth Magalie, Battini Roberta, Beresford Michael W, Bernard Geneviève, Bianchi Marika, Billette de Villemeur Thierry, Blair Edward M, Bloom Miriam, Burlina Alberto B, Carpanelli Maria Luisa, Carvalho Daniel R, Castro-Gago Manuel, Cavallini Anna, Cereda Cristina, Chandler Kate E, Chitayat David A, Collins Abigail E, Sierra Corcoles Concepcion, Cordeiro Nuno J V, Crichiutti Giovanni, Dabydeen Lyvia, Dale Russell C, D'Arrigo Stefano, De Goede Christian G E L, De Laet Corinne, De Waele Liesbeth M H, Denzler Ines, Desguerre Isabelle, Devriendt Koenraad, Di Rocco Maja, Fahey Michael C, Fazzi Elisa, Ferrie Colin D, Figueiredo António, Gener Blanca, Goizet Cyril, Gowrinathan Nirmala R, Gowrishankar Kalpana, Hanrahan Donncha, Isidor Bertrand, Kara Bülent, Khan Nasaim, King Mary D, Kirk Edwin P, Kumar Ram, Lagae Lieven, Landrieu Pierre, Lauffer Heinz, Laugel Vincent, La Piana Roberta, Lim Ming J, Lin Jean-Pierre S-M, Linnankivi Tarja, Mackay Mark T, Marom Daphna R, Marques Lourenço Charles, McKee Shane A, Moroni Isabella, Morton Jenny E V, Moutard Marie-Laure, Murray Kevin, Nabbout Rima, Nampoothiri Sheela, Nunez-Enamorado Noemi, Oades Patrick J, Olivieri Ivana, Ostergaard John R, Pérez-Dueñas Belén, Prendiville Julie S, Ramesh Venkateswaran, Rasmussen Magnhild, Régal Luc, Ricci Federica, Rio Marlène, Rodriguez Diana, Roubertie Agathe, Salvatici Elisabetta, Segers Karin A, Sinha Gyanranjan P, Soler Doriette, Spiegel Ronen, Stödberg Tommy I, Straussberg Rachel, Swoboda Kathryn J, Suri Mohnish, Tacke Uta, Tan Tiong Y, te Water Naude Johann, Wee Teik Keng, Thomas Maya Mary, Till Marianne, Tonduti Davide, Valente Enza Maria, Van Coster Rudy Noel, van der Knaap Marjo S, Vassallo Grace, Vijzelaar Raymon, Vogt Julie, Wallace Geoffrey B, Wassmer Evangeline, Webb Hannah J, Whitehouse William P, Whitney Robyn N, Zaki Maha S, Zuberi Sameer M, Livingston John H, Rozenberg Flore, Lebon Pierre, Vanderver Adeline, Orcesi Simona, Rice Gillian I Am J Med Genet A IF: 1.7 2015-09-16

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.

Rice Gillian I, Forte Gabriella M A, Szynkiewicz Marcin, Chase Diana S, Aeby Alec, Abdel-Hamid Mohamed S, Ackroyd Sam, Allcock Rebecca, Bailey Kathryn M, Balottin Umberto, Barnerias Christine, Bernard Genevieve, Bodemer Christine, Botella Maria P, Cereda Cristina, Chandler Kate E, Dabydeen Lyvia, Dale Russell C, De Laet Corinne, De Goede Christian G E L, Del Toro Mireia, Effat Laila, Enamorado Noemi Nunez, Fazzi Elisa, Gener Blanca, Haldre Madli, Lin Jean-Pierre S-M, Livingston John H, Lourenco Charles Marques, Marques Wilson, Oades Patrick, Peterson Pärt, Rasmussen Magnhild, Roubertie Agathe, Schmidt Johanna Loewenstein, Shalev Stavit A, Simon Rogelio, Spiegel Ronen, Swoboda Kathryn J, Temtamy Samia A, Vassallo Grace, Vilain Catheline N, Vogt Julie, Wermenbol Vanessa, Whitehouse William P, Soler Doriette, Olivieri Ivana, Orcesi Simona, Aglan Mona S, Zaki Maha S, Abdel-Salam Ghada M H, Vanderver Adeline, Kisand Kai, Rozenberg Flore, Lebon Pierre, Crow Yanick J Lancet Neurol IF: 54.6 2014-01-14

Striking intrafamilial phenotypic variability in Aicardi-Goutières syndrome associated with the recurrent Asian founder mutation in RNASEH2C.

Vogt Julie, Agrawal Shakti, Ibrahim Zala, Southwood Taunton R, Philip Sunny, Macpherson Lesley, Bhole Malini V, Crow Yanick J, Oley Christine Am J Med Genet A IF: 1.7 2013-07-01

The structure of the human RNase H2 complex defines key interaction interfaces relevant to enzyme function and human disease.

Reijns Martin A M, Bubeck Doryen, Gibson Lucien C D, Graham Stephen C, Baillie George S, Jones E Yvonne, Jackson Andrew P J Biol Chem IF: 4.1 2011-06-09

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RNASEH2C (ribonuclease H2 subunit C)

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