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  2. DNASE2 - deoxyribonuclease 2, lysosomal Gene

DNASE2 - deoxyribonuclease 2, lysosomal Gene

中文名称:脱氧核糖核酸酶 2,溶酶体

种属: Homo sapiens

同用名: DNL; DNL2; AIPCS; DNASE2A

基因 ID: 1777 | 基因类型: protein coding

关于 DNASE2

Cytogenetic location: 19p13.13 Genomic coordinates (GRCh38): 19:12,875,209-12,881,449 (from NCBI)

This gene has 7 transcripts (splice variants), 192 orthologues, 1 paralogue and is associated with 1 phenotype. Ubiquitous expression in thyroid (RPKM 23.0), lymph node (RPKM 17.9) and 25 other tissues.

功能概要

该基因编码 DNase 家族的一个成员。这种位于溶酶体中的蛋白质在酸性条件下水解 DNA,并在红细胞生成和细胞凋亡过程中介导 DNA 的分解。已经表征了两个共显性等位基因,DNASE2*L (低活性) 和 DNASE2*H (高活性) ,它们在启动子区域的一个核苷酸处不同。 DNASE2*H 等位基因出现在该记录中。[RefSeq 提供,2008 年 7 月]

This gene encodes a member of the DNase family. The protein, located in the lysosome, hydrolyzes DNA under acidic conditions and mediates the breakdown of DNA during erythropoiesis and Apoptosis. Two codominant alleles have been characterized, DNASE2*L (low activity) and DNASE2*H (high activity), that differ at one nucleotide in the promoter region. The DNASE2*H allele is represented in this record. [provided by RefSeq, Jul 2008]

DNASE2 基因产物(1)

mRNA Protein Name
NM_001375.3 NP_001366.1 deoxyribonuclease-2-alpha precursor
基因本体论
  • 分子功能
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
28514442 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

DNASE2 蛋白结构

DNase_II

DNase_II: Deoxyribonuclease II (18 - 347)

  • 0
  • 100
  • 200
  • 300
  • 360 a.a.
蛋白主名 其他名称

deoxyribonuclease-2-alpha

DNase II alpha

DNASE2 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
DNASE2 O00115 CANX Homo sapiens P27824 28514442
种属内
DNASE2 O00115 CANX Homo sapiens P27824 33961781
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
Autoinflammatory-Pancytopenia Syndrome

AIPCS

Transient Neonatal Thrombocytopenia
Transient Neonatal Neutropenia
Neonatal Anemia

Anemia Neonatal

Anemia, Neonatal

Anaemia Neonatal

Neonatal Anaemia

Chilblain Lupus 1

Chilblain Lupus

CHBL1

Chilblain Lupus Erythematosus

Chle

Hutchinson Lupus

Chilblain Lupus, Type 1

Sting-Associated Vasculopathy With Onset In Infancy

Savi

Sting-Associated Vasculopathy, Infantile Onset

Sting-Associated Vasculopathy, Infantile-Onset

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

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

Torch Syndrome
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
Mus musculus DNASE2 MGD MGI:1329019
Macaca mulatta DNASE2 VGNC VGNC:71950
Rattus norvegicus DNASE2 RGD RGD:621457
Felis catus DNASE2 VGNC VGNC:61555
Canis familiaris DNASE2 VGNC VGNC:40026
Bos taurus DNASE2 VGNC VGNC:28136