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NHP2 Gene

protein-coding   GIFtS: 59
GCID: GC05M177510

NHP2 Ribonucleoprotein

(Previous names: nucleolar protein family A, member 2 (H/ACA small nucleolar...)
(Previous symbol: NOLA2)
  See NHP2-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
NHP2 Ribonucleoprotein1 2     NHP2P2
NOLA21 2 3 5     H/ACA Ribonucleoprotein Complex Subunit 22
Nucleolar Protein Family A, Member 2 (H/ACA Small Nucleolar RNPs)1 2     NHP2 Ribonucleoprotein Homolog2
SnoRNP Protein NHP22 3     NHP2-Like Protein2
DKCB22 5     Nucleolar Protein Family A Member 23
NHP2 Ribonucleoprotein Homolog (Yeast)1     

External Ids:    HGNC: 143771   Entrez Gene: 556512   Ensembl: ENSG000001459127   OMIM: 6064705   UniProtKB: Q9NX243   

Export aliases for NHP2 gene to outside databases

Previous GC identifer: GC05M172302


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include snoRNA binding.

UniProtKB/Swiss-Prot: NHP2_HUMAN, Q9NX24
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 Wiki entry for NHP2 (NOLA2) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the NHP2 gene promoter:
         AhR   USF1   Pax-5   Arnt   C/EBPalpha   CREB   CHOP-10   USF-1   deltaCREB   ATF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNHP2 promoter sequence
   Search Chromatin IP Primers for NHP2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NHP2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q35.3   Ensembl cytogenetic band:  5q35.3   HGNC cytogenetic band: 5q35.3

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

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M177510:  view genomic region     (about GC identifiers)

Start:
177,576,461 bp from pter      End:
177,580,968 bp from pter
Size:
4,508 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: NHP2_HUMAN, Q9NX24 (See protein sequence)
Recommended Name: H/ACA ribonucleoprotein complex subunit 2  
Size: 153 amino acids; 17201 Da
Subunit: 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)
Developmental stage: Transcript peaks at G1/S transition
Sequence caution: Sequence=AAF28964.1; Type=Frameshift; Positions=37, 119, 120;
Secondary accessions: A6NKY8 Q9P095

Explore the universe of human proteins at neXtProt for NHP2: NX_Q9NX24

Explore proteomics data for NHP2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See NHP2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001030005.1  NP_060308.1  

    ENSEMBL proteins: 
     ENSP00000274606   ENSP00000366276   ENSP00000431126   ENSP00000423803   ENSP00000423849  
    Reactome Protein details: Q9NX24

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    Novus Biologicals NHP2 Lysate
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    ProSpec Recombinant Protein for NHP2
    Browse Proteins at Cloud-Clone Corp.

     
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    antibodies-online proteins for NHP2 (20 products) 

     
    antibodies-online peptides for NHP2

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR004038 Ribosomal_L7Ae/L30e/S12e/Gad45
     IPR018492 Ribosomal_L7Ae/L8/Nhp2
     IPR002415 H/ACA_rnp_Nhp2_euk

    Graphical View of Domain Structure for InterPro Entry Q9NX24

    ProtoNet protein and cluster: Q9NX24

    2 Blocks protein domains:
    IPB002415 High mobility group-like nuclear protein signature
    IPB004038 Ribosomal protein L7Ae/L30e/S12e/Gadd45


    UniProtKB/Swiss-Prot: NHP2_HUMAN, Q9NX24
    Similarity: Belongs to the ribosomal protein L7Ae family


    Find genes that share domains with NHP2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NHP2_HUMAN, Q9NX24
    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): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003723RNA binding ----
    GO:0030515snoRNA binding ISS--
    GO:0044822poly(A) RNA binding IDA--
         
    Find genes that share ontologies with NHP2           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for NHP2:
     G0/1 arrest  Increased G1 DNA content  Increased circadian period len 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Nhp2):
     mortality/aging 

    Find genes that share phenotypes with NHP2           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for NHP2

    miRNA
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    miRTarBase miRNAs that target NHP2:
    hsa-mir-330-5p (MIRT038252), hsa-mir-25-3p (MIRT050265), hsa-mir-324-3p (MIRT042952)

    Block miRNA regulation of human, mouse, rat NHP2 using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate NHP2:
    hsa-miR-22 hsa-miR-661 hsa-miR-558
    SwitchGear 3'UTR luciferase reporter plasmidNHP2 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NHP2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    NHP2_HUMAN, Q9NX24: Nucleus, nucleolus. Nucleus, Cajal body. Note=Also localized to Cajal bodies (coiled bodies)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    extracellular1
    mitochondrion1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005732small nucleolar ribonucleoprotein complex ISS--
    GO:0005737cytoplasm IDA--
    GO:0015030Cajal body IEA--

    Find genes that share ontologies with NHP2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for NHP2 About    
    See pathways by source

    SuperPathContained pathways About
    1Telomere C-strand (Lagging Strand) Synthesis
    Extension of Telomeres0.79
    Telomere Extension By Telomerase0.00
    2Packaging Of Telomere Ends
    Telomere Maintenance0.64
    Chromosome Maintenance0.62
    3Cell Cycle, Mitotic
    Cell Cycle0.90
    4Ribosome biogenesis in eukaryotes
    Ribosome biogenesis in eukaryotes


    Find genes that share SuperPaths with NHP2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for NHP2
        Telomere Extension By Telomerase


    1 Kegg Pathway  (Kegg details for NHP2):
        Ribosome biogenesis in eukaryotes

        Pathway & Disease-focused RT2 Profiler PCR Array including NHP2: 
              Telomeres & Telomerase in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for NHP2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for NHP2 (Q9NX243 ENSP000002746064) via UniProtKB, MINT, STRING, and/or I2D (see all 392)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=1 
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    HIST1H4DP628053I2D: score=1 
    HIST1H4EP628053I2D: score=1 
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0031118rRNA pseudouridine synthesis ISS--

    Find genes that share ontologies with NHP2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for NHP2

    1 Novoseek inferred chemical compound relationship for NHP2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pseudouridine 71.7 2 17412831 (1), 16373493 (1)



    Find genes that share compounds with NHP2           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for NHP2 gene (2 alternative transcripts): 
    NM_001034833.1  NM_017838.3  

    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000274606(uc003mir.2 uc003mis.2) ENST00000314397 ENST00000502263
    ENST00000514354 ENST00000511078 ENST00000510363
    miRNA
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    Block miRNA regulation of human, mouse, rat NHP2 using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate NHP2:
    hsa-miR-22 hsa-miR-661 hsa-miR-558
    SwitchGear 3'UTR luciferase reporter plasmidNHP2 3' UTR sequence
    Inhib. RNA
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    Selected AceView cDNA sequences (see all 429):

    BU944722 AA355591 BI755857 BU601397 BM972249 AA723045 BE383350 BX279873 
    BG577033 AW189481 BE900692 CD107696 BE273945 CB125846 BE219742 BM699507 
    BM558351 BM788793 BQ877150 NM_017838 AI126124 BC000009 AA211353 BQ653134 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for NHP2    About this scheme

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


    ECgene alternative splicing isoforms for NHP2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    NHP2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAGGTAATGC
    NHP2 Expression
    About this image


    NHP2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Brain (Nervous System)    fully expand to see all 8 entries
             Cerebral Cortex
             Olfactory Bulb   
     
     Esophagus (Gastrointestinal Tract)
    NHP2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NHP2 Protein Expression

    UniProtKB/Swiss-Prot: NHP2_HUMAN, Q9NX24
    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

        Pathway & Disease-focused RT2 Profiler PCR Array including NHP2: 
              Telomeres & Telomerase in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NHP2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for NHP2 gene from Selected species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nhp21 , 5 NHP2 ribonucleoprotein homolog (yeast)5
    NHP2 ribonucleoprotein1
    86.49(n)1
    89.54(a)1
      11 (31.14 cM)5
    525301  NM_026631.31  NP_080907.11 
     516197355 
    chicken
    (Gallus gallus)
    Aves NHP21 NHP2 ribonucleoprotein homolog (yeast) 78.49(n)
    80.14(a)
      416218  NM_001252144.1  NP_001239073.1 
    lizard
    (Anolis carolinensis)
    Reptilia NHP26
    NHP2 ribonucleoprotein
    77(a)
    1 ↔ 1
    2(146220681-146253912)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.239272 Xenopus laevis transcribed sequence with moderate similarity more 76.08(n)    BJ034839.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb36b102 Danio rerio cDNA clone IMAGE5604030, partial cds 75.39(n)    BC051784.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta NHP21 NHP2 55.34(n)
    43.79(a)
      44005  NM_001274920.1  NP_001261849.1 
    worm
    (Caenorhabditis elegans)
    Secernentea Y48A6B.31 Y48A6B.3 52.1(n)
    47.02(a)
      176531  NM_067014.5  NP_499415.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes NHP2(YDL208W)4
    NHP21
    Nuclear protein related to mammalian high mobility more4
    NHP21
    54.99(n)1
    54.7(a)1
      4(87512-87982)4
    8513191, 4  NP_010073.21, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G081801 AT5G08180 50.69(n)
    45.45(a)
      830714  NM_120901.3  NP_196435.1 
    rice
    (Oryza sativa)
    Liliopsida Os06g02742001 Os06g0274200 51.13(n)
    45.76(a)
      4340741  NM_001063909.1  NP_001057374.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NHP2 gene
    1 SIMAP similar gene for NHP2 using alignment to 5 protein entries:     NHP2_HUMAN (see all proteins):
    NHP2L1

    Find genes that share paralogs with NHP2           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for NHP2
    PGOHUM00000233158


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for NHP2 (see all 188)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219080891,2,,4
    CDyskeratosis congenita, autosomal recessive, 2 (DKCB2)4 pathogenic1177800784(-) AGGCTC/TACGAT 3 H Y mis1 ut310--------
    rs1219080901,2,,4
    CDyskeratosis congenita, autosomal recessive, 2 (DKCB2)4 pathogenic1177800823(-) CCTGTA/GTGATA 4 M V mis1 syn10--------
    rs1219080911,2
    Cpathogenic1177800739(-) CCCTAA/TGAGGG 3 R * stop-lostut310--------
    rs582922081,2
    C--177577386(+) CTCTA-/TTTTTT 2 -- int11Minor allele frequency- T:0.00CSA 2
    rs1141911921,2
    C,F--177800020(+) GGCCCC/AAAGTC 2 -- ds50012Minor allele frequency- A:0.02WA NA 238
    rs1436820651,2
    C--177800056(+) CTAGGA/GCCATT 2 -- ds50010--------
    rs1441503781,2
    --177800110(+) TTCCTA/GTTTAA 2 -- ds50010--------
    rs1139774271,2
    C,F--177800129(+) GTGTGG/CGTGGG 2 -- ds50011Minor allele frequency- C:0.50CSA 2
    rs744465941,2
    C,F--177800158(+) TTCACA/CGTGGC 2 -- ds50011Minor allele frequency- C:0.11WA 118
    rs1847067851,2
    --177800275(+) CTACCC/TTGGAA 2 -- ds50010--------

    HapMap Linkage Disequilibrium report for NHP2 (177576461 - 177580968 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for NHP2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv883190CNV Loss21882294

    Human Gene Mutation Database (HGMD): NHP2
    Locus Specific Mutation Databases (LSDB): NHP2

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NHP2
    DNA2.0 Custom Variant and Variant Library Synthesis for NHP2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606470   
    OMIM disorders: 613987  
    UniProtKB/Swiss-Prot: NHP2_HUMAN, Q9NX24
  • 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. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 5 diseases for NHP2:    
    About MalaCards
    dyskeratosis congenita, autosomal recessive 2    nhp2-related dyskeratosis congenita    dyskeratosis congenita    dyskeratosis congenita, autosomal recessive 4
    aplastic anemia

    1 disease from the University of Copenhagen DISEASES database for NHP2:
    Dyskeratosis congenita

    Find genes that share disorders with NHP2           About GenesLikeMe

    Genetic Association Database (GAD): NHP2
    Human Genome Epidemiology (HuGE) Navigator: NHP2 (2 documents)

    Export disorders for NHP2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for NHP2 gene, integrated from 10 sources (see all 56):
    (articles sorted by number of sources associating them with NHP2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human H/ACA small nucleolar RNPs and telomerase share evolutionarily conserved proteins NHP2 and NOP10. (PubMed id 11074001)1, 2, 3 Pogacic V.... Filipowicz W. (Mol. Cell. Biol. 2000)
    2. Expression of the human homologue of the small nucleolar RNA-binding protein NHP2 gene during monocytic differentiation of U937 cells. (PubMed id 12020816)1, 2, 9 Kang H.S.... Kim Y.H. (Biochim. Biophys. Acta 2002)
    3. Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita. (PubMed id 18523010)1, 2, 9 Vulliamy T....Dokal I. (Proc. Natl. Acad. Sci. U.S.A. 2008)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. Architecture and assembly of mammalian H/ACA small nucleolar and telomerase ribonucleoproteins. (PubMed id 15044956)1, 2 Wang C. and Meier U.T. (EMBO J. 2004)
    7. Functional proteomic analysis of human nucleolus. (PubMed id 12429849)1, 2 Scherl A.... Diaz J.-J. (Mol. Biol. Cell 2002)
    8. Directed proteomic analysis of the human nucleolus. (PubMed id 11790298)1, 2 Andersen J.S.... Lamond A.I. (Curr. Biol. 2002)
    9. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PubMed id 11042152)1, 2 Zhang Q.-H.... Chen Z. (Genome Res. 2000)
    10. Effects of dyskeratosis congenita mutations in dyskerin, NHP2 and NOP10 on assembly of H/ACA pre-RNPs. (PubMed id 20008900)1, 9 Trahan C....Dragon F. (Hum. Mol. Genet. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 55651 HGNC: 14377 AceView: NOLA2 Ensembl:ENSG00000145912 euGenes: HUgn55651
    ECgene: NHP2 Kegg: 55651 H-InvDB: NHP2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for NHP2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for NHP2 gene:
    Search GeneIP for patents involving NHP2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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