NHP2
NHP2 Ribonucleoprotein
Gene Information Card
| Symbol | NHP2 |
|---|---|
| Full Name | NHP2 ribonucleoprotein |
| Gene Type | Protein coding |
| Chromosomal Location | 5q35.3 |
| NCBI Gene ID | 55651 ncbi.nlm.nih.gov/gene/55651 |
| Ensembl ID | ENSG00000145912 |
| UniProt ID | Q9NX24 |
| OMIM ID | 606470 |
| HGNC ID | 14377 |
| Aliases | NHP2P, NOLA2, DKC2 |
Description
NHP2 encodes a core component of the H/ACA small nucleolar ribonucleoprotein (snoRNP) complex, which is essential for pseudouridylation of ribosomal RNA and telomere maintenance. The protein binds to dyskerin and other factors to stabilize the complex. Mutations in NHP2 cause autosomal recessive dyskeratosis congenita (DC), a disorder characterized by bone marrow failure, skin abnormalities, and increased cancer risk.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Dyskeratosis congenita, autosomal recessive 2 | Loss-of-function mutations impair H/ACA snoRNP assembly, reducing telomerase activity and telomere shortening | ClinVar, OMIM |
| Pulmonary fibrosis | Telomere dysfunction due to NHP2 mutations may contribute to idiopathic pulmonary fibrosis | ClinVar |
| Cancer predisposition | Telomere instability from NHP2 deficiency increases risk of myelodysplasia and leukemia | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Bone marrow | 12.8 | Medium |
| Lung | 9.5 | Low |
| Skin | 7.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.5 | Moderate expression |
| K562 | 14.2 | Moderate expression |
| HepG2 | 11.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.139C>T (p.Arg47Ter) | Nonsense | Rare | Loss of function; truncated protein |
| c.214G>A (p.Gly72Arg) | Missense | Rare | Impaired snoRNP assembly |
| c.346_347del (p.Leu116fs) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Most NHP2 mutations are loss-of-function, leading to reduced H/ACA snoRNP stability and telomerase deficiency.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described; disease is recessive.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding | • pseudouridine synthase activity |
| • telomerase holoenzyme complex | • H/ACA snoRNP complex |
| • ribosome biogenesis | • telomere maintenance |
Pathways
• Telomere maintenance via telomerase
• rRNA pseudouridylation
• H/ACA snoRNP assembly
Protein Summary
NHP2 is a 153-amino acid protein that forms part of the H/ACA snoRNP complex. It interacts directly with dyskerin (DKC1) and NOP10 to stabilize the complex. The protein is essential for pseudouridylation of ribosomal RNA and for telomerase RNA (TERC) accumulation, thereby supporting telomere elongation. Loss of NHP2 function leads to telomere shortening and multisystem disease.
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