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FLASH GENE
Symbol NHP2 contributors: mct - updated : 19-06-2010
HGNC name NHP2 ribonucleoprotein homolog (yeast)
HGNC id 14377
Corresponding disease
DKC6 dyskeratosis congenita 6
Location 5q35.3      Physical location : 177.576.464 - 177.580.961
Synonym name
  • likely homolog of yeast Nhp2, component of the H/ACA snoRNP
  • nucleolar protein family A, member 2 (H/ACA small nucleolar RNPs)
  • snoRNP protein NHP2
  • NHP2-like protein
  • nucleolar protein family A, member 2
  • Synonym symbol(s) NHP2P, NOLA2, FLJ20479
    DNA
    TYPE functioning gene
    STRUCTURE 4.50 kb     4 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 - 867 17.07 153 - 2002 12020816
    3 - 761 9.94 90 - 2002 12020816
    EXPRESSION
    Rna function highly in spleen, thymus, prostate, testis, ovary, small intestine, colon, heart, brain, placenta, muscle, kidney
    Type
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines proliferating cells
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies homolog to yeast S.cerevisiae Nhp2p
    Homologene
    FAMILY
  • H/ACA sno RNP nucleolar protein gene family
  • ribosomal protein L7Ae family
  • CATEGORY enzyme , RNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm,nuclear bodies,coiled bodies (Cajal)
    intracellular,nucleus,nucleolus
    text dense fibrillar component of nucleole and Cajal bodies
    basic FUNCTION
  • playing a role in ribosomal RNA production and in pseudouridylation of pre rRNA's
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • telomerase complex associating with GAR1, NOP10, DKC1, TERC, TERT
  • DKC1-NOP10-NHP2 core trimer specifically recognizes H/ACA RNAs
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interaction with TERC (assembles not one but two sets of all four of the H/ACA RNP core proteins, dyskerin, NOP10, NHP2, and GAR1)
  • cell & other
    REGULATION
    Other regulated at the transcription level depending on tissue specificity and cellular proliferative status
    ASSOCIATED DISORDERS
    corresponding disease(s) DKC6
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS