NHP2 NHP2 ribonucleoprotein
Gene ID: 55651, updated on 11-Apr-2024Gene type: protein coding
Also known as: DKCB2; NHP2P; NOLA2
- See all available tests in GTR for this gene
- Go to complete Gene record for NHP2
- Go to Variation Viewer for NHP2 variants
Summary
This gene is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. snoRNPs are involved in various aspects of rRNA processing and modification and have been classified into two families: C/D and H/ACA. The H/ACA snoRNPs also include the DKC1, NOLA1 and NOLA3 proteins. These four H/ACA snoRNP proteins localize to the dense fibrillar components of nucleoli and to coiled (Cajal) bodies in the nucleus. Both 18S rRNA production and rRNA pseudouridylation are impaired if any one of the four proteins is depleted. The four H/ACA snoRNP proteins are also components of the telomerase complex. This gene encodes a protein related to Saccharomyces cerevisiae Nhp2p. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Dyskeratosis congenita, autosomal recessive 1 MedGen: C1857144OMIM: 224230GeneReviews: Dyskeratosis Congenita and Related Telomere Biology Disorders | See labs |
| Dyskeratosis congenita, autosomal recessive 2 MedGen: C3151441OMIM: 613987GeneReviews: Dyskeratosis Congenita and Related Telomere Biology Disorders | See labs |
Genomic context
- Location:
- 5q35.3
- Sequence:
- Chromosome: 5; NC_000005.10 (178149463..178153885, complement)
- Total number of exons:
- 5
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for NHP2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- NHP2 database
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Telomerase Database, Nola2 (NHP2) mutations
- Variation ViewerRelated Variants
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