NHP2 (NHP2 ribonucleoprotein)

2008-10-01  

Identity

HGNC
NHP2
LOCATION
5q35.3
LOCUSID
55651
ALIAS
DKCB2,NHP2P,NOLA2
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

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/img/logo-atlas-4.svg