2. Gene
  3. NHP2 - NHP2 ribonucleoprotein Gene

NHP2 - NHP2 ribonucleoprotein Gene

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

中文名称：NHP2 核糖核蛋白

种属: Homo sapiens

同用名: DKCB2; NHP2P; NOLA2

基因 ID: 55651 | 基因类型: protein coding

关于 NHP2

Cytogenetic location: 5q35.3 Genomic coordinates (GRCh38): 5:178,149,463-178,153,885 (from NCBI)

This gene has 7 transcripts (splice variants), 197 orthologues, 3 paralogues and is associated with 4 phenotypes. Ubiquitous expression in esophagus (RPKM 36.2), brain (RPKM 32.1) and 25 other tissues.

功能概要

该基因是 H/ACA snoRNPs (小核仁核糖核蛋白) 基因家族的成员。 snoRNPs 涉及 rRNA 加工和修饰的各个方面，并分为两个家族：C/D 和 H/ACA。 H/ACA snoRNPs 还包括 DKC1、NOLA1 和 NOLA3 蛋白。这四种 H/ACA snoRNP 蛋白定位于核仁的致密纤维状成分和细胞核中的盘绕 (Cajal) 体。如果四种蛋白质中的任何一种被耗尽，18S rRNA 的产生和 rRNA 假尿苷化都会受损。四种 H/ACA snoRNP 蛋白也是端粒酶复合物的组成部分。该基因编码与酿酒酵母 Nhp2p 相关的蛋白质。可变剪接导致多个转录本变体。[RefSeq 提供，2008 年 10 月]

This gene is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. snoRNPs are involved in various aspects of rRNA processing and modification and have been classified into two families: C/D and H/ACA. The H/ACA snoRNPs also include the DKC1, NOLA1 and NOLA3 proteins. These four H/ACA snoRNP proteins localize to the dense fibrillar components of nucleoli and to coiled (Cajal) bodies in the nucleus. Both 18S rRNA production and rRNA pseudouridylation are impaired if any one of the four proteins is depleted. The four H/ACA snoRNP proteins are also components of the Telomerase complex. This gene encodes a protein related to Saccharomyces cerevisiae Nhp2p. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2008]

NHP2 基因产物(3)

mRNA Protein Name
NM_001034833.2 NP_001030005.1 H/ACA ribonucleoprotein complex subunit 2 isoform b
NM_001396110.1 NP_001383039.1 H/ACA ribonucleoprotein complex subunit 2 isoform c
NM_017838.4 NP_060308.1 H/ACA ribonucleoprotein complex subunit 2 isoform 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 binding IPI
IPI: 通过物理相互作用推断
18082603 GOA
enables box H/ACA snoRNA binding IPI
IPI: 通过物理相互作用推断
18082603 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
23685356 GOA
enables telomerase RNA binding IPI
IPI: 通过物理相互作用推断
18082603 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in telomere maintenance via telomerase IDA
IDA: 通过直接分析推断
29695869 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of box H/ACA snoRNP complex IDA
IDA: 通过直接分析推断
18082603 GOA
part of box H/ACA telomerase RNP complex IDA
IDA: 通过直接分析推断
18082603 GOA
part of telomerase holoenzyme complex IDA
IDA: 通过直接分析推断
18082603 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

NHP2 蛋白结构

Ribosomal_L7Ae

Ribosomal_L7Ae: Ribosomal protein L7Ae/L30e/S12e/Gadd45 family (46 - 137)

  • 0
  • 100
  • 153 a.a.
蛋白主名 其他名称

H/ACA ribonucleoprotein complex subunit 2

NHP2 ribonucleoprotein homolog

重组 NHP2 蛋白

目录号 产品名 蛋白编号 纯度
HY-P71160 NHP2 Protein, Human (His) Q9NX24 (M1-L153) ≥95%

关联疾病

疾病名称 别名
Dyskeratosis Congenita, Autosomal Recessive 2

DKCB2

Autosomal Recessive Dyskeratosis Congenita 2

Dyskeratosis Congenita, Autosomal Recessive, 2

Dyskeratosis Congenita, Autosomal Recessive, Type 2
Dyskeratosis Congenita

Dyskeratosis Congenita Autosomal Dominant

Dc

Dkc

Zinsser-Engman-Cole Syndrome

Dyskeratosis Congenita, Autosomal Dominant

Autosomal Dominant Dyskeratosis Congenita

Dkca

Dyskeratosis Congenita Scoggins Type

Zinsser-Cole-Engman Syndrome

X-Linked Dyskeratosis Congenita

Hoyeraal-Hreidarsson Syndrome
Dyskeratosis Congenita, Autosomal Recessive 1

DKCB1

Autosomal Recessive Dyskeratosis Congenita 1

Dyskeratosis Congenita, Autosomal Recessive, 1

Dyskeratosis Congenita, Autosomal Recessive, Type 1
Dyskeratosis Congenita Autosomal Recessive

Autosomal Recessive Dyskeratosis Congenita

Dkcb

Dyskeratosis Congenita, Autosomal Recessive
Pulmonary Fibrosis

Fibrosis Of Lung
Aplastic Anemia

Aplastic Anemia, Susceptibility To

Anemia Aplastic

Idiopathic Aplastic Anemia

Secondary Aplastic Anemia

Idiopathic Bone Marrow Failure

Aplastic Anemia Idiopathic

AA

Anemia, Aplastic

Aplastic Anemia, Idiopathic

Erythroid Aplasia

Aa - [Aplastic Anaemia]

Haematopoietic Aplasia

Aleukia Haemorrhagica

Anaemia Due To Decreased Red Cell Production

Aplasia Bone Marrow

Aplastic Bone Marrow

Hypoplastic Anaemia Nos

Myeloid Bone Marrow Aplasia

Pancytopenia

Panhaematopenia

Hypoproliferative Anaemia

Medullary Hypoplasia

Red Blood Cells Hypoplastic Anaemia

Panmyelophthisis

Panhemocytopenia

Refractive Hypoproliferative Anaemia

Toxic Anaemia

Toxic Aplastic Anaemia

Aplastic Anaemia Due To Toxic Cause

Idiopathic Aplastic Anaemia Nos
Dyskeratosis Congenita, X-Linked

DKCX

X-Linked Dyskeratosis Congenita

Zinsser-Cole-Engman Syndrome

Hoyeraal-Hreidarsson Syndrome

Dyskeratosis Congenita X-Linked

HHS

Cerebellar Hypoplasia With Pancytopenia

Prenatal Growth Retardation With Progressive Pancytopenia And Cerebellar Hypoplasia

Dyskeratosis Congenita
Revesz Syndrome

Exudative Retinopathy With Bone Marrow Failure

DKCA5

Dyskeratosis Congenita, Autosomal Dominant 5

Dyskeratosis Congenita With Bilateral Exudative Retinopathy

Retinopathy-Anemia-Central Nervous System Anomalies Syndrome

Revesz-Debuse Syndrome

Dyskeratosis Congenita, Autosomal Dominant, 5

Revesz Debuse Syndrome
Dyskeratosis Congenita, Autosomal Dominant 1

DKCA1

Dyskeratosis Congenita, Scoggins Type

Autosomal Dominant Dyskeratosis Congenita 1

Dyskeratosis Congenita, Autosomal Dominant, Type 1

Dyskeratosis Congenita, Autosomal Dominant
Granulomatous Myositis
Retinal Telangiectasia
Coats Disease

