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FLASH GENE
Symbol POLR2A contributors: mct - updated : 26-03-2019
HGNC name polymerase (RNA) II (DNA directed) polypeptide A, 220kDa
HGNC id 9187
Corresponding disease
NDDIH neurodevelopmental disorder with infantile-onset hypotonia
Location 17p13.1      Physical location : 7.387.697 - 7.417.935
Synonym name
  • RNA-directed RNA polymerase II subunit RPB1
  • DNA-directed RNA polymerase III largest subunit
  • polymerase (RNA) II subunit A
    • Synonym symbol(s) POL2, POLR2, RPB1, RPO2, POLRA, RPBh1, RPOL2, RpIILS, hsRPB1, hRPB220, RNAP2, MGC75453
    EC.number 2.7.7.6/ 2.7.7.48
    DNA
    TYPE functioning gene
    STRUCTURE 30.24 kb     29 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    29 - 6738 - 1970 - 2019 30541148
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestinecolon lowly
     intestinesmall intestine  moderately
     mouthtongue  highly
    Lymphoid/Immunethymus   lowly
    Reproductivefemale systembreastmammary gland predominantly
    Respiratorylung   lowly
     respiratory tractlarynx  moderately
    Visualeye   lowly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow   
    cell lineage
    cell lines
    fluid/secretion blood
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • phosphorylated C-terminal domain
  • zinc-finger
  • C terminal repeat sequence consisting of 52 repeats of the consensus motif (YSPTSPS) referred to as the C terminal domain CTD and is critical for the regulation of gene expression states
    • conjugated PhosphoP
    HOMOLOGY
    interspecies ortholog to rattus Polr2a
    ortholog to murine Polr2a
    ortholog to drosophila RpII215
    ortholog to C. elegans ama-1
    Homologene
    FAMILY
  • RNA polymerase beta' chain family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • DNA-dependent RNA polymerase catalyzing the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates
  • may play a role in cyclobutane pyrimidine dimers damage recognition
  • POLR2A pausing is a key regulatory step in transcription: pauses at GC-rich regions that are marked by a sequence motif, and pausing is highly regulated in normal human cells
    • CELLULAR PROCESS nucleotide, repair
    nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • RNA polymerase II composed of 12 different subunits
  • DNA-directed RNA polymerase II, core complex
    • INTERACTION
    DNA binding
    RNA
    small molecule metal binding,
  • Zn2+
    • protein
  • FNBP3
  • NSAP1
  • SAFB
  • MYB cooperates with CASP8AP2 in foci associated with active POLR2A, leading to enhancement of MYB-dependent gene activation
  • histone N-terminal tails interfere with nucleosome traversal by POLR2A
  • direct interaction of PHF8 with the C-terminal domain of POLR2A
  • Mediator complex interacts extensively with POLR2A, suggesting that activator-induced structural shifts within Mediator trigger activation of stalled Pol II
  • DBIRD complex acts at the interface between mRNP particles and POLR2A, integrating transcript elongation with the regulation of alternative splicing
  • AGO1 and AGO2 facilitate spliceosome recruitment and modulate POLR2A elongation rate, thereby affecting alternative splicing
  • role for SNAPC1 as a general transcriptional coactivator that functions through elongating POLR2A
  • dynamic interaction of SNAPC1 with elongating POLR2A during activation of the FOS gene by EGF
  • interaction of CDK12 with CCNK is required for the phosphorylation of the C-terminal domain of RNA polymerase II
  • BRD4 regulates RNA polymerase II serine 2 phosphorylation in human CD4+ T cells
  • through cooperation with POLR2A and KDM6A, SUPT6H orchestrates removal of H3K27me3, thus controlling developmental gene expression and cell differentiation
  • nuclear DPP4 interacted with a genomic flanking region of the gene for POLR2A, a subunit of RNA polymerase II
  • RECQL5 interacts with POLR2A and inhibits transcription of protein-encoding genes
  • nuclear EIF2C1 regulates the expression of EIF2C1-bound genes that are implicated in oncogenic pathways including cell cycle progression, growth, and survival
  • PPP1R10 regulates POLR2A-mediated gene expression and is necessary for developmental growth
  • DGCR8 physically interacted with ERCC6 and POLR2A
  • by modulating the state of POLR2A complexes, RUVBL1 deregulation induces relication-transcription interference and compromises genome integrity during S-phase
    • cell & other
    REGULATION
    activated by phosphorylation
    Other regulated by positive transcription elongation factor b (CDK9) in association with bromodomain-containing protein 4 (BRD4)
    ASSOCIATED DISORDERS
    corresponding disease(s) NDDIH
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS