NHP2 Chromosome 5
NHP2 ribonucleoprotein
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What This Gene Does
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]
Gene Info
Gene Group
"H/ACA ribonucleoprotein complex|Telomerase holoenzyme subunits"
Locus Type
gene with protein product
Location
5q35.3
Ensembl
ENSG00000145912
Associated Conditions (4)
Dyskeratosis congenita
autosomal recessive 2
NHP2-related disorder
autosomal recessive 1
Key Variants
RS148179279
Conflicting classifications of pathogenicity
Dyskeratosis congenita, Dyskeratosis congenita
Health Risk
RS200150979
Conflicting classifications of pathogenicity
Dyskeratosis congenita, Dyskeratosis congenita
Health Risk
RS376220034
Conflicting classifications of pathogenicity
Dyskeratosis congenita, autosomal recessive 2, NHP2-related disorder
Health Risk
RS756638436
Conflicting classifications of pathogenicity
Dyskeratosis congenita, Dyskeratosis congenita
Health Risk
RS121908089
Pathogenic
Dyskeratosis congenita, autosomal recessive 2, autosomal recessive 1
Health Risk
RS121908090
Pathogenic
Dyskeratosis congenita, autosomal recessive 2, autosomal recessive 1
Health Risk
RS121908091
Pathogenic
Dyskeratosis congenita, autosomal recessive 2, autosomal recessive 1
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS148179279 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, Dyskeratosis congenita |
| RS200150979 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, Dyskeratosis congenita |
| RS376220034 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, autosomal recessive 2, NHP2-related disorder |
| RS756638436 | Health Risk | Conflicting classifications of pathogenicity | Dyskeratosis congenita, Dyskeratosis congenita |
| RS121908089 | Health Risk | Pathogenic | Dyskeratosis congenita, autosomal recessive 2, autosomal recessive 1 |
| RS121908090 | Health Risk | Pathogenic | Dyskeratosis congenita, autosomal recessive 2, autosomal recessive 1 |
| RS121908091 | Health Risk | Pathogenic | Dyskeratosis congenita, autosomal recessive 2, autosomal recessive 1 |