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FLASH GENE
Symbol SNRPD3 contributors: mct - updated : 30-11-2022
HGNC name small nuclear ribonucleoprotein D3 polypeptide 18kDa
HGNC id 11160
Location 22q11.23      Physical location : 24.951.617 - 24.968.509
Synonym symbol(s) SMD3
DNA
TYPE functioning gene
STRUCTURE 19.32 kb     4 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned   linked   status
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
4 - 3466 - 126 - 2020 32545483
4 - 3452 - 126 - 2020 32545483
EXPRESSION
Type
constitutive of
   expressed in (based on citations)
organ(s)
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
conjugated RiboP
HOMOLOGY
Homologene
FAMILY
CATEGORY DNA associated
SUBCELLULAR LOCALIZATION
basic FUNCTION
  • SNRPD2, SNRPD3 and NHP2L1 are involved in sister chromatid cohesion
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • ERH interacts with the spliceosome protein SNRPD3 and is required for the mRNA splicing of the mitotic motor protein CENPE
  • SNRPD3 regulate likely spliceosome and ribosome subunit expression levels and controlled spliceosome and ribosome function via RPL18
  • SNRPD2, SNRPD3 and NHP2L1 were interacting with known mitotic proteins such as SUN2, providing another mechanism for the mitotic dependency on RNA splicing
  • CDCA5 could be a direct mRNA target of SNRPD2, SNRPD3 and NHP2L1
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   amplification    
    microduplication in region with SMARCB1 and SNRPD3 genes in patient presented healed cleft lip, mild facial dysmorphism, cognitive deficit, and delayed language development associated with severe behavioral problems including learning difficulties and aggressive behavior
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS