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Aliases for NHP2 Gene

Aliases for NHP2 Gene

  • NHP2 Ribonucleoprotein 2 3 5
  • Nucleolar Protein Family A, Member 2 (H/ACA Small Nucleolar RNPs) 2 3
  • SnoRNP Protein NHP2 3 4
  • NOLA2 3 4
  • 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
  • DKCB2 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 Dyskeratosis Congenita, Autosomal Recessive 1. Among its related pathways are Chromosome Maintenance and rRNA processing in the nucleus and cytosol. GO annotations related to this gene include poly(A) RNA binding and 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

Enhancers for NHP2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05F178506 0.6 FANTOM5 1.5 -352.2 -352246 0.2 COL23A1 NHP2 HNRNPAB PIR48624 LOC105377756
GH05F178151 0.6 ENCODE 0.8 +0.7 747 3.3 HDGF PKNOX1 ARNT ARID4B SIN3A YBX1 DMAP1 ZNF2 YY1 ZNF766 ZFP2 LOC100130798 NHP2 PIR57946
GH05F178163 0.8 Ensembl ENCODE 0.4 -10.5 -10451 1.0 HDGF PKNOX1 CREB3L1 ARID4B SIN3A ZNF48 ZNF2 ZNF121 ZNF766 GLIS2 LOC645853 NHP2
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around NHP2 on UCSC Golden Path with GeneCards custom track

Promoters for NHP2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001298034 267 1801 HDGF PKNOX1 ARNT ARID4B SIN3A YBX1 DMAP1 ZNF2 YY1 ZNF766

Genomic Location for NHP2 Gene

Chromosome:
5
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

Genes around NHP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NHP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

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 & Families for NHP2 Gene

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

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 IEA --
GO:0005515 protein binding IPI 23685356
GO:0030515 snoRNA binding ISS --
GO:0034513 box H/ACA snoRNA binding IPI 18082603
GO:0044822 poly(A) RNA binding IDA 22658674
genes like me logo Genes that share ontologies with NHP2: view
genes like me logo Genes that share phenotypes with NHP2: view

Human Phenotype Ontology for NHP2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NHP2 Gene

MGI Knock Outs for NHP2:
  • Nhp2 tm1a(KOMP)Wtsi

Animal Model Products

miRNA for NHP2 Gene

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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 3
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for NHP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000784 nuclear chromosome, telomeric region IDA 19135898
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA,TAS --
GO:0005697 telomerase holoenzyme complex TAS 20351177
GO:0005730 nucleolus IEA --
genes like me logo Genes that share ontologies with NHP2: view

Pathways & Interactions for NHP2 Gene

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

Pathways by source for NHP2 Gene

Gene Ontology (GO) - Biological Process for NHP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000469 cleavage involved in rRNA processing IBA --
GO:0000470 maturation of LSU-rRNA IBA --
GO:0006364 rRNA processing IEA --
GO:0006412 translation IBA --
GO:0007004 telomere maintenance via telomerase TAS 22527283
genes like me logo Genes that share ontologies with NHP2: view

No data available for SIGNOR curated interactions for NHP2 Gene

Drugs & Compounds for NHP2 Gene

(1) Additional Compounds for NHP2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with NHP2: view

Transcripts for NHP2 Gene

Unigene Clusters for NHP2 Gene

NHP2 ribonucleoprotein:
Representative Sequences:

Inhibitory RNA 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

Protein differential expression in normal tissues from HIPED for NHP2 Gene

This gene is overexpressed in Pancreas (9.0), Peripheral blood mononuclear cells (8.3), Monocytes (7.9), and Tlymphocyte (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for NHP2 Gene



Protein tissue co-expression partners for NHP2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NHP2 Gene:

NHP2

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 expression patterns with NHP2: view

