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NHP2 (NHP2 ribonucleoprotein)

Identity

Alias (NCBI)DKCB2
NHP2P
NOLA2
HGNC (Hugo) NHP2
HGNC Alias symbFLJ20479
HGNC Previous nameNOLA2
HGNC Previous namenucleolar protein family A, member 2 (H/ACA small nucleolar RNPs)
 NHP2 ribonucleoprotein homolog (yeast)
LocusID (NCBI) 55651
Atlas_Id 50417
Location 5q35.3  [Link to chromosome band 5q35]
Location_base_pair Starts at 178149465 and ends at 178153885 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
NHP2 (5q35.3) / UBXN6 (19p13.3)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 1 ]
  Dyskeratosis congenita (DKC)


External links

 

Nomenclature
HGNC (Hugo)NHP2   14377
LRG (Locus Reference Genomic)LRG_346
Cards
Entrez_Gene (NCBI)NHP2    NHP2 ribonucleoprotein
AliasesDKCB2; NHP2P; NOLA2
GeneCards (Weizmann)NHP2
Ensembl hg19 (Hinxton)ENSG00000145912 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000145912 [Gene_View]  ENSG00000145912 [Sequence]  chr5:178149465-178153885 [Contig_View]  NHP2 [Vega]
ICGC DataPortalENSG00000145912
TCGA cBioPortalNHP2
AceView (NCBI)NHP2
Genatlas (Paris)NHP2
SOURCE (Princeton)NHP2
Genetics Home Reference (NIH)NHP2
Genomic and cartography
GoldenPath hg38 (UCSC)NHP2  -     chr5:178149465-178153885 -  5q35.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NHP2  -     5q35.3   [Description]    (hg19-Feb_2009)
GoldenPathNHP2 - 5q35.3 [CytoView hg19]  NHP2 - 5q35.3 [CytoView hg38]
ImmunoBaseENSG00000145912
Genome Data Viewer NCBINHP2 [Mapview hg19]  
OMIM224230   606470   613987   
Gene and transcription
Genbank (Entrez)AF161404 AF401217 AF401219 AJ293309 AK000486
RefSeq transcript (Entrez)NM_001034833 NM_017838
Consensus coding sequences : CCDS (NCBI)NHP2
Gene ExpressionNHP2 [ NCBI-GEO ]   NHP2 [ EBI - ARRAY_EXPRESS ]   NHP2 [ SEEK ]   NHP2 [ MEM ]
Gene Expression Viewer (FireBrowse)NHP2 [ Firebrowse - Broad ]
GenevisibleExpression of NHP2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55651
GTEX Portal (Tissue expression)NHP2
Human Protein AtlasENSG00000145912-NHP2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NX24   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NX24  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NX24
PhosPhoSitePlusQ9NX24
Domains : Interpro (EBI)H/ACA_rnp_Nhp2_euk    L30e-like    Ribosomal_L7Ae/L30e/S12e/Gad45    Ribosomal_L7Ae/L8/Nhp2   
Domain families : Pfam (Sanger)Ribosomal_L7Ae (PF01248)   
Domain families : Pfam (NCBI)pfam01248   
Conserved Domain (NCBI)NHP2
SuperfamilyQ9NX24
AlphaFold pdb e-kbQ9NX24   
Human Protein Atlas [tissue]ENSG00000145912-NHP2 [tissue]
HPRD07570
Protein Interaction databases
DIP (DOE-UCLA)Q9NX24
IntAct (EBI)Q9NX24
BioGRIDNHP2
STRING (EMBL)NHP2
ZODIACNHP2
Ontologies - Pathways
QuickGOQ9NX24
Ontology : AmiGOcleavage involved in rRNA processing  maturation of LSU-rRNA  chromosome, telomeric region  RNA binding  RNA binding  RNA binding  protein binding  nucleoplasm  telomerase holoenzyme complex  telomerase holoenzyme complex  sno(s)RNA-containing ribonucleoprotein complex  telomere maintenance via telomerase  telomere maintenance via telomerase  rRNA pseudouridine synthesis  rRNA pseudouridine synthesis  rRNA pseudouridine synthesis  snRNA pseudouridine synthesis  box H/ACA snoRNP complex  box H/ACA snoRNP complex  box H/ACA snoRNP complex  box H/ACA snoRNA binding  box H/ACA snoRNA binding  telomerase RNA binding  box H/ACA scaRNP complex  box H/ACA telomerase RNP complex  box H/ACA telomerase RNP complex  positive regulation of telomerase RNA localization to Cajal body  
Ontology : EGO-EBIcleavage involved in rRNA processing  maturation of LSU-rRNA  chromosome, telomeric region  RNA binding  RNA binding  RNA binding  protein binding  nucleoplasm  telomerase holoenzyme complex  telomerase holoenzyme complex  sno(s)RNA-containing ribonucleoprotein complex  telomere maintenance via telomerase  telomere maintenance via telomerase  rRNA pseudouridine synthesis  rRNA pseudouridine synthesis  rRNA pseudouridine synthesis  snRNA pseudouridine synthesis  box H/ACA snoRNP complex  box H/ACA snoRNP complex  box H/ACA snoRNP complex  box H/ACA snoRNA binding  box H/ACA snoRNA binding  telomerase RNA binding  box H/ACA scaRNP complex  box H/ACA telomerase RNP complex  box H/ACA telomerase RNP complex  positive regulation of telomerase RNA localization to Cajal body  
Pathways : KEGGRibosome biogenesis in eukaryotes   
NDEx NetworkNHP2
Atlas of Cancer Signalling NetworkNHP2
Wikipedia pathwaysNHP2
Orthology - Evolution
OrthoDB55651
GeneTree (enSembl)ENSG00000145912
Phylogenetic Trees/Animal Genes : TreeFamNHP2
Homologs : HomoloGeneNHP2
Homology/Alignments : Family Browser (UCSC)NHP2
Gene fusions - Rearrangements
Fusion : QuiverNHP2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNHP2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NHP2
dbVarNHP2
ClinVarNHP2
MonarchNHP2
1000_GenomesNHP2 
Exome Variant ServerNHP2
GNOMAD BrowserENSG00000145912
Varsome BrowserNHP2
ACMGNHP2 variants
VarityQ9NX24
Genomic Variants (DGV)NHP2 [DGVbeta]
DECIPHERNHP2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNHP2 
Mutations
ICGC Data PortalNHP2 
TCGA Data PortalNHP2 
Broad Tumor PortalNHP2
OASIS PortalNHP2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNHP2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DNHP2
Mutations and Diseases : HGMDNHP2
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaNHP2
DgiDB (Drug Gene Interaction Database)NHP2
DoCM (Curated mutations)NHP2
CIViC (Clinical Interpretations of Variants in Cancer)NHP2
Cancer3DNHP2
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM224230    606470    613987   
Orphanet477   
DisGeNETNHP2
MedgenNHP2
Genetic Testing Registry NHP2
NextProtQ9NX24 [Medical]
GENETestsNHP2
Target ValidationNHP2
Huge Navigator NHP2 [HugePedia]
ClinGenNHP2 (curated)
Clinical trials, drugs, therapy
MyCancerGenomeNHP2
Protein Interactions : CTDNHP2
Pharm GKB GenePA164723898
PharosQ9NX24
Clinical trialNHP2
Miscellaneous
canSAR (ICR)NHP2
HarmonizomeNHP2
DataMed IndexNHP2
Probes
Litterature
PubMed86 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXNHP2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Mon Oct 4 15:22:44 CEST 2021

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