NHP2 - NHP2 ribonucleoprotein Gene

Also Known as DKCB2; NHP2P; NOLA2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 55651

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables RNA binding	IPI IPI: Inferred from physical interaction	18082603	GOA
enables box H/ACA snoRNA binding	IPI IPI: Inferred from physical interaction	18082603	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	23685356	GOA
enables telomerase RNA binding	IPI IPI: Inferred from physical interaction	18082603	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in telomere maintenance via telomerase	IDA IDA: Inferred from direct assay	29695869	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of box H/ACA snoRNP complex	IDA IDA: Inferred from direct assay	18082603	GOA
part of box H/ACA telomerase RNP complex	IDA IDA: Inferred from direct assay	18082603	GOA
part of telomerase holoenzyme complex	IDA IDA: Inferred from direct assay	18082603	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NHP2 Protein Structure

Ribosomal_L7Ae

0
100
153 a.a.

Protein Preferred Names	Protein Names
H/ACA ribonucleoprotein complex subunit 2	NHP2 ribonucleoprotein homolog

NHP2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	NHP2	Q9NX24	NOP10	Homo sapiens	Q9NPE3	Validated Y2H	25416956
Intra	NHP2	Q9NX24	NOP10	Homo sapiens	Q9NPE3	Y2H Array	25416956
Intra	NHP2	Q9NX24	NOP10	Homo sapiens	Q9NPE3	Y2H Prey Pooling	25416956
Intra	NHP2	Q9NX24	NOP10	Homo sapiens	Q9NPE3	Crosslink	30021884
Intra	NHP2	Q9NX24	NOP10	Homo sapiens	Q9NPE3	Y2H Array	31515488

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant NHP2 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P71160	NHP2 Protein, Human (His)	Q9NX24 (M1-L153)	≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09289	NHP2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19623	Nhp2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26118	Nhp2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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