Identity
HGNC
LOCATION
5q35.3
LOCUSID
ALIAS
DKCB2,NHP2P,NOLA2
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 55651
MIM: 606470
HGNC: 14377
Ensembl: ENSG00000145912
Variants:
dbSNP: 55651
ClinVar: 55651
TCGA: ENSG00000145912
COSMIC: NHP2
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36933847 | 2023 | A novel mutation (p.Y24N) in NHP2 leads to idiopathic pulmonary fibrosis and lung carcinoma chronic obstructive lung disease by disrupting the expression and nucleocytoplasmic localization of NHP2. | 0 |
| 36933847 | 2023 | A novel mutation (p.Y24N) in NHP2 leads to idiopathic pulmonary fibrosis and lung carcinoma chronic obstructive lung disease by disrupting the expression and nucleocytoplasmic localization of NHP2. | 0 |
| 33595114 | 2021 | NHP2 downregulation counteracts hTR-mediated activation of the DNA damage response at ALT telomeres. | 7 |
| 33595114 | 2021 | NHP2 downregulation counteracts hTR-mediated activation of the DNA damage response at ALT telomeres. | 7 |
| 31985013 | 2020 | NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Høyeraal-Hreidarsson syndrome. | 21 |
| 31985013 | 2020 | NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Høyeraal-Hreidarsson syndrome. | 21 |
| 28623187 | 2017 | Control of box C/D snoRNP assembly by N(6)-methylation of adenine. | 27 |
| 28623187 | 2017 | Control of box C/D snoRNP assembly by N(6)-methylation of adenine. | 27 |
| 25906515 | 2014 | Detection of mutations in TERT, the genes for telomerase reverse transcriptase, in Indian patients of aplastic anaemia: a pilot study. | 1 |
| 25906515 | 2014 | Detection of mutations in TERT, the genes for telomerase reverse transcriptase, in Indian patients of aplastic anaemia: a pilot study. | 1 |
| 20008900 | 2010 | Effects of dyskeratosis congenita mutations in dyskerin, NHP2 and NOP10 on assembly of H/ACA pre-RNPs. | 29 |
| 20008900 | 2010 | Effects of dyskeratosis congenita mutations in dyskerin, NHP2 and NOP10 on assembly of H/ACA pre-RNPs. | 29 |
| 18523010 | 2008 | Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita. | 152 |
| 18523010 | 2008 | Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita. | 152 |
| 15814878 | 2005 | Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia. | 289 |
Citation
Dessen P
NHP2 (NHP2 ribonucleoprotein)
Atlas Genet Cytogenet Oncol Haematol. 2008-10-01
Online version: http://atlasgeneticsoncology.org/gene/50417
