NHP2 |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- NHP2 (HGNC:14377) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- NHP2 ribonucleoprotein
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- NOLA2
- Alias symbols
- FLJ20479
- %HI
- 32.86(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.05(Read more about gnomAD pLI score)
- LOEUF
- 1.08(Read more about gnomAD LOEUF score)
- Cytoband
- 5q35.3
- Genomic Coordinates
-
GRCh37/hg19: chr5:177576464-177580886 NCBI Ensembl UCSC GRCh38/hg38: chr5:178149463-178153885 NCBI Ensembl UCSC - MANE Select Transcript
- NM_017838.4 ENST00000274606.8 (Read more about MANE Select)
- Function
- Required for ribosome biogenesis and telomere maintenance. Part of the H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA. This involves the isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal N1. Each rRNA can contain up to 100 pseudouridine ('psi') residues, which may serve to stabilize the conformation of rRNAs. May also be required for correct processing or intranuclear trafficking of TERC,... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-27493
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
03/04/2015
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- dyskeratosis congenita, autosomal recessive 2 Monarch
HI Evidence Comments:
Variants in NHP2 have been reported in individuals with dyskeratosis congenita (reviewed in OMIM 613987).
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000005.9)
(NC_000005.10)