Exudative Retinopathy

Retinal Telangiectasis

Coats' Disease

Leber Miliary Aneurysm

Coats' Syndrome

Congenital Retinal Telangiectasia
Shwachman-Diamond Syndrome 1

Shwachman-Diamond Syndrome

Shwachman Syndrome

Shwachman-Bodian-Diamond Syndrome

Sds

Pancreatic Insufficiency And Bone Marrow Dysfunction

Shwachman-Bodian Syndrome

SDS1

Lipomatosis Of Pancreas, Congenital

Congenital Lipomatosis Of Pancreas

Shwachman-Diamond Type Metaphyseal Dysplasia

Metaphyseal Chondrodysplasia, Shwachman Type

Shwachman-Diamond-Oski Syndrome
Diamond-Blackfan Anemia

Congenital Pure Red Cell Aplasia

Aase Syndrome

Erythrogenesis Imperfecta

Anemia, Diamond-Blackfan

Congenital Hypoplastic Anemia

Aase-Smith Ii Syndrome

Bds

Blackfan-Diamond Anemia

Congenital Prca

Congenital Hypoplastic Anemia, Blackfan-Diamond Type

Dba

Blackfan - Diamond Syndrome

Chronic Constitutional Pure Red Cell Anaemia

Anemia Diamond Blackfan Type

Anemia Congenital Erythroid Hypoplastic

Aregenerative Anemia Chronic Congenital

Blackfan Diamond Syndrome

Red Cell Aplasia, Pure Hereditary

Aase-Smith Syndrome Ii

Bda

Blackfan Diamond Anemia

Blackfan-Diamond Disease

Blackfan-Diamond Syndrome

Chronic Congenital Agenerative Anemia

Congenital Erythroid Hypoplastic Anemia

Congenital Hypoplastic Anemia Of Blackfan And Diamond

Congenital Pure Red Cell Anemia

Hypoplastic Congenital Anemia

Inherited Erythroblastopenia

Pure Hereditary Red Cell Aplasia

Anemia, Hypoplastic, Congenital

Anemia Hypoplastic Congenital

Fanconi Anemia

Constitutional Aplastic Anemia

Diamond-Blackfan Anemia 1

Aase Smith Syndrome 2

Congenital Red Cell Aplasia

Red Cell Aplasia Of Infants

Pure Red Cell Aplasia Of Infants

Congenital Red Cell Aplastic Anaemia

Congenital Pure Red Cell Anaemia

Congenital Erythroid Hypoplasia

Pearson Marrow-Pancreas Syndrome
Interstitial Lung Disease 2

Idiopathic Pulmonary Fibrosis

Ipf

Fibrocystic Pulmonary Dysplasia

Pulmonary Fibrosis, Idiopathic

Pulmonary Fibrosis, Idiopathic, Susceptibility To

Cryptogenic Fibrosing Alveolitis

ILD2

Idiopathic Pulmonary Fibrosis, Familial

Fibrosing Alveolitis, Cryptogenic

Uip

Fibrosing Alveolitis

Interstitial Pneumonitis, Usual

Familial Idiopathic Pulmonary Fibrosis

Idiopathic Fibrosing Alveolitis, Chronic Form

Usual Interstitial Pneumonia

Fibrosing Alveolitis Cryptogenic

Hamman-Rich Disease

Idiopathic Pulmonary Fibrosis Familial

Interstitial Pneumonitis Usual

Fibrosis Idiopathic Pulmonary

Fibrosis, Pulmonary, Idiopathic

Hamman-Rich Syndrome

Chronic Idiopathic Pulmonary Fibrosis

Acute Interstitial Pneumonia

Interstitial Pulmonary Fibrosis

Ipf - [Idiopathic Pulmonary Fibrosis]

Idiopathic Lung Fibrosis

Fibrosing Lung Disease

Pulmonary Fibrosis Nos

Fibrosing Pneumonitis
Melanoma, Cutaneous Malignant 1

Familial Melanoma

Melanoma, Cutaneous Malignant, Susceptibility To, 1

Melanoma, Malignant

CMM1

Melanoma, Cutaneous Malignant

Cmm

Familial Atypical Mole-Malignant Melanoma Syndrome

Fammm

Melanoma, Familial

Mlm

Dysplastic Nevus Syndrome, Hereditary

Dns

B-K Mole Syndrome

Melanoma, Cutaneous Malignant, 1

Malignant Melanoma, Cutaneous

Melanoma, Cutaneous, Malignant, Susceptibility To, Type 1

Dysplastic Nevus Syndrome

Cutaneous Melanoma

Familial Atypical Mole Melanoma Syndrome

Hereditary Melanoma
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-RS09289 NHP2 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus NHP2 VGNC VGNC:63798
Mus musculus NHP2 MGD MGI:1098547
Canis familiaris NHP2 VGNC VGNC:43803
Macaca mulatta NHP2 VGNC VGNC:84452
Rattus norvegicus NHP2 RGD RGD:1309435
Bos taurus NHP2 VGNC VGNC:32070
Others NHP2 NCBI
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