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Aliases for NHP2 Gene

Aliases for NHP2 Gene

  • NHP2 Ribonucleoprotein 2 3
  • NOLA2 3 4 6
  • Nucleolar Protein Family A, Member 2 (H/ACA Small Nucleolar RNPs) 2 3
  • SnoRNP Protein NHP2 3 4
  • DKCB2 3 6
  • H/ACA Ribonucleoprotein Complex Subunit 2 3
  • NHP2 Ribonucleoprotein Homolog (Yeast) 2
  • Nucleolar Protein Family A Member 2 4
  • NHP2 Ribonucleoprotein Homolog 3
  • NHP2-Like Protein 3
  • NHP2P 3

External Ids for NHP2 Gene

Previous HGNC Symbols for NHP2 Gene

  • NOLA2

Previous GeneCards Identifiers for NHP2 Gene

  • GC05M177510
  • GC05M172302

Summaries for NHP2 Gene

Entrez Gene Summary for NHP2 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 include the DKC1, NOLA1 and NOLA3 proteins. These four H/ACA snoRNP proteins localize to the dense fibrillar components of nucleoli and to coiled (Cajal) bodies in the nucleus. Both 18S rRNA production and rRNA pseudouridylation are impaired if any one of the four proteins is depleted. The four H/ACA snoRNP proteins are also components of the telomerase complex. This gene encodes a protein related to Saccharomyces cerevisiae Nhp2p. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2008]

GeneCards Summary for NHP2 Gene

NHP2 (NHP2 Ribonucleoprotein) is a Protein Coding gene. Diseases associated with NHP2 include dyskeratosis congenita, autosomal recessive 2 and nhp2-related dyskeratosis congenita. Among its related pathways are Cell Cycle, Mitotic and Ribosome biogenesis in eukaryotes. GO annotations related to this gene include snoRNA binding.

UniProtKB/Swiss-Prot for NHP2 Gene

  • 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.

Gene Wiki entry for NHP2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NHP2 Gene

Genomics for NHP2 Gene

Regulatory Elements for NHP2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for NHP2 Gene

Start:
178,149,460 bp from pter
End:
178,153,967 bp from pter
Size:
4,508 bases
Orientation:
Minus strand

Genomic View for NHP2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NHP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NHP2 Gene

Proteins for NHP2 Gene

  • Protein details for NHP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NX24-NHP2_HUMAN
    Recommended name:
    H/ACA ribonucleoprotein complex subunit 2
    Protein Accession:
    Q9NX24
    Secondary Accessions:
    • A6NKY8
    • Q9P095

    Protein attributes for NHP2 Gene

    Size:
    153 amino acids
    Molecular mass:
    17201 Da
    Quaternary structure:
    • Part of the H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which contains NHP2/NOLA2, GAR1/NOLA1, NOP10/NOLA3, and DKC1/NOLA4, which is presumed to be the catalytic subunit. The complex contains a stable core formed by binding of one or two NOP10-DKC1 heterodimers to NHP2; GAR1 subsequently binds to this core via DKC1. The complex binds a box H/ACA small nucleolar RNA (snoRNA), which may target the specific site of modification within the RNA substrate. During assembly, the complex contains NAF1 instead of GAR1/NOLA1. The complex also interacts with TERC, which contains a 3-terminal domain related to the box H/ACA snoRNAs. Specific interactions with snoRNAs or TERC are mediated by GAR1 and NHP2. Associates with NOLC1/NOPP140. H/ACA snoRNPs interact with the SMN complex, consisting of SMN1 or SMN2, GEMIN2/SIP1, DDX20/GEMIN3, and GEMIN4. This is mediated by interaction between GAR1 and SMN1 or SMN2. The SMN complex may be required for correct assembly of the H/ACA snoRNP complex. Component of the telomerase holoenzyme complex at least composed of TERT, DKC1, WRAP53/TCAB1, NOP10, NHP2, GAR1, TEP1, EST1A, POT1 and a telomerase RNA template component (TERC).
    SequenceCaution:
    • Sequence=AAF28964.1; Type=Frameshift; Positions=37, 119, 120; Evidence={ECO:0000305};

neXtProt entry for NHP2 Gene

Proteomics data for NHP2 Gene at MOPED

Post-translational modifications for NHP2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NHP2 Gene

