NHP2
entrez
55651
canonical
uniprot
Q9NX24
canonical
ensembl
ENSG00000145912
resolver
ensp
ENSP00000274606
resolver
ensp
ENSP00000366276
resolver
ensp
ENSP00000423803
resolver
enst
ENST00000274606
resolver
enst
ENST00000314397
resolver
genesymbol
NHP2
resolver
genesymbol_syn
NOLA2
resolver
hgnc
HGNC:14377
resolver
uniprot
A6NKY8
resolver
uniprot
J3QSY4
resolver
uniprot
Q9P095
resolver
uniprot_entry
J3QSY4_HUMAN
resolver
uniprot_entry
NHP2_HUMAN
resolver
uniprot_sec
A6NKY8
resolver
uniprot_sec
Q9P095
resolver
amino_acid_sequence
MTKIKADPDGPEAQAEACSGERTYQELLVNQNPIAQPLASRRLTRKLYKCIKKAVKQKQIRRGVKEVQKFVNKGEKGIMVLAGDTLPIEVYCHLPVMCEDRNLPYVYIPSKTDLGAAAGSKRPTCVIMVKPHEEYQEAYDECLEEVQSLPLPL
uniprot
proteins
disease_involvement
DISEASE: Dyskeratosis congenita, autosomal recessive, 2 (DKCB2) [MIM:613987]: A rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. {ECO:0000269|PubMed:18523010}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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, the RNA component of the telomerase reverse transcriptase (TERT) holoenzyme. {ECO:0000269|PubMed:15044956}.
uniprot
proteins
mass_dalton
17201
uniprot
proteins
protein_family
Eukaryotic ribosomal protein eL8 family
uniprot
proteins
pubmed
11042152
uniprot
proteins
pubmed
11074001
uniprot
proteins
pubmed
11790298
uniprot
proteins
pubmed
12020816
uniprot
proteins
pubmed
12429849
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15044956
uniprot
proteins
pubmed
15372022
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18523010
uniprot
proteins
pubmed
19179534
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20351177
uniprot
proteins
pubmed
20797632
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25114211
uniprot
proteins
pubmed
25218447
uniprot
proteins
pubmed
25755297
uniprot
proteins
pubmed
25772364
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
29695869
uniprot
proteins
sequence_length
153
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus, nucleolus. Nucleus, Cajal body. Note=Also localized to Cajal bodies (coiled bodies).
uniprot
proteins