Gene
nhp2
- ID
- ZDB-GENE-030131-533
- Name
- NHP2 ribonucleoprotein homolog (yeast)
- Symbol
- nhp2 Nomenclature History
- Previous Names
-
- nola2
- wu:fb36b10
- wu:fd61a03
- zgc:73227
- Type
- protein_coding_gene
- Location
- Chr: 21 Mapping Details/Browsers
- Description
- Predicted to enable box H/ACA snoRNA binding activity. Predicted to be involved in rRNA pseudouridine synthesis; snRNA pseudouridine synthesis; and telomere maintenance via telomerase. Predicted to act upstream of or within rRNA processing. Predicted to be located in nucleolus. Predicted to be part of box H/ACA snoRNP complex and telomerase holoenzyme complex. Is expressed in several structures, including digestive system; immature eye; midbrain; retina; and segmental plate. Human ortholog(s) of this gene implicated in autosomal recessive dyskeratosis congenita 2. Orthologous to human NHP2 (NHP2 ribonucleoprotein).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 8 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:73227 (11 images)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal recessive dyskeratosis congenita 2 | Alliance | Dyskeratosis congenita, autosomal recessive 2 | 613987 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR004038 | Ribosomal protein eL8/eL30/eS12/Gadd45 |
| Family | IPR002415 | H/ACA ribonucleoprotein complex, subunit Nhp2-like |
| Family | IPR018492 | Ribosomal protein eL8/Nhp2 family |
| Family | IPR050257 | Large ribosomal subunit protein eL8/uL1-like |
| Homologous_superfamily | IPR029064 | Ribosomal protein eL30-like superfamily |
Domain Details Per Protein
| Protein | Length | H/ACA ribonucleoprotein complex, subunit Nhp2-like | Large ribosomal subunit protein eL8/uL1-like | Ribosomal protein eL30-like superfamily | Ribosomal protein eL8/eL30/eS12/Gadd45 | Ribosomal protein eL8/Nhp2 family |
|---|---|---|---|---|---|---|
|
UniProtKB:Q6PBV6
|
150 |
Interactions and Pathways
No data available
Plasmids
No data available