NHP2 gene homepage

General information
Gene symbol NHP2
Gene name NHP2 ribonucleoprotein
Chromosome 5
Chromosomal band q35.3
Imprinted Unknown
Genomic reference NG_011765.1
Transcript reference NM_017838.3
Exon/intron information NM_017838.3 exon/intron table
Associated with diseases DKCB-2
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 16
Unique public DNA variants reported 16
Individuals with public variants 2
Hidden variants 1
Download all this gene's data Download all data
Notes Alias NOLA2
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland. As a start data were copied from the Telomerase Database TERC (TR) gene.
Date created May 03, 2013
Date last updated October 26, 2015
Version NHP2:151026

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_017838.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL http://www.LOVD.nl/NHP2
External URL The NHP2 (NOLA2) Telomerase Database
HGNC 14377
Entrez Gene 55651
PubMed articles NHP2
OMIM - Gene 606470
OMIM - Diseases DKCB-2 (dyskeratosis congenita, autosomal recessive, type 2 (DKCB-2))
GeneCards NHP2
GeneTests NHP2

Active transcripts




NCBI ID     

NCBI Protein ID     

00014552 5 NHP2 ribonucleoprotein homolog (yeast), transcript variant 1 NM_017838.3 NP_060308.1 16

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