NHP2 wt Allele

Preferred Label : NHP2 wt Allele;

NCIt synonyms : DKCB2; NHP2, S. cerevisiae, Homolog of Gene; Nucleolar Protein Family A, Member 2 (H/ACA Small Nucleolar RNPs) Gene; HSPC286; FLJ20479; NHP2P; Nucleolar Protein Family A, Member 2 Gene; NOLA2; NHP2 Ribonucleoprotein Homolog (Yeast) Gene; NHP2 Ribonucleoprotein wt Allele;

NCIt definition : Human NHP2 wild-type allele is located in the vicinity of 5q35.3 and is approximately 5 kb in length. This allele, which encodes H/ACA ribonucleoprotein complex subunit 2 protein, plays a role in both ribosome biogenesis and telomere maintenance. Mutation of the gene is associated with autosomal recessive dyskeratosis congenita type 2.;

NCI Metathesaurus CUI : CL553303;

GenBank Accession Number : AF161404;

Details

Origin ID

C152095;

UMLS CUI

C4724054;

Automatic exact mappings (from CISMeF team)
- Dyskeratosis congenita, autosomal recessive 2 [OMIM Phenotype]
- NHP2 ribonucleoprotein [ORDO Gene]
- Nhp2 ribonucleoprotein [OMIM gene]
- autosomal recessive dyskeratosis congenita 2 [DO Concept]
OMIM relation
- Nhp2 ribonucleoprotein [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 5q35.3 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Hematologic Neoplasm with Germline Predisposition Associated with Telomerase Biology Disorder [NCIt concept]
gene_plays_role_in_process
- RNA Binding [NCIt concept]
- RNA Processing [NCIt concept]
- Telomere Maintenance [NCIt concept]

Keyword's position in hierarchy(ies) :

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