No data available for DME Specific Peptides for NHP2 Gene

Domains for NHP2 Gene

Suggested Antigen Peptide Sequences for NHP2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NX24

UniProtKB/Swiss-Prot:

NHP2_HUMAN :
  • Q9NX24
Family:
  • Belongs to the ribosomal protein L7Ae family.
genes like me logo Genes that share domains with NHP2: view

No data available for Gene Families for NHP2 Gene

Function for NHP2 Gene

Molecular function for NHP2 Gene

UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for NHP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding --
GO:0005515 protein binding IPI 25416956
GO:0030515 snoRNA binding ISS --
GO:0044822 poly(A) RNA binding IDA 22658674
genes like me logo Genes that share ontologies with NHP2: view

Phenotypes for NHP2 Gene

MGI mutant phenotypes for NHP2:
inferred from 1 alleles
GenomeRNAi human phenotypes for NHP2:
genes like me logo Genes that share phenotypes with NHP2: view

Animal Model Products

CRISPR Products

miRNA for NHP2 Gene

miRTarBase miRNAs that target NHP2

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NHP2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for NHP2 Gene

Localization for NHP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NHP2 Gene

Nucleus, nucleolus. Nucleus, Cajal body. Note=Also localized to Cajal bodies (coiled bodies).

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NHP2 Gene COMPARTMENTS Subcellular localization image for NHP2 gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for NHP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005654 nucleoplasm IDA --
GO:0005730 nucleolus IEA --
GO:0005732 small nucleolar ribonucleoprotein complex ISS --
GO:0005737 cytoplasm IDA --
genes like me logo Genes that share ontologies with NHP2: view

Pathways for NHP2 Gene

genes like me logo Genes that share pathways with NHP2: view

Pathways by source for NHP2 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for NHP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031118 rRNA pseudouridine synthesis ISS --
genes like me logo Genes that share ontologies with NHP2: view

Compounds for NHP2 Gene

(1) Novoseek inferred chemical compound relationships for NHP2 Gene

Compound -log(P) Hits PubMed IDs
pseudouridine 71.7 2
genes like me logo Genes that share compounds with NHP2: view

Transcripts for NHP2 Gene

Unigene Clusters for NHP2 Gene

NHP2 ribonucleoprotein:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NHP2

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for NHP2 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b
SP1: - -
SP2: -
SP3: - - -
SP4:

Relevant External Links for NHP2 Gene

GeneLoc Exon Structure for
NHP2
ECgene alternative splicing isoforms for
NHP2

Expression for NHP2 Gene

mRNA expression in normal human tissues for NHP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for NHP2 Gene

SOURCE GeneReport for Unigene cluster for NHP2 Gene Hs.744074

mRNA Expression by UniProt/SwissProt for NHP2 Gene

Q9NX24-NHP2_HUMAN
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.
genes like me logo Genes that share expressions with NHP2: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for NHP2 Gene

