Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55651
Gene name Gene Name - the full gene name approved by the HGNC.
NHP2 ribonucleoprotein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NHP2
Synonyms (NCBI Gene) Gene synonyms aliases
DKCB2, NHP2P, NOLA2
Disease Acronyms (UniProt) Disease acronyms from UniProt database
DKCB2
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q35.3
Summary Summary of gene provided in NCBI Entrez Gene.
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 incl
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT050265 hsa-miR-25-3p CLASH 23622248
MIRT042952 hsa-miR-324-3p CLASH 23622248
MIRT038252 hsa-miR-330-5p CLASH 23622248
MIRT440114 hsa-miR-218-5p HITS-CLIP 23212916
MIRT440114 hsa-miR-218-5p HITS-CLIP 23212916
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000469 Process Cleavage involved in rRNA processing IBA 21873635
GO:0000470 Process Maturation of LSU-rRNA IBA 21873635
GO:0000781 Component Chromosome, telomeric region HDA 19135898
GO:0003723 Function RNA binding HDA 22658674
GO:0003723 Function RNA binding IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606470 14377 ENSG00000145912
Protein
UniProt ID Q9NX24
Protein name H/ACA ribonucleoprotein complex subunit 2 (Nucleolar protein family A member 2) (snoRNP protein NHP2)
Protein 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
PDB 7BGB , 7TRC , 7V9A , 8OUE , 8OUF
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01248 Ribosomal_L7Ae 45 139 Ribosomal protein L7Ae/L30e/S12e/Gadd45 family Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in brain, colon, heart, kidney, ovary, pancreas, placenta, prostate, skeletal muscle, small intestine, spleen, testis and thymus. Also expressed at lower levels in the liver. {ECO:0000269|PubMed:12020816}.
Sequence
Sequence length 153
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Ribosome biogenesis in eukaryotes   Telomere Extension By Telomerase
rRNA modification in the nucleus and cytosol
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Anemia Anemia rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966
View all (89 more)
Aplastic anemia Aplastic Anemia rs113993991, rs113993993, rs864309668, rs121908974, rs199422265, rs199422270, rs104894176, rs104894180, rs28933973, rs104894182, rs28933376, rs771552960, rs786205093, rs193302876, rs113993992
View all (104 more)
Cataract Cataract rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322
View all (150 more)
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Unknown
Disease term Disease name Evidence References Source
Cirrhosis Cirrhosis ClinVar
Dyskeratosis Congenita dyskeratosis congenita GenCC
Associations from Text Mining
Disease Name Relationship Type References
Acute Kidney Injury Associate 30074154
Aging Premature Associate 18523010, 37440454
Bone Marrow Failure Disorders Associate 37440454
Colorectal Neoplasms Associate 34129943
Depression Postpartum Associate 34856750
Dyskeratosis Congenita Associate 18523010, 19036115, 30728146
Dyskeratosis Congenita Autosomal Recessive Associate 18523010
Endometrial Neoplasms Associate 35054812
Leukemia Lymphocytic Chronic B Cell Associate 28666010
Myelodysplastic Syndromes Associate 37440454