NHP2 (NHP2 ribonucleoprotein)

2008-10-01  

Identity

HGNC
LOCATION
5q35.3
LOCUSID
ALIAS
DKCB2,NHP2P,NOLA2
FUSION GENES

Other Information

Locus ID:

NCBI: 55651
MIM: 606470
HGNC: 14377
Ensembl: ENSG00000145912

Variants:

dbSNP: 55651
ClinVar: 55651
TCGA: ENSG00000145912
COSMIC: NHP2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000145912ENST00000274606Q9NX24
ENSG00000145912ENST00000314397J3QSY4
ENSG00000145912ENST00000502263H0YC83
ENSG00000145912ENST00000511078D6RC52
ENSG00000145912ENST00000514354D6RCB9

Expression (GTEx)

0
50
100
150
200

Pathways

PathwaySourceExternal ID
Ribosome biogenesis in eukaryotesKEGGko03008
Ribosome biogenesis in eukaryotesKEGGhsa03008
H/ACA ribonucleoprotein complexKEGGhsa_M00425
H/ACA ribonucleoprotein complexKEGGM00425
Gene ExpressionREACTOMER-HSA-74160
Cell CycleREACTOMER-HSA-1640170
Chromosome MaintenanceREACTOMER-HSA-73886
Telomere MaintenanceREACTOMER-HSA-157579
Extension of TelomeresREACTOMER-HSA-180786
Telomere Extension By TelomeraseREACTOMER-HSA-171319
rRNA processingREACTOMER-HSA-72312
rRNA modification in the nucleus and cytosolREACTOMER-HSA-6790901
rRNA processing in the nucleus and cytosolREACTOMER-HSA-8868773

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
369338472023A 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
369338472023A 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
335951142021NHP2 downregulation counteracts hTR-mediated activation of the DNA damage response at ALT telomeres.7
335951142021NHP2 downregulation counteracts hTR-mediated activation of the DNA damage response at ALT telomeres.7
319850132020NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Høyeraal-Hreidarsson syndrome.21
319850132020NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Høyeraal-Hreidarsson syndrome.21
286231872017Control of box C/D snoRNP assembly by N(6)-methylation of adenine.27
286231872017Control of box C/D snoRNP assembly by N(6)-methylation of adenine.27
259065152014Detection of mutations in TERT, the genes for telomerase reverse transcriptase, in Indian patients of aplastic anaemia: a pilot study.1
259065152014Detection of mutations in TERT, the genes for telomerase reverse transcriptase, in Indian patients of aplastic anaemia: a pilot study.1
200089002010Effects of dyskeratosis congenita mutations in dyskerin, NHP2 and NOP10 on assembly of H/ACA pre-RNPs.29
200089002010Effects of dyskeratosis congenita mutations in dyskerin, NHP2 and NOP10 on assembly of H/ACA pre-RNPs.29
185230102008Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita.152
185230102008Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita.152
158148782005Mutations 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/meetings/css/lib/bootstrap.min.css