Primer 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 34 35
  • 100 (n)
cow
(Bos Taurus)
Mammalia NHP2 34 35
  • 91.29 (n)
dog
(Canis familiaris)
Mammalia NHP2 34 35
  • 91.07 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NHP2 35
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nhp2 34 16 35
  • 86.49 (n)
rat
(Rattus norvegicus)
Mammalia LOC100910210 34
  • 84.75 (n)
oppossum
(Monodelphis domestica)
Mammalia NHP2 35
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves NHP2 34 35
  • 78.49 (n)
lizard
(Anolis carolinensis)
Reptilia NHP2 35
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nhp2 34
  • 72.01 (n)
MGC75777 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.23927 34
zebrafish
(Danio rerio)
Actinopterygii nhp2 34 35
  • 66.67 (n)
wufb36b10 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9733 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012204 34
  • 56.82 (n)
fruit fly
(Drosophila melanogaster)
Insecta NHP2 34 35
  • 55.34 (n)
worm
(Caenorhabditis elegans)
Secernentea Y48A6B.3 34 35
  • 52.1 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABL115W 34
  • 55.23 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NHP2 34 35 37
  • 54.99 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C15345g 34
  • 53.28 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G08180 34
  • 50.69 (n)
rice
(Oryza sativa)
Liliopsida Os06g0274200 34
  • 51.13 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10957 35
  • 57 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes nhp2 34
  • 52.45 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2879 34
Species where no ortholog for NHP2 was found in the sources mined by GeneCards:
  • 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

(1) 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
rs121908089 Dyskeratosis congenita, autosomal recessive, 2 (DKCB2) [MIM:613987], Pathogenic 178,149,760(-) AGGCT(C/T)ACGAT reference, missense, utr-variant-3-prime
rs121908090 Dyskeratosis congenita, autosomal recessive, 2 (DKCB2) [MIM:613987], Pathogenic 178,149,799(-) CCTGT(A/G)TGATA reference, synonymous-codon, missense
rs121908091 Pathogenic 178,149,715(-) CCCTA(A/T)GAGGG reference, utr-variant-3-prime, stop-lost
rs145890370 Likely benign 178,150,922(+) AATTT(C/T)GGTCC intron-variant, reference, missense
rs200781371 Likely benign 178,149,702(+) GTGCT(A/G/T)CCGGA utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
dgv5844n100 CNV gain 25217958
nsv1017664 CNV gain 25217958
nsv1019404 CNV gain 25217958
nsv1120062 OTHER inversion 24896259
nsv600394 CNV loss 21841781

Variation tolerance for NHP2 Gene

Residual Variation Intolerance Score: 61.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.86; 17.87% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NHP2 Gene

Human Gene Mutation Database (HGMD)
NHP2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NHP2

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

Disorders for NHP2 Gene

MalaCards: The human disease database

(6) MalaCards diseases for NHP2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
dyskeratosis congenita, autosomal recessive 2
  • dyskeratosis congenita, autosomal recessive, 2
dyskeratosis congenita, autosomal recessive 1
  • dyskeratosis congenita, autosomal recessive, 1
dyskeratosis congenita
  • zinsser-cole-engman syndrome
nhp2-related dyskeratosis congenita
dyskeratosis congenita autosomal recessive
  • autosomal recessive dyskeratosis congenita
- elite association - COSMIC cancer census association via MalaCards
Search NHP2 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for NHP2

Genetic Association Database (GAD)
NHP2
Human Genome Epidemiology (HuGE) Navigator
NHP2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NHP2
genes like me logo Genes that share disorders with NHP2: view

No data available for Genatlas for NHP2 Gene

Publications for NHP2 Gene

  1. 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 22 64
  2. 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 22 64
  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 64
  4. Effects of dyskeratosis congenita mutations in dyskerin, NHP2 and NOP10 on assembly of H/ACA pre-RNPs. (PMID: 20008900) Trahan C. … Dragon F. (Hum. Mol. Genet. 2010) 3 22 64
  5. Specificity and stoichiometry of subunit interactions in the human telomerase holoenzyme assembled in vivo. (PMID: 20351177) Egan E.D. … Collins K. (Mol. Cell. Biol. 2010) 3 22 64

Products for NHP2 Gene

Sources for NHP2 Gene

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