2. Gene
  3. RNASEH2B - ribonuclease H2 subunit B Gene

RNASEH2B - ribonuclease H2 subunit B Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：核糖核酸酶 H2 亚基 B

种属: Homo sapiens

同用名: AGS2; DLEU8

基因 ID: 79621 | 基因类型: protein coding

关于 RNASEH2B

Cytogenetic location: 13q14.3 Genomic coordinates (GRCh38): 13:50,909,678-50,970,460 (from NCBI)

This gene has 46 transcripts (splice variants), 224 orthologues and is associated with 3 phenotypes. Ubiquitous expression in bone marrow (RPKM 7.7), lymph node (RPKM 6.9) and 25 other tissues.

功能概要

RNase H2 由单个催化亚基 (A) 和两个非催化亚基 (B 和 C) 组成，可特异性降解 RNA:DNA 杂交体的 RNA。该基因编码的蛋白质是 RNase H2 的非催化 B 亚基，被认为在 DNA 复制中发挥作用。已发现该基因编码不同异构体的多个转录变体。该基因的缺陷是 Aicardi-Goutieres 综合征 2 型 (AGS2) 的一个原因。[RefSeq 提供，2008 年 11 月]

RNase H2 is composed of a single catalytic subunit (A) and two non-catalytic subunits (B and C) and specifically degrades the RNA of RNA:DNA hybrids. The protein encoded by this gene is the non-catalytic B subunit of RNase H2, which is thought to play a role in DNA replication. Multiple transcript variants encoding different isoforms have been found for this gene. Defects in this gene are a cause of Aicardi-Goutieres syndrome type 2 (AGS2). [provided by RefSeq, Nov 2008]

RNASEH2B 基因产物(3)

mRNA Protein Name
NM_001142279.2 NP_001135751.1 ribonuclease H2 subunit B isoform 2
NM_001411023.1 NP_001397952.1 ribonuclease H2 subunit B isoform 3
NM_024570.4 NP_078846.2 ribonuclease H2 subunit B isoform 1
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 protein binding IPI
IPI: 通过物理相互作用推断
30889214 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
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

RNASEH2B 蛋白结构

RNase_H2-Ydr279

RNase_H2-Ydr279: Ydr279p protein family (RNase H2 complex component) (15 - 301)

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

ribonuclease H2 subunit B

Aicardi-Goutieres syndrome 2 protein

RNASEH2B 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
RNASEH2B Q5TBB1 ZMYM3 Homo sapiens Q14202
Anti Tag CoIP
30889214
种属内
RNASEH2B Q5TBB1 ZMYM3 Homo sapiens Q14202
Anti Bait CoIP
30889214
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Aicardi-Goutieres Syndrome 2

AGS2

Pseudo-Torch Syndrome

Cree Encephalitis

Aicardi-Goutieres Syndrome, Type 2

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
Cerebral Palsy

Infantile Cerebral Palsy

Mixed Cerebral Palsy

Palsy Cerebral

Palsy, Cerebral

Cerebral Palsy, Mixed
Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder
Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder
Nodular Nonsuppurative Panniculitis

Weber-Christian Disease

Relapsing Febrile Nodular Nonsuppurative Panniculitis

Idiopathic Nodular Panniculitis

Pfeiffer-Weber-Christian Syndrome

Weber-Christian Panniculitis

Panniculitis, Nodular Nonsuppurative

Nodular Non-Suppurative Febrile Panniculitis

Weber - Christian Disease

Panniculitis Nodular Nonsuppurative

Nodular Non-Suppurative Panniculitis

Idiopathic Lobular Panniculitis

Relapsing Febrile Nodular Panniculitis

Wcd
Sting-Associated Vasculopathy With Onset In Infancy

Savi

Sting-Associated Vasculopathy, Infantile Onset

Sting-Associated Vasculopathy, Infantile-Onset
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
Chilblain Lupus 1

Chilblain Lupus

CHBL1

Chilblain Lupus Erythematosus

Chle

Hutchinson Lupus

Chilblain Lupus, Type 1
Basal Ganglia Disease

Basal Ganglia Diseases

Basal Ganglia Disorders

Abnormality Of The Basal Ganglia
Immunodeficiency 15a

IMD15A
Basal Ganglia Calcification

Fahr'S Syndrome

Fahr'S Disease

Fahr Disease
Torch Syndrome
Transient Neonatal Thrombocytopenia
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
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
Cutaneous Lupus Erythematosus

Lupus Erythematosus, Cutaneous

Lupus Erythematosus Cutaneous
Prolidase Deficiency

Hyperimidodipeptiduria

Imidodipeptidase Deficiency

Peptidase Deficiency

PD

Deficiency Of Prolidase

Imidodipeptiduria

Proline Dipeptidase Deficiency
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
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly
Thrombocytopenia

Low Platelet Count

Low Platelets

Decreased Platelets

Platelet Dysfunction Nos
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS12026 RNASEH2B Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus RNASEH2B MGD MGI:1914403
Macaca mulatta RNASEH2B VGNC VGNC:76825
Bos taurus RNASEH2B VGNC VGNC:107254
Felis catus RNASEH2B VGNC VGNC:64658
Canis familiaris RNASEH2B VGNC VGNC:45613
Rattus norvegicus RNASEH2B RGD RGD:1359710
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