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FLASH GENE
Symbol HNRNPH2 contributors: mct - updated : 18-10-2016
HGNC name heterogeneous nuclear ribonucleoprotein H2 (H')
HGNC id 5042
Corresponding disease
MRXSB mental retardation, X-linked, syndromic, Bain type
Location Xq22.1      Physical location : 100.663.190 - 100.669.115
Synonym name
  • heterogeneous nuclear ribonucleoprotein H-prime
  • heterogeneous nuclear RNA ribonucleoprotein complex, core protein H2A, same gene as DXS1271E
  • Synonym symbol(s) FTP3, HNRPH, HNRPH2, MRXSB, hnRNPH'
    DNA
    TYPE functioning gene
    STRUCTURE 6.01 kb     2 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    text these variants encoding the same protein
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 2392 49 449 - 2011 21068389
    2 - 2380 49 449 - 2011 21068389
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunespleen     Homo sapiens
    Nervousbrain     Homo sapiens
    Reproductivemale systemtestis    Homo sapiens
    Respiratorylung     Homo sapiens
    Skin/Tegumentskin     Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • three quasi-RRMs that bind RNA and two glycine-rich domains
  • a nuclear localization sequence (NLS) located within a glycine-rich domain between amino acids 194 and 220 has been identified to interact with the import receptor transportin 1 (TRN1)
  • conjugated RiboP
    HOMOLOGY
    interspecies ortholog to murine Hnrph2
    homolog to Drosophila CG6946
    homolog to C.elegans W02D3.11
    intraspecies homolog to HNRNPF
    Homologene
    FAMILY HNRP family
    CATEGORY RNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus,nucleoplasm
    text
  • shuttle between the nucleus and cytoplasm for pre-mRNA processing and transport
  • basic FUNCTION
  • providing the substrate for the processing events that pre-mRNAs undergo before becoming functional, translatable mRNAs in the cytoplasm
  • having distinct nucleic acid binding properties that act as a shuttle between the nucleus and the cytoplasm and acting on pre-mRNA to positively or negatively affect spliceosome assembly at nearby splice sites, thereby controlling pre-mRNA splicing
  • the relative levels of HNRNPF and HNRNPH2 in cells, as well as the target sequences in the downstream GRS (guanine-rich sequence) on pre-mRNA, influence gene expression
  • HNRNPH2/HNRNPF regulate genes that are involved in the transition from oligodendrocyte progenitor cells to oligodendrocytes
  • is a splicing regulator of TERF2 pre-mRNA that prevents the expression of TERF2-S, a factor implicated in neuronal differentiation
  • HNRNPH2, and HNRNPF have each been identified in neurons and are important in cellular proliferation, differentiation, and apoptosis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of heterogeneous nuclear RNA ribonucleoprotein complex
  • INTERACTION
    DNA
    RNA binding to poly (RG)
    small molecule
    protein
  • developmental changes in HNRNPH2/HNRNPF associated with oligodendrocytes (OLs) differentiation synergistically regulate PLP1 alternative splicing and a G-rich enhancer participates in the regulation
  • HNRNPH2 and HNRNPF regulate PLP1 splicing by recruiting U1snRNP and HNRNPH2 plays a primary role in PLP1 splice site selection
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MRXSB
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS