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  2. RNASEH2A - ribonuclease H2 subunit A Gene

RNASEH2A - ribonuclease H2 subunit A Gene

中文名称:核糖核酸酶 H2 亚基 A

种属: Homo sapiens

同用名: AGS4; JUNB; RNHL; RNHIA; THSD8; RNASEHI

基因 ID: 10535 | 基因类型: protein coding

关于 RNASEH2A

Cytogenetic location: 19p13.13 Genomic coordinates (GRCh38): 19:12,806,584-12,813,640 (from NCBI)

This gene has 6 transcripts (splice variants), 186 orthologues and is associated with 3 phenotypes. Ubiquitous expression in bone marrow (RPKM 7.3), testis (RPKM 7.2) and 25 other tissues.

功能概要

该基因编码的蛋白质是异源三聚体 II 型核糖核酸酶 H (RNAseH2) 的一个组成部分。 RNAseH2 是哺乳动物细胞中核糖核酸酶 H 活性的主要来源,并以内切核酸酶的方式切割核糖核苷酸。预计在滞后链 DNA 合成过程中去除冈崎片段 RNA 引物,并从 DNA-DNA 双链体中切除单个核糖核苷酸。该基因的突变导致 Aicardi-Goutieres 综合征 (AGS) ,这是一种常染色体隐性遗传性神经系统疾病,其特征是进行性小头畸形和精神运动迟缓、颅内钙化、脑脊液中干扰素-α 和白细胞水平升高。[RefSeq 提供, 2009 年 8 月]

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 remove Okazaki fragment RNA primers during lagging strand DNA synthesis and to excise single ribonucleotides from DNA-DNA duplexes. Mutations in this gene cause Aicardi-Goutieres Syndrome (AGS), a an autosomal recessive neurological disorder characterized by progressive microcephaly and psychomotor retardation, intracranial calcifications, elevated levels of interferon-alpha and white blood cells in the cerebrospinal fluid.[provided by RefSeq, Aug 2009]

RNASEH2A 基因产物(1)

mRNA Protein Name
NM_006397.3 NP_006388.2 ribonuclease H2 subunit A
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables RNA-DNA hybrid ribonuclease activity IDA
IDA: 通过直接分析推断
21177858 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
28514442 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in RNA catabolic process IDA
IDA: 通过直接分析推断
21177858 GOA
acts upstream of or within mismatch repair IDA
IDA: 通过直接分析推断
23603115 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of ribonuclease H2 complex IDA
IDA: 通过直接分析推断
21177858 GOA
part of ribonuclease H2 complex IPI
IPI: 通过物理相互作用推断
21177858 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

RNASEH2A 蛋白结构

RNase_HII

RNase_HII: Ribonuclease HII (31 - 240)

  • 0
  • 100
  • 200
  • 299 a.a.
蛋白主名 其他名称

ribonuclease H2 subunit A

RNase H(35)

关联疾病

疾病名称 别名
Aicardi-Goutieres Syndrome 4

AGS4

Pseudo-Torch Syndrome

Cree Encephalitis

Aicardi-Goutieres Syndrome, Type 4

Aicardi-Goutieres Syndrome 1

Aicardi-Goutieres Syndrome

Aicardi Goutieres Syndrome

Cree Encephalitis

Aicardi-Goutières Syndrome

Encephalopathy With Basal Ganglia Calcification

Ags

Encephalopathy With Intracranial Calcification And Chronic Lymphocytosis Of Cerebrospinal Fluid

Pseudotoxoplasmosis Syndrome

Encephalopathy, Familial Infantile, With Calcification Of Basal Ganglia And Chronic Cerebrospinal Fluid Lymphocytosis

Familial Infantile Encephalopathy With Intracranial Calcification And Chronic Cerebrospinal Fluid Lymphocytosis

Aicardi-Goutieres Syndrome 1

Chilblain Lupus 1

Chilblain Lupus

CHBL1

Chilblain Lupus Erythematosus

Chle

Hutchinson Lupus

Chilblain Lupus, Type 1

Torch Syndrome
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations

Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations

Crv

Rvcl

Rvcl-S

Vasculopathy, Retinal, With Cerebral Leukodystrophy

Retinopathy, Vascular, With Cerebral And Renal Involvement And Raynaud And Migraine Phenomena

Retinal Vasculopathy With Cerebral Leukodystrophy

Retinal Vasculopathy And Cerebral Leukoencephalopathy

Hereditary Vascular Retinopathy

Hvr

RVCLS

Cerebroretinal Vasculopathy, Hereditary

Cerebroretinal Vasculopathy

Herns

Vasculopathy, Retinal, With Cerebral Leukodystrophy, Formerly

Hereditary Cerebroretinal Vasculopathy

Hereditary Endotheliopathy, Retinopathy, Nephropathy, Stroke

Hereditary Systemic Angiopathy

Hsa

Retinal Vasculopathy With Cerebral Leukodystrophy With Systemic Manifestations

Adrvcl

Autosomal Dominant Retinal Vasculopathy With Cerebral Leukodystrophy

Hereditary Endotheliopathy With Retinopathy-Nephropathy-Stroke

Vascular Retinopathy With Cerebral And Renal Involvement And Raynaud And Migraine Phenomena

Sting-Associated Vasculopathy With Onset In Infancy

Savi

Sting-Associated Vasculopathy, Infantile Onset

Sting-Associated Vasculopathy, Infantile-Onset

Basal Ganglia Disease

Basal Ganglia Diseases

Basal Ganglia Disorders

Abnormality Of The Basal Ganglia

Basal Ganglia Calcification

Fahr'S Syndrome

Fahr'S Disease

Fahr Disease

Cutaneous Lupus Erythematosus

Lupus Erythematosus, Cutaneous

Lupus Erythematosus Cutaneous

Dyschromatosis Symmetrica Hereditaria

Dyschromatosis Symmetrica Hereditaria 1

Reticulate Acropigmentation Of Dohi

DSH

Dsh1

Symmetric Dyschromatosis Of The Extremities

Rad

Familial Reticulate Acropigmentation Of Dohi

Acropigmentation Of Dohi

Symmetrical Dyschromatosis Of Extremities

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Immunodeficiency 38 With Basal Ganglia Calcification

Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Isg15 Deficiency

IMD38

Immunodeficiency 38, Mycobacteriosis, Autosomal Recessive

Immunodeficiency 38

Isg15 Deficiency, Autosomal Recessive

Immunodeficiency 38, With Basal Ganglia Calcification

Autosomal Recessive Isg15 Deficiency

Msmd Due To Complete Isg15 Deficiency

Immunodeficiency, Type 38

Visual Cortex Disease

Visual Cortex Dysfunction

Visual Cortex Disorder

Visual Cortical Disorder

Disease Of Visual Cortex

Visual Pathway Disease

Disorder Of Visual Pathways

Dystonia

Dystonic Disease

Dystonic Disorder

Dystonia Disorders

Neuroleptic Dyskinesia

Thrombocytopenia

Low Platelet Count

Low Platelets

Decreased Platelets

Platelet Dysfunction Nos

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Canis familiaris RNASEH2A VGNC VGNC:45612
Mus musculus RNASEH2A MGD MGI:1916974
Rattus norvegicus RNASEH2A RGD RGD:1307248
Bos taurus RNASEH2A VGNC VGNC:34000
Macaca mulatta RNASEH2A VGNC VGNC:76766
Felis catus RNASEH2A VGNC VGNC:64657