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FLASH GENE
Symbol PRDM8 contributors: mct - updated : 02-09-2020
HGNC name PR domain containing 8
HGNC id 13993
Corresponding disease
EPM10 epilepsy, progressive myoclonic, 10
Location 4q21.21      Physical location : 81.106.423 - 81.125.480
Genatlas name positive regulatory domain family protein 8
Synonym name PR-domain containing protein 8
Synonym symbol(s) PFM5, EPM10, KMT8D
DNA
TYPE functioning gene
STRUCTURE 20.92 kb     10 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
10 - 4098 - 689 - 2016 26909595
4 - 3130 - 689 - 2016 26909595
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbrain     Homo sapiens
 spinal cord     Homo sapiensFetal
Visualeyeretina    Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
Visualamacrine cell Homo sapiens
Visualbipolar cell Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
one SET domain
HOMOLOGY
Homologene
FAMILY PR-domain protein family, PR (PRDI-BF1 and RIZ homology) domain protein family
CATEGORY regulatory , transcription factor
SUBCELLULAR LOCALIZATION     intracellular
intracellular,nucleus
basic FUNCTION
  • PRDM8 expression is tightly regulated in a spatio-temporal manner during neural development and mainly restricted to postmitotic neurons, except in the spinal cord (pMID: 19616129)
  • PRDM8-mediated regulation of morphological changes that normally occur during the late and terminal multipolar phases plays an important role in neocortical development
  • proper expression of PRDM8 is required for the normal development and construction of UL neurons in the mammalian neocortex
  • critical role likely for DNA hydroxymethylation and methylation in regulating abnormal PRDM8 overexpression in Down syndrome (DS)
  • is a key regulator in neural development and testis steroidogenesis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding
    RNA
    small molecule metal binding,
    Zn2+
    protein
  • through regulating NAP1L1, PRDM8 inhibits PI3K/AKT/mTOR signaling in Hepatocellular carcinoma (HCC)
  • EBF3 is a PRDM8 target gene, and EBF3 is a key regulator of neuronal migration via multipolar-to-bipolar transition
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) EPM10
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --other  
    aberrant hypermethylation is particularly observed in PRDM8 in Dyskeratosis congenita (DKC)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
  • candidate gene for human CSNB
  • Marker
  • aberrant DNA methylation in PRDM8 provides another biomarker for bone marrow failure syndromes
  • Therapy target
    ANIMAL & CELL MODELS