Orthologs for NHP2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NHP2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NHP2 35
  • 100 (n)
  • 100 (a)
NHP2 36
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NHP2 35
  • 91.29 (n)
  • 94.77 (a)
NHP2 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NHP2 35
  • 91.07 (n)
  • 94.77 (a)
NHP2 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nhp2 35
  • 86.49 (n)
  • 89.54 (a)
Nhp2 16
Nhp2 36
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NHP2 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NHP2 36
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC100910210 35
  • 84.75 (n)
  • 90.2 (a)
chicken
(Gallus gallus)
Aves NHP2 35
  • 78.49 (n)
  • 80.14 (a)
NHP2 36
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NHP2 36
  • 77 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.23927 35
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC75777 35
nhp2 35
  • 72.01 (n)
  • 79.39 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9733 35
zebrafish
(Danio rerio)
Actinopterygii nhp2 35
  • 66.67 (n)
  • 72.67 (a)
nhp2 36
  • 72 (a)
OneToOne
wufb36b10 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012204 35
  • 56.82 (n)
  • 49.24 (a)
fruit fly
(Drosophila melanogaster)
Insecta NHP2 35
  • 55.34 (n)
  • 43.79 (a)
NHP2 36
  • 41 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y48A6B.3 35
  • 52.1 (n)
  • 47.02 (a)
Y48A6B.3 36
  • 43 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABL115W 35
  • 55.23 (n)
  • 49.64 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NHP2 35
  • 54.99 (n)
  • 54.7 (a)
NHP2 36
  • 43 (a)
OneToOne
NHP2 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C15345g 35
  • 53.28 (n)
  • 49.64 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G08180 35
  • 50.69 (n)
  • 45.45 (a)
rice
(Oryza sativa)
Liliopsida Os06g0274200 35
  • 51.13 (n)
  • 45.76 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes nhp2 35
  • 52.45 (n)
  • 50.74 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2879 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10957 36
  • 57 (a)
OneToOne
Species with no ortholog for NHP2:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NHP2 Gene

ENSEMBL:
Gene Tree for NHP2 (if available)
TreeFam:
Gene Tree for NHP2 (if available)

Paralogs for NHP2 Gene

Selected SIMAP similar genes for NHP2 Gene using alignment to 5 proteins:

Pseudogenes.org Pseudogenes for NHP2 Gene

genes like me logo Genes that share paralogs with NHP2: view

No data available for Paralogs for NHP2 Gene

Variants for NHP2 Gene

Sequence variations from dbSNP and Humsavar for NHP2 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
rs1046505 -- 178,153,683(-) ACGCG(A/G)AAGCT synonymous-codon, reference
rs7446073 -- 178,150,137(+) CCCTG(C/T)TACGT intron-variant
rs11550513 -- 178,153,744(+) GCTCC(A/T)GGTAG reference, missense
rs11550514 -- 178,150,939(+) ATGAC(C/T)GGGAG intron-variant, reference, synonymous-codon
rs13185017 -- 178,151,637(+) GCCCT(C/G)TGCTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NHP2 Gene

Variant ID Type Subtype PubMed ID
nsv883190 CNV Loss 21882294

Relevant External Links for NHP2 Gene

HapMap Linkage Disequilibrium report
NHP2
Human Gene Mutation Database (HGMD)
NHP2
Locus Specific Mutation Databases (LSDB)
NHP2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NHP2 Gene

Disorders for NHP2 Gene

(1) OMIM Diseases for NHP2 Gene (606470)

UniProtKB/Swiss-Prot

NHP2_HUMAN
  • 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 mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for NHP2 Gene

Relevant External Links for NHP2

Genetic Association Database (GAD)
NHP2
Human Genome Epidemiology (HuGE) Navigator
NHP2
genes like me logo Genes that share disorders with NHP2: view

Publications for NHP2 Gene

  1. Expression of the human homologue of the small nucleolar RNA-binding protein NHP2 gene during monocytic differentiation of U937 cells. (PMID: 12020816) Kang H.S. … Kim Y.H. (Biochim. Biophys. Acta 2002) 3 4 23
  2. Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita. (PMID: 18523010) Vulliamy T. … Dokal I. (Proc. Natl. Acad. Sci. U.S.A. 2008) 3 4 23
  3. Human H/ACA small nucleolar RNPs and telomerase share evolutionarily conserved proteins NHP2 and NOP10. (PMID: 11074001) Pogacic V. … Filipowicz W. (Mol. Cell. Biol. 2000) 2 3 4
  4. Directed proteomic analysis of the human nucleolus. (PMID: 11790298) Andersen J.S. … Lamond A.I. (Curr. Biol. 2002) 3 4
  5. Functional proteomic analysis of human nucleolus. (PMID: 12429849) Scherl A. … Diaz J.-J. (Mol. Biol. Cell 2002) 3 4

Products for NHP2 Gene

Sources for NHP2 Gene

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